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FLASH GENE

Symbol

CA9

contributors: mct - updated : 27-08-2013

HGNC name	carbonic anhydrase IX
HGNC id	1383

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	7.24 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

inconsistent : contradictory evidence

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001216 11 - 1561 NP_001207 49 459 - 2008 18482982

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 Reproductive female system uterus cervix   highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly

cell lineage
cell lines	only in renal clear cell carcinoma
	MN/CA antigen expressed in HeLa cells and some human carcinomas
fluid/secretion

at STAGE

physiological period

embryo, fetal

Text	HIF-1alpha and CA9 expression co- localized in many, but not all, of the embryonic and early fetal tissues

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an helix-loop-helix (HLH) N terminal domain, and a unique N-linked glycosylation site (Asn309) that bears high mannose-type glycan structures
	secretory signal sequence
	the carbonic anhydrase domain
	a single transmembrane segment
	an intra-cytoplasmic tail

secondary structure

an intramolecular disulfide bridge (Cys119-Cys299)

conjugated

MetalloP

isoforms

Precursor

HOMOLOGY

Homologene

FAMILY

eukaryotic-type anhydrase family

CATEGORY

enzyme , secretory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,nucleus

basic FUNCTION	membrane-tethered, carbonic anhydrase (CA) enzyme, expressed mainly at the external surface of cells, that catalyzes reversible CO(2) hydration
	reversibly hydrating Co2 in cellular ion transport and pH homeostasis
	hypoxia-induced enzyme that has many biologically important functions, including its role in cell adhesion and invasion
	CA12 with CA9 are major tumor prosurvival pH-regulating enzymes, and their combined targeting shows that they hold potential as anticancer targets
	strongly involved in high incidences of metastasis and poor prognosis in various human tumors
	modulates tumor-associated cell migration and invasion
	is a pivotal mediator of the hypoxia-cAMP-PRKCA axis, which regulates pH in the hypoxic tumor microenvironment
	actively contributes to cell migration via its ability to facilitate ion transport and pH control at protruding fronts of moving cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Zn2+

protein

CA9 is a new down-stream target for SRC oncogene

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in some human carcinomas tumoral     --over   in MnSOD-positive oligodendroglial brain tumors tumoral     --over   in hereditary nonpolyposis colorectal cancer tumoral     --over   induces weakening of cell adhesions and augmented cell motility by aberrant Rho-GTPase signal transduction ( tumoral     --over   in glioblastoma

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	is an independent prognostic factor for poor outcome in patients with glioblastoma
	biomarker of aggressive disease in neuroblastomas
Therapy target
	System Type Disorder Pubmed tumor     inhibition of CA9 activity may offer a novel strategy for the clinical treatment of CA9-associated tumors cancer brain glioma/neuroblstoma inhibition of CA9is a potential metabolic target for the treatment of patients with glioblastoma

ANIMAL & CELL MODELS