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FLASH GENE

Symbol

COL12A1

contributors: mct/np - updated : 17-06-2012

HGNC name	collagen, type XII, alpha 1
HGNC id	2188

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DEL6Q1 chromosome 6q1 deletions
Location	6q13      Physical location : 75.794.042 - 75.915.623
Synonym name	collagen, type XII, alpha 1-like
	collagen type XII proteoglycan
Synonym symbol(s)	BA209D8.1, COL12A1L

DNA

TYPE	functioning gene
STRUCTURE	121.58 kb     66 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 2 (short) 51 - 8087 - 1899 - Thierry (2004) two A-like domains and 8 FBN type III repeats variant 1 (long) 66 - 11579 333 3063 - Thierry (2004) two non triple helical domains (long variant)

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 intestine small intestine       Hearing/Equilibrium ear

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       Connective cartilage       Connective dense tendon     Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text	aminion, chorion

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	fibril associated collagen with interrupted triple helices (FACIT)
	four von Willebrand A-like modules
	18 FBN type III repeats
	one NC4 collagen homology domain
	two triple helical domains

conjugated

GlycoP

mono polymer

homomer , trimer

HOMOLOGY

Homologene

FAMILY

collagen family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
text	extracellular matrix

basic FUNCTION	maintaining the integrity of ECM containing COLI fibers
	may be involved in basement membrane regulation providing specific molecular bridges between fibrils and other matrix components (Thierry 2004)
	with COL14A1, might well be able to serve different functions during human embryonic development although their structures are highly similar (Thierry 2004)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

text	skeletal development

PATHWAY

metabolism

signaling

a component

constituent of fibril associated collagen with interrupted triple helices (FACIT)

INTERACTION

DNA

RNA

small molecule

protein	COLI fibers
	COMP binds to COL12A1 and COL14A1 via their C-terminal collagenous domains, and three proteins codistribute in a characteristic narrow zone in the superficial papillary dermis of healthy human skin

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DEL6Q1

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS