Collagen, type IV, alpha 5

COL4A5

Identifiers

COL4A5, ASLN, ATS, CA54, collagen type IV alpha 5, collagen type IV alpha 5 chain, ATS1

External IDs

OMIM: 303630 MGI: 88456 HomoloGene: 133559 GeneCards: COL4A5

Gene location (Human)

Chr.	X chromosome (human)^[1]

Band	Xq22.3	Start	108,439,838 bp^[1]
Band	Xq22.3	End	108,697,545 bp^[1]

Gene location (Mouse)

Chr.	X chromosome (mouse)^[2]

Band	X F2\|X 62.16 cM	Start	140,258,381 bp^[2]
Band	X F2\|X 62.16 cM	End	140,472,230 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

gastric mucosa

seminal vesicula

corpus callosum

urethra

right uterine tube

inferior ganglion of vagus nerve

left uterine tube

hair follicle

urinary bladder

myometrium

Top expressed in

ascending aorta

iris

left lung lobe

vas deferens

atrium

aortic valve

ciliary body

belly cord

conjunctival fornix

right lung lobe

More reference expression data

BioGPS

n/a

Gene ontology
Molecular function	extracellular matrix structural constituent extracellular matrix structural constituent conferring tensile strength
Cellular component	extracellular region basement membrane neuromuscular junction collagen collagen type IV trimer endoplasmic reticulum lumen extracellular space extracellular matrix collagen-containing extracellular matrix
Biological process	extracellular matrix organization neuromuscular junction development collagen-activated tyrosine kinase receptor signaling pathway
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


1287


12830

Ensembl


ENSG00000188153


ENSMUSG00000031274

UniProt


P29400


n/a

RefSeq (mRNA)


NM_000495 NM_033380 NM_033381


NM_001163155 NM_007736

RefSeq (protein)


NP_000486 NP_203699


n/a

Location (UCSC)

Chr X: 108.44 – 108.7 Mb

Chr X: 140.26 – 140.47 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Collagen alpha-5(IV) chain is a protein that in humans is encoded by the COL4A5 gene.

This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Three transcript variants have been identified for this gene.^[5]

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Transcription

Disease Databases

ARUP COL4A5 gene variant database

LOVD Alport gene variant databases (COL4A5, COL4A3, COL4A4)^{[permanent dead link]}

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000188153 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000031274 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: COL4A5 collagen, type IV, alpha 5 (Alport syndrome)".

Lemmink HH, Schröder CH, Monnens LA, Smeets HJ (1997). "The clinical spectrum of type IV collagen mutations". Hum. Mutat. 9 (6): 477–99. doi:10.1002/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-#. hdl:2066/25010. PMID 9195222. S2CID 196601220.
Ständer M, Naumann U, Wick W, Weller M (1999). "Transforming growth factor-beta and p-21: multiple molecular targets of decorin-mediated suppression of neoplastic growth". Cell Tissue Res. 296 (2): 221–7. doi:10.1007/s004410051283. PMID 10382266. S2CID 20282995.
Kurpakus Wheater M, Kernacki KA, Hazlett LD (1999). "Corneal cell proteins and ocular surface pathology". Biotechnic & Histochemistry. 74 (3): 146–59. doi:10.3109/10520299909047967. PMID 10416788.
Zhou J, Hertz JM, Leinonen A, Tryggvason K (1992). "Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient". J. Biol. Chem. 267 (18): 12475–81. doi:10.1016/S0021-9258(18)42301-0. PMID 1352287.
Renieri A, Seri M, Myers JC, et al. (1993). "De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome". Hum. Mol. Genet. 1 (2): 127–9. doi:10.1093/hmg/1.2.127. PMID 1363780.
Knebelmann B, Deschenes G, Gros F, et al. (1992). "Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments". Am. J. Hum. Genet. 51 (1): 135–42. PMC 1682875. PMID 1376965.
Ghebrehiwet B, Peerschke EI, Hong Y, et al. (1992). "Short amino acid sequences derived from C1q receptor (C1q-R) show homology with the alpha chains of fibronectin and vitronectin receptors and collagen type IV". J. Leukoc. Biol. 51 (6): 546–56. doi:10.1002/jlb.51.6.546. PMID 1377218. S2CID 1214598.
Zhou J, Barker DF, Hostikka SL, et al. (1991). "Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome". Genomics. 9 (1): 10–8. doi:10.1016/0888-7543(91)90215-Z. PMID 1672282.
Hostikka SL, Eddy RL, Byers MG, et al. (1990). "Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome". Proc. Natl. Acad. Sci. U.S.A. 87 (4): 1606–10. Bibcode:1990PNAS...87.1606H. doi:10.1073/pnas.87.4.1606. PMC 53524. PMID 1689491.
Gupta S, Batchu RB, Datta K (1992). "Purification, partial characterization of rat kidney hyaluronic acid binding protein and its localization on the cell surface". Eur. J. Cell Biol. 56 (1): 58–67. PMID 1724753.
Zhou J, Hostikka SL, Chow LT, Tryggvason K (1991). "Characterization of the 3' half of the human type IV collagen alpha 5 gene that is affected in the Alport syndrome". Genomics. 9 (1): 1–9. doi:10.1016/0888-7543(91)90214-Y. PMID 2004755.
Myers JC, Jones TA, Pohjolainen ER, et al. (1990). "Molecular cloning of alpha 5(IV) collagen and assignment of the gene to the region of the X chromosome containing the Alport syndrome locus". Am. J. Hum. Genet. 46 (6): 1024–33. PMC 1683837. PMID 2339699.
Barker DF, Hostikka SL, Zhou J, et al. (1990). "Identification of mutations in the COL4A5 collagen gene in Alport syndrome". Science. 248 (4960): 1224–7. Bibcode:1990Sci...248.1224B. doi:10.1126/science.2349482. PMID 2349482.
Pihlajaniemi T, Pohjolainen ER, Myers JC (1990). "Complete primary structure of the triple-helical region and the carboxyl-terminal domain of a new type IV collagen chain, alpha 5(IV)". J. Biol. Chem. 265 (23): 13758–66. doi:10.1016/S0021-9258(18)77414-0. PMID 2380186.
Hernandez MR, Igoe F, Neufeld AH (1986). "Extracellular matrix of the human optic nerve head". Am. J. Ophthalmol. 102 (2): 139–48. doi:10.1016/0002-9394(86)90134-0. PMID 2426947.
Glant TT, Hadházy C, Mikecz K, Sipos A (1985). "Appearance and persistence of fibronectin in cartilage. Specific interaction of fibronectin with collagen type II". Histochemistry. 82 (2): 149–58. doi:10.1007/bf00708199. PMID 3997552. S2CID 19401258.
Matsubara T, Trüeb B, Fehr K, et al. (1984). "The localization and secretion of type IV collagen in synovial capillaries by immunohistochemistry using a monoclonal antibody against human type IV collagen". Exp. Cell Biol. 52 (3): 159–69. doi:10.1159/000163256. PMID 6386565.
Uscanga L, Kennedy RH, Stocker S, et al. (1984). "Immunolocalization of collagen types, laminin and fibronectin in the normal human pancreas". Digestion. 30 (3): 158–64. doi:10.1159/000199100. PMID 6389236.
Sundarraj N, Willson J (1982). "Monoclonal antibody to human basement membrane collagen type IV". Immunology. 47 (1): 133–40. PMC 1555500. PMID 6811420.
Hahn E, Wick G, Pencev D, Timpl R (1980). "Distribution of basement membrane proteins in normal and fibrotic human liver: collagen type IV, laminin, and fibronectin". Gut. 21 (1): 63–71. doi:10.1136/gut.21.1.63. PMC 1419572. PMID 6988303.

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This page was last edited on 31 July 2023, at 09:17

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Disease Databases

See also

References

Further reading