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FLASH GENE

Symbol

HLA-C

contributors: npt/ - updated : 26-09-2007

HGNC name	major histocompatibility complex, class I, C
HGNC id	4933

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	6p21.3      Physical location : 2.529.780 - 31.239.855
Synonym name	HLA-C, alpha chain, 44kDa, class Ia (see MHC1)
	HLA class I heavy chain
	HLA class I histocompatibility antigen C alpha chain
Synonym symbol(s)	D6S204, FLJ27082, HLA-Cw, HLA-JY3, HLC-C, HLA-Cw*050x, PSORS1

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
STRUCTURE	3.33 kb     8 Exon(s)

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed HLA-C 8 - 1543 38 366 - -

EXPRESSION

Type	ubiquitous

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 intestine large intestine colon   highly Lymphoid/Immune spleen       highly Reproductive female system uterus     highly Respiratory lung       highly

cells

System Cell Pubmed Species Stage Rna symbol   mast cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two extracellular globular domains, alpha 1, alpha 2
	a transmembranee segment
	a cytoplasmic tail, 36 alleles

conjugated

GlycoP

mono polymer

heteromer , dimer

HOMOLOGY

Homologene

FAMILY

HLA-class II family

CATEGORY

antigen

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION

involved in the presentation of foreign antigens to the immune system

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

immunity/defense

PATHWAY

metabolism

signaling

a component

heterodimer of alpha and beta chain, the alpha 1 domain forming the peptide groove with the beta 1 domain of HLA-DMB

INTERACTION

DNA

RNA

small molecule

protein

releasing the CLIP molecule from the peptide binding site

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to psoriasis (PSORS1) multinodular goiter to metastatic progression of melanoma to Graves disease

Variant & Polymorphism other	HLA-Cw4 allele can act as a protector against the development of multinodular goiter
	alleles (HLA-C(Lys80)) seem to be associated with metastatic progression of melanoma

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS