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Gene : DAZ1 Homo sapiens

Name  ? deleted in azoospermia 1 Cytological Location  Yq11.223
Brief Description  deleted in azoospermia 1
Description  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]
  • synonyms:
  • SPGY,
  • HGNC:2682,
  • OTTHUMG00000044053,
  • DAZ1,
  • NM_004081,
  • DAZ,
  • DAZ,
  • uc004fvl.4,
  • deleted in azoospermia,
  • SPGY
  • identifiers:
  • 1617,
  • ENSG00000188120,
  • DAZ1

Genome feature

Region: gene ? Length: 69763  
Location: Y:23129355-23199117 reverse strand Cyto location: Yq11.223


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

Gene(s) --> Significant SNPs (GTex data)

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Other

0 Pathways

0 SN Ps

5 Cross References

13 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results