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HINT1 histidine triad nucleotide binding protein 1 [ Homo sapiens (human) ]

Gene ID: 3094, updated on 5-Aug-2018

Summary

Official Symbol
HINT1provided by HGNC
Official Full Name
histidine triad nucleotide binding protein 1provided by HGNC
Primary source
HGNC:HGNC:4912
See related
Ensembl:ENSG00000169567 MIM:601314; Vega:OTTHUMG00000128995
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HINT; NMAN; PKCI-1; PRKCNH1
Summary
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]
Expression
Ubiquitous expression in colon (RPKM 85.2), liver (RPKM 83.5) and 25 other tissues See more
Orthologs

Genomic context

See HINT1 in Genome Data Viewer
Location:
5q23.3
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (131159283..131165348, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (130494976..130501041, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene SURP and G-patch domain containing 1 pseudogene Neighboring gene uncharacterized LOC105379172 Neighboring gene LYR motif containing 7 Neighboring gene CDC42 small effector 2 Neighboring gene uncharacterized LOC105379173

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Genes, including GABRP, ADF, HINT, PRSS2, SDCBP, PTK9, PPP2R5B, ITGA3, PRKCBP1, HMOX2, HAT1, PPP1cB, and ICAM-1, are upregulated after treatment of human astrocytes with HIV-1 gp120 PubMed
Tat tat Expression of HIV-1 Tat upregulates the abundance of histidine triad nucleotide binding protein 1 (HINT1) in the nucleoli of Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ30414, FLJ32340

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
protein kinase C binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
intrinsic apoptotic signaling pathway by p53 class mediator IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of calcium-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
purine ribonucleotide catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
extracellular exosome HDA PubMed 
histone deacetylase complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
histidine triad nucleotide-binding protein 1
Names
adenosine 5'-monophosphoramidase
protein kinase C inhibitor 1
protein kinase C-interacting protein 1
NP_005331.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032998.1 RefSeqGene

    Range
    5001..11066
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005340.6NP_005331.1  histidine triad nucleotide-binding protein 1

    See identical proteins and their annotated locations for NP_005331.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the functional protein.
    Source sequence(s)
    AA076103, BC007090, BF967059
    Consensus CDS
    CCDS4147.1
    UniProtKB/Swiss-Prot
    P49773
    Related
    ENSP00000304229.5, OTTHUMP00000159244, ENST00000304043.9, OTTHUMT00000250984
    Conserved Domains (1) summary
    cd01276
    Location:16118
    PKCI_related; Protein Kinase C Interacting protein related (PKCI): PKCI and related proteins belong to the ubiquitous HIT family of hydrolases that act on alpha-phosphates of ribonucleotides. The members of this subgroup have a conserved HxHxHxx motif (x is a ...

RNA

  1. NR_024610.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA076103, BC028300, BF967059
    Related
    ENST00000508495.5, OTTHUMT00000371611
  2. NR_024611.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' exon, compared to variant 1. This variant is represented as non-coding because there is uncertainty about the protein-coding capacity of the transcript.
    Source sequence(s)
    AA076103, BF967059, CK002748, CN290239
    Related
    ENST00000513345.5, OTTHUMT00000371613
  3. NR_073488.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 5' exon and includes two alternate internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA076103, AC004650, BF967059, CD639104, CN290239
  4. NR_134494.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) includes two alternate internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC004650, BC028300, BG393782, CN290233
    Related
    ENST00000511475.5
  5. NR_134495.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC004650, BF970603, BG708765, CN290233

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    131159283..131165348 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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