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Aliases for HINT1 Gene

Aliases for HINT1 Gene

  • Histidine Triad Nucleotide Binding Protein 1 2 3
  • PRKCNH1 3 4 6
  • Protein Kinase C-Interacting Protein 1 3 4
  • Adenosine 5-Monophosphoramidase 3 4
  • Protein Kinase C Inhibitor 1 3 4
  • PKCI-1 3 4
  • HINT 3 4
  • NMAN 3 6
  • Histidine Triad Nucleotide-Binding Protein 1 3
  • Histidine Triad Nucleotide-Binding Protein 2
  • EC 3.-.-.- 4
  • PKCI1 4

External Ids for HINT1 Gene

Previous Symbols for HINT1 Gene

  • PRKCNH1
  • HINT

Summaries for HINT1 Gene

Entrez Gene Summary for HINT1 Gene

  • The protein encoded by this gene can hydrolyze substrates such as 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, which is part of the loop that binds to the substrate. This gene has been found to be a tumor suppressing gene. Several transcript variants, but only one of them protein-coding, have been found for this gene. [provided by RefSeq, Dec 2012]

GeneCards Summary for HINT1 Gene

HINT1 (Histidine Triad Nucleotide Binding Protein 1) is a Protein Coding gene. Diseases associated with HINT1 include neuromyotonia and axonal neuropathy, autosomal recessive and axonal neuropathy. GO annotations related to this gene include nucleotide binding and protein kinase C binding. An important paralog of this gene is HINT2.

UniProtKB/Swiss-Prot for HINT1 Gene

  • Hydrolyzes purine nucleotide phosphoramidates with a single phosphate group, including adenosine 5monophosphoramidate (AMP-NH2), adenosine 5monophosphomorpholidate (AMP-morpholidate) and guanosine 5monophosphomorpholidate (GMP-morpholidate). Hydrolyzes lysyl-AMP (AMP-N-epsilon-(N-alpha-acetyl lysine methyl ester)) generated by lysine tRNA ligase, as well as Met-AMP, His-AMP and Asp-AMP, lysyl-GMP (GMP-N-epsilon-(N-alpha-acetyl lysine methyl ester)) and AMP-N-alanine methyl ester. Can also convert adenosine 5-O-phosphorothioate and guanosine 5-O-phosphorothioate to the corresponding nucleoside 5-O-phosphates with concomitant release of hydrogen sulfide. In addition, functions as scaffolding protein that modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex and by the complex formed with MITF and CTNNB1. Modulates p53/TP53 levels and p53/TP53-mediated apoptosis. Modulates proteasomal degradation of target proteins by the SCF (SKP2-CUL1-F-box protein) E3 ubiquitin-protein ligase complex.

Gene Wiki entry for HINT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HINT1 Gene

Genomics for HINT1 Gene

Genomic Location for HINT1 Gene

Start:
131,159,027 bp from pter
End:
131,171,735 bp from pter
Size:
12,709 bases
Orientation:
Minus strand

Genomic View for HINT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HINT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HINT1 Gene

Regulatory Elements for HINT1 Gene

Proteins for HINT1 Gene

  • Protein details for HINT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49773-HINT1_HUMAN
    Recommended name:
    Histidine triad nucleotide-binding protein 1
    Protein Accession:
    P49773
    Secondary Accessions:
    • Q9H5W8

    Protein attributes for HINT1 Gene

    Size:
    126 amino acids
    Molecular mass:
    13802 Da
    Quaternary structure:
    • Homodimer. Interacts with CDK7. Interacts with RUVBL1 and RUVBL2 and is associated with the LEF1/TCF1-CTNNB1 complex and with a KAT5 histone acetyltransferase complex. Identified in a complex with MITF and CTNNB1. Interacts with CDC34 and RBX1, and is part of a SCF (SKP2-CUL1-F-box protein) E3 ubiquitin-protein ligase complex.

    Three dimensional structures from OCA and Proteopedia for HINT1 Gene

neXtProt entry for HINT1 Gene

Proteomics data for HINT1 Gene at MOPED

Post-translational modifications for HINT1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys7, Lys21, Lys30, and Lys92

No data available for DME Specific Peptides for HINT1 Gene

Domains for HINT1 Gene

Protein Domains for HINT1 Gene

UniProtKB/Swiss-Prot:

HINT1_HUMAN
Domain:
  • Contains 1 HIT domain.:
    • P49773
Family:
  • Belongs to the HINT family.:
    • P49773
genes like me logo Genes that share domains with HINT1: view

No data available for Gene Families for HINT1 Gene

Function for HINT1 Gene

Molecular function for HINT1 Gene

UniProtKB/Swiss-Prot Function: Hydrolyzes purine nucleotide phosphoramidates with a single phosphate group, including adenosine 5monophosphoramidate (AMP-NH2), adenosine 5monophosphomorpholidate (AMP-morpholidate) and guanosine 5monophosphomorpholidate (GMP-morpholidate). Hydrolyzes lysyl-AMP (AMP-N-epsilon-(N-alpha-acetyl lysine methyl ester)) generated by lysine tRNA ligase, as well as Met-AMP, His-AMP and Asp-AMP, lysyl-GMP (GMP-N-epsilon-(N-alpha-acetyl lysine methyl ester)) and AMP-N-alanine methyl ester. Can also convert adenosine 5-O-phosphorothioate and guanosine 5-O-phosphorothioate to the corresponding nucleoside 5-O-phosphates with concomitant release of hydrogen sulfide. In addition, functions as scaffolding protein that modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex and by the complex formed with MITF and CTNNB1. Modulates p53/TP53 levels and p53/TP53-mediated apoptosis. Modulates proteasomal degradation of target proteins by the SCF (SKP2-CUL1-F-box protein) E3 ubiquitin-protein ligase complex.

Enzyme Numbers (IUBMB) for HINT1 Gene

Gene Ontology (GO) - Molecular Function for HINT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003824 catalytic activity --
GO:0005080 protein kinase C binding TAS 9770345
GO:0016787 hydrolase activity IDA 16835243
genes like me logo Genes that share ontologies with HINT1: view
genes like me logo Genes that share phenotypes with HINT1: view

Animal Models for HINT1 Gene

MGI Knock Outs for HINT1:

miRNA for HINT1 Gene

miRTarBase miRNAs that target HINT1

No data available for Transcription Factor Targeting and HOMER Transcription for HINT1 Gene

Localization for HINT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HINT1 Gene

Cytoplasm. Nucleus. Note=Interaction with CDK7 leads to a more nuclear localization.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HINT1 Gene COMPARTMENTS Subcellular localization image for HINT1 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
plasma membrane 4
cytosol 3

Gene Ontology (GO) - Cellular Components for HINT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000118 histone deacetylase complex IDA 16835243
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IDA --
GO:0005856 cytoskeleton TAS 8812426
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with HINT1: view

Pathways for HINT1 Gene

SuperPathways for HINT1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HINT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IMP 16835243
GO:0007165 signal transduction TAS 8812426
GO:0008152 metabolic process --
GO:0009154 purine ribonucleotide catabolic process IDA 16835243
genes like me logo Genes that share ontologies with HINT1: view

No data available for Pathways by source for HINT1 Gene

Compounds for HINT1 Gene

(1) HMDB Compounds for HINT1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
61-19-8

(5) Drugbank Compounds for HINT1 Gene

(4) Novoseek inferred chemical compound relationships for HINT1 Gene

Compound -log(P) Hits PubMed IDs
adenosine 5-monophosphoramidate 96.3 2
adenylate 43.5 1
purine 35.6 1
zinc 32.4 2

(1) PharmGKB related drug/compound annotations for HINT1 Gene

Drug/compound Annotation
sofosbuvir
genes like me logo Genes that share compounds with HINT1: view

Transcripts for HINT1 Gene

Unigene Clusters for HINT1 Gene

Histidine triad nucleotide binding protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HINT1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h · 1i ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c · 5d
SP1: - -
SP2: - - - -
SP3: -
SP4: - - - - -
SP5: - - - -
SP6: -
SP7:
SP8: -
SP9:

Relevant External Links for HINT1 Gene

GeneLoc Exon Structure for
HINT1
ECgene alternative splicing isoforms for
HINT1

Expression for HINT1 Gene

mRNA expression in normal human tissues for HINT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HINT1 Gene

SOURCE GeneReport for Unigene cluster for HINT1 Gene Hs.483305

mRNA Expression by UniProt/SwissProt for HINT1 Gene

P49773-HINT1_HUMAN
Tissue specificity: Widely expressed
genes like me logo Genes that share expressions with HINT1: view

Orthologs for HINT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HINT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HINT1 36
  • 99.74 (n)
  • 100 (a)
HINT1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HINT1 36
  • 92.06 (n)
  • 94.44 (a)
HINT1 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 37
  • 96 (a)
OneToMany
-- 37
  • 81 (a)
OneToMany
-- 37
  • 89 (a)
OneToMany
HINT1 36
  • 94.44 (n)
  • 96.83 (a)
mouse
(Mus musculus)
Mammalia Hint1 36
  • 88.62 (n)
  • 94.44 (a)
Hint1 16
Hint1 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 68 (a)
OneToMany
-- 37
  • 87 (a)
OneToMany
-- 37
  • 80 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Hint1 36
  • 88.62 (n)
  • 94.44 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 43 (a)
OneToMany
-- 37
  • 45 (a)
OneToMany
CHPKCI 37
  • 83 (a)
OneToMany
HINT1 36
  • 78.57 (n)
  • 82.54 (a)
HINTW 37
  • 46 (a)
OneToMany
HINTW 37
  • 46 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia HINT1 37
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hint1 36
  • 72.22 (n)
  • 77.78 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10667 36
zebrafish
(Danio rerio)
Actinopterygii Dr.12920 36
hint1 36
  • 71.16 (n)
  • 73.02 (a)
hint1 37
  • 73 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006353 36
  • 62.17 (n)
  • 65.08 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG2862 36
  • 60.85 (n)
  • 67.46 (a)
CG2862 37
  • 57 (a)
OneToMany
CG2862 38
  • 67 (a)
worm
(Caenorhabditis elegans)
Secernentea hint-1 36
  • 62.24 (n)
  • 66.37 (a)
hint-1 37
  • 62 (a)
OneToMany
F21C3.3 38
  • 61 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HNT1 39
thale cress
(Arabidopsis thaliana)
eudicotyledons HIT3 36
  • 56.61 (n)
  • 51.59 (a)
rice
(Oryza sativa)
Liliopsida Os03g0322500 36
  • 59.26 (n)
  • 53.17 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4582 37
  • 62 (a)
OneToOne
Species with no ortholog for HINT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HINT1 Gene

ENSEMBL:
Gene Tree for HINT1 (if available)
TreeFam:
Gene Tree for HINT1 (if available)

Paralogs for HINT1 Gene

Paralogs for HINT1 Gene

Selected SIMAP similar genes for HINT1 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for HINT1 Gene

genes like me logo Genes that share paralogs with HINT1: view

Variants for HINT1 Gene

Sequence variations from dbSNP and Humsavar for HINT1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs4696 -- 131,165,149(-) ATCTT(C/T)GGGAA synonymous-codon, reference, nc-transcript-variant
rs4878 -- 131,159,515(-) ATGGT(A/G)GACAG missense, reference, nc-transcript-variant
rs1802917 -- 131,162,653(-) ATTTC(C/T)CCTCA reference, synonymous-codon, nc-transcript-variant
rs2278058 -- 131,164,755(+) ATACA(C/G)GCAAG intron-variant
rs2278059 -- 131,164,867(+) cctgg(C/T)ccgcg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HINT1 Gene

Variant ID Type Subtype PubMed ID
dgv1852e1 CNV Complex 17122850
nsv882883 CNV Gain 21882294
nsv882884 CNV Loss 21882294

Relevant External Links for HINT1 Gene

HapMap Linkage Disequilibrium report
HINT1
Human Gene Mutation Database (HGMD)
HINT1

Disorders for HINT1 Gene

(1) OMIM Diseases for HINT1 Gene (601314)

UniProtKB/Swiss-Prot

HINT1_HUMAN
  • Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200]: 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. {ECO:0000269 PubMed:22961002}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) Novoseek inferred disease relationships for HINT1 Gene

Disease -log(P) Hits PubMed IDs
schizophrenia 21.2 5
tumors 0 1

Relevant External Links for HINT1

Genetic Association Database (GAD)
HINT1
Human Genome Epidemiology (HuGE) Navigator
HINT1
genes like me logo Genes that share disorders with HINT1: view

Publications for HINT1 Gene

  1. Cloning, mapping, and in vivo localization of a human member of the PKCI-1 protein family (PRKCNH1). (PMID: 8812426) Brzoska P.M. … Christman M.F. (Genomics 1996) 2 3 4 23
  2. Is the histidine triad nucleotide-binding protein 1 (HINT1) gene a candidate for schizophrenia? (PMID: 18799291) Chen Q. … Chen X. (Schizophr. Res. 2008) 3 23 49
  3. Histidine triad nucleotide-binding protein 1 up-regulates cellular levels of p27KIP1 by targeting ScfSKP2 ubiquitin ligase and Src. (PMID: 19112177) Cen B. … Weinstein I.B. (J. Biol. Chem. 2009) 3 4 23
  4. Three-dimensional structure of human protein kinase C interacting protein 1, a member of the HIT family of proteins. (PMID: 8643579) Lima C.D. … Hendrickson W.A. (Proc. Natl. Acad. Sci. U.S.A. 1996) 3 4 23
  5. Side chain independent recognition of aminoacyl adenylates by the Hint1 transcription suppressor. (PMID: 22329685) Wang J. … Guo M. (J. Phys. Chem. B 2012) 3 4

Products for HINT1 Gene

Sources for HINT1 Gene

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