Homo sapiens Gene: DAZ1 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Gene | IDBG-601.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | DAZ1 | ||||||||||||||||||
Gene Name | deleted in azoospermia 1 | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Gene | ENSG00000188120 | ||||||||||||||||||
Encoded Proteins |
deleted in azoospermia 1
deleted in azoospermia 1
deleted in azoospermia 1
deleted in azoospermia 1
deleted in azoospermia 1
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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 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] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome Y:23129355-23199094 | ||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||
Band | q11.223 | ||||||||||||||||||
Transcripts |
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Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
No orthologs found for this gene | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | |||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | |||||||||||||||||||
UniGene | Hs.522868 Hs.600914 Hs.70936 Hs.732961 | ||||||||||||||||||
RefSeq | NM_001005375 NM_004081 | ||||||||||||||||||
HUGO | |||||||||||||||||||
OMIM | |||||||||||||||||||
CCDS | CCDS48209 | ||||||||||||||||||
HPRD | 15958 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | |||||||||||||||||||
GenPept | |||||||||||||||||||
RNA Seq Atlas | |||||||||||||||||||