Gene Gene information from NCBI Gene database.
Entrez ID 3094
Gene name Histidine triad nucleotide binding protein 1
Gene symbol HINT1
Synonyms (NCBI Gene)
HINTNMANPKCI-1PRKCNH1
Chromosome 5
Chromosome location 5q23.3
Summary 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
SNPs SNP information provided by dbSNP.
11
SNP ID Visualize variation Clinical significance Consequence
rs149782619 C>G,T Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs373849532 G>T Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs397514489 A>G Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs397514490 C>A,G Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs397514491 T>C Pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
182
miRTarBase ID miRNA Experiments Reference
MIRT047137 hsa-miR-183-5p CLASH 23622248
MIRT037482 hsa-miR-744-5p CLASH 23622248
MIRT623700 hsa-miR-548ae-3p HITS-CLIP 23824327
MIRT623699 hsa-miR-548ah-3p HITS-CLIP 23824327
MIRT623698 hsa-miR-548aj-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0000118 Component Histone deacetylase complex IDA 16835243
GO:0000166 Function Nucleotide binding IEA
GO:0003824 Function Catalytic activity IEA
GO:0005080 Function Protein kinase C binding TAS 9770345
GO:0005515 Function Protein binding IPI 10958787, 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601314 4912 ENSG00000169567
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P49773
Protein name Adenosine 5'-monophosphoramidase HINT1 (EC 3.9.1.-) (Desumoylating isopeptidase HINT1) (EC 3.4.22.-) (Histidine triad nucleotide-binding protein 1) (Protein kinase C inhibitor 1) (Protein kinase C-interacting protein 1) (PKCI-1)
Protein function Exhibits adenosine 5'-monophosphoramidase activity, hydrolyzing purine nucleotide phosphoramidates with a single phosphate group such as adenosine 5'monophosphoramidate (AMP-NH2) to yield AMP and NH2 (PubMed:15703176, PubMed:16835243, PubMed:172
PDB 1AV5 , 1KPA , 1KPB , 1KPC , 1KPE , 1KPF , 3TW2 , 4EQE , 4EQG , 4EQH , 4ZKL , 4ZKV , 5ED3 , 5ED6 , 5EMT , 5I2E , 5I2F , 5IPB , 5IPC , 5IPD , 5IPE , 5KLY , 5KLZ , 5KM0 , 5KM1 , 5KM2 , 5KM3 , 5KM4 , 5KM6 , 5KMA , 5KMB , 5KMC , 5O8I , 5WA8 , 5WA9 , 5WAA , 6B42 , 6G9Z , 6J53 , 6J58 , 6J5S , 6J5Z , 6J64 , 6J65 , 6N3V , 6N3W , 6N3X , 6N3Y , 6YQM , 7Q2U , 8P8P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01230 HIT 24 121 HIT domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed.
Sequence
Sequence length 126
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
108
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive axonal neuropathy with neuromyotonia Pathogenic; Likely pathogenic rs2149654884, rs145306016, rs2149651165, rs2149654857, rs1289497047, rs397514493, rs2479570025, rs2479569695, rs149782619, rs397514489, rs397514490, rs373849532, rs397514491, rs397514492, rs1554088064
View all (5 more)
RCV001353160
RCV001382703
RCV001807937
RCV002031398
RCV001960537
RCV002222120
RCV002616893
RCV003531782
RCV000030852
RCV000030853
RCV000030854
RCV000030855
RCV000030856
RCV000030857
RCV000030858
RCV000656698
RCV000656699
RCV001353157
RCV001215650
RCV000816232
RCV000799984
Charcot-Marie-Tooth disease Pathogenic rs1580682390, rs1028404937 RCV000789326
RCV000789324
Peripheral neuropathy Pathogenic; Likely pathogenic rs149782619, rs397514490 RCV001814014
RCV001814015
Sensory axonal neuropathy Likely pathogenic rs1561537267 RCV000678468
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Likely benign rs149224817 RCV005914580
Hepatocellular carcinoma Benign rs2278060 RCV005905716
HINT1-related disorder Benign; Likely benign rs139624223, rs150581567 RCV003935557
RCV003967925
Malignant lymphoma, large B-cell, diffuse Benign rs2278060 RCV005905718
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alcoholic Neuropathy Associate 24105373, 34562060, 35501818, 39596683
Alzheimer Disease Associate 34225819
Alzheimer Disease Inhibit 36195955
Anxiety Associate 37373392, 38279213
Autistic Disorder Associate 36150388
Carcinogenesis Associate 15256063
Carcinoma Hepatocellular Associate 19081673, 19089909, 27623945, 35241097
Carcinoma Non Small Cell Lung Associate 15256063
Charcot Marie Tooth Disease Associate 25231362, 26556829, 35325986, 36242072, 39596683
Charcot Marie Tooth disease Type 4E Associate 36242072