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Aliases for HINT1 Gene

Aliases for HINT1 Gene

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

External Ids for HINT1 Gene

Previous HGNC Symbols for HINT1 Gene

  • PRKCNH1
  • HINT

Previous GeneCards Identifiers for HINT1 Gene

  • GC05M131989
  • GC05M130942
  • GC05M130525
  • GC05M130571
  • GC05M130522
  • GC05M125685

Summaries for HINT1 Gene

Entrez Gene Summary for HINT1 Gene

  • 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]

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

Regulatory Elements for HINT1 Gene

Enhancers for HINT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F131214 0.5 Ensembl 22.5 -43.0 -42966 1.0 FOSL1 JUND WRNIP1 FOS FOSL2 HINT1 LYRM7 RAPGEF6 GC05P131204 CDC42SE2
GH05F131208 1.1 Ensembl ENCODE 17.1 -39.2 -39203 5.5 HDGF TBP PKNOX1 TBL1XR1 WRNIP1 BMI1 ZBTB40 CBX5 SCRT2 ZNF143 LYRM7 HINT1 RAPGEF6 GC05P131204 CDC42SE2
GH05F131371 1 FANTOM5 Ensembl ENCODE 17.1 -206.6 -206636 13.5 HDGF PKNOX1 ATF1 ARNT SIN3A ARID4B GATA2 ZNF143 ZNF263 NCOA1 MEIKIN HINT1 LYRM7 CDC42SE2 P4HA2 FNIP1 RAPGEF6 ACSL6 GC05P131366 LOC105379173
GH05F131261 0.2 Ensembl 16.9 -90.0 -89966 0.2 ZNF121 HINT1 LYRM7 ENSG00000279370 GC05P131301
GH05F131262 0.2 ENCODE 16.8 -93.6 -93563 6.0 HDGF CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF48 YY1 GLIS2 CBX5 MEIKIN LYRM7 HINT1 ENSG00000279370 GC05P131301
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around HINT1 on UCSC Golden Path with GeneCards custom track

Promoters for HINT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001289791 835 1801 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A YY1 SLC30A9 ZNF143 SP3

Genomic Location for HINT1 Gene

Chromosome:
5
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

Genes around HINT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HINT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HINT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for HINT1 Gene

  • Ubiquitination at Lys 92
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for HINT1

No data available for DME Specific Peptides for HINT1 Gene

Domains & Families for HINT1 Gene

Protein Domains for HINT1 Gene

Suggested Antigen Peptide Sequences for HINT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P49773

UniProtKB/Swiss-Prot:

HINT1_HUMAN :
  • Contains 1 HIT domain.
  • Belongs to the HINT family.
Domain:
  • Contains 1 HIT domain.
Family:
  • Belongs to the HINT family.
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 IEA --
GO:0005080 protein kinase C binding TAS 9770345
GO:0016787 hydrolase activity IEA,IDA 16835243
genes like me logo Genes that share ontologies with HINT1: view
genes like me logo Genes that share phenotypes with HINT1: view

Human Phenotype Ontology for HINT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HINT1 Gene

MGI Knock Outs for HINT1:

Animal Model Products

miRNA for HINT1 Gene

miRTarBase miRNAs that target HINT1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Transcription Factor Targets 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
cytoskeleton 5
extracellular 5
nucleus 5
plasma membrane 5
cytosol 4

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,TAS --
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 & Interactions 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:0006915 apoptotic process IEA --
GO:0007165 signal transduction TAS 8812426
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 and SIGNOR curated interactions for HINT1 Gene

Drugs & Compounds for HINT1 Gene

(7) Drugs for HINT1 Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra Target, product of 0
Sofosbuvir Approved Pharma 228
Guanosine monophosphate Experimental Pharma Target 0
5'-O-(N-Ethyl-Sulfamoyl)Adenosine Experimental Pharma Target 0
8-Bromo-Adenosine-5'-Monophosphate Experimental Pharma Target 0

(3) Additional Compounds for HINT1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Protein differential expression in normal tissues from HIPED for HINT1 Gene

This gene is overexpressed in Oral epithelium (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HINT1 Gene



Protein tissue co-expression partners for HINT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of HINT1 Gene:

HINT1

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 expression patterns with HINT1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for HINT1 Gene

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 34 35
  • 99.74 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 96 (a)
OneToMany
HINT1 34
  • 94.44 (n)
-- 35
  • 89 (a)
OneToMany
-- 35
  • 81 (a)
OneToMany
cow
(Bos Taurus)
Mammalia HINT1 34 35
  • 92.06 (n)
mouse
(Mus musculus)
Mammalia Hint1 34 16 35
  • 88.62 (n)
rat
(Rattus norvegicus)
Mammalia Hint1 34
  • 88.62 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 87 (a)
OneToMany
-- 35
  • 80 (a)
OneToMany
-- 35
  • 68 (a)
OneToMany
chicken
(Gallus gallus)
Aves CHPKCI 35
  • 83 (a)
OneToMany
HINT1 34
  • 78.57 (n)
HINTW 35 35
  • 46 (a)
OneToMany
-- 35
  • 45 (a)
OneToMany
-- 35
  • 43 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia HINT1 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hint1 34
  • 72.22 (n)
zebrafish
(Danio rerio)
Actinopterygii hint1 34 35
  • 71.16 (n)
Dr.12920 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10667 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006353 34
  • 62.17 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2862 36 34 35
  • 60.85 (n)
worm
(Caenorhabditis elegans)
Secernentea hint-1 34 35
  • 62.24 (n)
F21C3.3 36
  • 61 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HNT1 37
thale cress
(Arabidopsis thaliana)
eudicotyledons HIT3 34
  • 56.61 (n)
rice
(Oryza sativa)
Liliopsida Os03g0322500 34
  • 59.26 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4582 35
  • 62 (a)
OneToOne
Species where no ortholog for HINT1 was found in the sources mined by GeneCards:
  • 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

(2) 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
rs149782619 Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200], Pathogenic 131,165,096(+) CTACC(C/G)GGTCA nc-transcript-variant, reference, missense
rs373849532 Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200], Pathogenic 131,159,494(+) GAGAT(G/T)AACGT nc-transcript-variant, reference, missense
rs397514489 Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200], Pathogenic 131,159,578(-) AGAAA(C/T)GTGCT nc-transcript-variant, reference, missense
rs397514490 Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200], Pathogenic 131,159,562(-) TCTGG(G/T)CCTGA nc-transcript-variant, reference, missense
rs397514491 Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200], Pathogenic 131,162,636(-) AACAC(A/G)TTTTC nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv5808n100 CNV gain 25217958
esv2759379 CNV gain 17122850
esv3575881 CNV gain 25503493

Variation tolerance for HINT1 Gene

Residual Variation Intolerance Score: 51.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.23; 5.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HINT1 Gene

Human Gene Mutation Database (HGMD)
HINT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HINT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HINT1 Gene

Disorders for HINT1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for HINT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
neuromyotonia and axonal neuropathy, autosomal recessive
  • gamstorp-wohlfart syndrome
axonal neuropathy
distal hereditary motor neuropathy
  • dhmn
neuropathy
  • peripheral neuropathy
labyrinthitis
  • labyrinthine disorder
- elite association - COSMIC cancer census association via MalaCards
Search HINT1 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for HINT1

Genetic Association Database (GAD)
HINT1
Human Genome Epidemiology (HuGE) Navigator
HINT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HINT1
genes like me logo Genes that share disorders with HINT1: view

No data available for Genatlas for HINT1 Gene

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 22 64
  2. 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 22 64
  3. Is the histidine triad nucleotide-binding protein 1 (HINT1) gene a candidate for schizophrenia? (PMID: 18799291) Chen Q. … Chen X. (Schizophr. Res. 2008) 3 22 46 64
  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 22 64
  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 64

Products for HINT1 Gene

Sources for HINT1 Gene

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