Seroatlas · Human Serome Atlas

HINT1

Adenosine 5'-monophosphoramidase HINT1

Also known as: HINT, HINT1_HUMAN, PKCI-1, PRKCNH1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P49773
Gene: HINT1
Ensembl: ENSG00000169567
Chromosome: 5
Canonical length: 126 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Plasma membrane,Cytosol
Quaternary structure: Homodimer

OverviewNCBI 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 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. [provided by RefSeq, Dec 2015]

Canonical amino-acid sequenceUniProt

126 residues, UniProt reviewed canonical sequence.

>P49773|HINT1
     1  MADEIAKAQV ARPGGDTIFG KIIRKEIPAK IIFEDDRCLA FHDISPQAPT HFLVIPKKHI
    61  SQISVAEDDD ESLLGHLMIV GKKCAADLGL NKGYRMVVNE GSDGGQSVYH VHLHVLGGRQ
   121  MHWPPG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HINT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.32
Highest tissue expression: 548 nTPM

Expression across tissuesHPA

Tissue

liver: 548 nTPM
skeletal muscle: 438 nTPM
kidney: 375 nTPM
cerebral cortex: 343 nTPM
amygdala: 319 nTPM
basal ganglia: 311 nTPM

Single-cell type

hepatocytes: 2,647 nCPM
esophageal basal cells: 2,165 nCPM
extravillous trophoblasts: 2,147 nCPM
esophageal suprabasal cells: 1,972 nCPM
esophageal apical cells: 1,778 nCPM
epididymal efferent duct absorptive cells: 1,567 nCPM

Immune cell

total PBMC: 609 nTPM
plasmacytoid DC: 523 nTPM
memory CD4 T-cell: 463 nTPM
naive CD4 T-cell: 417 nTPM
myeloid DC: 398 nTPM
memory B-cell: 386 nTPM

Brain region

pons: 116 nTPM
hypothalamus: 115 nTPM
cerebral cortex: 112 nTPM
white matter: 107 nTPM
basal ganglia: 106 nTPM
choroid plexus: 106 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HINT1.

Disease | AllUniProt

Conditions HINT1 is implicated in, by any mechanism.

Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) MIM:137200

Disease | GeneticClinVar

27 pathogenic / likely-pathogenic of 143 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal recessive axonal neuropathy with neuromyotonia
Inborn genetic diseases
Peripheral neuropathy
Charcot-Marie-Tooth disease
Sensory axonal neuropathy

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.81
gnomAD pLI: 0
gnomAD missense Z: 0.44
DepMap mean gene effect: 0.03
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

intrinsic apoptotic signaling pathway by p53 class mediator
positive regulation of calcium-mediated signaling
protein desumoylation
proteolysis
regulation of DNA-templated transcription
signal transduction
purine ribonucleotide catabolic process

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of HINT1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads HINT1 as an antibody target. Whether an autoantibody or antibody against HINT1 could matter depends on whether native HINT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HINT1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label HINT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...