HPCA

Protein identityUniProt · HPA

UniProt accession

P84074

Gene

HPCA

Ensembl

ENSG00000121905

Chromosome

1

Canonical length

193 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Transporters

OverviewNCBI Gene

The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. This protein is associated with the plasma membrane. It has similarities to proteins located in the photoreceptor cells that regulate photosignal transduction in a calcium-sensitive manner. This protein displays recoverin activity and a calcium-dependent inhibition of rhodopsin kinase. It is identical to the rat and mouse hippocalcin proteins and thought to play an important role in neurons of the central nervous system in a number of species. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

193 residues, UniProt reviewed canonical sequence.

>P84074|HPCA
     1  MGKQNSKLRP EMLQDLRENT EFSELELQEW YKGFLKDCPT GILNVDEFKK IYANFFPYGD
    61  ASKFAEHVFR TFDTNSDGTI DFREFIIALS VTSRGRLEQK LMWAFSMYDL DGNGYISREE
   121  MLEIVQAIYK MVSSVMKMPE DESTPEKRTE KIFRQMDTNN DGKLSLEEFI RGAKSDPSIV
   181  RLLQCDPSSA SQF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HPCA 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)

0.3

Highest tissue expression

946 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HPCA.

Disease | AllUniProt

Conditions HPCA is implicated in, by any mechanism.

• Dystonia 2, torsion, autosomal recessive (DYT2) MIM:224500

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 65 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Torsion dystonia 2

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)

0.59

gnomAD pLI

0.68

gnomAD missense Z

2.2

DepMap mean gene effect

-0.01

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

• calcium-mediated signaling
• cellular response to calcium ion
• cellular response to electrical stimulus
• cellular response to L-glutamate
• inner ear development
• positive regulation of protein targeting to membrane
• regulation of postsynaptic neurotransmitter receptor internalization
• regulation of signal transduction
• response to Aroclor 1254
• response to ketamine
• retina development in camera-type eye
• regulation of voltage-gated calcium channel activity

Molecular functions

• actin binding
• calcium ion binding
• identical protein binding
• kinase binding

Cellular components

• axon
• cytoplasm
• cytosol
• dendrite cytoplasm
• dendrite membrane
• dendritic spine head
• glutamatergic synapse
• membrane
• neuronal cell body membrane
• perikaryon

Protein domainsUniProt · Pfam · InterPro

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

KeywordsUniProt

• Calcium
• Cytoplasm
• Dystonia
• Lipoprotein
• Membrane
• Metal-binding
• Myristate
• Repeat

InteractionsUniProt · HPA

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

• DTX2
• HPCAL1
• MAP3K10
• MAP3K21
• MAP3K9
• NCALD