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FLASH GENE

Symbol

COL14A1

contributors: mct/npt - updated : 07-11-2016

HGNC name	collagen, type XIV, alpha 1
HGNC id	2191

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PPPK punctate palmoplantar keratoderma
Location	8q24.12      Physical location : 121.137.351 - 121.384.266
Synonym name	undulin (fibronectin-tenascin-related)
Synonym symbol(s)	UND, COL14

DNA

TYPE	functioning gene
STRUCTURE	249.11 kb     48 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	see MYC MYC

RNA

TRANSCRIPTS	type	messenger

text	one variant with unique C terminal domain

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_021110 48 - 8020 NP_066933 193.4 1796 - 2012 22972947

EXPRESSION

Type

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 Cardiovascular heart       highly Homo sapiens Fetal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	skin, tendon

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	fibril associated collagen with interrupted helices made of a putative N-terminal peptide signal
	a fibronectin type III domain
	a VWFA domain
	seven fibornectin type III domains
	a second VWFA domain
	a several collagenous and non collagenous domains in the C-terminal region

HOMOLOGY

intraspecies	homolog to collagen type XIV
	homolog to COL9A
	homolog to COL12A1

Homologene

FAMILY	collagen family
	fibril-associated collagens with interrupted helices (FACIT) family

CATEGORY

adaptor , structural protein

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,organelle,lumen
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	extracellular matrix

basic FUNCTION	involved in supramolecular organization of fibril bundles
	may have a functional role in maintaining cell differentiation (Ruehl 2005)
	may have a tissue-specific role in the structure-function relationship of connective tissues (Ansorge 2009)
	with COL12A1, might well be able to serve different functions during human embryonic development although their structures are highly similar (Thierry 2004)
	may be involved in basement membrane regulation providing specific molecular bridges between fibrils and other matrix components (Thierry 2004)
	fibril-associated collagen with an interrupted triple helix, interacting with the fibril surface and implicated as a regulator of fibrillogenes (Ansorge 2009)
	fibril-associated collagen with an interrupted triple helix (FACIT), regulating early stages of fibrillogenesis in connective tissues of high mechanical demand
	role in the formation of the cardiac interstitium during embryonic development, suggesting the importance of the collagen network for myocardial cell survival, and function of the working myocardium after birth

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

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)

PPPK

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   by hypermethylation in renal cell carcinoma (Morris 2010)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Type XIV Collagen-deficient Mice Have Altered Biomechanical Properties of Skin (Ansorge 2009)
	mice null for Collagen XIV are viable, however formation of the interstitial collagen network is defective in tendons and skin leading to reduced biomechanical function