GENE REFERENCE / HGNC:4912

HINT1

histidine triad nucleotide binding protein 1

protein-coding gene5q23.3Gene information

What does this gene do?

The HINT1 gene provides instructions for making a protein called histidine triad nucleotide-binding protein 1 (HINT1). The function of this protein is not clear. Laboratory studies show that the HINT1 protein has the ability to attach (bind) to certain types of molecules called nucleotides. HINT1 breaks down particular nucleotides through a process called hydrolysis. However, it is not known if the HINT1 protein performs the same reaction in the body or what effects it has.

Although the mechanisms are not completely understood, the HINT1 protein is involved in the nervous system. In nerve cells (neurons), HINT1 binds to signaling proteins called receptors that relay signals affecting nervous system function. HINT1 appears to stabilize the interaction of different receptors and regulate the effects of their signaling.

The HINT1 protein is also involved in programmed cell death (apoptosis), which occurs when cells are no longer needed. In addition, by blocking the activity of certain genes, HINT1 acts as a tumor suppressor, which means that it keeps cells from growing and dividing too rapidly or in an uncontrolled way.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2014-08.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
Charcot-Marie-Tooth diseaseMONDO:0015626 · Evaluated 2021-03-22	Autosomal recessive	DefinitiveCharcot-Marie-Tooth Disease Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 170
Submissions for variants in or overlapping this gene: 260
Submissions explicitly reporting this gene: 235
Alleles reported pathogenic / likely pathogenic: 32
VariationIDs with uncertain significance: 60
VariationIDs with conflicting classifications: 5

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about HINT1?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 32 alleles in HINT1 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in HINT1.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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