InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HINT1

Summary

InnateDB Protein

IDBP-40325.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HINT1

Protein Name

histidine triad nucleotide binding protein 1

Synonyms

HINT; NMAN; PKCI-1; PRKCNH1;

Species

Homo sapiens

Ensembl Protein

ENSP00000304229

InnateDB Gene

IDBG-40323 (HINT1)

Protein Structure

UniProt Annotation

Function

Hydrolyzes purine nucleotide phosphoramidates with a single phosphate group, including adenosine 5'monophosphoramidate (AMP-NH2), adenosine 5'monophosphomorpholidate (AMP-morpholidate) and guanosine 5'monophosphomorpholidate (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. {ECO:0000269PubMed:15703176, ECO:0000269PubMed:16014379, ECO:0000269PubMed:16835243, ECO:0000269PubMed:19112177, ECO:0000269PubMed:22329685, ECO:0000269PubMed:22647378, ECO:0000269PubMed:9323207}.

Subcellular Localization

Cytoplasm. Nucleus. Note=Interaction with CDK7 leads to a more nuclear localization.

Disease Associations

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:0000269PubMed:22961002}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.

Experimentally validated
Total	26 [view]
Protein-Protein	26 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0003824	catalytic activity
GO:0005080	protein kinase C binding
GO:0016787	hydrolase activity

Biological Process

GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0007165	signal transduction
GO:0009154	purine ribonucleotide catabolic process
GO:0072332	intrinsic apoptotic signaling pathway by p53 class mediator

Cellular Component

GO:0000118	histone deacetylase complex
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005856	cytoskeleton
GO:0005886	plasma membrane
GO:0070062	extracellular vesicular exosome