Collagen Type IV Alpha 1 (COL4a1)

COL4-A1; Arresten; Collagen Alpha-1(IV)chain

SPN	T812
HGNC	2202
MGI	88454
PubMed	22522439
RGD	1307148
UniProt	P02462
Wiki	COL4A1

Collagen, type IV, alpha 1 is a 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.Types I, II, and III collagen, the so-called interstitial collagens, are in many ways distinct from basement membrane collagen. Type IV collagen does not form ordered fibrillar structures; rather, a meshwork is formed by 4 molecules held together at the ends. Both disulfide and typical lysyl-derived collagen crosslinks are involved. The collagen IV molecule is a heterotrimer of 2 alpha-1 chains and 1 alpha-2 chain. The alpha-2 chain is encoded at a distinct locus (COL4A2).

Reference

"Structural organization of the gene for the alpha 1 chain of human type IV collagen."
J. Biol. Chem. 264:13565-13571(1989) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and analysis of human chromosome 13."
Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"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. 168:529-536(1987) [PubMed] [Europe PMC] [Abstract]

"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. 263:17217-17220(1988) [PubMed] [Europe PMC] [Abstract]

"Amino acid sequence of the N-terminal aggregation and cross-linking region (7S domain) of the alpha 1 (IV) chain of human basement membrane collagen."
Eur. J. Biochem. 152:213-219(1985) [PubMed] [Europe PMC] [Abstract]

"Complete primary structure of the alpha 1-chain of human basement membrane (type IV) collagen."
FEBS Lett. 225:188-194(1987) [PubMed] [Europe PMC] [Abstract]

"Structure of human-basement-membrane (type IV) collagen. Complete amino-acid sequence of a 914-residue-long pepsin fragment from the alpha 1(IV) chain."
Eur. J. Biochem. 143:545-556(1984) [PubMed] [Europe PMC] [Abstract]

"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. 260:7681-7687(1985) [PubMed] [Europe PMC] [Abstract]

"Restricted homology between human alpha 1 type IV and other procollagen chains."
Proc. Natl. Acad. Sci. U.S.A. 82:3649-3653(1985) [PubMed] [Europe PMC] [Abstract]

"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. 176:617-624(1988) [PubMed] [Europe PMC] [Abstract]

"Anti-angiogenic cues from vascular basement membrane collagen."
Cancer Res. 60:2520-2526(2000) [PubMed] [Europe PMC] [Abstract]

"Molecular cloning and sequencing of human arresten gene."
Zhonghua Shi Yan Wai Ke Za Zhi 19:46-47(2002)

"Construction of recombinant plasmid and prokaryotic expression in E. coli and biological activity analysis of human placenta arresten gene."
Hepatobiliary Pancreat. Dis. Int. 5:74-79(2006) [PubMed] [Europe PMC] [Abstract]

"Human alpha1 type IV collagen NC1 domain exhibits distinct antiangiogenic activity mediated by alpha1beta1 integrin."
J. Clin. Invest. 115:2801-2810(2005) [PubMed] [Europe PMC] [Abstract]

"Characterization of the anti-angiogenic properties of arresten, an alpha1beta1 integrin-dependent collagen-derived tumor suppressor."
Exp. Cell Res. 314:3292-3305(2008) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"The 1.9-A crystal structure of the noncollagenous (NC1) domain of human placenta collagen IV shows stabilization via a novel type of covalent Met-Lys cross-link."
Proc. Natl. Acad. Sci. U.S.A. 99:6607-6612(2002) [PubMed] [Europe PMC] [Abstract]

"Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly."
Science 308:1167-1171(2005) [PubMed] [Europe PMC] [Abstract]

"Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly."
J. Med. Genet. 43:490-495(2006) [PubMed] [Europe PMC] [Abstract]

"Role of COL4A1 in small-vessel disease and hemorrhagic stroke."
N. Engl. J. Med. 354:1489-1496(2006) [PubMed] [Europe PMC] [Abstract]

"COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke."
Ann. Neurol. 62:177-184(2007) [PubMed] [Europe PMC] [Abstract]

"COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps."
N. Engl. J. Med. 357:2687-2695(2007) [PubMed] [Europe PMC] [Abstract]

"A sulfilimine bond identified in collagen IV."
Science 325:1230-1234(2009) [PubMed] [Europe PMC] [Abstract]

"COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage."
Stroke 38:1461-1464(2007) [PubMed] [Europe PMC] [Abstract]

"COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage."
Ann. Neurol. 65:12-18(2009) [PubMed] [Europe PMC] [Abstract]

"Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain."
Am. J. Med. Genet. A 152:2550-2555(2010) [PubMed] [Europe PMC] [Abstract]

"Ophthalmological features associated with COL4A1 mutations."
Arch. Ophthalmol. 128:483-489(2010) [PubMed] [Europe PMC] [Abstract]

"A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly."
Eur. J. Paediatr. Neurol. 14:182-187(2010) [PubMed] [Europe PMC] [Abstract]

"Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus."
Mol. Vis. 17:827-843(2011) [PubMed] [Europe PMC] [Abstract]