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FLASH GENE

Symbol

COL4A1

contributors: shn/mct - updated : 06-11-2017

HGNC name	collagen, type IV, alpha 1
HGNC id	2202

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BSVD brain small vessel disease with or without ocular anomalies COL4A1D COL4A1 deficiency COSS COL4A1 stroke syndrome HANAC hereditary angiopathy with nephropathy, aneurysms and muscle cramps PRCF porencephaly familial WLKWS9 Walker-Warburg syndrome 9
Location	13q34      Physical location : 110.801.310 - 110.959.496
Synonym name	arresten
	COL4A1 NC1 domain
	collagen of basement membrane, alpha-1 chain
Synonym symbol(s)	RP11-472K17.2, HANAC, ICH, POREN1, arresten, BSVD, RATOR

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head
text	head to head with COL4A2
STRUCTURE	158.20 kb     52 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	sharing promoter with COL4A2

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	cen - D13S895 - D13S1315 - COL4A1 - D13S261 - D13S285 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001845 52 - 6549 NP_001836 - 1669 - 1990 2186699 NM_001303110 25 - 2601 NP_001290039 - 519 - 1990 2186699

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 Cardiovascular heart         Hearing/Equilibrium ear inner cochlea     Nervous nerve

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	in the dermoepidermal junction during fetal skin development

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	meshwork forming collagen with a GLy-X-Y repeat sequence interspersed by small interruptions
	C-terminal tandem repeat domain, and a globular noncollagenous (NC1) domain responsible for initiating heterotrimer formation within the ER

mono polymer

heteromer , trimer

isoforms

Precursor

HOMOLOGY

interspecies	ortholog to Col4a1, Mus musculus
	ortholog to Col4a1, Rattus norvegicus
	ortholog to COL4A1, Pan troglodytes

Homologene

FAMILY

type IV collagen family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,organelle,lumen
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
text	extracellular matrix
	major component of almost all basement membranes
	heterotrimers composed of one COL4A2 and two COL4A1 peptides are assembled and modified within the endoplasmic reticulum (ER) before trafficking to the Golgi where they are packaged into vesicles for secretion into the vascular basement membranes

basic FUNCTION	formation of basement membranes
	acts as an antiangiogenic factor on vascular endothelial growth factor-mediated proangiogenic activity
	important role of COL4A1, COL4A2 in the physiological and optical properties of the lens
	role for COL4A1 in glomerular filtration
	in addition to the role in the formation of epithelium and vasculature, COL4A1, COL4A2 appears to be key for alveolar myofibroblast development by inducing their proliferation, differentiation and migration throughout the developing septum
	role for COL4A1 in peripheral myelination

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

COL4A1 and COL4A2 form heterotrimers and are abundant components of basement membranes, including those of the cerebral vasculature

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PRCF , HANAC , COSS , WLKWS9 , BSVD , COL4A1D

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in cerebral hemorrhage and porencephaly constitutional germinal mutation       in anophthalmia/microphthalmia (A/M) (PMID; constitutional germinal mutation       in non-syndromic, autosomal dominant congenital cataract

Susceptibility

to perinatal cerebral haemorrhage and porencephaly

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurosensorial     endothelial-specific inhibitory actions of recombinant alpha1(IV)NC1 (COL4A1) may be of benefit in the treatment of a variety of eye diseases with a neovascular component cardiovascular     a mechanism-based therapy promoting protein folding might prevent intracerebral hemorrhage (ICH) in patients with COL4A1 and COL4A2 mutations

ANIMAL & CELL MODELS

	Col4a1 mutant mouse develops porencephaly secondary to focal disruptions of vascular basement membranes and dies with cerebral hemorrhage within a day of birth (Gould et al, 2005)
	Col4a1 mutant mice develop progressive skeletal myopathy
	HANAC mutant mice presented with a muscular functional impairment and increased serum creatine kinase levels reflecting altered muscle fiber sarcolemma
	heterozygous Col4a1 mutant mice have ocular dysgenesis, neuronal localization defects, and myopathy characteristic of MEB/WWS