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    DAZL deleted in azoospermia like [ Homo sapiens (human) ]

    Gene ID: 1618, updated on 8-Jun-2017
    Official Symbol
    DAZLprovided by HGNC
    Official Full Name
    deleted in azoospermia likeprovided by HGNC
    Primary source
    HGNC:HGNC:2685
    See related
    Ensembl:ENSG00000092345 MIM:601486; Vega:OTTHUMG00000157050
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DAZH; DAZL1; DAZLA; SPGYLA
    Summary
    The DAZ (Deleted in AZoospermia) gene family encodes potential RNA binding proteins that are expressed in prenatal and postnatal germ cells of males and females. The protein encoded by this gene is localized to the nucleus and cytoplasm of fetal germ cells and to the cytoplasm of developing oocytes. In the testis, this protein is localized to the nucleus of spermatogonia but relocates to the cytoplasm during meiosis where it persists in spermatids and spermatozoa. Transposition and amplification of this autosomal gene during primate evolution gave rise to the DAZ gene cluster on the Y chromosome. Mutations in this gene have been linked to severe spermatogenic failure and infertility in males. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
    Orthologs
    Location:
    3p24.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (16586792..16605499, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (16628299..16647006, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene oxidoreductase NAD binding domain containing 1 Neighboring gene raftlin, lipid raft linker 1 Neighboring gene long intergenic non-protein coding RNA 690 Neighboring gene endogenous retrovirus group PABLB member 1 Env polyprotein Neighboring gene chromodomain Y-like pseudogene 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
    NHGRI GWA Catalog
    • Ovarian Infertility Genes, organism-specific biosystem (from WikiPathways)
      Ovarian Infertility Genes, organism-specific biosystemOvarian bottleneck genes associated with infertility. A valuable approach to the study of infertility is the comparison of mutations of individual human and mouse genes associated with infertility ph...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC26406

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    mRNA 3'-UTR binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    translation activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    3'-UTR-mediated mRNA stabilization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    female meiosis II IEA
    Inferred from Electronic Annotation
    more info
     
    germ cell development TAS
    Traceable Author Statement
    more info
    PubMed 
    multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    oocyte maturation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of meiotic nuclear division IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of translational initiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    polysome IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    deleted in azoospermia-like
    Names
    DAZ homolog
    DAZ-like autosomal
    SPGY-like-autosomal
    deleted in azoospermia-like 1
    germline specific RNA binding protein
    spermatogenesis gene on the Y-like autosomal
    testis secretory sperm-binding protein Li 204a

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023329.1 RefSeqGene

      Range
      5001..23708
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001190811.1NP_001177740.1  deleted in azoospermia-like isoform 1

      See identical proteins and their annotated locations for NP_001177740.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK303026, AK310341, BX648638
      Consensus CDS
      CCDS54556.1
      UniProtKB/Swiss-Prot
      Q92904
      Related
      ENSP00000250863.8, OTTHUMP00000211386, ENST00000250863.12, OTTHUMT00000347262
      Conserved Domains (1) summary
      cd12672
      Location:55136
      RRM_DAZL; RNA recognition motif in vertebrate deleted in azoospermia-like (DAZL) proteins
    2. NM_001351.3NP_001342.2  deleted in azoospermia-like isoform 2

      See identical proteins and their annotated locations for NP_001342.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 2.
      Source sequence(s)
      BC027595, BX648638, DB080081
      Consensus CDS
      CCDS43059.1
      UniProtKB/Swiss-Prot
      Q92904
      UniProtKB/TrEMBL
      A0A140VK77
      Related
      ENSP00000382373.2, OTTHUMP00000211385, ENST00000399444.6, OTTHUMT00000347261
      Conserved Domains (1) summary
      cd12672
      Location:35116
      RRM_DAZL; RNA recognition motif in vertebrate deleted in azoospermia-like (DAZL) proteins

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      16586792..16605499 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      16579744..16598453 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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