Details for: COL4A1
Associated with
Other Information
Genular Protein ID: 4255595328
Symbol: CO4A1_HUMAN
Name: Arresten
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 2701944
Title: Structural organization of the gene for the alpha 1 chain of human type IV collagen.
PubMed ID: 2701944
PubMed ID: 15057823
Title: The DNA sequence and analysis of human chromosome 13.
PubMed ID: 15057823
DOI: 10.1038/nature02379
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 3311751
Title: 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.
PubMed ID: 3311751
PubMed ID: 3182844
Title: 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.
PubMed ID: 3182844
PubMed ID: 4043082
Title: 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.
PubMed ID: 4043082
PubMed ID: 3691802
Title: Complete primary structure of the alpha 1-chain of human basement membrane (type IV) collagen.
PubMed ID: 3691802
PubMed ID: 6434307
Title: 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.
PubMed ID: 6434307
PubMed ID: 2581969
Title: 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.
PubMed ID: 2581969
PubMed ID: 2582422
Title: Restricted homology between human alpha 1 type IV and other procollagen chains.
PubMed ID: 2582422
PubMed ID: 2844531
Title: The arrangement of intra- and intermolecular disulfide bonds in the carboxyterminal, non-collagenous aggregation and cross-linking domain of basement-membrane type IV collagen.
PubMed ID: 2844531
PubMed ID: 10811134
Title: Anti-angiogenic cues from vascular basement membrane collagen.
PubMed ID: 10811134
PubMed ID: 16481288
Title: Construction of recombinant plasmid and prokaryotic expression in E. coli and biological activity analysis of human placenta arresten gene.
PubMed ID: 16481288
PubMed ID: 16151532
Title: Human alpha1 type IV collagen NC1 domain exhibits distinct antiangiogenic activity mediated by alpha1beta1 integrin.
PubMed ID: 16151532
DOI: 10.1172/jci24813
PubMed ID: 31895054
PubMed ID: 18775695
Title: Characterization of the anti-angiogenic properties of arresten, an alpha1beta1 integrin-dependent collagen-derived tumor suppressor.
PubMed ID: 18775695
PubMed ID: 22522439
Title: COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.
PubMed ID: 22522439
DOI: 10.1002/ana.22682
PubMed ID: 22574627
Title: Childhood presentation of COL4A1 mutations.
PubMed ID: 22574627
PubMed ID: 23394911
Title: Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.
PubMed ID: 23394911
PubMed ID: 23225343
Title: Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.
PubMed ID: 23225343
DOI: 10.1002/ana.23736
PubMed ID: 25228067
Title: Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity.
PubMed ID: 25228067
PubMed ID: 24628545
Title: Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.
PubMed ID: 24628545
DOI: 10.1111/cge.12379
PubMed ID: 27666438
Title: Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy.
PubMed ID: 27666438
DOI: 10.1002/ana.24782
PubMed ID: 28369186
Title: Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1.
PubMed ID: 28369186
DOI: 10.1093/brain/awx062
PubMed ID: 12011424
Title: 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.
PubMed ID: 12011424
PubMed ID: 15905400
Title: Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.
PubMed ID: 15905400
PubMed ID: 16107487
Title: Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.
PubMed ID: 16107487
PubMed ID: 16598045
Title: Role of COL4A1 in small-vessel disease and hemorrhagic stroke.
PubMed ID: 16598045
DOI: 10.1056/nejmoa053727
PubMed ID: 17696175
Title: COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.
PubMed ID: 17696175
DOI: 10.1002/ana.21191
PubMed ID: 18160688
Title: COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
PubMed ID: 18160688
DOI: 10.1056/nejmoa071906
PubMed ID: 17379824
Title: COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage.
PubMed ID: 17379824
PubMed ID: 19194877
Title: COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.
PubMed ID: 19194877
DOI: 10.1002/ana.21525
PubMed ID: 20818663
Title: Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain.
PubMed ID: 20818663
DOI: 10.1002/ajmg.a.33659
PubMed ID: 20385946
Title: Ophthalmological features associated with COL4A1 mutations.
PubMed ID: 20385946
PubMed ID: 19477666
Title: A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly.
PubMed ID: 19477666
PubMed ID: 21527998
Title: Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.
PubMed ID: 21527998
Sequence Information:
- Length: 1669
- Mass: 160611
- Checksum: 3BEBA6DFFB9B8A84
- Sequence:
MGPRLSVWLL LLPAALLLHE EHSRAAAKGG CAGSGCGKCD CHGVKGQKGE RGLPGLQGVI GFPGMQGPEG PQGPPGQKGD TGEPGLPGTK GTRGPPGASG YPGNPGLPGI PGQDGPPGPP GIPGCNGTKG ERGPLGPPGL PGFAGNPGPP GLPGMKGDPG EILGHVPGML LKGERGFPGI PGTPGPPGLP GLQGPVGPPG FTGPPGPPGP PGPPGEKGQM GLSFQGPKGD KGDQGVSGPP GVPGQAQVQE KGDFATKGEK GQKGEPGFQG MPGVGEKGEP GKPGPRGKPG KDGDKGEKGS PGFPGEPGYP GLIGRQGPQG EKGEAGPPGP PGIVIGTGPL GEKGERGYPG TPGPRGEPGP KGFPGLPGQP GPPGLPVPGQ AGAPGFPGER GEKGDRGFPG TSLPGPSGRD GLPGPPGSPG PPGQPGYTNG IVECQPGPPG DQGPPGIPGQ PGFIGEIGEK GQKGESCLIC DIDGYRGPPG PQGPPGEIGF PGQPGAKGDR GLPGRDGVAG VPGPQGTPGL IGQPGAKGEP GEFYFDLRLK GDKGDPGFPG QPGMPGRAGS PGRDGHPGLP GPKGSPGSVG LKGERGPPGG VGFPGSRGDT GPPGPPGYGP AGPIGDKGQA GFPGGPGSPG LPGPKGEPGK IVPLPGPPGA EGLPGSPGFP GPQGDRGFPG TPGRPGLPGE KGAVGQPGIG FPGPPGPKGV DGLPGDMGPP GTPGRPGFNG LPGNPGVQGQ KGEPGVGLPG LKGLPGLPGI PGTPGEKGSI GVPGVPGEHG AIGPPGLQGI RGEPGPPGLP GSVGSPGVPG IGPPGARGPP GGQGPPGLSG PPGIKGEKGF PGFPGLDMPG PKGDKGAQGL PGITGQSGLP GLPGQQGAPG IPGFPGSKGE MGVMGTPGQP GSPGPVGAPG LPGEKGDHGF PGSSGPRGDP GLKGDKGDVG LPGKPGSMDK VDMGSMKGQK GDQGEKGQIG PIGEKGSRGD PGTPGVPGKD GQAGQPGQPG PKGDPGISGT PGAPGLPGPK GSVGGMGLPG TPGEKGVPGI PGPQGSPGLP GDKGAKGEKG QAGPPGIGIP GLRGEKGDQG IAGFPGSPGE KGEKGSIGIP GMPGSPGLKG SPGSVGYPGS PGLPGEKGDK GLPGLDGIPG VKGEAGLPGT PGPTGPAGQK GEPGSDGIPG SAGEKGEPGL PGRGFPGFPG AKGDKGSKGE VGFPGLAGSP GIPGSKGEQG FMGPPGPQGQ PGLPGSPGHA TEGPKGDRGP QGQPGLPGLP GPMGPPGLPG IDGVKGDKGN PGWPGAPGVP GPKGDPGFQG MPGIGGSPGI TGSKGDMGPP GVPGFQGPKG LPGLQGIKGD QGDQGVPGAK GLPGPPGPPG PYDIIKGEPG LPGPEGPPGL KGLQGLPGPK GQQGVTGLVG IPGPPGIPGF DGAPGQKGEM GPAGPTGPRG FPGPPGPDGL PGSMGPPGTP SVDHGFLVTR HSQTIDDPQC PSGTKILYHG YSLLYVQGNE RAHGQDLGTA GSCLRKFSTM PFLFCNINNV CNFASRNDYS YWLSTPEPMP MSMAPITGEN IRPFISRCAV CEAPAMVMAV HSQTIQIPPC PSGWSSLWIG YSFVMHTSAG AEGSGQALAS PGSCLEEFRS APFIECHGRG TCNYYANAYS FWLATIERSE MFKKPTPSTL KAGELRTHVS RCQVCMRRT
Genular Protein ID: 1642549698
Symbol: A5PKV2_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
Sequence Information:
- Length: 519
- Mass: 50184
- Checksum: FD8319AAFDBF46B2
- Sequence:
MGPRLSLWLL LLPAALLLHE EHSRAAAKGG CAGSGCGKCD CHGVKGQKGE RGLPGLQGVI GFPGMQGPEG PQGPPGQKGD TGEPGLPGTK GTRGPPGASG YPGNPGLPGI PGQDGPPGPP GIPGCNGTKG ERGPLGPPGL PGFAGNPGPP GLPGMKGDPG EILGHVPGML LKGERGFPGI PGTPGPPGLP GLQGPVGPPG FTGPPGPPGP PGPPGEKGQM GLSFQGPKGD KGDQGVSGPP GVPGQAQVQE KGDFATKGEK GQKAEPGFQG MPGVGEKGEP GKPGPRGKPG KDGDKGEKGS PGFPGEPGYP GLIGRQGPQG EKGEAGPPGP PGIVIGTGPL GEKGERGYPG TPGPRGEPGP KGFPGLPGQP GPPGLPVPGQ AGAPGFPGER GEKGDRGFPG TSLPGPSGRD GLPGPPGSPG PPGQPGYTNG IVECQPGPPG DQGPPGIPGQ PGFIGEIGEK GQKGESCLIC DIDGYRGPPG PQGPPGEIGF PGQPGAKGDR GLPGRDGVAG VPLLFQIHK
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.