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

Gene ID: 1618, updated on 28-Nov-2021

Summary

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
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]
Expression
Restricted expression toward testis (RPKM 49.0) See more
Orthologs
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Genomic context

See DAZL in Genome Data Viewer
Location:
3p24.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (16586792..16605423, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (16628299..16646930, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene oxidoreductase NAD binding domain containing 1 Neighboring gene Sharpr-MPRA regulatory region 2856 Neighboring gene raftlin, lipid raft linker 1 Neighboring gene long intergenic non-protein coding RNA 690 Neighboring gene Sharpr-MPRA regulatory region 448 Neighboring gene CDYL pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC26406

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding TAS
Traceable Author Statement
more info
PubMed 
enables mRNA 3'-UTR binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables translation activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables translation activator activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in 3'-UTR-mediated mRNA stabilization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in germ cell development IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of translational initiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of translational initiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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
    5077..23708
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001190811.2NP_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, ENST00000250863.12
    Conserved Domains (1) summary
    cd12672
    Location:55136
    RRM_DAZL; RNA recognition motif in vertebrate deleted in azoospermia-like (DAZL) proteins
  2. NM_001351.4NP_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
    ENSP00000382373.3, ENST00000399444.7
    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 Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    16586792..16605423 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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