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Gene : HINT1 Homo sapiens

Name  ? histidine triad nucleotide binding protein 1 Cytological Location  5q23.3
Brief Description  histidine triad nucleotide binding protein 1
Description  This gene encodes a protein that hydrolyzes purine nucleotide phosphoramidates substrates, including AMP-morpholidate, AMP-N-alanine methyl ester, AMP-alpha-acetyl lysine methyl ester, and AMP-NH2. The encoded protein interacts with these substrates via a histidine triad motif. This gene is considered a tumor suppressor gene. In addition, mutations in this gene can cause autosomal recessive neuromyotonia and axonal neuropathy. There are several related pseudogenes on chromosome 7. Several transcript variants have been observed. [provided by RefSeq, Dec 2015]
  • synonyms:
  • PKCI-1,
  • HINT1,
  • OTTHUMG00000128995,
  • uc003kve.5,
  • HGNC:4912,
  • HINT,
  • PRKCNH1,
  • PRKCNH1,
  • NM_005340,
  • PKCI-1,
  • NMAN,
  • histidine triad nucleotide-binding protein,
  • BC007090,
  • HINT
  • identifiers:
  • 3094,
  • ENSG00000169567,
  • HINT1

Genome feature

Region: gene ? Length: 6322  
Location: 5:131159027-131165348 reverse strand Cyto location: 5q23.3


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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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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

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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Interactions

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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3753 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results