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Gene : DNAH1 Homo sapiens

Name  ? dynein axonemal heavy chain 1 Cytological Location  3p21.1
Brief Description  dynein axonemal heavy chain 1
Description  This gene encodes an inner dynein arm heavy chain that provides structural support between the radial spokes and the outer doublet of the sperm tail. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and multiple morphological anomalies of the flagella that result in asthenozoospermia and male infertility. Mice with a homozygous knockout of the orthologous gene are viable but have reduced sperm motility and are infertile. [provided by RefSeq, Feb 2017]
  • synonyms:
  • DNAHC1,
  • HL11,
  • NM_015512,
  • HL-11,
  • HDHC7,
  • DNAHC1,
  • HSRF-1,
  • OTTHUMG00000158378,
  • HGNC:2940,
  • SPGF18,
  • HDHC7,
  • dynein, axonemal, heavy polypeptide 1,
  • XLHSRF-1,
  • DNAH1,
  • XLHSRF-1,
  • HL-11,
  • U61738,
  • HL11,
  • CILD37,
  • uc011bef.3
  • identifiers:
  • 25981,
  • ENSG00000114841,
  • DNAH1

Genome feature

Region: gene ? Length: 87488  
Location: 3:52313010-52400497 Cyto location: 3p21.1


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Function

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1 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 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)

Gene Ontology

Gene --> GO terms.

 

Other

1 Pathways

3753 SN Ps

5 Cross References

19 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results