CAPNS1

Protein identityUniProt · HPA

UniProt accession

P04632

Gene

CAPNS1

Ensembl

ENSG00000126247

Chromosome

19

Canonical length

268 aa

Protein class

Plasma proteins, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Cytosol

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene is a member of the calpain small subunit family. Calpains are calcium-dependent cysteine proteinases that are widely distributed in mammalian cells. Calpains operate as heterodimers, comprising a specific large catalytic subunit (calpain 1 subunit in Calpain I, and calpain 2 subunit in Calpain II), and a common small regulatory subunit encoded by this gene. This encoded protein is essential for the stability and function of both calpain heterodimers, whose proteolytic activities influence various cellular functions including apoptosis, proliferation, migration, adhesion, and autophagy. Calpains have been implicated in neurodegenerative processes, such as myotonic dystrophy. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

Canonical amino-acid sequenceUniProt

268 residues, UniProt reviewed canonical sequence.

>P04632|CAPNS1
     1  MFLVNSFLKG GGGGGGGGGG LGGGLGNVLG GLISGAGGGG GGGGGGGGGG GGGGGGTAMR
    61  ILGGVISAIS EAAAQYNPEP PPPRTHYSNI EANESEEVRQ FRRLFAQLAG DDMEVSATEL
   121  MNILNKVVTR HPDLKTDGFG IDTCRSMVAV MDSDTTGKLG FEEFKYLWNN IKRWQAIYKQ
   181  FDTDRSGTIC SSELPGAFEA AGFHLNEHLY NMIIRRYSDE SGNMDFDNFI SCLVRLDAMF
   241  RAFKSLDKDG TGQIQVNIQE WLQLTMYS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CAPNS1 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

0

Mean surface accessibility (rSASA)

0.39

Highest tissue expression

732 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CAPNS1.

Disease | AllUniProt

Conditions CAPNS1 is implicated in, by any mechanism.

• Pulmonary hypertension, primary, 6 (PPH6) MIM:620777

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 71 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Pulmonary hypertension, primary, 6

Disease | ImmuneIEDB

Conditions an epitope on CAPNS1 was assayed in.

• rheumatoid arthritis B cell

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)

1.11

gnomAD pLI

0

gnomAD missense Z

0.59

DepMap mean gene effect

-0.13

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• positive regulation of cell population proliferation
• proteolysis
• regulation of macroautophagy

Molecular functions

• calcium ion binding
• calcium-dependent cysteine-type endopeptidase activity

Cellular components

• calpain complex
• cytosol
• extracellular exosome
• membrane
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• EF-hand domain
• EF-hand domain pair
• EF-Hand 1, calcium-binding site

KeywordsUniProt

• Acetylation
• Calcium
• Cell membrane
• Cytoplasm
• Membrane
• Metal-binding
• Phosphoprotein
• Repeat

InteractionsUniProt · HPA

Protein binding partners of CAPNS1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CAPN1
• CAPN2