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DAZ3 deleted in azoospermia 3 [ Homo sapiens (human) ]

Gene ID: 57054, updated on 17-Sep-2022

Summary

Official Symbol
DAZ3provided by HGNC
Official Full Name
deleted in azoospermia 3provided by HGNC
Primary source
HGNC:HGNC:15965
See related
Ensembl:ENSG00000187191 MIM:400027; AllianceGenome:HGNC:15965
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
pDP1679
Summary
This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains one copy of the 10.8 kb repeat. [provided by RefSeq, Jul 2008]
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Genomic context

See DAZ3 in Genome Data Viewer
Location:
Yq11.23
Exon count:
19
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) Y NC_000024.10 (24763069..24813393, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) Y NC_060948.1 (24046728..24099471)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (26909216..26959540, complement)

Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene tripartite motif containing 60 pseudogene 11, Y-linked Neighboring gene uncharacterized LOC105377241 Neighboring gene deleted in azoospermia 4 Neighboring gene uncharacterized LOC105377242

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

Pathways from PubChem

General gene information

Markers

Clone Names

  • MGC126441

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 
Process Evidence Code Pubs
involved_in 3'-UTR-mediated mRNA stabilization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell differentiation 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 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 protein 3

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_028145.1 RefSeqGene

    Range
    5100..55424
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020364.4NP_065097.2  deleted in azoospermia protein 3

    See identical proteins and their annotated locations for NP_065097.2

    Status: REVIEWED

    Source sequence(s)
    AC010089
    Consensus CDS
    CCDS35489.1
    UniProtKB/Swiss-Prot
    Q9NR90
    Related
    ENSP00000371802.2, ENST00000382365.7
    Conserved Domains (2) summary
    cd12672
    Location:35116
    RRM_DAZL; RNA recognition motif in vertebrate deleted in azoospermia-like (DAZL) proteins
    cl25887
    Location:40247
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000024.10 Reference GRCh38.p14 Primary Assembly

    Range
    24763069..24813393 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060948.1 Alternate T2T-CHM13v2.0

    Range
    24046728..24099471
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)