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

Gene ID: 1618, updated on 8-May-2016
Official Symbol
DAZLprovided by HGNC
Official Full Name
deleted in azoospermia likeprovided by HGNC
Primary source
HGNC:HGNC:2685
See related
Ensembl:ENSG00000092345 HPRD:09029; 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
107 current GRCh38.p2 (GCF_000001405.28) 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 raftlin, lipid raft linker 1 Neighboring gene uncharacterized LOC105376969 Neighboring gene long intergenic non-protein coding RNA 690 Neighboring gene uncharacterized LOC105376970 Neighboring gene chromodomain protein, Y-like pseudogene

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 IEA
Inferred from Electronic Annotation
more info
 
nucleotide binding IEA
Inferred from Electronic Annotation
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
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 IEA
Inferred from Electronic Annotation
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, OTTHUMP00000211386, ENST00000250863, OTTHUMT00000347262
    Conserved Domains (2) summary
    smart00360
    Location:61130
    RRM; RNA recognition motif
    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
    Related
    ENSP00000382373, OTTHUMP00000211385, ENST00000399444, OTTHUMT00000347261
    Conserved Domains (2) summary
    smart00360
    Location:41110
    RRM; RNA recognition motif
    cd12672
    Location:35116
    RRM_DAZL; RNA recognition motif in vertebrate deleted in azoospermia-like (DAZL) proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p2 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)