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FLASH GENE
Symbol HINT1 contributors: mct - updated : 11-07-2016
HGNC name histidine triad nucleotide binding protein 1
HGNC id 4912
Corresponding disease
NMAN neuromyotonia and axonal neuropathy
Location 5q31.1      Physical location : 130.494.874 - 130.501.034
Synonym name
  • protein kinase C inhibitor 1
  • protein kinase C interacting protein
  • Synonym symbol(s) PRKCNH1, PKCI-1, FLJ30414, FLJ32340, HINT, PKCI1
    DNA
    TYPE functioning gene
    STRUCTURE 6.07 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site
    MAPPING cloned Y linked   status provisional
    Physical map
    ADAMTS19 5q31 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19 CSS3 5q31.1 chondroitin sulfate synthase 3 LOC133629 5q31.1 similar to ribosomal protein L11 LOC133628 5q31.1 similar to splicing factor 4 isoform a; RNA-binding protein HINT1 5q31.2 histidine triad nucleotide binding protein 1 LOC90624 5q31.1 hypothetical protein LOC90624 SPEC2 5q31 hypothetical protein LOC90624 PDZGEF2 5q31.1 PDZ domain containing guanine nucleotide exchange factor (GEF) 2 ACTBP4 5q23.3 actin, beta pseudogene 4 FACL6 5q31 fatty-acid-Coenzyme A ligase, long-chain 6 IL3 5q31.1 interleukin 3 (colony-stimulating factor, multiple) CSF2 5q31.1 colony stimulating factor 2 (granulocyte-macrophage) LOC389325 5 LOC389325 P4HA2 5q31.1 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II RIL 5q31.1 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II SLC22A4 5q31.2 solute carrier family 22 (organic cation transporter), member 4 SLC22A5 5q31.1-q32 solute carrier family 22 (organic cation transporter), member 5 LOC389326 5 hypothetical gene supported by AK096941; AK128882 IRF1 5q31.1 interferon regulatory factor 1 IL5 5q31.1 interleukin 5 (colony-stimulating factor, eosinophil) RAD50 5q31 RAD50 homolog (S. cerevisiae) IL13 5q31.1 interleukin 13 IL4 5q31.1 interleukin 4 KIF3A 5q31 kinesin family member 3A SEPT8 5q31 kinesin family member 3A LOC134548 5q31.1 hypothetical protein LOC134548 APXL2 5q31.1 hypothetical protein LOC134548
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 689 - 126 - 1996 8812426
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestivemouth   highly
     salivary gland   highly
    Urinarybladder   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • histidine triad (Hit) motif in the C-terminus, having a critical role on governing substrate specificity
  • secondary structure a five-stranded antiparallele beta street and two alpha helices
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Hint
    homolog to C.elegans F21C3.3
    Homologene
    FAMILY histidine triad family of protein (HIT family)
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton
    intracellular,nucleus
    basic FUNCTION
  • cleaving a TP into AMP and inorganic phosphate by enzymatic activity
  • intracellular receptor for purine mononucleotides
  • involved in the regulation of apoptotic pathways by inducing an up-regulation of TP53 expression coinciding with an up-regulation of the proapoptotic factor BAX and a concomitant down-regulation of the apoptosis inhibitor BCL2
  • its major function is to modulate OPRM1 signaling pathway along with RGS20, rather than directly mediating the GNAZ RGS20 interaction
  • tumor suppressor function of HINT1 is caused by, at least in part, its normal role in enhancing cellular responses to DNA damage by regulating the functions of both H2AFX and ATM
  • tumor suppressor activity of HINT1 gene in melanoma cells by promoting the formation of non-functional complexes with oncogenic transcription factors like MITF and CTNNB1
  • catalyzes the hydrolysis of phosphoramidate and acyl adenylate with high efficiency, through a mechanism that relies on rapid adenylylation of the active residue, His112, while being partially rate-limited by intermediate hydrolysis and product release associated with a conformational change
  • involved in the behavioral abnormalities induced by social isolation and exerts distinct roles in different encephalic regions
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • Protein kinase C
  • CDK7
  • ATDC
  • interaction with Pontin and Reptin (inhibits T-cell factor/beta-catenin-mediated transcription of Wnt target genes)
  • interacting with RGS20
  • suppresses specific gene transcription by interacting with the transcription factor MITF in mast cells
  • novel function of HINT1 that involves the regulation of SOC-mediated Ca(2+) entry pathway (ORAI1 and STIM1), essential for regulation of cellular Ca(2+) homeostasis
  • HINT1 protein cooperates with CNR1 to negatively regulate glutamate NMDA receptor activity
  • HINT1 is a human TENM1 intracellular domain (ICD) interaction partner
  • inhibitory role of HINT1 on the protein PRKCG in the brain and an impaired PRKCG-mediated phosphorylation signal in HINT1-deficient neuron
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NMAN
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS