COL4A1

From Wikipedia, the free encyclopedia

Collagen, type IV, alpha 1

PDB rendering based on 1li1.

Available structures: 1li1, 1m3d, 1t60, 1t61

Identifiers

Symbol(s)

COL4A1; arresten

External IDs

OMIM: 120130 MGI: 88454 HomoloGene: 20437

Gene ontology
Molecular Function:	• extracellular matrix structural constituent
Cellular Component:	• extracellular region • collagen • collagen type IV • cytoplasm
Biological Process:	• phosphate transport

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_001845 (mRNA)
NP_001836 (protein)

NM_009931 (mRNA)
NP_034061 (protein)

Location

Chr 13: 109.6 - 109.76 Mb

Chr 8: 11.2 - 11.31 Mb

Pubmed search

[1]

[2]

Collagen, type IV, alpha 1, also known as COL4A1, is a human gene.^[1]

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]

[edit] References

^ Entrez Gene: COL4A1 collagen, type IV, alpha 1.
^ Entrez Gene: COL4A1 collagen, type IV, alpha 1.
^ Plaisier E, Gribouval O, Alamowitch S et al (2007). "COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps". N. Engl. J. Med. 357: 2687–2695. doi:10.1056/NEJMoa071906.

[edit] 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. 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. 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. 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. 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. 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. PMID 2582422.
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. 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. PMID 2846280.
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. 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. PMID 2987919.
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. PMID 3311751.
Soininen R, Haka-Risku T, Prockop DJ, Tryggvason K (1988). "Complete primary structure of the alpha 1-chain of human basement membrane (type IV) collagen.". FEBS Lett. 225 (1-2): 188–94. PMID 3691802.