Aliases for HINT1 Gene
Aliases for HINT1 Gene
External Ids for HINT1 Gene
- HGNC: 4912
- Entrez Gene: 3094
- Ensembl: ENSG00000169567
- OMIM: 601314
- UniProtKB: P49773
Previous HGNC Symbols for HINT1 Gene
- PRKCNH1
- HINT
Previous GeneCards Identifiers for HINT1 Gene
- GC05M131989
- GC05M130942
- GC05M130525
- GC05M130571
- GC05M130522
- GC05M125685
Summaries 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.
No data available for CIViC summary , 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
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HINT1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the HINT1 gene promoter:
Regulatory Element Products
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:
-
- 5q23.3 by Ensembl
- 5q23.3 by Entrez Gene
- 5q23.3 by HGNC
HINT1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for HINT1 Gene
Post-translational modifications for HINT1 Gene
Other Protein References for HINT1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for HINT1
- Novus Biologicals Antibodies for HINT1
-
Abcam antibodies for HINT1
- Invitrogen Antibodies for HINT1
- antibodies-online Antibodies for HINT1: See all 64
- GeneTex HINT1 antibody for HINT1
-
Custom Antibody ServicesProSci Antibodies for HINT1
-
Santa Cruz Biotechnology (SCBT) Antibodies for HINT1
Protein Products
-
OriGene Purified Proteins for HINT1
- Search Origene for MassSpec and Protein Over-expression Lysates for HINT1
- Origene Custom Protein Services for HINT1
- ProSpec Recombinant Proteins for HINT1
- antibodies-online Proteins for HINT1: See all 19
- Search antibodies-online for peptides
- Search GeneTex for Proteins for HINT1
-
Abcam proteins for HINT1
Assay Products
- antibodies-online Kits for HINT1: See all 1
No data available for DME Specific Peptides for HINT1 Gene
Domains & Families for HINT1 Gene
Protein Domains for HINT1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for HINT1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P49773- Family:
-
- Belongs to the HINT family.
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
| 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 | IDA,IEA | 16835243 |
Phenotypes for HINT1 Gene
- MGI mutant phenotypes for HINT1:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for HINT1:
Animal Models for HINT1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HINT1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HINT1 gene
- Search ViGene Biosciences for HINT1
CRISPR Products
-
OriGene CRISPR knockouts for HINT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for HINT1
- GenScript: Design CRISPR guide RNA sequences for HINT1
miRNA for HINT1 Gene
- miRTarBase miRNAs that target HINT1
-
- hsa-mir-744-5p (MIRT037482)
- hsa-mir-183-5p (MIRT047137)
- hsa-mir-578 (MIRT448745)
- hsa-mir-675-3p (MIRT448746)
- hsa-mir-526b-5p (MIRT448747)
- hsa-mir-4795-3p (MIRT448748)
- hsa-mir-3924 (MIRT448749)
- hsa-mir-4635 (MIRT448750)
- hsa-mir-944 (MIRT448751)
- hsa-mir-4282 (MIRT448752)
- hsa-mir-216b-5p (MIRT448753)
- hsa-mir-3613-3p (MIRT623693)
- hsa-mir-548x-3p (MIRT623694)
- hsa-mir-548j-3p (MIRT623695)
- hsa-mir-548aq-3p (MIRT623696)
- hsa-mir-548am-3p (MIRT623697)
- hsa-mir-548aj-3p (MIRT623698)
- hsa-mir-548ah-3p (MIRT623699)
- hsa-mir-548ae-3p (MIRT623700)
- hsa-mir-6513-5p (MIRT638586)
- hsa-mir-887-5p (MIRT638587)
- hsa-mir-3913-5p (MIRT638588)
- hsa-mir-3122 (MIRT638589)
- hsa-mir-450a-1-3p (MIRT638590)
- hsa-mir-6780a-5p (MIRT638591)
- hsa-mir-6779-5p (MIRT638592)
- hsa-mir-3689c (MIRT638593)
- hsa-mir-3689b-3p (MIRT638594)
- hsa-mir-3689a-3p (MIRT638595)
- hsa-mir-30b-3p (MIRT638596)
- hsa-mir-1273h-5p (MIRT638597)
- hsa-mir-6788-5p (MIRT638598)
- hsa-mir-30c-2-3p (MIRT638599)
- hsa-mir-30c-1-3p (MIRT638600)
- hsa-mir-6799-5p (MIRT638601)
- hsa-mir-6785-5p (MIRT638602)
- hsa-mir-6883-5p (MIRT638603)
- hsa-mir-4728-5p (MIRT638604)
- hsa-mir-149-3p (MIRT638605)
- hsa-mir-7106-5p (MIRT638606)
- hsa-mir-24-3p (MIRT638607)
- hsa-mir-4284 (MIRT638608)
- hsa-mir-4733-5p (MIRT638609)
- hsa-mir-27b-3p (MIRT664291)
- hsa-mir-27a-3p (MIRT664292)
- hsa-mir-650 (MIRT664293)
- hsa-mir-3612 (MIRT664294)
- hsa-mir-2467-3p (MIRT664295)
- hsa-mir-1827 (MIRT664296)
- hsa-mir-3192-5p (MIRT664297)
- hsa-mir-3681-3p (MIRT664298)
- hsa-mir-4257 (MIRT664299)
- hsa-mir-216a-3p (MIRT664300)
- hsa-mir-128-3p (MIRT664301)
- hsa-mir-370-5p (MIRT664302)
- hsa-mir-6511a-5p (MIRT664303)
- hsa-mir-7851-3p (MIRT664304)
- hsa-mir-1910-3p (MIRT664305)
- hsa-mir-490-3p (MIRT664306)
- hsa-mir-1224-3p (MIRT664307)
- hsa-mir-1306-5p (MIRT664308)
miRNA Products
- Search ViGene Biosciences for HINT1
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HINT1
- Browse OriGene Inhibitory RNA Products For HINT1
-
ViGene Biosciences ready-to-package AAV shRNAs for HINT1 gene
Clone Products
-
OriGene ORF clones in human for HINT1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for HINT1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Cell Line Products
-
Horizon Cell Lines for HINT1
-
ViGene Biosciences adenoviral particle packaged cDNA for HINT1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HINT1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HINT1 gene
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| cytoskeleton | 5 |
| nucleus | 5 |
| cytosol | 5 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000118 | histone deacetylase complex | IDA | 16835243 |
| GO:0005634 | nucleus | IDA,TAS | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IDA | -- |
| GO:0005856 | cytoskeleton | TAS | 8812426 |
Pathways & Interactions for HINT1 Gene
No Data Available
Interacting Proteins for HINT1 Gene
Selected Interacting proteins:
ENSP00000304229
P49773-HINT1_HUMAN
for HINT1 Gene via
STRING
MINT
IID
| 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 |
No data available for Pathways by source and SIGNOR curated interactions for HINT1 Gene
Drugs & Compounds for HINT1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Adenosine monophosphate | Approved | Nutra | Target, product of | 0 | ||
| Sofosbuvir | Approved | Pharma | 259 | |||
| 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 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for HINT1 Gene
mRNA/cDNA for HINT1 Gene
- (2) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (569) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HINT1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for HINT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for HINT1
- GenScript: Design CRISPR guide RNA sequences for HINT1
miRNA Products
- Search ViGene Biosciences for HINT1
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HINT1
- Browse OriGene Inhibitory RNA Products For HINT1
-
ViGene Biosciences ready-to-package AAV shRNAs for HINT1 gene
Clone Products
-
OriGene ORF clones in human for HINT1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for HINT1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Flow Cytometry Products
| 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: |
Expression 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
NURSA nuclear receptor signaling pathways regulating expression of HINT1 Gene:
HINT1SOURCE GeneReport for Unigene cluster for HINT1 Gene:
Hs.483305mRNA Expression by UniProt/SwissProt for HINT1 Gene:
P49773-HINT1_HUMAN
Tissue specificity:
Widely expressed.
Evidence on tissue expression from TISSUES for HINT1 Gene
- Liver(4.7)
- Nervous system(4.6)
- Blood(4.5)
- Heart(2.7)
- Lung(2.7)
- Muscle(2.4)
- Kidney(2.1)
- Lymph node(2.1)
- Pancreas(2.1)
- Adrenal gland(2)
- Bone marrow(2)
- Thyroid gland(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for HINT1 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- integumentary
- nervous
- skeletal muscle
- skeleton
Organs:
Limb:
- foot
- lower limb
- shin
General:
- peripheral nerve
- peripheral nervous system
- skin
- sweat gland
Primer Products
-
OriGene qPCR primer pairs for HINT1
-
OriGene qPCR primer pairs and template standards for HINT1
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HINT1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | -- 35 |
|
OneToMany | |
| HINT1 34 |
|
||||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | HINT1 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Hint1 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hint1 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | CHPKCI 35 |
|
OneToMany | |
| HINT1 34 |
|
||||
| HINTW 35 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| lizard (Anolis carolinensis) |
Reptilia | HINT1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hint1 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | hint1 34 35 |
|
||
| Dr.12920 34 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10667 34 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006353 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG2862 36 34 35 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | hint-1 34 35 |
|
||
| F21C3.3 36 |
|
|
|||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | HNT1 37 |
|
|
|
| thale cress (Arabidopsis thaliana) |
eudicotyledons | HIT3 34 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os03g0322500 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.4582 35 |
|
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)
Paralogs for HINT1 Gene
(2) SIMAP similar genes for HINT1 Gene using alignment to 6 proteins:
Pseudogenes.org Pseudogenes for HINT1 Gene
Variants for HINT1 Gene
| SNP ID | Clin | Chr 05 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs149782619 | Pathogenic, Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200] | 131,165,096(+) | CTACC(C/G)GGTCA | nc-transcript-variant, reference, missense | |
| rs373849532 | Pathogenic, Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200] | 131,159,494(+) | GAGAT(G/T)AACGT | nc-transcript-variant, reference, missense | |
| rs397514489 | Pathogenic, Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200] | 131,159,578(-) | AGAAA(C/T)GTGCT | nc-transcript-variant, reference, missense | |
| rs397514490 | Pathogenic, Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200] | 131,159,562(-) | TCTGG(G/T)CCTGA | nc-transcript-variant, reference, missense | |
| rs397514491 | Pathogenic, Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200] | 131,162,636(-) | AACAC(A/G)TTTTC | nc-transcript-variant, reference, missense |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv5808n100 | CNV | gain | 25217958 |
| esv2759379 | CNV | gain | 17122850 |
| esv3575881 | CNV | gain | 25503493 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HINT1 Gene
Disorders for HINT1 Gene
(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 |
|
|
| axonal neuropathy |
|
|
| neuropathy |
|
|
| chronic purulent otitis media |
|
|
| distal hereditary motor neuropathy |
|
|
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.
Relevant External Links for HINT1
No data available for Genatlas for HINT1 Gene
Publications for HINT1 Gene
- 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
- 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
- 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
- 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
- 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
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- OriGene Purified Proteins for HINT1
- Search Origene for MassSpec and Protein Over-expression Lysates for HINT1
- Origene Custom Protein Services for HINT1
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for HINT1
- Browse OriGene Inhibitory RNA Products For HINT1
- OriGene qPCR primer pairs and template standards for HINT1
- OriGene qPCR primer pairs for HINT1
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For HINT1
- GenScript: Next-day shipping cDNA ORF clone for HINT1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for HINT1
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- GenScript: Design CRISPR guide RNA sequences for HINT1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for HINT1
- Sino Biological Human cDNA Clone for HINT1
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- Novus Biologicals Antibodies for HINT1
- Novus Biologicals proteins and lysates for HINT1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for HINT1
- Abcam proteins for HINT1
- Search for Assays for HINT1 at Abcam
- Find your target
- Search knockout validated antibodies
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- ProSpec Recombinant Proteins for HINT1
- antibodies-online Antibodies for HINT1: See all 64
- antibodies-online Kits for HINT1: See all 1
- antibodies-online Proteins for HINT1: See all 19
- Search antibodies-online for peptides
- GeneTex HINT1 antibody for HINT1
- Search GeneTex for Proteins for HINT1
- ViGene Biosciences adenoviral particle packaged cDNA for HINT1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for HINT1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for HINT1 gene
- Search ViGene Biosciences for HINT1
- Santa Cruz Biotechnology (SCBT) Antibodies for HINT1
- Search Santa Cruz Biotechnology (SCBT) for HINT1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for HINT1
- Custom Antibody ServicesProSci Antibodies for HINT1
- Search for HINT1 Proteins at ProSci
- Horizon Cell Lines for HINT1
- Cyagen custom Knockout/knockin (KOKI) mouse models for HINT1
- VectorBuilder custom plasmid, inducible vectors for HINT1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HINT1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HINT1 Gene
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