InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: DAZ4

Summary

InnateDB Gene

IDBG-841.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DAZ4

Gene Name

deleted in azoospermia 4

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000205916

Encoded Proteins

IDBP-662

deleted in azoospermia 4

IDBP-843

deleted in azoospermia 4

IDBP-849

deleted in azoospermia 4

IDBP-363985

deleted in azoospermia 4

IDBP-364007

deleted in azoospermia 4

IDBP-364014

deleted in azoospermia 4

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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] 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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome Y:24833820-24907040

Strand

Forward strand

Band

q11.23

Transcripts

ENST00000382432	ENSP00000371869
ENST00000382314	ENSP00000371751
ENST00000382296	ENSP00000371733
ENST00000440066	ENSP00000401363
ENST00000449750	ENSP00000389300
ENST00000415508	ENSP00000397895

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0003676	nucleic acid binding
GO:0003723	RNA binding

Biological Process

GO:0007275	multicellular organismal development
GO:0007283	spermatogenesis
GO:0030154	cell differentiation

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm

Orthologs

No orthologs found for this gene

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.600914 Hs.70936 Hs.732961

RefSeq

NM_020420 XM_005262578 XM_005262579

HUGO

OMIM

CCDS

CCDS55557

HPRD

13117

IMGT

EMBL

GenPept

RNA Seq Atlas