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FLASH GENE

Symbol

COL4A5

contributors: mct - updated : 05-12-2011

HGNC name	collagen, type IV, alpha 5
HGNC id	2207

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AMME Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis ATS1 Alport syndrome ATSDL Alport syndrome with diffuse leiomyomatosis
Location	Xq22      Physical location : 107.683.153 - 107.940.775
Synonym name	collagen of basement membrane, alpha-5 chain
	IV chain precursor
	Alport syndrome
	Dragnet
Synonym symbol(s)	ATS, ASLN, CA54, RP6-24A23.5, MGC42377, MGC167109

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head, opposite orientation
text	organized in a head-to-head conformation with COL4A6 so that each gene pair shares a common promoter
STRUCTURE	257.62 kb     53 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	cen - PLP1 - DXS147 - DXS17 - DXS87 - SERPINA7 - DXS1285 - DXS1230 - DXS1120 - COL4A5 - COL4A6 /DXS1105 - DXS1210 - DXS456 - DXS287 -qter
Authors	Srivastava (95), Kendall (97)
Text	see PLP1

regionally located

close to COL4A6

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000495 51 splicing 6427 NP_000486 - 1685 - 1997 9244434 encoding the predominant isoform differing from variants 2 and 3 by not using alternative exons 41A and 41B having either two or one fewer Gly-X-Y repeats a 26 aa signal peptide of 2.7 kda a 1659 aa mature peptide of 158.3 kda NM_033380 53 splicing 6445 NP_203699 - 1691 - 1997 9244434 encoding a minor isoform utilizing two alternative exons, 41A and 41B, located within the intron between exons 41 and 42, to encode two Gly-X-Y repeats differing from variant 3 by using both alternative exons rather than only one a 26 aa signal peptide of 2.7 da a 1665 aa mature peptide of 158.9 kda variant 3 52 splicing 6436 - 1688 restricted to epithelial cells 1997 9244434 utilizing exon 41B encoding a minor isoform utilizing one alternative exon, 41B, located within the intron between exons 41 and 42, to encode a Gly-X-Y repeat differing from variant 2 by not using alternative exon 41A a 26 aa signal peptide of 2.7 kda a 1662 aa mature peptide of 158.7 kda

EXPRESSION

Type

widely

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 Endocrine neuroendocrine pituitary     highly Hearing/Equilibrium ear inner cochlea   highly Reproductive female system uterus     moderately Urinary bladder       moderately   kidney nephron renal capsule glomerulus

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol not specific fibroblast

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	the dermoepidermal junction during fetal skin development

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a Gly-X-Y repeat sequence interspersed by small interruptions
	a non collagenous C terminus with twelve cysteine residues

conjugated

GlycoP

mono polymer

homomer , heteromer , trimer

HOMOLOGY

interspecies	homolog to rattus Col4a5 (91.2 pc)
	homolog to murine Col4a5 (91.3 pc)

Homologene

FAMILY

collagen superfamily

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
text	located in the glomerular basement, extracellular matrix

basic FUNCTION	playing a role in establishing and maintaining the composition structure and function of mature glomerular basement membrane
	ROBO/SLIT and COL4A5 might cooperate in the same signaling pathway

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/hearing

a component

homotrimerizing and heterotrimerizing with COL4A3, COL4A4 kidney restricted

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ATS1 , AMME , ATSDL

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in thin basement membrane disease (FBH)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS