DAZ1

GENE INFORMATION

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Gene name

DAZ1 (HGNC Symbol)

Synonyms

DAZ, SPGY

Description

Deleted in azoospermia 1 (HGNC Symbol)

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 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]

Chromosome

Y

Cytoband

q11.223

Chromosome location (bp)

23129355 - 23199094

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000188120 (version 78.38)

Entrez gene

1617

UniProt

Q9NQZ3 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NQZ3

Antibodypedia

DAZ1 antibodies
 

PROTEIN VIEW

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DAZ1-001
 
DAZ1-201
 
DAZ1-202
 
DAZ1-203
 
DAZ1-204
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DAZ1-001 ENSP00000384573
ENST00000405239
Q9NQZ3
Show all »
Show » Show » 744 82.8 No 0
DAZ1-201 ENSP00000371950
ENST00000382510
Q9NQZ3
Show all »
Show » Show » 613 67.3 No 0
DAZ1-202 ENSP00000400716
ENST00000426000
Q6S4N0
Show all »
Show » Show » 366 41.3 No 0
DAZ1-203 ENSP00000444407
ENST00000540248
Q6S4N0
Show all »
Show » Show » 390 44.1 No 0
DAZ1-204 ENSP00000484907
ENST00000620725
Q6S4N0
Show all »
Show » Show » 486 54.9 No 0