HPCA

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.

Full Name

Hippocalcin

Function

Calcium-binding protein that may play a role in the regulation of voltage-dependent calcium channels (PubMed:28398555).

May also play a role in cyclic-nucleotide-mediated signaling through the regulation of adenylate and guanylate cyclases (By similarity).

Biological Process

Activation of phospholipase D activity Source: Ensembl
Brain development Source: Ensembl
Calcium-mediated signaling Source: Ensembl
Cellular response to calcium ion Source: UniProtKB
Cellular response to electrical stimulus Source: Ensembl
Cellular response to monosodium glutamate Source: Ensembl
Inner ear development Source: Ensembl
Negative regulation of guanylate cyclase activity Source: Ensembl
Positive regulation of adenylate cyclase activity Source: Ensembl
Positive regulation of protein targeting to membrane Source: Ensembl
Regulation of postsynaptic neurotransmitter receptor internalization Source: Ensembl
Regulation of voltage-gated calcium channel activity Source: UniProtKB
Response to Aroclor 1254 Source: Ensembl
Response to ketamine Source: Ensembl
Response to L-glutamate Source: Ensembl
Retina development in camera-type eye Source: Ensembl

Cellular Location

Cytosol; Membrane. Association with membranes is calcium-dependent (By similarity). Enriched in the perinuclear region, probably at the trans Golgi network in response to calcium (PubMed:28398555).

Involvement in disease

Dystonia 2, torsion, autosomal recessive (DYT2):
A form of torsion dystonia, a disease defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. 'Torsion' refers to the twisting nature of body movements, often affecting the trunk. DYT2 is a slowly progressive form that first affects distal limbs and later involves the neck, orofacial, and craniocervical regions.

PTM

Myristoylation facilitates association with membranes.