Collagen, type IV, alpha 1

Collagen, type IV, alpha 1
PDB rendering based on 1li1.
Available structures PDB 1LI1
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 • cellular response to amino acid stimulus Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1282	12826
Ensembl	ENSG00000187498	ENSMUSG00000031502
UniProt	P02462	P02463
RefSeq (mRNA)	NM_001845.4	NM_009931.2
RefSeq (protein)	NP_001836.2	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.

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.

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

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