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 autoso... See more...

Aliases for HINT1 Gene

Aliases for HINT1 Gene

  • Histidine Triad Nucleotide Binding Protein 1 2 3 5
  • PKCI-1 2 3 4
  • Histidine Triad Nucleotide-Binding Protein 1 3 4
  • Protein Kinase C-Interacting Protein 1 3 4
  • Adenosine 5'-Monophosphoramidase 3 4
  • Protein Kinase C Inhibitor 1 3 4
  • PRKCNH1 3 4
  • HINT 3 4
  • Histidine Triad Nucleotide-Binding Protein 2
  • Epididymis Secretory Sperm Binding Protein 3
  • EC 3.-.-.- 4
  • HINT1 5
  • 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 Charcot-Marie-Tooth Disease/Hereditary Motor And Sensory Neuropathy. Gene Ontology (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 Summary for HINT1 Gene

  • Hydrolyzes purine nucleotide phosphoramidates with a single phosphate group, including adenosine 5'monophosphoramidate (AMP-NH2), adenosine 5'monophosphomorpholidate (AMP-morpholidate) and guanosine 5'monophosphomorpholidate (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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HINT1 Gene

Genomics for HINT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HINT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J131163 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 606.5 +7.2 7200 3.1 HNRNPL GATAD2A TFE3 IKZF1 NFKBIZ ZNF692 POLR2A RCOR2 BACH1 JUND HINT1 HE855918 RAPGEF6 FNIP1 LYRM7 lnc-HINT1-1
GH05J131169 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.8 787 2.5 BRCA1 ARHGAP35 SP1 CREB1 GATAD2A PRDM10 ZNF629 REST TFE3 RFX1 LYRM7 HINT1 lnc-HINT1-1
GH05J131262 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 16.9 -93.8 -93811 6.5 CTCF HNRNPL PRDM10 IKZF1 KDM1A POLR2A BACH1 JUND LARP7 PRDM1 lnc-HINT1-5 CDC42SE2 MEIKIN LYRM7 HINT1 RF00017-4872 lnc-CDC42SE2-1 RAPGEF6
GH05J131373 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 17.1 -207.0 -206996 12.8 GATAD2A CTCF LEF1 JUND ZNF143 RELA PKNOX1 ZNF24 REST RAD21 MEIKIN HINT1 LYRM7 CDC42SE2 P4HA2 FNIP1 RAPGEF6 ACSL6 lnc-RAPGEF6-1 RF00017-4875
GH05J131208 Promoter/Enhancer 1.2 EPDnew ENCODE 17.1 -39.3 -39329 5.2 BACH1 LARP7 STAT3 ZNF143 RELA TCF12 IKZF2 POLR2A TRIM22 PKNOX1 CDC42SE2 LYRM7 HINT1 RAPGEF6 lnc-LYRM7-3 lnc-HINT1-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HINT1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HINT1

Top Transcription factor binding sites by QIAGEN in the HINT1 gene promoter:
  • ATF-2
  • E4BP4
  • Evi-1
  • Sox5

Genomic Locations for HINT1 Gene

Genomic Locations for HINT1 Gene
chr5:131,159,027-131,171,735
(GRCh38/hg38)
Size:
12,709 bases
Orientation:
Minus strand
chr5:130,494,720-130,507,428
(GRCh37/hg19)
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 Lys7, Lys21, Lys30, and Lys92
  • 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

Gene Families for HINT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for HINT1 Gene

InterPro:
Blocks:
  • Histidine triad (HIT) protein
ProtoNet:

Suggested Antigen Peptide Sequences for HINT1 Gene

GenScript: Design optimal peptide antigens:
  • Protein kinase C-interacting protein 1 (HINT1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P49773

UniProtKB/Swiss-Prot:

HINT1_HUMAN :
  • Belongs to the HINT family.
Family:
  • Belongs to the HINT family.
genes like me logo Genes that share domains with HINT1: view

Function for HINT1 Gene

Molecular function for HINT1 Gene

UniProtKB/Swiss-Prot Function:
Hydrolyzes purine nucleotide phosphoramidates with a single phosphate group, including adenosine 5'monophosphoramidate (AMP-NH2), adenosine 5'monophosphomorpholidate (AMP-morpholidate) and guanosine 5'monophosphomorpholidate (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

Phenotypes From GWAS Catalog 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

CRISPR Products

miRNA for HINT1 Gene

miRTarBase miRNAs that target HINT1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HINT1

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HINT1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
extracellular 4
cytoskeleton 4
mitochondrion 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
  • Plasma membrane (3)
See all subcellular structures

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 TAS,IBA 21873635
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IBA 21873635
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with HINT1: view

Pathways & Interactions for HINT1 Gene

PathCards logo

SuperPathways for HINT1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HINT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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
GO:0050850 positive regulation of calcium-mediated signaling IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved, Investigational Nutra Target, product of 0
Sofosbuvir Approved Pharma Enzyme, substrate 368
Nicotine Approved Pharma Antagonist, Activator, Activation 1518
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
genes like me logo Genes that share compounds with HINT1: view

Transcripts for HINT1 Gene

mRNA/cDNA for HINT1 Gene

1 REFSEQ mRNAs :
25 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HINT1

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

Expression for HINT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for HINT1 Gene



Protein tissue co-expression partners for HINT1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for HINT1 Gene

  • Liver(4.8)
  • Nervous system(4.6)
  • Blood(4.6)
  • Skin(3.2)
  • Heart(3.2)
  • Muscle(2.9)
  • Lung(2.9)
  • Kidney(2.9)
  • Intestine(2.7)
  • Pancreas(2.7)
  • Lymph node(2.6)
  • Bone marrow(2.6)
  • Spleen(2.5)
  • Adrenal gland(2.5)
  • Thyroid gland(2.5)
  • Stomach(2.5)
  • Eye(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HINT1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Limb:
  • foot
  • lower limb
  • shin
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with HINT1: view

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 30 31
  • 99.74 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 31
  • 96 (a)
OneToMany
HINT1 30
  • 94.44 (n)
-- 31
  • 89 (a)
OneToMany
-- 31
  • 81 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia HINT1 30 31
  • 92.06 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Hint1 30 17 31
  • 88.62 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hint1 30
  • 88.62 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 87 (a)
OneToMany
-- 31
  • 80 (a)
OneToMany
-- 31
  • 68 (a)
OneToMany
Chicken
(Gallus gallus)
Aves CHPKCI 31
  • 83 (a)
OneToMany
HINT1 30
  • 78.57 (n)
HINTW 31 31
  • 46 (a)
OneToMany
-- 31
  • 45 (a)
OneToMany
-- 31
  • 43 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia HINT1 31
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hint1 30
  • 72.22 (n)
Zebrafish
(Danio rerio)
Actinopterygii hint1 30 31
  • 71.16 (n)
OneToOne
Dr.12920 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10667 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006353 30
  • 62.17 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG2862 30 31 32
  • 60.85 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea hint-1 30 31
  • 62.24 (n)
OneToMany
F21C3.3 32
  • 61 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HNT1 33
Thale Cress
(Arabidopsis thaliana)
eudicotyledons HIT3 30
  • 56.61 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0322500 30
  • 59.26 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4582 31
  • 62 (a)
OneToOne
Species where no ortholog for HINT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for HINT1: view image

Paralogs for HINT1 Gene

Paralogs for HINT1 Gene

(2) SIMAP similar genes for HINT1 Gene using alignment to 6 proteins:

  • HINT1_HUMAN
  • D6RC06_HUMAN
  • D6RD60_HUMAN
  • D6RE99_HUMAN
  • D6REP8_HUMAN
  • H0YC49_HUMAN

Pseudogenes.org Pseudogenes for HINT1 Gene

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

Variants for HINT1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HINT1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
637252 Pathogenic: Charcot-Marie-Tooth disease; not provided 131,159,512(-) G/A NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
637253 Uncertain Significance: Charcot-Marie-Tooth disease 131,159,487(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
637254 Uncertain Significance: Charcot-Marie-Tooth disease 131,159,460(-) C/T NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
637941 Uncertain Significance: Charcot-Marie-Tooth disease 131,162,606(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
645822 Likely Pathogenic: Autosomal recessive axonal neuropathy with neuromyotonia 131,165,204(-) A/G INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for HINT1 Gene

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)

Additional Variant Information for HINT1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for HINT1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for HINT1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
neuromyotonia and axonal neuropathy, autosomal recessive
  • nman
charcot-marie-tooth disease/hereditary motor and sensory neuropathy
  • charcot-marie-tooth hereditary neuropathy
charcot-marie-tooth disease
  • peroneal muscular atrophy
axonal neuropathy
neuropathy
  • peripheral neuropathy
- 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:16835243, ECO:0000269 PubMed:22961002}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for HINT1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 PM … Christman MF (Genomics 1996) 2 3 4 23
  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 IB (The Journal of biological chemistry 2009) 3 4 23
  3. Is the histidine triad nucleotide-binding protein 1 (HINT1) gene a candidate for schizophrenia? (PMID: 18799291) Chen Q … Chen X (Schizophrenia research 2008) 3 23 41
  4. Three-dimensional structure of human protein kinase C interacting protein 1, a member of the HIT family of proteins. (PMID: 8643579) Lima CD … Hendrickson WA (Proceedings of the National Academy of Sciences of the United States of America 1996) 3 4 23
  5. The tumor suppressor HINT1 regulates MITF and β-catenin transcriptional activity in melanoma cells. (PMID: 22647378) Genovese G … Sgambato A (Cell cycle (Georgetown, Tex.) 2012) 3 4

Products for HINT1 Gene

Sources for HINT1 Gene