References
Structural organization of the gene for the alpha 1 chain of human type IV collagen.Soininen R., Huotari M., Ganguly A., Prockop D.J., Tryggvason K.J. Biol. Chem. 264:13565-13571(1989)
The DNA sequence and analysis of human chromosome 13.Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.Nature 428:522-528(2004)
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.Brazel D., Oberbaeumer I., Dieringer H., Babel W., Glanville R.W., Deutzmann R., Kuehn K.Eur. J. Biochem. 168:529-536(1987)
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.Soininen R., Huotari M., Hostikka S.L., Prockop D.J., Tryggvason K.J. Biol. Chem. 263:17217-17220(1988)
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.Glanville R.W., Qian R.Q., Siebold B., Risteli J., Kuehn K.Eur. J. Biochem. 152:213-219(1985)
Complete primary structure of the alpha 1-chain of human basement membrane (type IV)
collagen.Soininen R., Haka-Risku T., Prockop D.J., Tryggvason K.FEBS Lett. 225:188-194(1987)
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.Babel W., Glanville R.W.Eur. J. Biochem. 143:545-556(1984)
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.Pihlajaniemi T., Tryggvason K., Myers J.C., Kurkinen M., Lebo R., Cheung M.-C., Prockop D.J., Boyd C.D.J. Biol. Chem. 260:7681-7687(1985)
Restricted homology between human alpha 1 type IV and other procollagen chains.Brinker J.M., Gudas L.J., Loidl H.R., Wang S.-Y., Rosenbloom J., Kefalides N.A., Myers J.C.Proc. Natl. Acad. Sci. U.S.A. 82:3649-3653(1985)
The arrangement of intra- and intermolecular disulfide bonds in the carboxyterminal, non-collagenous aggregation and cross-linking domain of basement-membrane type IV collagen.Siebold B., Deutzmann R., Kuehn K.Eur. J. Biochem. 176:617-624(1988)
Anti-angiogenic cues from vascular basement membrane collagen.Colorado P.C., Torre A., Kamphaus G., Maeshima Y., Hopfer H., Takahashi K., Volk R., Zamborsky E.D., Herman S., Sarkar P.K., Ericksen M.B., Dhanabal M., Simons M., Post M., Kufe D.W., Weichselbaum R.R., Sukhatme V.P., Kalluri R.Cancer Res. 60:2520-2526(2000)
Arresten, a collagen-derived inhibitor of angiogenesis.Fu J., Bai X., Wang W., Ruan C.Peng X., Yin B., Yuan J., Qiang B.Molecular cloning and sequencing of human arresten gene.Zheng Q.C., Song Z.F., Zheng Y.W., Li Y.Q., Shu X.Zhonghua Shi Yan Wai Ke Za Zhi 19:46-47(2002)
Cloning and expression of arresten in Escherichia coli and Pachia pastoris.He A.B.Construction of recombinant plasmid and prokaryotic expression in E. coli and biological activity analysis of human placenta arresten gene.Zheng J.P., Tang H.Y., Chen X.J., Yu B.F., Xie J., Wu T.C.Hepatobiliary Pancreat. Dis. Int. 5:74-79(2006)
Human alpha1 type IV collagen NC1 domain exhibits distinct antiangiogenic activity mediated by alpha1beta1 integrin.Sudhakar A., Nyberg P., Keshamouni V.G., Mannam A.P., Li J., Sugimoto H., Cosgrove D., Kalluri R.J. Clin. Invest. 115:2801-2810(2005)
Characterization of the anti-angiogenic properties of arresten, an alpha1beta1 integrin-dependent collagen-derived tumor suppressor.Nyberg P., Xie L., Sugimoto H., Colorado P., Sund M., Holthaus K., Sudhakar A., Salo T., Kalluri R.Exp. Cell Res. 314:3292-3305(2008)
An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.J. Proteomics 96:253-262(2014)
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.Than M.E., Henrich S., Huber R., Ries A., Mann K., Kuhn K., Timpl R., Bourenkov G.P., Bartunik H.D., Bode W.Proc. Natl. Acad. Sci. U.S.A. 99:6607-6612(2002)
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.Gould D.B., Phalan F.C., Breedveld G.J., van Mil S.E., Smith R.S., Schimenti J.C., Aguglia U., van der Knaap M.S., Heutink P., John S.W.M.Science 308:1167-1171(2005)
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.Breedveld G., de Coo I.F., Lequin M.H., Arts W.F.M., Heutink P., Gould D.B., John S.W.M., Oostra B., Mancini G.M.S.J. Med. Genet. 43:490-495(2006)
Role of COL4A1 in small-vessel disease and hemorrhagic stroke.Gould D.B., Phalan F.C., van Mil S.E., Sundberg J.P., Vahedi K., Massin P., Bousser M.G., Heutink P., Miner J.H., Tournier-Lasserve E., John S.W.M.N. Engl. J. Med. 354:1489-1496(2006)
COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.Sibon I., Coupry I., Menegon P., Bouchet J.P., Gorry P., Burgelin I., Calvas P., Orignac I., Dousset V., Lacombe D., Orgogozo J.M., Arveiler B., Goizet C.Ann. Neurol. 62:177-184(2007)
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.Plaisier E., Gribouval O., Alamowitch S., Mougenot B., Prost C., Verpont M.C., Marro B., Desmettre T., Cohen S.Y., Roullet E., Dracon M., Fardeau M., Van Agtmael T., Kerjaschki D., Antignac C., Ronco P.N. Engl. J. Med. 357:2687-2695(2007)
A sulfilimine bond identified in collagen IV.Vanacore R., Ham A.-J.L., Voehler M., Sanders C.R., Conrads T.P., Veenstra T.D., Sharpless K.B., Dawson P.E., Hudson B.G.Science 325:1230-1234(2009)
COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage.Vahedi K., Kubis N., Boukobza M., Arnoult M., Massin P., Tournier-Lasserve E., Bousser M.G.Stroke 38:1461-1464(2007)
COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.de Vries L.S., Koopman C., Groenendaal F., Van Schooneveld M., Verheijen F.W., Verbeek E., Witkamp T.D., van der Worp H.B., Mancini G.Ann. Neurol. 65:12-18(2009)
Novel COL4A1 mutations associated with HANAC syndrome
a role for the triple helical CB3 domain.Plaisier E., Chen Z., Gekeler F., Benhassine S., Dahan K., Marro B., Alamowitch S., Paques M., Ronco P.Am. J. Med. Genet. A 152:2550-2555(2010)
Ophthalmological features associated with COL4A1 mutations.Coupry I., Sibon I., Mortemousque B., Rouanet F., Mine M., Goizet C.Arch. Ophthalmol. 128:483-489(2010)
A dominantly inherited mutation in collagen IV A1 (COL4A1)
causing childhood onset stroke without porencephaly.Shah S., Kumar Y., McLean B., Churchill A., Stoodley N., Rankin J., Rizzu P., van der Knaap M., Jardine P.Eur. J. Paediatr. Neurol. 14:182-187(2010)
Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.Karolak J.A., Kulinska K., Nowak D.M., Pitarque J.A., Molinari A., Rydzanicz M., Bejjani B.A., Gajecka M.Mol. Vis. 17:827-843(2011)
+Additional computationally mapped references.<p>Provides general information on the entry.