Collagen, type IV, alpha 1

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Collagen, type IV, alpha 1
Protein COL4A1 PDB 1li1.png
PDB rendering based on 1li1.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols COL4A1 ; HANAC; ICH; POREN1; arresten
External IDs OMIM120130 MGI88454 HomoloGene20437 GeneCards: COL4A1 Gene
RNA expression pattern
PBB GE COL4A1 211980 at tn.png
PBB GE COL4A1 211981 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1282 12826
Ensembl ENSG00000187498 ENSMUSG00000031502
UniProt P02462 P02463
RefSeq (mRNA) NM_001845 NM_009931
RefSeq (protein) NP_001836 NP_034061
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]

Function[edit]

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]

Clinical significance[edit]

Mutations in COL4A1 exons 24 and 25 are associated with HANAC (autosomal dominant hereditary angiopathy with nephropathy, aneurysms, and muscle cramps).[3] It has been also been confirmed that mutations in the COL4A1 gene occur in some patients with porencephaly and schizencephaly.[4]

References[edit]

  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". 
  3. ^ Plaisier E, Gribouval O, Alamowitch S, Mougenot B, Prost C, Verpont MC, Marro B, Desmettre T, Cohen SY, Roullet E, Dracon M, Fardeau M, Van Agtmael T, Kerjaschki D, Antignac C, Ronco P (2007). "COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps". N. Engl. J. Med. 357 (26): 2687–95. doi:10.1056/NEJMoa071906. PMID 18160688. 
  4. ^ Yoneda Y, Haginoya K, Kato M, Osaka H, Yokochi K, Arai H, Kakita A, Yamamoto T, Otsuki Y, Shimizu S, Wada T, Koyama N, Mino Y, Kondo N, Takahashi S, Hirabayashi S, Takanashi J, Okumura A, Kumagai T, Hirai S, Nabetani M, Saitoh S, Hattori A, Yamasaki M, Kumakura A, Sugo Y, Nishiyama K, Miyatake S, Tsurusaki Y, Doi H, Miyake N, Matsumoto N, Saitsu H (2013). "Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly". Ann. Neurol. 73 (1): 48–57. doi:10.1002/ana.23736. PMID 23225343. 


Further reading[edit]

  • Tryggvason K, Soininen R, Hostikka SL, Ganguly A, Huotari M, Prockop DJ (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. doi:10.3109/10520299909047967. PMID 10416788. 
  • Ghebrehiwet B, Peerschke EI, Hong Y, Munoz P, Gorevic PD (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, Kleinman HK, Reddi AH (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, Kurkinen M, Lebo R, Cheung MC, Prockop DJ, Boyd CD (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, Wang SY, Rosenbloom J, Kefalides NA, Myers JC (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. 
  • Soininen R, Huotari M, Ganguly A, Prockop DJ, Tryggvason K (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. 
  • Bowcock AM, Hebert JM, Christiano AM, Wijsman E, Cavalli-Sforza LL, Boyd CD (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, Kurkinen M, Barlow D, Hogan BL, Dalgleish R (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. 
  • Soininen R, Huotari M, Hostikka SL, Prockop DJ, Tryggvason K (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, Babel W, Glanville RW, Deutzmann R, Kühn K (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[edit]