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FLASH GENE

Symbol

C8A

contributors: mct/npt - updated : 11-01-2012

HGNC name	complement component 8, alpha polypeptide
HGNC id	1352

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	C8A complement component 8A deficiency
Location	1p32.2      Physical location : 57.320.442 - 57.383.894
Synonym name	complement component 8, gamma-1 globulin
Synonym symbol(s)	C8

DNA

TYPE	functioning gene
STRUCTURE	63.45 kb     11 Exon(s)

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

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	pter - RH - D1S57 - (5' - C8A C8A - 3'/3' - C8B C8B - 5') - PGM1 - cen
Authors	Hoyheim (91),Rogde (92),Platte Gorze (96)

regionally located

<2.5kb, 5' from C8B

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000562 11 - 2392 65.2 584 - 2007 17872444

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 Digestive liver       highly Lymphoid/Immune spleen       highly

cell lineage
cell lines
fluid/secretion	plasma

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal TSP1 modules of C8A and C8B form three-stranded antiparallel domains that are similar to one another and to homologous modules found in other proteins
	a EGF-like domain
	a perforin domain and a LDL receptor domain, class A
	a MACPF domain that is responsible for membrane insertion and pore formation, containing the binding site for C9, having sequence similarity between the MAC family proteins and perforin
	C-terminal TSP1 domains, which are on the periphery of C8, have relatively poor density

mono polymer

heteromer , trimer

isoforms

Precursor

HOMOLOGY

Homologene

FAMILY	MAC family of proteins (membrane attack complex of complement)
	complement C6/C7/C8/C9 family

CATEGORY

immunity/defense

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane

basic FUNCTION	complexing with other late components of the cascade to form the membrane attack complex
	one of five complement proteins that assemble on bacterial membranes to form the lethal pore-like “membrane attack complex” (MAC) of complement

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

immunity/defense

PATHWAY

metabolism

signaling

a component	the principal binding site for C9 lies within the MACPF domain of C8alpha ; this site and the binding sites for C8beta and C8gamma are distinct
	C8 is composed of three genetically distinct subunits, C8A, C8B, and C8G

INTERACTION

DNA

RNA

small molecule

protein

binds and mediates the self-polymerization of C9 to form a pore-like structure on target cells, during MAC formation

cell & other

REGULATION

inhibited by

CD59

ASSOCIATED DISORDERS

corresponding disease(s)

C8A

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS