Human Disease Model Report: cancer, epithelial, Notch signaling, Hedgehog signaling

General Information

Name

cancer, epithelial, Notch signaling, Hedgehog signaling

FlyBase ID

FBhh0001075

Disease Ontology Term

carcinoma

Parent Disease

OMIM

Overview

Much of the work in flies investigating the role of the Notch pathway in development of cancer has involved combining Notch signaling dysregulation with other genes postulated to have a role in tumorigenesis. This is typically achieved by using targeted expression of an activated form of Notch (N) or overexpression of one of the Notch ligands, Delta (Dl) or Serrate (Ser); see the human disease model report 'cancer, multiple, Notch signaling pathway' (FBhh0000766).

Overexpression of Dl in the adult eye results in a mild overgrowth phenotype; mutations of interacting genes have been identified that enhance this phenotype and result in much increased, tumorous overgrowth. In one such screen, assessing genes in a gain-of-expression system, the microRNA mir-7 was identified; Dmel\mir-7 is orthologous to human microRNAs MIR7-1 MIR7-2, MIR7-3. Knockdowns of predicted mir-7 target genes were then tested in the same assay; of the 39 genes tested, only downregulation ihog via RNAi fully mimicked the effect of mir-7 overexpression, i.e., the transformation of Dl-induced mild overgrowth into severe overgrowth or tumor-like growth.

Since ihog is a core component of the Hedgehog Signaling Pathway (FBgg0000979), other members of this pathway were tested. Tumorigenesis was induced co-operatively following Notch activation (via Dl overexpression) combined with reduced Hedgehog signalling effected by different mechanisms: overexpression of the mir-7 microRNA; or down-regulation of ihog, hh, smo, or ci; or overexpression of the ci repressor form.

See also the human disease model report 'basal cell carcinoma, SMO-related' (FBhh0001201).

[updated Feb. 2020 by FlyBase; FBrf0222196]

Disease Summary Information

Disease Summary: cancer, epithelial, Notch signaling, Hedgehog signaling

OMIM report

Human gene(s) implicated

Symptoms and phenotype

Genetics

Cellular phenotype and pathology

Molecular information

External links

KEGG Disease Pathways: Pathways in Cancer

Disease synonyms

Related Diseases

Related human health report(s)

basal cell carcinoma, SMO-related

cancer, multiple, Hedgehog signaling pathway

cancer, multiple, Hippo signaling pathway

cancer, multiple, Notch signaling pathway

Ortholog Information

Human gene(s) in FlyBase

Other mammalian ortholog(s) used

D. melanogaster Gene Information (6)

Dmel\Delta

Gene Snapshot

Delta (Delta) encodes a single pass transmembrane EGF family protein and one of two ligands of the Notch signaling pathway. It regulates cell fate decisions and cell proliferation. Post transcriptional modification (such as by fucosylation, ubiquitination and proteolysis) of the product of Delta is key for its functions. [Date last reviewed: 2019-03-07]

Molecular function (GO)

Cellular component (GO)

Gene Groups / Pathways

NTCH-C
DSL

Comments on ortholog(s)

Moderate- to high-scoring ortholog of human DLL1 and DLL4 (1 Drosophila to 2 human); additional less closely related genes in human.

Orthologs and Alignments from DRSC

DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans

H. sapiens (Human)

Dmel\ihog

Gene Snapshot

interference hedgehog (ihog) encodes a type 1 membrane protein that acts as a co-receptor for the product of hh upstream or at the level of the receptor encoded by ptc. It interacts with the products of disp, dlp, dally and shf. It is involved in imaginal pattern formation and embryonic cuticle pattern formation. [Date last reviewed: 2018-11-15]

Molecular function (GO)

Cellular component (GO)

Gene Groups / Pathways

HH-SMOC

Comments on ortholog(s)

Moderate-scoring ortholog of human BOC and CDON (2 human to 2 Drosophila); the other Drosophila gene is boi.

Orthologs and Alignments from DRSC

DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans

H. sapiens (Human)

Dmel\hh

Gene Snapshot

hedgehog (hh) encodes the Hh signaling pathway ligand. It acts as a morphogen contributing to segment polarity determination, stem cells maintenance and cell migration. Post-translational modifications of the product of hh are essential for its restrictive spreading and signaling activity. [Date last reviewed: 2019-03-07]

Molecular function (GO)

Cellular component (GO)

Gene Groups / Pathways

Comments on ortholog(s)

High-scoring ortholog of human SHH, DHH, and IHH (3 human to 1 Drosophila).

Orthologs and Alignments from DRSC

DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans

H. sapiens (Human)

Dmel\smo

Gene Snapshot

smoothened (smo) encodes a critical component of the Hedgehog signaling pathway. It is regulated by phosphorylation, dimerization, and cell-surface accumulation upon Hedgehog stimulation. The product of smo is also regulated by ubiquitin and other small molecules such as phospholipids. [Date last reviewed: 2019-03-14]

Molecular function (GO)

Cellular component (GO)

Gene Groups / Pathways

SMO
HH-SMOC

Comments on ortholog(s)

High-scoring ortholog of human SMO (1 human to 1 Drosophila).

Orthologs and Alignments from DRSC

DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans

H. sapiens (Human)

Dmel\ci

Gene Snapshot

cubitus interruptus (ci) encodes a Zn-finger family of transcription factor. It contributes to Hedgehog (Hh) signaling pathway that is involved in pattern formation and growth control. The product of ci undergoes limited proteolysis to be converted into a truncated form that function as a transcription repressor in the absence of the ligand encoded by hh but is converted into a full-length transcription activator in the presence of the product of hh. [Date last reviewed: 2019-03-07]

Molecular function (GO)

Cellular component (GO)

Gene Groups / Pathways

Comments on ortholog(s)

High-scoring ortholog of human GLI3 and GLI2; moderate-scoring ortholog of GLI1 (3 human to 1 Drosophila).

Orthologs and Alignments from DRSC

DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans

H. sapiens (Human)

Dmel\mir-7

Gene Snapshot

Contributions welcome

Molecular function (GO)

Cellular component (GO)

RISC complex

Gene Groups / Pathways

Comments on ortholog(s)

Orthologous to human MIR7-1 MIR7-2, MIR7-3 (FBrf0242402 and miRBase).

Orthologs and Alignments from DRSC

DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans

H. sapiens (Human)

Other Genes Used: Viral, Bacterial, Synthetic (0)

Summary of Physical Interactions (131 groups)

Delta

RNA-RNA

Interacting group

Assay

References

Delta - mir-1

luminiscence technology, immunohistochemistry

(Kwon et al., 2005)

protein-protein

Interacting group

Assay

References

Delta

atomic force microscopy, bead aggregation assay, fluorescence microscopy, inferred by author

(Parks et al., 2006, Ahimou et al., 2004)

Delta - kuz

protease assay, western blot, inferred by author

(Qi et al., 1999)

Delta - mib1

enzymatic study, anti tag coimmunoprecipitation, anti tag western blot

(Daskalaki et al., 2011, Lai et al., 2005)

Delta - N

affinity technology, inferred by author, bead aggregation assay, fluorescence microscopy, enzyme linked immunosorbent assay, anti bait coimmunoprecipitation, western blot, tag visualisation, phenotype-based detection assay, cross-linking study, pull down, tag visualisation by alkaline phosphatase activity, atomic force microscopy

(Pandey et al., 2019, Yamamoto et al., 2012, Acar et al., 2008, Pei and Baker, 2008, Xu et al., 2007, Parks et al., 2006, Ahimou et al., 2004, Bruckner et al., 2000, Wesley and Saez, 2000, Wesley, 1999, Rebay et al., 1991, Fehon et al., 1990)

Delta - neur

anti tag coimmunoprecipitation, anti tag western blot, pull down, western blot, anti bait coimmunoprecipitation, enzymatic study

(Liu et al., 2012, Daskalaki et al., 2011, Fontana and Posakony, 2009, Commisso and Boulianne, 2007, Skwarek et al., 2007, Pitsouli and Delidakis, 2005)

Delta - Ofut1

anti tag coimmunoprecipitation, anti tag western blot

(Okajima et al., 2005)

Delta - sca

anti bait coimmunoprecipitation, western blot, anti tag coimmunoprecipitation, coimmunoprecipitation, affinity technology, fluorescence microscopy

(Petruccelli et al., 2018, Mok et al., 2005)

ihog

RNA-RNA

Interacting group

Assay

References

ihog - mir-7

quantitative reverse transcription pcr, luminiscence technology, necessary binding region, fluorescence technology

(Da Ros et al., 2013)

protein-protein

Interacting group

Assay

References

ihog

cosedimentation, predetermined participant, molecular sieving, anti tag coimmunoprecipitation, anti tag western blot, bimolecular fluorescence complementation, fluorescence microscopy

(Yang et al., 2021, Wu et al., 2019, McLellan et al., 2006)

ihog - cher

anti tag coimmunoprecipitation, anti tag western blot, Identification by mass spectrometry

(Lalioti et al., 2025)

ihog - dally

colocalization, fluorescence microscopy, inferred by author

(Simon et al., 2021)

ihog - dlp

colocalization, fluorescence microscopy, inferred by author

(Simon et al., 2021)

ihog - hh

x-ray crystallography, predetermined participant, pull down, anti tag western blot, affinity technology, inferred by author, tag visualisation, molecular sieving, molecular weight estimation by staining, anti bait coimmunoprecipitation, western blot, colocalization, fluorescence microscopy, cosedimentation, surface plasmon resonance

(Simon et al., 2021, Kim et al., 2011, Williams et al., 2010, Zheng et al., 2010, Zhang et al., 2007, McLellan et al., 2006, Yao et al., 2006)

ihog - mys

anti tag coimmunoprecipitation, anti tag western blot

(Qi et al., 2023)

ihog - ptc

anti bait coimmunoprecipitation, western blot, anti tag western blot

(Yan et al., 2010, Zheng et al., 2010)

ihog - Rab8

anti tag coimmunoprecipitation, western blot

(Gore et al., 2021)

ihog - shf

anti tag coimmunoprecipitation, anti tag western blot

(Bilioni et al., 2013)

ihog - vn

enzyme linked immunosorbent assay

(Ozkan et al., 2013)

protein-protein

Interacting group

Assay

References

molecular sieving, molecular weight, anti tag coimmunoprecipitation, western blot, molecular weight estimation by staining

(Manikowski et al., 2020, Schürmann et al., 2018, Gallet et al., 2006)

hh - apolpp

cosedimentation, anti tag western blot, anti bait coimmunoprecipitation, western blot

(Eugster et al., 2007, Panakova et al., 2005)

hh - Arf6

anti bait coimmunoprecipitation, western blot

(Chabu et al., 2017)

hh - boi

pull down, western blot, anti tag western blot

(Zheng et al., 2010, Yao et al., 2006)

hh - CG5504

anti bait coimmunoprecipitation, western blot

(Canamasas et al., 2003)

hh - dally

anti tag coimmunoprecipitation, western blot

(Eugster et al., 2007)

hh - disp

anti bait coimmunoprecipitation, anti tag western blot, electron microscopy, microscale thermophoresis

(Cannac et al., 2020, Callejo et al., 2011)

hh - dlp

anti bait coimmunoprecipitation, anti tag western blot, anti tag coimmunoprecipitation, western blot

(Yan et al., 2010)

hh - Hrs

cosedimentation, western blot

(Parchure et al., 2015)

hh - ihog

(Simon et al., 2021, Kim et al., 2011, Williams et al., 2010, Zheng et al., 2010, Zhang et al., 2007, McLellan et al., 2006, Yao et al., 2006)

hh - ptc

pull down, anti tag western blot, anti bait coimmunoprecipitation, western blot, affinity technology, fluorescence microscopy, inferred by author, tag visualisation, cross-linking study

(Zheng et al., 2010, Lu et al., 2006, Canamasas et al., 2003, Wesley, 1999)

hh - Ptr

anti tag coimmunoprecipitation, western blot

(Bolatto et al., 2022)

hh - rasp

enzymatic study, autoradiography

(Hardy and Resh, 2012)

hh - shf

anti tag coimmunoprecipitation, western blot

(Gorfinkiel et al., 2005)

hh - Vps28

cosedimentation, western blot

(Parchure et al., 2015)

smo

protein-protein

Interacting group

Assay

References

smo

pull down, anti tag western blot, fluorescent resonance energy transfer, fluorescence microscopy, autoradiography, anti bait coimmunoprecipitation, western blot, anti tag coimmunoprecipitation, bioluminescence resonance energy transfer, fluorescence technology

(Jiang et al., 2016, Maier et al., 2014, Fan et al., 2012, Chen et al., 2010, Walthall et al., 2007, Zhao et al., 2007)

smo - ci

anti bait coimmunoprecipitation, western blot, peptide massfingerprinting

(Walthall et al., 2007, Lum et al., 2003, Ruel et al., 2003)

smo - cos

anti tag coimmunoprecipitation, western blot, fluorescent resonance energy transfer, anti bait coimmunoprecipitation, tag visualisation, colocalization, fluorescence microscopy, inferred by author, anti tag western blot, pull down, peptide massfingerprinting, bioluminescence resonance energy transfer, fluorescence technology, two hybrid

(Li et al., 2014, Maier et al., 2014, Ranieri et al., 2014, Fan et al., 2012, Ranieri et al., 2012, Shi et al., 2011, Zhang et al., 2011, Liu et al., 2007, Ruel et al., 2007, Walthall et al., 2007, Zhang et al., 2005, Jia et al., 2003, Lum et al., 2003, Ogden et al., 2003, Ruel et al., 2003)

smo - Cul4

anti tag coimmunoprecipitation, anti tag western blot

(Li et al., 2018)

smo - flw

anti tag coimmunoprecipitation, western blot

(Su et al., 2011)

smo - fu

anti bait coimmunoprecipitation, western blot, bimolecular fluorescence complementation, fluorescence microscopy, anti tag coimmunoprecipitation, anti tag western blot, colocalization, inferred by author, two hybrid, peptide massfingerprinting

(Kubíková et al., 2023, Giordano et al., 2018, Ranieri et al., 2014, Ranieri et al., 2012, Malpel et al., 2007, Jia et al., 2003, Lum et al., 2003, Ogden et al., 2003, Ruel et al., 2003)

smo - Gβ13F

anti tag coimmunoprecipitation, anti tag western blot

(Li et al., 2018)

smo - gish

anti tag coimmunoprecipitation, anti tag western blot

(Li et al., 2016)

smo - Gprk2

anti tag coimmunoprecipitation, anti tag western blot, fluorescent resonance energy transfer, fluorescence microscopy, pull down

(Jiang et al., 2016, Chen et al., 2010)

smo - Herc4

anti tag coimmunoprecipitation, anti tag western blot

(Jiang et al., 2019)

smo - Hrs

anti tag coimmunoprecipitation, anti tag western blot, pull down, western blot

(Zhou et al., 2018, Fan et al., 2013)

smo - krz

anti tag coimmunoprecipitation, anti tag western blot, western blot

(Jiang et al., 2018, Zhang et al., 2017, Li et al., 2012, Molnar et al., 2011)

smo - mts

anti tag coimmunoprecipitation, western blot

(Su et al., 2011)

smo - pic

anti tag coimmunoprecipitation, anti tag western blot

(Li et al., 2018)

smo - Pka-C1

anti tag coimmunoprecipitation, western blot, bimolecular fluorescence complementation, fluorescence microscopy, anti tag western blot, anti bait coimmunoprecipitation

(Fan et al., 2019, Chen et al., 2017, Li et al., 2014, Ranieri et al., 2014)

smo - Pp1-13C

anti tag coimmunoprecipitation, western blot

(Su et al., 2011)

smo - Pp1-87B

anti tag coimmunoprecipitation, western blot

(Su et al., 2011)

smo - Pp1α-96A

anti tag coimmunoprecipitation, western blot

(Su et al., 2011)

smo - Pp4-19C

anti tag coimmunoprecipitation, anti tag western blot, pull down

(Jia et al., 2009)

smo - ptc

anti tag coimmunoprecipitation, western blot, anti bait coimmunoprecipitation

(Walthall et al., 2007, Johnson et al., 2000)

smo - Rack1

anti tag coimmunoprecipitation, anti tag western blot

(Li et al., 2020)

smo - smg

colocalization, fluorescence microscopy, inferred by author, anti tag coimmunoprecipitation, anti tag western blot, pull down, molecular weight estimation by staining, two hybrid, x-ray crystallography, isothermal titration calorimetry, predetermined participant

(Kubíková et al., 2023, Bruzzone et al., 2020)

smo - Smurf

anti tag coimmunoprecipitation, anti tag western blot

(Li et al., 2018, Huang et al., 2013)

smo - Sumo

anti tag coimmunoprecipitation, anti tag western blot

(Zhang et al., 2017)

smo - Sxl

anti bait coimmunoprecipitation, western blot

(Walthall et al., 2007)

smo - Ubi-p5E

anti tag coimmunoprecipitation, covalent binding, anti tag western blot

(Yang et al., 2013)

smo - Ubi-p63E

anti tag coimmunoprecipitation, covalent binding, anti tag western blot

(Yang et al., 2013)

smo - Uch-L5

anti tag coimmunoprecipitation, anti tag western blot, anti bait coimmunoprecipitation

(Zhou et al., 2018)

smo - Uch-L5R

anti tag coimmunoprecipitation, anti tag western blot

(Zhou et al., 2018)

smo - Ulp1

anti tag coimmunoprecipitation, anti tag western blot

(Zhang et al., 2017, Ma et al., 2016)

smo - Usp8

anti tag coimmunoprecipitation, anti tag western blot, pull down

(Li et al., 2020, Ma et al., 2016, Fan et al., 2013, Li et al., 2012, Xia et al., 2012)

smo - Vps36

anti tag coimmunoprecipitation, anti tag western blot

(Yang et al., 2013)

smo - wdb

anti tag coimmunoprecipitation, western blot, pull down

(Su et al., 2011)

RNA-RNA

Interacting group

Assay

References

smo - mir-5

fluorescence technology, luminiscence technology, necessary binding region, immunohistochemistry

(Wu et al., 2012)

smo - mir-12

fluorescence technology

(Friggi-Grelin et al., 2008)

smo - mir-283

fluorescence technology

(Friggi-Grelin et al., 2008)

smo - mir-960

luminiscence technology, necessary binding region, fluorescence technology, immunocytochemistry

(Gao et al., 2013)

protein-protein

Interacting group

Assay

References

anti tag coimmunoprecipitation, anti tag western blot, fluorescent resonance energy transfer, fluorescence microscopy

(Zhang et al., 2009)

ci - Ada2b

anti tag coimmunoprecipitation, peptide massfingerprinting

(Weake et al., 2011)

ci - bur

anti tag coimmunoprecipitation, anti tag western blot

(Zhou et al., 2015)

ci - CkIα

anti tag coimmunoprecipitation, anti tag western blot

(Shi et al., 2011, Zhang et al., 2005)

ci - cos

pull down, autoradiography, anti bait coimmunoprecipitation, western blot, anti tag coimmunoprecipitation, anti tag western blot, two hybrid, colocalization, fluorescence microscopy, inferred by author, molecular sieving, peptide massfingerprinting

(Li et al., 2020, Oh et al., 2015, Zhou et al., 2015, Ranieri et al., 2012, Shi et al., 2011, Zhou and Kalderon, 2010, Farzan et al., 2009, Ruel et al., 2007, Zhang et al., 2005, Stegman et al., 2004, Wang and Jiang, 2004, Lum et al., 2003, Ruel et al., 2003, Monnier et al., 2002, Stegman et al., 2000, Wang et al., 2000, Robbins et al., 1997, Sisson et al., 1997)

ci - croc

anti tag coimmunoprecipitation, anti tag western blot

(Tu et al., 2020)

ci - Cul1

enzymatic study, peptide massfingerprinting, pull down, anti tag western blot

(Zhang et al., 2013, Smelkinson et al., 2007)

ci - Cul3

enzymatic study, peptide massfingerprinting

(Zhang et al., 2013)

ci - dbr

two hybrid, pull down, autoradiography, anti bait coimmunoprecipitation, anti tag western blot, anti tag coimmunoprecipitation

(Dai et al., 2003)

ci - dco

enzymatic study, autoradiography, interologs mapping, inferred by curator

(Shi et al., 2014)

ci - eff

enzymatic study, western blot

(Pan et al., 2017)

ci - fu

protein three hybrid, anti bait coimmunoprecipitation, western blot, enzymatic study, molecular sieving, anti tag coimmunoprecipitation, anti tag western blot, two hybrid

(Zhou et al., 2022, Han et al., 2019, Farzan et al., 2009, Paces-Fessy et al., 2004, Stegman et al., 2004, Wang and Jiang, 2004, Horabin et al., 2003, Stegman et al., 2000, Monnier et al., 1998, Robbins et al., 1997)

ci - Gug

pull down, anti tag western blot, anti tag coimmunoprecipitation, two hybrid

(Zhang et al., 2013)

ci - HDAC1

anti tag coimmunoprecipitation, anti tag western blot

(Zhang et al., 2013)

ci - hpo

anti tag coimmunoprecipitation, anti tag western blot

(Li et al., 2015)

ci - hyd

coimmunoprecipitation, western blot

(Moncrieff et al., 2015)

ci - hyx

pull down, autoradiography

(Mosimann et al., 2009)

ci - Kap-α3

anti tag coimmunoprecipitation, anti tag western blot, two hybrid

(Seong et al., 2010)

ci - kto

anti tag coimmunoprecipitation, anti tag western blot

(Mao et al., 2014)

ci - lwr

pull down, western blot

(Lv et al., 2016)

ci - mts

anti tag coimmunoprecipitation, western blot

(Su et al., 2011)

ci - nej

anti tag coimmunoprecipitation, anti tag western blot, two hybrid, lambda phage display, pull down, molecular weight estimation by staining

(Han et al., 2019, Han et al., 2015, Chen et al., 2000, Akimaru et al., 1997)

ci - Npl4

pull down, western blot

(Zhang et al., 2013)

ci - Pka-C1

anti tag coimmunoprecipitation, anti tag western blot, bimolecular fluorescence complementation, fluorescence microscopy

(Ranieri et al., 2014)

ci - Polr2C

anti tag coimmunoprecipitation, anti tag western blot

(Gao et al., 2023)

ci - Polr2G

anti tag coimmunoprecipitation, anti tag western blot

(Gao et al., 2023)

ci - ptc

anti bait coimmunoprecipitation, western blot

(Walthall et al., 2007)

ci - Rack1

anti tag coimmunoprecipitation, anti tag western blot

(Li et al., 2020)

ci - Rbfox1

anti tag coimmunoprecipitation, western blot, anti bait coimmunoprecipitation, anti tag western blot, pull down

(Usha and Shashidhara, 2010)

ci - rdx

two hybrid, pull down, western blot, anti tag coimmunoprecipitation, anti tag western blot, enzymatic study, peptide massfingerprinting

(Han et al., 2019, Zhou et al., 2015, Liu et al., 2014, Shi et al., 2014, Zhang et al., 2013, Seong et al., 2010, Zhang et al., 2009, Kent et al., 2006, Zhang et al., 2006)

ci - sgg

anti tag coimmunoprecipitation, anti tag western blot

(Shi et al., 2011, Zhang et al., 2005)

ci - skd

anti tag coimmunoprecipitation, anti tag western blot

(Mao et al., 2014)

ci - SkpA

pull down, anti tag western blot

(Smelkinson et al., 2007)

ci - slmb

pull down, anti tag western blot, enzymatic study, peptide massfingerprinting, autoradiography

(Zhang et al., 2013, Smelkinson et al., 2007, Smelkinson and Kalderon, 2006, Jia et al., 2005, Dai et al., 2003)

ci - smo

anti bait coimmunoprecipitation, western blot, peptide massfingerprinting

(Walthall et al., 2007, Lum et al., 2003, Ruel et al., 2003)

ci - sqh

anti tag coimmunoprecipitation, anti tag western blot, pull down, Identification by mass spectrometry

(Liu et al., 2015)

ci - Stat92E

anti tag coimmunoprecipitation, anti tag western blot

(Liu et al., 2015)

ci - Su(fu)

fluorescent resonance energy transfer, fluorescence microscopy, pull down, autoradiography, western blot, two hybrid, molecular sieving, anti bait coimmunoprecipitation, anti tag coimmunoprecipitation, anti tag western blot, isothermal titration calorimetry, predetermined participant

(Zhou et al., 2022, Han et al., 2019, Han et al., 2015, Oh et al., 2015, Zhou et al., 2015, Shi et al., 2014, Zhang et al., 2013, Shi et al., 2011, Farzan et al., 2009, Zhang et al., 2006, Paces-Fessy et al., 2004, Wang and Jiang, 2004, Lum et al., 2003, Methot and Basler, 2000, Stegman et al., 2000, Monnier et al., 1998, Paumard-Rigal et al., 1998)

ci - Sumo

pull down, western blot

(Lv et al., 2016)

ci - Sxl

anti bait coimmunoprecipitation, western blot

(Walthall et al., 2007, Horabin et al., 2003)

ci - tai

anti tag coimmunoprecipitation, anti tag western blot, electrophoretic mobility shift assay

(Yu et al., 2024)

ci - Tnpo

anti tag coimmunoprecipitation, anti tag western blot, pull down

(Han et al., 2019, Shi et al., 2014)

ci - tws

anti tag coimmunoprecipitation, western blot

(Su et al., 2011)

ci - Usp7

anti tag coimmunoprecipitation, anti tag western blot, pull down

(Sun et al., 2019, Zhou et al., 2015)

ci - yki

anti tag coimmunoprecipitation, anti tag western blot

(Li et al., 2015)

mir-7

RNA-RNA

Interacting group

Assay

References

mir-7 - aop

immunohistochemistry, fluorescence technology, necessary binding region

(Tokusumi et al., 2011, Li and Carthew, 2005)

mir-7 - bam

anti tag western blot, fluorescence technology

(Pek et al., 2009)

mir-7 - BobA

fluorescence technology

(Lai et al., 2005)

mir-7 - Brd

fluorescence technology, necessary binding region

(Lai et al., 2005)

mir-7 - dap

luminiscence technology, necessary binding region

(Yu et al., 2009)

mir-7 - E(spl)m3-HLH

fluorescence technology

(Lai et al., 2005, Stark et al., 2003)

mir-7 - E(spl)m4-BFM

fluorescence technology

(Lai et al., 2005, Stark et al., 2003)

mir-7 - E(spl)m5-HLH

fluorescence technology, necessary binding region, luminiscence technology

(Lai et al., 2005, Robins et al., 2005)

mir-7 - E(spl)mδ-HLH

fluorescence technology

(Lai et al., 2005)

mir-7 - E(spl)mγ-HLH

fluorescence technology

(Lai et al., 2005)

mir-7 - fng

luminiscence technology

(Robins et al., 2005)

mir-7 - hry

northern blot, fluorescence technology, full identification by RNA sequencing

(Sheng et al., 2023, Stark et al., 2003)

mir-7 - ihog

quantitative reverse transcription pcr, luminiscence technology, necessary binding region, fluorescence technology

(Da Ros et al., 2013)

mir-7 - Tom

fluorescence technology

(Lai et al., 2005)

mir-7 - ttk

immunohistochemistry

(Huang et al., 2013)

mir-7 - yki

luminiscence technology

(Yu et al., 2020)

RNA-protein

Interacting group

Assay

References

mir-7 - AGO1

anti tag coimmunoprecipitation, quantitative reverse transcription pcr, pull down, western blot

(Kakumani et al., 2020, Hong et al., 2009)

mir-7 - Unr

pull down, western blot

(Kakumani et al., 2020)

Alleles Reported to Model Human Disease (Disease Ontology) (20 alleles)

Delta

Models Based on Experimental Evidence ( 2 )

Allele

Disease

Evidence

References

Delta^UAS.cDa

model of cancer

CEA with lola^GS88A8, psq^GS88A8

(Even et al., 2019, Vallejo et al., 2011, Bossuyt et al., 2009, Ferres-Marco et al., 2006)

CEA with ato^{ERD.UAS.Tag:MYC}

(Bossuyt et al., 2009)

CEA with bsk^DN.UAS

(Bossuyt et al., 2009)

CEA with ato^RNAi.UAS.J

(Bossuyt et al., 2009)

CEC

(De Keersmaecker et al., 2013)

CEA with Not3^KK102144

(Vicente et al., 2018)

CEA with Not3^GD4068

(Vicente et al., 2018)

CEA with twin^KK108897

(Vicente et al., 2018)

CEA with Pop2^GD12804

(Vicente et al., 2018)

CEA with Rga^GL00386

(Vicente et al., 2018)

CEA with Not1^GD9640

(Vicente et al., 2018)

CEA

(Zhai et al., 2012)

CEA with ct^RNAi.cGa.UAS

(Zhai et al., 2012)

model of carcinoma

CEA with lola^GS88A8

(Pérez et al., 2015)

model of hematologic cancer

CEA with ct^RNAi.cGa.UAS, lola^GS88A8, psq^GS88A8

(Zhai et al., 2012)

Delta^DN.UAS

model of dilated cardiomyopathy

CEA

(Kim et al., 2010)

Modifiers Based on Experimental Evidence ( 9 )

Allele

Disease

Interaction

References

Delta^HMS01309

ameliorates brain cancer

modeled by Vps35^E42

(Li et al., 2018)

Delta^9P

ameliorates multiple endocrine neoplasia type 2B

modeled by Ret^MEN2B.GMR

(Read et al., 2005)

ameliorates multiple endocrine neoplasia type 2A

modeled by Ret^MEN2A.GMR

(Read et al., 2005)

Delta^RevF10

ameliorates cancer

modeled by Src64B^UAS.cCa

(Enomoto et al., 2021)

ameliorates amyotrophic lateral sclerosis

modeled by Hsap\TARDBP^UAS.cHa, Ser^RX82

(Zhan et al., 2013)

Delta^S049520

ameliorates multiple endocrine neoplasia type 2B

modeled by Ret^MEN2B.GMR

(Read et al., 2005)

ameliorates multiple endocrine neoplasia type 2A

modeled by Ret^MEN2A.GMR

(Read et al., 2005)

Delta^UAS.cDa

model of cancer

is exacerbated by Not3^KG10496

(De Keersmaecker et al., 2013)

is exacerbated by Not3^GD4068

(De Keersmaecker et al., 2013)

is exacerbated by Not3^KK102144

(De Keersmaecker et al., 2013)

is exacerbated by ItgaPS4^KK105806

(Zhai et al., 2012)

is exacerbated by ct^RNAi.cGa.UAS

(Zhai et al., 2012)

is exacerbated by mys^HMS00043

(Zhai et al., 2012)

Delta^JF02867

ameliorates carcinoma

modeled by Egfr^UAS.cBa, psq^KK111691

(Boukhatmi et al., 2020)

Delta⁰⁵¹⁵¹

exacerbates ataxia telangiectasia

modeled by tefu^RNAi.UAS

(Rimkus et al., 2008)

Delta^KK107312

exacerbates Alzheimer's disease

modeled by Psn^RNAi.UAS.3

(Kang et al., 2024)

Delta^DN.UAS

ameliorates brain cancer

modeled by Vps35^E42

(Li et al., 2018)

DOES NOT ameliorate cancer

modeled by Hipk^UAS.Tag:HA

(Blaquiere et al., 2018)

ameliorates cancer

modeled by Src64B^UAS.cCa

(Enomoto et al., 2021)

Models Based on Experimental Evidence ( 1 )

Allele

Disease

Evidence

References

hh^RNAi.UAS.cUa

model of primary bacterial infectious disease

CEA

(Lee et al., 2015)

Modifiers Based on Experimental Evidence ( 4 )

Allele

Disease

Interaction

References

hh²

exacerbates multiple endocrine neoplasia type 2B

modeled by Ret^MEN2B.GMR

(Read et al., 2005)

exacerbates multiple endocrine neoplasia type 2A

modeled by Ret^MEN2A.GMR

(Read et al., 2005)

hh^AC

exacerbates multiple endocrine neoplasia type 2B

modeled by Ret^MEN2B.GMR

(Read et al., 2005)

hh^neo56

ameliorates multiple endocrine neoplasia type 2B

modeled by Ret^MEN2B.GMR

(Read et al., 2005)

hh^rJ413

exacerbates multiple endocrine neoplasia type 2B

modeled by Ret^MEN2B.GMR

(Read et al., 2005)

exacerbates multiple endocrine neoplasia type 2A

modeled by Ret^MEN2A.GMR

(Read et al., 2005)

smo

Models Based on Experimental Evidence ( 1 )

Allele

Disease

Evidence

References

smo^RNAi.UAS.cUa

model of primary bacterial infectious disease

CEA

(Lee et al., 2015)

Modifiers Based on Experimental Evidence ( 1 )

Allele

Disease

Interaction

References

smo¹

ameliorates neurodegenerative disease

modeled by ptc^559.1

(Gazi et al., 2009)

Models Based on Experimental Evidence ( 2 )

Allele

Disease

Evidence

References

ci^{-3P.UAS.W.Tag:HA}

model of cancer

CEA with rdx^NIG.9924R

(Gao et al., 2023)

CEA with Mmus\Gli2^UAS.Tag:MYC

(Gao et al., 2023)

ci^RNAi.UAS.cUa

model of primary bacterial infectious disease

CEA

(Lee et al., 2015)

Modifiers Based on Experimental Evidence ( 3 )

Allele

Disease

Interaction

References

ci^5m.UAS

exacerbates cancer

modeled by Hipk^UAS.Tag:HA

(Blaquiere et al., 2018)

ci^76.UAS

DOES NOT ameliorate cancer

modeled by Hipk^UAS.Tag:HA

(Blaquiere et al., 2018)

ci^RNAi.UAS.cUa

ameliorates atypical teratoid rhabdoid tumor

modeled by Snr1^RNAi.UAS.cUa

(Jeibmann et al., 2014)

Alleles Representing Disease-Implicated Variants

Genetic Tools, Stocks and Reagents

Sources of Stocks

Contact lab of origin for a reagent not available from a public stock center.

Bloomington Stock Center Disease Page

Related mammalian, viral, bacterial, or synthetic transgenes

Allele

Transgene

Publicly Available Stocks

Selected Drosophila transgenes

Allele

Transgene

Publicly Available Stocks

Delta^DN.UAS

P{UAS-Delta.DN}

w¹¹¹⁸; Dr¹ e¹/TM3, P{UAS-Delta.DN}TJ1, Sb¹

ci^{-3P.UAS.W.Tag:HA}

P{UAS-ci.HA.-3P}

RNAi constructs available

Allele

Transgene

Publicly Available Stocks

smo^{RNAi.3'UTR.UAS}

P{UAS-smo.RNAi.3'UTR}

y¹ w^*; P{UAS-smo.RNAi.WIZ}2 P{UAS-smo.RNAi.WIZ}8/CyO, P{Wee-P.ph0}2

y¹ v¹; P{TRiP.JF02363}attP2

y¹ v¹; P{TRiP.GL01472}attP2

smo^HMC03577

P{TRiP.HMC03577}

y¹ sc^* v¹ sev²¹; P{TRiP.HMC03577}attP40

y¹ v¹; P{TRiP.HMJ30064}attP40/CyO

w¹¹¹⁸; P{GD14317}v29897

y¹ v¹; P{TRiP.HMJ21803}attP40/CyO

ihog^HMC05560

P{TRiP.HMC05560}

y¹ sc^* v¹ sev²¹; P{TRiP.HMC05560}attP40

Delta^RNAi.UAS.XK8

P{UAS-Delta.RNAi.XK8}

w¹¹¹⁸; P{GD2642}v37287

y¹ v¹; P{TRiP.JF02867}attP2

Delta^HMS01309

P{TRiP.HMS01309}

y¹ sc^* v¹ sev²¹; P{TRiP.HMS01309}attP2

y¹ sc^* v¹ sev²¹; P{TRiP.GL00520}attP40

y¹ v¹; P{TRiP.HMJ23860}attP40/CyO

w¹¹¹⁸; P{GD1403}v51479

y¹ v¹; P{TRiP.JF01715}attP2

ci^JF01271

P{TRiP.JF01271}

y¹ v¹; P{TRiP.JF01271}attP2

ci^JF01272

P{TRiP.JF01272}

y¹ v¹; P{TRiP.JF01272}attP2

ci^JF01744

P{TRiP.JF01744}

y¹ v¹; P{TRiP.JF01744}attP2

P{UAS-hh.TH201500473.S}

w¹¹¹⁸; P{GD6242}v43255

hh^JF01804

P{TRiP.JF01804}

y¹ v¹; P{TRiP.JF01804}attP2

y¹ v¹; P{TRiP.JF01270}attP2

hh^JF01488

P{TRiP.JF01488}

y¹ v¹; P{TRiP.JF01488}attP2

hh^HMS00492

P{TRiP.HMS00492}

y¹ sc^* v¹ sev²¹; P{TRiP.HMS00492}attP2/TM3, Sb¹

hh^KK108916

P{KK108916}

P{KK108916}VIE-260B

Selected Drosophila classical alleles

Allele

Allele class

Mutagen

Publicly Available Stocks

smo^D16

loss of function allele

gamma ray

w^*; smo^D16 P{neoFRT}42D mam¹⁰ Egfr^f24/CyO, P{ActGFP}JMR1

smo¹

ethyl methanesulfonate

CyO / smo¹ cn¹ bw¹ speck¹

ihog^DC1

amorphic allele - molecular evidence

FLPase

ihog^GLC

amorphic allele - molecular evidence

ends-out gene targeting

Delta⁰⁵¹⁵¹

P-element activity

Delta^S049520

Delta2-3 transposase

Delta^ΔExon2

amorphic allele - molecular evidence

CRISPR/Cas9

Delta^BX44

amorphic allele - genetic evidence

X ray

Delta^FE27

amorphic allele - genetic evidence

ethyl methanesulfonate

Delta^9P

amorphic allele - genetic evidence

ethyl methanesulfonate

ru¹ hry¹ Diap1^th-1 st¹ cu¹ sr¹ Delta^9P e^s ca¹/TM3, Sb¹

Delta^BE30

amorphic allele - genetic evidence

ethyl methanesulfonate

Delta^B2

amorphic allele - genetic evidence

ethyl methanesulfonate

Delta^B2 e¹/TM6C, Sb¹

Delta³

loss of function allele

spontaneous

Delta³/In(3R)C, sprd¹ e¹

Delta^RevF10

loss of function allele

Delta^RevF10 e^* Ser^RX82 P{neoFRT}82B/TM6B, Tb¹

Delta^M1

loss of function allele

X ray

Delta^BE32

amorphic allele - genetic evidence

ethyl methanesulfonate

Delta^M

loss of function allele

spontaneous

Delta^X

amorphic allele - genetic evidence

Delta^X/In(3L)P, In(3R)P

Delta^vi3

loss of function allele

ethyl methanesulfonate

Delta^vi1

loss of function allele

ethyl methanesulfonate

Delta^CE21

amorphic allele - genetic evidence

ethyl methanesulfonate

Delta^BX38

amorphic allele - genetic evidence

X ray

Delta^CE23

amorphic allele - genetic evidence

ethyl methanesulfonate

Delta^BX39

amorphic allele - genetic evidence

X ray

Delta^KX1

amorphic allele - genetic evidence

X ray

Delta^M3

loss of function allele

ethyl methanesulfonate

Delta^M2

loss of function allele

spontaneous

Delta^EP3816.A

loss of function allele

Delta2-3 transposase

ci^DR50

loss of function allele

gamma ray

ci^D

loss of function allele

X ray

ci^D / l(4)102ABd⁴

ci⁹⁴

loss of function allele

Delta2-3 transposase

P{hsFLP}12, y¹ w^*; P{ci^+tWa}2L P{neoFRT}40A; ci⁹⁴

hh^ΔaptDB1

loss of function allele

CRISPR/Cas9

hh^ΔaptDB2

loss of function allele

CRISPR/Cas9

hh^ΔaptDB3

loss of function allele

CRISPR/Cas9

hh^ΔaptDB4

loss of function allele

CRISPR/Cas9

hh^ΔaptDB5

loss of function allele

CRISPR/Cas9

hh^ΔaptDB6

loss of function allele

CRISPR/Cas9

hh^rJ413

P-element activity

ry⁵⁰⁶ P{PZ}hh^rJ413 CG31457^rJ413/TM3, ry^RK Sb¹ Ser¹

hh^neo56

P-element activity

hh^A

loss of function allele

Delta2-3 transposase

hh^AC

amorphic allele - genetic evidence

Delta2-3 transposase

ry⁵⁰⁶ hh^AC/TM3, Sb¹

hh^AE

amorphic allele - genetic evidence

Delta2-3 transposase

hh^AM

loss of function allele

Delta2-3 transposase

hh¹¹

amorphic allele - genetic evidence

gamma ray

hh²

ethyl methanesulfonate

st¹ e¹ hh²/TM3, Sb¹

hh¹⁰

amorphic allele - genetic evidence

gamma ray

hh³

loss of function allele

ethyl methanesulfonate

hh⁸

amorphic allele - genetic evidence

ethyl methanesulfonate

hh²¹

loss of function allele

ethyl methanesulfonate

P{ftz-lacC}4; hh²¹/TM3, Sb¹

mir-7^CRISPR1

loss of function allele

CRISPR/Cas9

References (6)

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