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FLASH GENE

Symbol

HPCA

contributors: mct - updated : 15-04-2015

HGNC name	hippocalcin
HGNC id	5144

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DYT2 torsion dystonia 2
Location	1p35.1      Physical location : 33.352.097 - 33.360.246
Synonym name	neuron specific calcium-binding protein hippocalcin
	calcium-binding protein BDR-2
Synonym symbol(s)	BDR2

DNA

TYPE	functioning gene
STRUCTURE	8.15 kb     4 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002143 4 - 1440 NP_002134 - 193 - 1998 9931466

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain limbic system hippocampus   highly Homo sapiens   brain diencephalon hypothalamus   highly Homo sapiens   brain basal nuclei striatum   predominantly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens Nervous pyramidal cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal region of HPCA was required for binding to CKB
	four EF-hand motifs, tandemly repeated

HOMOLOGY

interspecies

ortholog to murine Hpca

Homologene

FAMILY	neuronal Ca(2+) sensor protein family
	recoverin family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,cytoskeleton,microtubule
text	co-localizes with activated JNK along microtubules
	associates with CKB and together they translocate to membrane compartments in a Ca(2+)-dependent manner

basic FUNCTION	neuronal calcium binding protein, contributing to neuronal viability during aging
	displaying recoverin activity and a calcium-dependent inhibition of rhodopsin kinase
	plays an important role in the activation of ZHX2 conducted by Ras
	may signal within diffusionally restricted domains of neuronal processes in which it might play a physiological role in Ca(2+)-dependent local activation of specific molecular targets
	both hippocalcin and MAP3K10 may be associated with the pathogenesis of Parkinson disease
	is the most highly expressed neuronal calcium sensor in the medium spiny striatal output neurons that degenerate selectively in Huntington disease (HD)
	Ca(2+)-binding protein that is a key mediator of many cellular functions including synaptic plasticity and learning
	also possesses an ability to produce local signalling at the single synaptic level providing a molecular mechanism for homosynaptic plasticity
	Ca(2+)-binding protein contributing to neuronal plasticity
	might play a role in regulating voltage-dependent calcium channels
	role in synaptic plasticity within the hippocampus, where it is hypothesized to play a role in memory formation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	two calcium ions

protein	binds to the C-terminal region of MAP3K10
	NRF1 could be a regulatory factor for VSNL1 gene expression and for other visinin-like subfamily members including HPCAL4, HPCAL1, HPCA, and NCALD
	specifically bound to CKB in a Ca(2+)-dependent manner, but not to the muscle-type CKM subunit

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DYT2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   hippocalcin RNA is diminished by 63p100 in (HD) Huntington disease brain, but diminished hippocalcin expression does not contribute to HD-related neurodegeneration constitutional     --over   dramatically elongated neurites and increased the expression of basic helix-loop-helix transcription factor, that is, NEUROD1 without FGF2 stimulation

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Hpca-deficient (Hpca(-/-)) mice display a defect in cAMP response element-binding protein (CREB) activation associated with impaired spatial and associative memory
	Hpca-knockout mice show deficits in tests of spatial and associative memory in the absence of any obvious structural abnormalities within the brain