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

    Gene ID: 3094, updated on 10-Jun-2017
    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]
    Orthologs
    Location:
    5q23.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    Products Interactant Other Gene Complex Source Pubs Description

    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 IDA
    Inferred from Direct Assay
    more info
    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
     
    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
    XP_016864899.1

    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
    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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_017009410.1XP_016864899.1  histidine triad nucleotide-binding protein 1 isoform X1

      UniProtKB/TrEMBL
      D6RD60
      Related
      ENSP00000427499.1, OTTHUMP00000223145, ENST00000508488.1, OTTHUMT00000371614

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      129927969..129934034 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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