Entity Details

Primary name HINT1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP49773
EntryNameHINT1_HUMAN
FullNameHistidine triad nucleotide-binding protein 1
TaxID9606
Evidenceevidence at protein level
Length126
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesHINT1

GO terms

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GOName
GO:0000118 histone deacetylase complex
GO:0000166 nucleotide binding
GO:0005080 protein kinase C binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0006355 regulation of transcription, DNA-templated
GO:0007165 signal transduction
GO:0009154 purine ribonucleotide catabolic process
GO:0016787 hydrolase activity
GO:0043530 adenosine 5'-monophosphoramidase activity
GO:0070062 extracellular exosome
GO:0072332 intrinsic apoptotic signaling pathway by p53 class mediator

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR001310 Histidine triad (HIT) proteinFamilyFamily
IPR011146 HIT-like domainDomainDomain
IPR019808 Histidine triad, conserved siteSiteConserved site
IPR036265 HIT-like superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
137200 OMIMNeuromyotonia and axonal neuropathy, autosomal recessive (NMAN)An autosomal recessive neurologic disorder characterized by onset in the first or second decade of a peripheral axonal neuropathy predominantly affecting motor more than sensory nerves. The axonal neuropathy is reminiscent of Charcot-Marie-Tooth disease type 2 and distal hereditary motor neuropathy. Individuals with NMAN also have delayed muscle relaxation and action myotonia associated with neuromyotonic discharges on needle EMG resulting from hyperexcitability of the peripheral nerves. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00131 Adenosine phosphateDrugbanksmall molecule
DB01972 Guanosine-5'-MonophosphateDrugbanksmall molecule
DB02162 5'-O-(N-Ethyl-Sulfamoyl)AdenosineDrugbanksmall molecule
DB02183 Adenosine-5'-ditungstateDrugbanksmall molecule
DB03349 8-Bromo-Adenosine-5'-MonophosphateDrugbanksmall molecule
DB08934 SofosbuvirDrugbanksmall molecule