Seroatlas · Human Serome Atlas

HEPN1

Putative cancer susceptibility gene HEPN1 protein

Also known as: HEPN1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q6WQI6
Gene: HEPN1
Ensembl: ENSG00000221932
Chromosome: 11
Canonical length: 88 aa
Protein class: Predicted intracellular proteins
Subcellular location: Golgi apparatus

OverviewNCBI Gene

This gene is expressed predominantly in the liver. Transient transfection studies show the expression of this gene significantly inhibits cell growth, suggesting a role for this gene in apoptosis. Expression of this gene is down-regulated or lost in hepatocellular carcinomas (HCC), suggesting that loss of this gene is involved in carcinogenesis of hepatocytes (PMID:12971969). This gene maps to the 3'-noncoding region of the HEPACAM gene (GeneID:220296) on the antisense strand. [provided by RefSeq, Aug 2020]

Canonical amino-acid sequenceUniProt

88 residues, UniProt reviewed canonical sequence.

>Q6WQI6|HEPN1
     1  MGNWGLGIAP WVDGESELEF RRLGMQGPLE ALRRREWNTQ RASFSFSFLI ALSPHTVDYC
    61  HSYELFNRRW HGHVLATQRP SLFILMLV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HEPN1 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): 0.62
Highest tissue expression: 163 nTPM

Expression across tissuesHPA

Tissue

amygdala: 163 nTPM
basal ganglia: 162 nTPM
midbrain: 146 nTPM
spinal cord: 141 nTPM
cerebral cortex: 139 nTPM
hippocampal formation: 128 nTPM

Single-cell type

bergmann glia: 251 nCPM
astrocytes: 171 nCPM
oligodendrocytes: 159 nCPM
oligodendrocyte progenitor cells: 77 nCPM
adipocytes: 48 nCPM
ependymal cells: 34 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

medulla oblongata: 128 nTPM
basal ganglia: 95 nTPM
thalamus: 87 nTPM
white matter: 82 nTPM
pons: 70 nTPM
spinal cord: 67 nTPM

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 missense Z: 0.15

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Cellular components

cytoplasm

KeywordsUniProt

Cytoplasm

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads HEPN1 as an antibody target. Whether an autoantibody or antibody against HEPN1 could matter depends on whether native HEPN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HEPN1 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 HEPN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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