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DAZ1 deleted in azoospermia 1 [ Homo sapiens (human) ]

Gene ID: 1617, updated on 13-Feb-2019

Summary

Official Symbol
DAZ1provided by HGNC
Official Full Name
deleted in azoospermia 1provided by HGNC
Primary source
HGNC:HGNC:2682
See related
Ensembl:ENSG00000188120 MIM:400003
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
DAZ; SPGY
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 three copies of the 10.8 kb repeat. However, no transcripts containing three copies of the RRM domain have been described; thus the RefSeq for this gene contains only two RRM domains. [provided by RefSeq, Jul 2008]
Expression
Biased expression in stomach (RPKM 43.6) and testis (RPKM 11.0) See more

Genomic context

See DAZ1 in Genome Data Viewer
Location:
Yq11.223
Exon count:
28
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) Y NC_000024.10 (23129355..23199117, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (25275502..25345239, complement)

Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene tripartite motif containing 60 pseudogene 9, Y-linked Neighboring gene uncharacterized LOC105377238 Neighboring gene deleted in azoospermia 2 Neighboring gene uncharacterized LOC105377239

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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Spermatogenic failure, Y-linked 2
MedGen: C1839071 OMIM: 415000 GeneReviews: Y Chromosome Infertility
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-10-17)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-10-17)

ClinGen Genome Curation Page

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ17175

Gene Ontology Provided by GOA

Function Evidence Code Pubs
mRNA 3'-UTR binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
translation activator activity IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
germ cell development IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of translational initiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
deleted in azoospermia protein 1
Names
testicular tissue protein Li 49

NCBI Reference Sequences (RefSeq)

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_004755.2 

    Range
    1318469..1388206 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
  2. NG_008286.1 RefSeqGene

    Range
    5001..74738
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004081.5NP_004072.3  deleted in azoospermia protein 1

    See identical proteins and their annotated locations for NP_004072.3

    Status: REVIEWED

    Source sequence(s)
    AC010088, AF271088, BC114927, DB461291
    Consensus CDS
    CCDS48209.1
    UniProtKB/Swiss-Prot
    Q9NQZ3
    UniProtKB/TrEMBL
    A0A140VJH5
    Related
    ENSP00000384573.1, ENST00000405239.5
    Conserved Domains (2) summary
    TIGR01628
    Location:42603
    PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
    cd12672
    Location:200281
    RRM_DAZL; RNA recognition motif in vertebrate deleted in azoospermia-like (DAZL) proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000024.10 Reference GRCh38.p12 Primary Assembly

    Range
    23129355..23199117 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531482.2XP_011529784.1  deleted in azoospermia protein 1 isoform X1

    Conserved Domains (3) summary
    TIGR01628
    Location:10553
    PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
    cd12672
    Location:315396
    RRM_DAZL; RNA recognition motif in vertebrate deleted in azoospermia-like (DAZL) proteins
    cl17169
    Location:166
    RRM_SF; RNA recognition motif (RRM) superfamily
  2. XM_011531483.1XP_011529785.1  deleted in azoospermia protein 1 isoform X2

    Conserved Domains (3) summary
    TIGR01628
    Location:10388
    PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
    cd12672
    Location:150231
    RRM_DAZL; RNA recognition motif in vertebrate deleted in azoospermia-like (DAZL) proteins
    cl17169
    Location:166
    RRM_SF; RNA recognition motif (RRM) superfamily
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