Gene: HINT1
Alternate names for this Gene: HINT|NMAN|PKCI-1|PRKCNH1
Gene 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 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.
Gene is located in Chromosome: 5
Location in Chromosome : 5q23.3
Description of this Gene: histidine triad nucleotide binding protein 1
Type of Gene: protein-coding
rs202135714 in
HINT1 gene and
Blood Protein Measurement
PMID 29875488 2018 Genomic atlas of the human plasma proteome.
rs149782619 in
HINT1 gene and
Isaacs syndrome
PMID 22961002 2012 Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
PMID 27549087 2016 Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
PMID 26182879 2015 A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States.
PMID 25342199 2015 Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom.
PMID 16835243 2006 The histidine triad protein Hint1 triggers apoptosis independent of its enzymatic activity.