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DAZ4 deleted in azoospermia 4 [ Homo sapiens (human) ]

Gene ID: 57135, updated on 25-Jan-2022

Summary

Official Symbol
DAZ4provided by HGNC
Official Full Name
deleted in azoospermia 4provided by HGNC
Primary source
HGNC:HGNC:15966
See related
Ensembl:ENSG00000205916 MIM:400048; AllianceGenome:HGNC:15966
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
pDP1680; pDP1681
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 two copies of the 10.8 kb repeat. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2011]
Expression
Biased expression in stomach (RPKM 48.9) and testis (RPKM 10.4) See more
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Genomic context

See DAZ4 in Genome Data Viewer
Location:
Yq11.23
Exon count:
29
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) Y NC_000024.10 (24833806..24907040)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (26979967..27053187)

Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377241 Neighboring gene deleted in azoospermia 3 Neighboring gene uncharacterized LOC105377242 Neighboring gene tripartite motif containing 60 pseudogene 6, Y-linked

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 4

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_004755.2 

    Range
    3022934..3096154
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001005375.3NP_001005375.1  deleted in azoospermia protein 4 isoform 1

    See identical proteins and their annotated locations for NP_001005375.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1), which includes two RRM domains and nine DAZ repeats.
    Source sequence(s)
    AA608617, AC010089, AF248482, AF248483, AL833003
    UniProtKB/Swiss-Prot
    Q86SG3
    UniProtKB/TrEMBL
    Q658T2
    Related
    ENSP00000371751.3, ENST00000382314.6
    Conserved Domains (2) summary
    TIGR01628
    Location:42438
    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
  2. NM_001388484.1NP_001375413.1  deleted in azoospermia protein 4 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC006338, AC006982, AC010089
    Related
    ENSP00000508087.1, ENST00000682740.1
    Conserved Domains (3) summary
    TIGR01628
    Location:42412
    PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
    pfam18872
    Location:479499
    Daz; Daz repeat
    cd12672
    Location:200281
    RRM_DAZL; RNA recognition motif (RRM) found in vertebrate deleted in azoospermia-like (DAZL) proteins
  3. NM_020420.4NP_065153.1  deleted in azoospermia protein 4 isoform 2

    See identical proteins and their annotated locations for NP_065153.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple differences in the coding region, compared to variant 1. The resulting protein (isoform 2) is shorter and lacks one RRM domain and one DAZ repeat compared to isoform 1.
    Source sequence(s)
    AA608617, AC010089, AL833003, BC047480
    Consensus CDS
    CCDS55557.1
    UniProtKB/Swiss-Prot
    Q86SG3
    UniProtKB/TrEMBL
    Q658T2
    Related
    ENSP00000389300.2, ENST00000449750.7
    Conserved Domains (3) summary
    TIGR01628
    Location:40273
    PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
    pfam18872
    Location:314334
    Daz; Daz repeat
    cd12672
    Location:35116
    RRM_DAZL; RNA recognition motif (RRM) found 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_000024.10 Reference GRCh38.p13 Primary Assembly

    Range
    24833806..24907040
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531509.3XP_011529811.1  deleted in azoospermia protein 4 isoform X2

    Conserved Domains (3) summary
    TIGR01628
    Location:10362
    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
  2. XM_011531510.1XP_011529812.1  deleted in azoospermia protein 4 isoform X3

    Conserved Domains (1) summary
    cl17169
    Location:166
    RRM_SF; RNA recognition motif (RRM) superfamily
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