ASIC5
Bile acid-sensitive ion channel
Also known as: ACCN5, ASIC5_HUMAN, HINAC, INAC
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NY37
- Gene
- ASIC5
- Ensembl
- ENSG00000256394
- Chromosome
- 4
- Canonical length
- 505 aa
- Protein class
- Predicted membrane proteins, Transporters
OverviewNCBI Gene
This gene belongs to the amiloride-sensitive Na+ channel and degenerin (NaC/DEG) family, members of which have been identified in many animal species ranging from the nematode to human. The amiloride-sensitive Na(+) channel encoded by this gene is primarily expressed in the small intestine, however, its exact function is not known. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
505 residues, UniProt reviewed canonical sequence.
>Q9NY37|ASIC5
1 MEQTEKSKVY AENGLLEKIK LCLSKKPLPS PTERKKFDHD FAISTSFHGI HNIVQNRSKI
61 RRVLWLVVVL GSVSLVTWQI YIRLLNYFTW PTTTSIEVQY VEKMEFPAVT FCNLNRFQTD
121 AVAKFGVIFF LWHIVSKVLH LQEITANSTG SREATDFAAS HQNFSIVEFI RNKGFYLNNS
181 TLLDCEFFGK PCSPKDFAHV FTEYGNCFTF NHGETLQAKR KVSVSGRGLS LLFNVNQEAF
241 TDNPALGFVD AGIIFVIHSP KKVPQFDGLG LLSPVGMHAR VTIRQVKTVH QEYPWGECNP
301 NIKLQNFSSY STSGCLKECK AQHIKKQCGC VPFLLPGYGI ECDLQKYFSC VSPVLDHIEF
361 KDLCTVGTHN SSCPVSCEEI EYPATISYSS FPSQKALKYL SKKLNQSRKY IRENLVKIEI
421 NYSDLNYKIT QQQKAVSVSE LLADLGGQLG LFCGASLITI IEIIEYLFTN FYWICIFFLL
481 KISEMTQWTP PPQNHLGNKN RIEECLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ASIC5 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
- Cell surface
- Secreted
- No
- Transmembrane segments
- 2
- Mean surface accessibility (rSASA)
- 0.32
- Highest tissue expression
- 2.2 nTPM
Expression across tissuesHPA
Tissue
- duodenum: 2.2 nTPM
- small intestine: 1.2 nTPM
- adipose tissue: 0 nTPM
- adrenal gland: 0 nTPM
- amygdala: 0 nTPM
- appendix: 0 nTPM
Single-cell type
- neuroendocrine cells: 5.6 nCPM
- early spermatids: 1.2 nCPM
- loop of henle epithelial cells: 1 nCPM
- proximal tubule cells: 0.5 nCPM
- late spermatids: 0.4 nCPM
- brain excitatory neurons: 0.2 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
- cerebral cortex: 1.1 nTPM
- white matter: 0.4 nTPM
- hippocampal formation: 0.2 nTPM
- midbrain: 0.2 nTPM
- amygdala: 0.1 nTPM
- basal ganglia: 0.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ASIC5.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 86 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Pregnancy loss, recurrent, susceptibility to, 3
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)
- 1.37
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.33
- DepMap mean gene effect
- 0.14
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- ligand-gated sodium channel activity
- proton channel activity
- bile acid-gated sodium channel activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ASIC5 as an antibody target. Whether an autoantibody or antibody against ASIC5 could matter depends on whether native ASIC5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ASIC5 is annotated at the cell surface, where native ASIC5 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label ASIC5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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