FB2026_03 , released September 17, 2026
Human Disease Model Report: azoospermia (postulated), YIPF5-related
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General Information
Name
azoospermia (postulated), YIPF5-related
FlyBase ID
FBhh0000237
Disease Ontology Term
Parent Disease
OMIM
Overview

Identified in a GWAS analysis of Chinese men with non-obstructive azoospermia (FBrf0227519), the human gene YIPF5 is proposed as a candidate gene for involvement in human male fertility. YIPF5 is a transmembrane protein localizing in the Golgi apparatus and the endoplasmic reticulum. There is a single fly ortholog, Yip1d1, for which RNAi-targeting constructs and alleles caused by insertional mutagenesis have been generated. Dmel\Yip1d1 is also orthologous to the human gene YIPF7.

A UAS construct of a wild-type human Hsap\YIPF5 gene has been introduced into flies, but has not been characterized.

In Drosophila, tissue-specific knockdown of Yip1d1 using GAL4/UAS-RNAi results in male sterility; functional Yip1d1 is required in the somatic cells of the testis for normal fertility.

[updated Oct. 2019 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: azoospermia, non-obstructive
Symptoms and phenotype

Non-obstructive azoospermia (NOA) is defined as absence of any measurable level of sperm in semen, resulting from a defect in the production of spermatozoa in the testes. [from MedGen, Non-obstructive azoospermia; MedGen UID: 866757]

(FlyBase Curators, 2013-)

Non-obstructive azoospermia (NOA), or failure of spermatogenesis within the testis, is diagnosed in approximately 10% of infertile men. NOA may be due to a lack of appropriate stimulation by gonadotropins, in which case hormonal therapy is usually effective. A larger category of non-obstructive azoospermia consists of men with an intrinsic testicular impairment. In these cases, the primary approach is to improve the quantity and quality of sperm retrieved from the testis for use for in vitro fertilization (Kumar, 2013; PMCID:PMC3583162).

(FlyBase Curators, 2013-)
Specific Disease Summary: azoospermia (postulated), YIPF5-related
OMIM report
Human gene(s) implicated
Symptoms and phenotype

Observation of non-obstructive azoospermia (NOA).

(Yu et al., 2015)
Genetics

Locus identified in a genome-wide association study (GWAS) of non-obstructive azoospermia in Chinese men.

(Yu et al., 2015)
Cellular phenotype and pathology
Molecular information

YIPF5 may play a role in vesicle-mediated transport; it is a transmembrane protein localizing in the Golgi apparatus and the endoplasmic reticulum. [from UniProt:Q969M3; 2016.04.07]

(FlyBase Curators, 2013-)
External links
Disease synonyms
male infertility
non-obstructive azoospermia
spermatogenic failure
Ortholog Information
Human gene(s) in FlyBase
Human gene (HGNC)
Symbol / Name
YIPF5; Yip1 domain family member 5
D. melanogaster ortholog (based on DIOPT)
Dmel\Yip1d1
(DIOPT, 2013-)
Comments on ortholog(s)

Many to one: 2 human to 1 Drosophila; additional human orthologous gene is YIP7.

Other mammalian ortholog(s) used
    D. melanogaster Gene Information (1)
    Dmel\Yip1d1
    Gene Snapshot
    Contributions welcome
    Molecular function (GO)
      Cellular component (GO)
      Gene Groups / Pathways
        Comments on ortholog(s)

        Ortholog of human YIPF5 and YIPF7 (1 Drosophila to 2 human). Dmel\CG12404 shares 43-47% identity and 62-63% similarity with the human genes.

        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 (1 groups)
          Yip1d1
          protein-protein
          Interacting group
          Assay
          References
          Yip1d1 - Yif1
          anti tag coimmunoprecipitation, anti tag western blot, bimolecular fluorescence complementation, fluorescence microscopy
          (Wang et al., 2018)
          Alleles Reported to Model Human Disease (Disease Ontology) (2 alleles)
          Yip1d1
          Models Based on Experimental Evidence ( 2 )
          Allele
          Disease
          Evidence
          References
          Yip1d1GD404
          model of  azoospermia
          CEA
          (Yu et al., 2015)
          Yip1d1HMS02388
          model of  azoospermia
          CEA
          (Yu et al., 2015)
          Modifiers Based on Experimental Evidence ( 0 )
          Allele
          Disease
          Interaction
          References
          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
          Hsap\YIPF5UAS.Tag:HA
          M{UAS-hYIPF5.HA}
          y1 w*; M{UAS-hYIPF5.HA}ZH-86Fb/TM3, Sb1 Ser1
          Selected Drosophila transgenes
          Allele
          Transgene
          Publicly Available Stocks
          RNAi constructs available
          Allele
          Transgene
          Publicly Available Stocks
          Yip1d1GD404
          P{GD404}
          w1118; P{GD404}v1463
          Yip1d1KK102917
          P{KK102917}
          P{KK102917}VIE-260B
          Yip1d1NIG.12404R
          P{NIG.12404R}
          P{NIG.12404R}1
          Yip1d1HMS02388
          P{TRiP.HMS02388}
          y1 v1; P{TRiP.HMS02388}attP40/CyO
          Selected Drosophila classical alleles
          Allele
          Allele class
          Mutagen
          Publicly Available Stocks
          Yip1d11-21
          loss of function allele
          CRISPR/Cas9
          Yip1d12-20
          loss of function allele
          CRISPR/Cas9
          References (4)