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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]
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).
Specific Disease Summary: azoospermia (postulated), YIPF5-related
OMIM report
Human gene(s) implicated
Symptoms and phenotype
Observation of non-obstructive azoospermia (NOA).
Genetics
Locus identified in a genome-wide association study (GWAS) of non-obstructive azoospermia in Chinese men.
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]
External links
Disease synonyms
male infertility
spermatogenic failure
non-obstructive azoospermia
Ortholog Information
Human gene(s) in FlyBase
Human gene (HGNC)
D. melanogaster ortholog (based on DIOPT)
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)
    Gene Snapshot
    Insufficient genetic data for FlyBase to solicit a summary. [Date last reviewed: 2016-06-30]
    Molecular function (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
        Synthetic Gene(s) Used (0)
        Summary of Physical Interactions (1 groups)
        protein-protein
        Interacting group
        Assay
        References
        bimolecular fluorescence complementation, fluorescence microscopy, anti tag coimmunoprecipitation, anti tag western blot
        Alleles Reported to Model Human Disease (Disease Ontology) (2 alleles)
        Models Based on Experimental Evidence ( 2 )
        Allele
        Disease
        Evidence
        References
        Modifiers Based on Experimental Evidence ( 0 )
        Allele
        Disease
        Interaction
        References
        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
        Selected mammalian transgenes
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
        Allele
        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
        Allele
        Allele class
        Mutagen
        Publicly Available Stocks
        loss of function allele
        CRISPR/Cas9
        loss of function allele
        CRISPR/Cas9
        References (4)