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Aliases for HINT1 Gene

Aliases for HINT1 Gene

  • Histidine Triad Nucleotide Binding Protein 1 2 3
  • 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 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

  • 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 labyrinthitis. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

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

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

  • Ubiquitination at Lys 92
  • Modification sites at PhosphoSitePlus

Antibody Products

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 --
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:

Animal Model Products

miRNA for HINT1 Gene

miRTarBase miRNAs that target HINT1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HINT1

In Situ Assay 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
extracellular 5
nucleus 5
cytoskeleton 4
plasma membrane 4
cytosol 2

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 & 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: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 and SIGNOR curated interactions for HINT1 Gene

Drugs & Compounds for HINT1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra Target, product of 0
sofosbuvir Approved Pharma 0
Zinc Approved Pharma 1404
Guanosine monophosphate Experimental Pharma Target 0
5'-O-(N-Ethyl-Sulfamoyl)Adenosine Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Adenosine 5-monophosphoramidate
adenylate
purine
  • 1H-Purine
  • 6H-Imidazo[4,5-D]pyrimidine
  • 7-Methyltheophylline
  • 7H-Imidazo(4,5-D)pyrimidine
  • 7H-Purine
120-73-0
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HINT1

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, 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 expression patterns with HINT1: view

Protein tissue co-expression partners for HINT1 Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia HINT1 35
  • 92.06 (n)
  • 94.44 (a)
HINT1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HINT1 35
  • 94.44 (n)
  • 96.83 (a)
-- 36
  • 96 (a)
OneToMany
-- 36
  • 81 (a)
OneToMany
-- 36
  • 89 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Hint1 35
  • 88.62 (n)
  • 94.44 (a)
Hint1 16
Hint1 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HINT1 35
  • 99.74 (n)
  • 100 (a)
HINT1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hint1 35
  • 88.62 (n)
  • 94.44 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 68 (a)
OneToMany
-- 36
  • 87 (a)
OneToMany
-- 36
  • 80 (a)
OneToMany
chicken
(Gallus gallus)
Aves HINT1 35
  • 78.57 (n)
  • 82.54 (a)
-- 36
  • 43 (a)
OneToMany
-- 36
  • 45 (a)
OneToMany
CHPKCI 36
  • 83 (a)
OneToMany
HINTW 36
  • 46 (a)
OneToMany
HINTW 36
  • 46 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia HINT1 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hint1 35
  • 72.22 (n)
  • 77.78 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.12920 35
hint1 35
  • 71.16 (n)
  • 73.02 (a)
hint1 36
  • 73 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10667 35
fruit fly
(Drosophila melanogaster)
Insecta CG2862 37
  • 67 (a)
CG2862 35
  • 60.85 (n)
  • 67.46 (a)
CG2862 36
  • 57 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006353 35
  • 62.17 (n)
  • 65.08 (a)
worm
(Caenorhabditis elegans)
Secernentea F21C3.3 37
  • 61 (a)
hint-1 35
  • 62.24 (n)
  • 66.37 (a)
hint-1 36
  • 62 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HNT1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons HIT3 35
  • 56.61 (n)
  • 51.59 (a)
rice
(Oryza sativa)
Liliopsida Os03g0322500 35
  • 59.26 (n)
  • 53.17 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4582 36
  • 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

(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 MAF
VAR_069212 Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN)
VAR_069213 Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN)
VAR_069214 Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN)
VAR_069215 Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN)
VAR_069216 Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN)

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

Variation tolerance for HINT1 Gene

Residual Variation Intolerance Score: 51.76% 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

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

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

Disorders for HINT1 Gene

MalaCards: The human disease database

(8) 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
labyrinthitis
  • unspecified labyrinthitis
distal hereditary motor neuropathy
  • dhmn
axonal neuropathy
chronic purulent otitis media
  • chronic suppurative otitis media
- elite association
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. Lysyl-tRNA synthetase-generated lysyl-adenylate is a substrate for histidine triad nucleotide binding proteins. (PMID: 17158446) Chou T.F. … Wagner C.R. (J. Biol. Chem. 2007) 23 25 67
  2. Phosphoramidate pronucleotides: a comparison of the phosphoramidase substrate specificity of human and Escherichia coli histidine triad nucleotide binding proteins. (PMID: 17217311) Chou T.F. … Wagner C.R. (Mol. Pharm. 2007) 23 25 67
  3. 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 23 67
  4. Proteomic profiling of the retinal dysplasia and degeneration chick retina. (PMID: 20069063) Finnegan S. … Curry W.J. (Mol. Vis. 2010) 23 67
  5. Immunoscreening of urinary bladder cancer cDNA library and identification of potential tumor antigen. (PMID: 18828023) Chen L. … Li X. (World J Urol 2009) 23 67

Products for HINT1 Gene

Sources for HINT1 Gene

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