|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
3094
|
|
Gene name
Gene Name - the full gene name approved by the HGNC.
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Histidine triad nucleotide binding protein 1 |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
HINT1 |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
|
HINT, NMAN, PKCI-1, PRKCNH1 |
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Chromosome
Chromosome number
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5 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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5q23.3 |
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Summary
Summary of gene provided in NCBI Entrez 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 |
| 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 |
|
rs397514492 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
|
rs397514493 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs762701283 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs1554088064 |
C>T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1561537267 |
T>C |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1580686455 |
A>G |
Likely-pathogenic |
Initiator codon variant, missense variant, non coding transcript variant |
|
| UniProt ID |
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
|
|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Axonal Neuropathy With Neuromyotonia |
autosomal recessive axonal neuropathy with neuromyotonia |
rs762701283, rs149782619, rs1580682390, rs397514489, rs397514490, rs1028404937, rs1561535921, rs373849532, rs1580686455, rs397514491, rs397514492, rs397514493, rs1554088064 |
N/A |
| Charcot-Marie-Tooth Disease |
Charcot-Marie-Tooth Disease |
rs1580682390, rs1028404937 |
N/A |
| Peripheral Neuropathy |
peripheral neuropathy |
rs149782619, rs397514490 |
N/A |
|
|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Asthma |
Age of onset of childhood onset asthma |
N/A |
N/A |
GWAS |
| Crohn Disease |
Crohn's disease |
N/A |
N/A |
GWAS |
| Dermatitis |
Atopic dermatitis |
N/A |
N/A |
GWAS |
| Gout |
Gout |
N/A |
N/A |
GWAS |
| Inflammatory Bowel Disease |
Inflammatory bowel disease |
N/A |
N/A |
GWAS |
| Psoriasis |
Psoriasis |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease 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 |
| Colorectal Neoplasms |
Associate
|
10555761 |
| Crohn Disease |
Inhibit
|
38103512 |
| Diplopia |
Associate
|
35501818 |
| Distal Hereditary Motor Neuropathy Type II |
Associate
|
24105373, 36242072 |
| Giant Axonal Neuropathy |
Associate
|
33663550, 35501818 |
| Hyperkinesis |
Associate
|
39596683 |
| Inflammatory Bowel Diseases |
Associate
|
38103512 |
| Intellectual Disability |
Associate
|
39596683 |
| Isaacs Syndrome |
Associate
|
24105373, 33663550, 34562060, 35501818, 36242072, 39596683 |
| Jensen syndrome |
Associate
|
39596683 |
| Leukemia Myelogenous Chronic BCR ABL Positive |
Associate
|
26460262 |
| Leukemia Myeloid Acute |
Associate
|
30480765 |
| Muscle Cramp |
Associate
|
33663550 |
| Muscle Neoplasms |
Associate
|
33663550 |
| Muscular dystrophy congenital with central nervous system involvement |
Associate
|
33663550 |
| Myasthenia Gravis |
Associate
|
35501818 |
| Myokymia |
Associate
|
39596683 |
| Neoplasms |
Inhibit
|
15256063, 16835243, 19089909, 19112177, 27623945, 35241097 |
| Neoplasms |
Associate
|
16835243, 19081673, 28768489 |
| Neoplastic Syndromes Hereditary |
Associate
|
35501818 |
| Nervous System Diseases |
Inhibit
|
30622225 |
| Nervous System Diseases |
Associate
|
34562060 |
| Neuronopathy Distal Hereditary Motor Type V |
Associate
|
24105373 |
| Peripheral Nervous System Diseases |
Associate
|
33663550, 34562060, 35501818 |
| Personality Disorders |
Associate
|
37373392 |
| Polyneuropathies |
Associate
|
36242072 |
| Prostatic Neoplasms |
Associate
|
24386364 |
| Ptosis Hereditary Congenital 2 |
Associate
|
35501818 |
| Shoulder Fractures |
Associate
|
33663550 |
|