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FLASH GENE

Symbol

CA8

contributors: mct/npt - updated : 25-05-2016

HGNC name	carbonic anhydrase VIII
HGNC id	1382

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CHQL3 cerebellar hypoplasia and quadrupedal locomotion 3
Location	8q12.2      Physical location : 61.101.422 - 61.193.954
Synonym name	carbonic anhydrase related protein
	CA-related protein
Synonym symbol(s)	CALS, CARP, CA-VIII, MGC120502, MGC99509, CAR8, CA-RP, CAMRQ3
EC.number	4.2.1.1

DNA

TYPE	functioning gene
STRUCTURE	94.05 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004056 9 - 2278 NP_004047 32.9 290 - 2007 17219437 NM_001321837 - - 3922 NP_001308766 - 290 - 2007 17219437 NM_001321838 - - 3972 NP_001308767 - 263 - 2007 17219437 NM_001321839 - - 5654 NP_001308768 - 258 - 2007 17219437

EXPRESSION

Type

widely

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 hindbrain cerebellum   highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Nervous Purkinje cell Homo sapiens Visual bipolar cell Mus musculus

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	in the neuroprogenitor cells in the subventricular zone as early as the 84th day of gestation and subsequently detected in the neural cells migrating to the cortex

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

MetalloP

HOMOLOGY

interspecies	ortholog to murine Carp
	homolog to murine Cals1

Homologene

FAMILY

eukariotic-type anhydrase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	in Purkinje cells with ITPR1

basic FUNCTION	carbonic anhydrase VIII, putatively involved in nerve function
	reversibly hydrating Co2 in cellular ion transport and pH homeostasis
	playing roles in various biological process of the CNS
	playing a role in the growth of colon cancer cells
	autoantigen involved in the pathogenesis of melanoma-associated paraneoplastic cerebellar degeneration
	is selectively expressed within neural circuits, and may be important for modulating retinal neurotransmission
	specific role of CA8 to protect cells from stresses 3)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Zn2+

protein	ITPR1-binding protein (binding site located within the modulatory domain of ITPR1 amino acids 1387-1647)
	CA8 is a novel important regulator of Purkinje cell dendritic development and that its expression is controlled by PRKCG activity
	CA8 is an allosteric inhibitor of ITPR1, which regulates intracellular calcium release fundamental to critical cellular functions including neuronal excitability, neurite outgrowth, neurotransmitter release
	CA8 is a novel important regulator of Purkinje cell dendritic development and that its expression is controlled by PRKCG activity
	might facilitate cancer cell invasion via the activation of PTK2-MMP9 signaling

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CHQL3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in colorectal carcinoma tumoral     --over   of CA8 in human osteosarcoma cells significantly increased cell proliferation

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed miscelleaneous pain   CA8 and ITPR1 represent new therapeutic targets for chronic pain

ANIMAL & CELL MODELS