Collagen, type IV, alpha 1

Collagen, type IV, alpha 1
PDB rendering based on 1li1.
Available structures PDB 1li1, 1m3d, 1t60, 1t61
Identifiers
Symbols	COL4A1; arresten
External IDs	OMIM: 120130 MGI: 88454 HomoloGene: 20437 GeneCards: COL4A1 Gene
Gene Ontology Molecular function • extracellular matrix structural constituent • protein binding • platelet-derived growth factor binding Cellular component • extracellular region • extracellular region • collagen • collagen type IV Biological process • angiogenesis • axon guidance • neuromuscular junction development • epithelial cell differentiation Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1282	12826
Ensembl	ENSG00000187498	ENSMUSG00000031502
UniProt	P02462	Q3UHJ4
RefSeq (mRNA)	NM_001845	NM_009931.2
RefSeq (protein)	NP_001836	NP_034061.2
Location (UCSC)	Chr 13: 110.8 – 110.96 Mb	Chr 8: 11.2 – 11.31 Mb
PubMed search	[1]	[2]

Collagen alpha-1(IV) chain is a protein that in humans is encoded by the COL4A1 gene.^[1][2]

This gene encodes the major type IV alpha collagen chain of basement membranes. 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.^[2]

Mutations in COL4A1 exons 24 and 25 are associated with HANAC (autosomal dominant hereditary angiopathy with nephropathy, aneurysms, and muscle cramps).^[3]

References

1. ^ Soininen R, Haka-Risku T, Prockop DJ, Tryggvason K (Jan 1988). "Complete primary structure of the alpha 1-chain of human basement membrane (type IV) collagen". FEBS Lett 225 (1-2): 188–94. doi:10.1016/0014-5793(87)81155-9. PMID 3691802. 
2. ^ ^{a b} "Entrez Gene: COL4A1 collagen, type IV, alpha 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1282. 
3. ^ Plaisier E, Gribouval O, Alamowitch S et al. (2007). "COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps". N. Engl. J. Med. 357 (26): 2687–2695. doi:10.1056/NEJMoa071906. PMID 18160688. http://content.nejm.org/cgi/content/short/357/26/2687. 

Further reading

• Tryggvason K, Soininen R, Hostikka SL, et al. (1990). "Structure of the human type IV collagen genes.". Ann. N. Y. Acad. Sci. 580: 97–111. doi:10.1111/j.1749-6632.1990.tb17922.x. PMID 2186699. 
• Hinek A (1995). "Nature and the multiple functions of the 67-kD elastin-/laminin binding protein.". Cell Adhes. Commun. 2 (3): 185–93. doi:10.3109/15419069409004436. PMID 7827955. 
• 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. 
• Kurpakus Wheater M, Kernacki KA, Hazlett LD (1999). "Corneal cell proteins and ocular surface pathology.". Biotechnic & histochemistry : official publication of the Biological Stain Commission 74 (3): 146–59. PMID 10416788. 
• 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. PMID 1377218. 
• 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. 
• Paralkar VM, Nandedkar AK, Pointer RH, et al. (1990). "Interaction of osteogenin, a heparin binding bone morphogenetic protein, with type IV collagen.". J. Biol. Chem. 265 (28): 17281–4. PMID 2211625. 
• 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. 
• Aumailley M, Wiedemann H, Mann K, Timpl R (1989). "Binding of nidogen and the laminin-nidogen complex to basement membrane collagen type IV.". Eur. J. Biochem. 184 (1): 241–8. doi:10.1111/j.1432-1033.1989.tb15013.x. PMID 2506015. 
• Pihlajaniemi T, Tryggvason K, Myers JC, et al. (1985). "cDNA clones coding for the pro-alpha1(IV) chain of human type IV procollagen reveal an unusual homology of amino acid sequences in two halves of the carboxyl-terminal domain.". J. Biol. Chem. 260 (12): 7681–7. PMID 2581969. 
• Brinker JM, Gudas LJ, Loidl HR, et al. (1985). "Restricted homology between human alpha 1 type IV and other procollagen chains.". Proc. Natl. Acad. Sci. U.S.A. 82 (11): 3649–53. doi:10.1073/pnas.82.11.3649. PMC 397843. PMID 2582422. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=397843. 
• Soininen R, Huotari M, Ganguly A, et al. (1989). "Structural organization of the gene for the alpha 1 chain of human type IV collagen.". J. Biol. Chem. 264 (23): 13565–71. PMID 2701944. 
• Siebold B, Deutzmann R, Kühn K (1988). "The arrangement of intra- and intermolecular disulfide bonds in the carboxyterminal, non-collagenous aggregation and cross-linking domain of basement-membrane type IV collagen.". Eur. J. Biochem. 176 (3): 617–24. doi:10.1111/j.1432-1033.1988.tb14321.x. PMID 2844531. 
• Pöschl E, Pollner R, Kühn K (1988). "The genes for the alpha 1(IV) and alpha 2(IV) chains of human basement membrane collagen type IV are arranged head-to-head and separated by a bidirectional promoter of unique structure.". EMBO J. 7 (9): 2687–95. PMC 457057. PMID 2846280. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=457057. 
• Bowcock AM, Hebert JM, Christiano AM, et al. (1988). "The pro alpha 1 (IV) collagen gene is linked to the D13S3 locus at the distal end of human chromosome 13q.". Cytogenet. Cell Genet. 45 (3-4): 234–6. doi:10.1159/000132460. PMID 2891465. 
• Solomon E, Hiorns LR, Spurr N, et al. (1985). "Chromosomal assignments of the genes coding for human types II, III, and IV collagen: a dispersed gene family.". Proc. Natl. Acad. Sci. U.S.A. 82 (10): 3330–4. doi:10.1073/pnas.82.10.3330. PMC 397769. PMID 2987919. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=397769. 
• Soininen R, Huotari M, Hostikka SL, et al. (1988). "The structural genes for alpha 1 and alpha 2 chains of human type IV collagen are divergently encoded on opposite DNA strands and have an overlapping promoter region.". J. Biol. Chem. 263 (33): 17217–20. PMID 3182844. 
• Brazel D, Oberbäumer I, Dieringer H, et al. (1987). "Completion of the amino acid sequence of the alpha 1 chain of human basement membrane collagen (type IV) reveals 21 non-triplet interruptions located within the collagenous domain.". Eur. J. Biochem. 168 (3): 529–36. doi:10.1111/j.1432-1033.1987.tb13450.x. PMID 3311751. 

External links

• GeneReviews/NCBI/NIH/UW entry on COL4A1-Related Disorders - Autosomal Dominant Type 1 Porencephaly; Brain Small Vessel Disease with Hemorrhage; Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps