Details for: COL5A1
Associated with
Other Information
Genular Protein ID: 3971259662
Symbol: CO5A1_HUMAN
Name: Collagen alpha-1(V) chain
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 2071595
Title: Complete primary structure of human collagen alpha 1 (V) chain.
PubMed ID: 2071595
PubMed ID: 1722213
Title: The pro-alpha-1(V) collagen chain: complete primary structure, distribution of expression, and comparison with the pro-alpha-1(XI) collagen chain.
PubMed ID: 1722213
PubMed ID: 15164053
Title: DNA sequence and analysis of human chromosome 9.
PubMed ID: 15164053
DOI: 10.1038/nature02465
PubMed ID: 2496661
Title: Covalent structure of collagen: amino acid sequence of three cyanogen bromide-derived peptides from human alpha 1(V) collagen chain.
PubMed ID: 2496661
PubMed ID: 2203476
Title: Primary structure of the heparin-binding site of type V collagen.
PubMed ID: 2203476
PubMed ID: 1571108
Title: Isolation of the alpha 3-chain of human type V collagen and characterization by partial sequencing.
PubMed ID: 1571108
PubMed ID: 8181482
Title: Diversity in the processing events at the N-terminus of type-V collagen.
PubMed ID: 8181482
PubMed ID: 9099729
Title: The membrane-spanning proteoglycan NG2 binds to collagens V and VI through the central nonglobular domain of its core protein.
PubMed ID: 9099729
PubMed ID: 22149965
Title: Characterization of tissue-specific and developmentally regulated alternative splicing of exon 64 in the COL5A1 gene.
PubMed ID: 22149965
PubMed ID: 9042913
Title: Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.
PubMed ID: 9042913
PubMed ID: 10471441
Title: Mutations in the COL5A1 coding sequence are not common in patients with spontaneous cervical artery dissections.
PubMed ID: 10471441
PubMed ID: 10602121
Title: Compound heterozygosity for a disease-causing G1489E and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?
PubMed ID: 10602121
DOI: 10.1002/(sici)1096-8628(20000103)90:1<72::aid-ajmg13>3.0.co;2-c
PubMed ID: 11992482
Title: Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome.
PubMed ID: 11992482
DOI: 10.1002/ajmg.10373
PubMed ID: 15580559
Title: The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.
PubMed ID: 15580559
DOI: 10.1002/humu.20107
PubMed ID: 18972565
Title: COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome.
PubMed ID: 18972565
DOI: 10.1002/humu.20887
PubMed ID: 21248752
Title: Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.
PubMed ID: 21248752
DOI: 10.1038/nature09639
PubMed ID: 26477546
Title: Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
PubMed ID: 26477546
PubMed ID: 32938213
Title: A novel recurrent COL5A1 genetic variant is associated with a dysplasia-associated arterial disease exhibiting dissections and fibromuscular dysplasia.
PubMed ID: 32938213
Sequence Information:
- Length: 1838
- Mass: 183560
- Checksum: 8F18AB0B91B3A0C7
- Sequence:
MDVHTRWKAR SALRPGAPLL PPLLLLLLWA PPPSRAAQPA DLLKVLDFHN LPDGITKTTG FCATRRSSKG PDVAYRVTKD AQLSAPTKQL YPASAFPEDF SILTTVKAKK GSQAFLVSIY NEQGIQQIGL ELGRSPVFLY EDHTGKPGPE DYPLFRGINL SDGKWHRIAL SVHKKNVTLI LDCKKKTTKF LDRSDHPMID INGIIVFGTR ILDEEVFEGD IQQLLFVSDH RAAYDYCEHY SPDCDTAVPD TPQSQDPNPD EYYTEGDGEG ETYYYEYPYY EDPEDLGKEP TPSKKPVEAA KETTEVPEEL TPTPTEAAPM PETSEGAGKE EDVGIGDYDY VPSEDYYTPS PYDDLTYGEG EENPDQPTDP GAGAEIPTST ADTSNSSNPA PPPGEGADDL EGEFTEETIR NLDENYYDPY YDPTSSPSEI GPGMPANQDT IYEGIGGPRG EKGQKGEPAI IEPGMLIEGP PGPEGPAGLP GPPGTMGPTG QVGDPGERGP PGRPGLPGAD GLPGPPGTML MLPFRFGGGG DAGSKGPMVS AQESQAQAIL QQARLALRGP AGPMGLTGRP GPVGPPGSGG LKGEPGDVGP QGPRGVQGPP GPAGKPGRRG RAGSDGARGM PGQTGPKGDR GFDGLAGLPG EKGHRGDPGP SGPPGPPGDD GERGDDGEVG PRGLPGEPGP RGLLGPKGPP GPPGPPGVTG MDGQPGPKGN VGPQGEPGPP GQQGNPGAQG LPGPQGAIGP PGEKGPLGKP GLPGMPGADG PPGHPGKEGP PGEKGGQGPP GPQGPIGYPG PRGVKGADGI RGLKGTKGEK GEDGFPGFKG DMGIKGDRGE IGPPGPRGED GPEGPKGRGG PNGDPGPLGP PGEKGKLGVP GLPGYPGRQG PKGSIGFPGF PGANGEKGGR GTPGKPGPRG QRGPTGPRGE RGPRGITGKP GPKGNSGGDG PAGPPGERGP NGPQGPTGFP GPKGPPGPPG KDGLPGHPGQ RGETGFQGKT GPPGPPGVVG PQGPTGETGP MGERGHPGPP GPPGEQGLPG LAGKEGTKGD PGPAGLPGKD GPPGLRGFPG DRGLPGPVGA LGLKGNEGPP GPPGPAGSPG ERGPAGAAGP IGIPGRPGPQ GPPGPAGEKG APGEKGPQGP AGRDGLQGPV GLPGPAGPVG PPGEDGDKGE IGEPGQKGSK GDKGEQGPPG PTGPQGPIGQ PGPSGADGEP GPRGQQGLFG QKGDEGPRGF PGPPGPVGLQ GLPGPPGEKG ETGDVGQMGP PGPPGPRGPS GAPGADGPQG PPGGIGNPGA VGEKGEPGEA GEPGLPGEGG PPGPKGERGE KGESGPSGAA GPPGPKGPPG DDGPKGSPGP VGFPGDPGPP GEPGPAGQDG PPGDKGDDGE PGQTGSPGPT GEPGPSGPPG KRGPPGPAGP EGRQGEKGAK GEAGLEGPPG KTGPIGPQGA PGKPGPDGLR GIPGPVGEQG LPGSPGPDGP PGPMGPPGLP GLKGDSGPKG EKGHPGLIGL IGPPGEQGEK GDRGLPGPQG SSGPKGEQGI TGPSGPIGPP GPPGLPGPPG PKGAKGSSGP TGPKGEAGHP GPPGPPGPPG EVIQPLPIQA SRTRRNIDAS QLLDDGNGEN YVDYADGMEE IFGSLNSLKL EIEQMKRPLG TQQNPARTCK DLQLCHPDFP DGEYWVDPNQ GCSRDSFKVY CNFTAGGSTC VFPDKKSEGA RITSWPKENP GSWFSEFKRG KLLSYVDAEG NPVGVVQMTF LRLLSASAHQ NVTYHCYQSV AWQDAATGSY DKALRFLGSN DEEMSYDNNP YIRALVDGCA TKKGYQKTVL EIDTPKVEQV PIVDIMFNDF GEASQKFGFE VGPACFMG
Genular Protein ID: 3159232055
Symbol: B2ZZ86_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 18487259
Title: Fine expression profiling of full-length transcripts using a size-unbiased cDNA library prepared with the vector-capping method.
PubMed ID: 18487259
Sequence Information:
- Length: 1838
- Mass: 183590
- Checksum: 89555ECC95357057
- Sequence:
MDVHTRWKAR SALRPGAPLL PPLLLLLLWA PPPSRAAQPA DLLKVLDFHN LPDGITKTTG FCATRRSSKG PDVAYRVTKD AQLSAPTKQL YPASAFPEDF SILTTVKAKK GSQAFLVSIY NEQGIQQIGL ELGRSPVFLY EDHTGKPGPE DYPLFRGINL SDGKWHRIAL SVHKKNVTLI LDCKKKTTKF LDRSDHPMID INGIIVFGTR ILDEEVFEGD IQQLLFVSDH RAAYDYCEHY SPDCDTAVPD TPQSQDPNPD EYYTEGDGEG ETYYYEYPYY EDPEDLGKEP TPSKKPVEAA KETTEVPEEL TPTPTEAAPM PETSEGAGKE EDVGIGDYDY VPSEDYYTPS PYDDLTYGEG EENPDQPTDP GAGAEIPTST ADTSNSSNPA PPPGEGADDL EGEFTEETIR NLDENYYDPY YDPTSSPSEI GPGMPANQDT IYEGIGGPRG EKGQKGEPAI IEPGMLIEGP PGPEGPAGLP GPPGTMGPTG QVGDPGERGP PGRPGLPGAD GLPGPPGTML MLPFRFGGGS DAGSKGPMVS AQESQAQAIL QQARLALRGP AGPMGLTGRP GPVGPPGSGG LKGEPGDVGP QGPRGVQGPP GPAGKPGRRG RAGSDGARGM PGQTGPKGDR GFDGLAGLPG EKGHRGDPGP SGPPGPPGDD GERGDDGEVG PRGLPGEPGP RGLLGPKGPP GPPGPPGVTG MDGQPGPKGN VGPQGEPGPP GQQGNPGAQG LPGPQGAIGP PGEKGPLGKP GLPGMPGADG PPGHPGKEGP PGEKGGQGPP GPQGPIGYPG PRGVKGADGI RGLKGTKGEK GEDGFPGFKG DMGIKGDRGE IGPPGPRGED GPEGPKGRGG PNGDPGPLGP PGEKGKLGVP GLPGYPGRQG PKGSIGFPGF PGANGEKGGR GTPGKPGPRG QRGPTGPRGE RGPRGITGKP GPKGNSGGDG PAGPPGERGP NGPQGPTGFP GPKGPPGPPG KDGLPGHPGQ RGETGFQGKT GPPGPPGVVG PQGPTGETGP MGERGHPGPP GPPGEQGLPG LAGKEGTKGD PGPAGLPGKD GPPGLRGFPG DRGLPGPVGA LGLKGNEGPP GPPGPAGSPG ERGPAGAAGP IGIPGRPGPQ GPPGPAGEKG APGEKGPQGP AGRDGLQGPV GLPGPAGPVG PPGEDGDKGE IGEPGQKGSK GDKGEQGPPG PTGPQGPIGQ PGPSGADGEP GPRGQQGLFG QKGDEGPRGF PGPPGPVGLQ GLPGPPGEKG ETGDVGQMGP PGPPGPRGPS GAPGADGPQG PPGGIGNPGA VGEKGEPGEA GEPGLPGEGG PPGPKGERGE KGESGPSGAA GPPGPKGPPG DDGPKGSPGP VGFPGDPGPP GEPGPAGQDG PPGDKGDDGE PGQTGSPGPT GEPGPSGPPG KRGPPGPAGP EGRQGEKGAK GEAGLEGPPG KTGPIGPQGA PGKPGPDGLR GIPGPVGEQG LPGSPGPDGP PGPMGPPGLP GLKGDSGPKG EKGHPGLIGL IGPPGEQGEK GDRGLPGPQG SSGPKGEQGI TGPSGPIGPP GPPGLPGPPG PKGAKGSSGP TGPKGEAGHP GPPGPPGPPG EVIQPLPIQA SRTRRNIDAS QLLDDGNGEN YVDYADGMEE IFGSLNSLKL EIEQMKRPLG TQQNPARTCK DLQLCHPDFP DGEYWVDPNQ GCSRDSFKVY CNFTAGGSTC VFPDKKSEGA RITSWPKENP GSWFSEFKRG KLLSYVDAEG NPVGVVQMTF LRLLSASAHQ NVTYHCYQSV AWQDAATGSY DKALRFLGSN DEEMSYDNNP YIRALVDGCA TKKGYQKTVL EIDTPKVEQV PIVDIMFNDF GEASQKFGFE VGPACFMG
Genular Protein ID: 1410824138
Symbol: Q59EE7_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 1792
- Mass: 178517
- Checksum: E47B3093C34C5A9D
- Sequence:
DFHNLPDGIT KTTGFCATRR SSKGPDVAYR VTKDAQLSAP TKQLYPASAF PEDFSILTTV KAKKGSQAFL VSIYNEQGIQ QIGLELGRSP VFLYEDHTGK PGPEDYPLFR GINLSDGKWH RIALSVHKKN VTLILDCKKK TTKFLDRSDH PMIDINGIIV FGTRILDEEV FEGDIQQLLF VSDHRAAYDY CEHYSPDCDT AVPDTPQSQD PNPDEYYTEG DGEGETYYYE YPYYEDPEDL GKEPTPSKKP VEAAKETTEV PEELTPTPTE AAPMPETSEG AGKEEDVGIG DYDYVPSEDY YTPSPYDDLT YGEGEENPDQ PTDPGAGAEI PTSTADTSNS SNPAPPPGEG ADDLEGEFTE ETIRNLDENY YDPYYDPTSS PSEIGPGMPA NQDTIYEGIG GPRGEKGQKG EPAIIEPGML IEGPPGPEGP AGLPGPPGTM GPTGQVGDPG ERGPPGRPGL PGADGLPGPP GTMLMLPFRF GGGGDAGSKG PMVSAQESQA QAILQQARLA LRGPAGPMGL TGRPGPVGPP GSGGLKGEPG DVGPQGPRGV QGPPGPAGKP GRRGRAGSDG ARGMPGQTGP KGDRGFDGLA GLPGEKGHRG DPGPSGPPGP PGDDGERGDD GEVGPRGLPG EPGPRGLLGP KGPPGPPGPP GVTGMDGQPG PKGNVGPQGE PGPPGQQGNP GAQGLPGPQG AIGPPGEKGP LGKPGLPGMP GADGPPGHPG KEGPPGEKGG QGPPGPQGPI GYPGPRGVKG ADGIRGLKGT KGEKGEDGFP GFKGDMGIKG DRGEIGPPGP RGEDGPEGPK GRGGPNGDPG PLGPPGEKGK LGVPGLPGYP GRQGPKGSIG FPGFPGANGE KGGRGTPGKP GPRGQRGPTG PRGERGPRGI TGKPGPKGNS GGDGPAGPPG ERGPNGPQGP TGFPGPKGPP GPPGKDGLPG HPGQRGETGF QGKTGPPGPP GVVGPQGPTG ETGPMGERGH PGPPGPPGEQ GLPGLAGKEG TKGDPGPAGL PGKDGPPGLR GFPGDRGLPG PVGALGLKGN EGPPGPPGPA GSPGERGPAG AAGPIGIPGR PGPQGPPGPA GEKGAPGEKG PQGPAGRDGL QGPVGLPGPA GPVGPPGEDG DKGEIGEPGQ KGSKGDKGEQ GPPGPTGPQG PIGQPGPSGA DGEPGPRGQQ GLFGQKGDEG PRGFPGPPGP VGLQGLPGPP GEKGETGDVG QMGPPGPPGP RGPSGAPGAD GPQGPPGGIG NPGAVGEKGE PGEAGEPGLP GEGGPPGPKG ERGEKGESGP SGAAGPPGPK GPPGDDGPKG SPGPVGFPGD PGPPGEPGPA GQDGPPGDKG DDGEPGQTGS PGPTGEPGPS GPPGKRGPPG PAGPEGRQGE KGAKGEAGLE GPPGKTGPIG PQGAPGKPGP DGLRGIPGPV GEQGLPGSPG PDGPPGPMGP PGLPGLKGDS GPKGEKGHPG LIGLIGPPGE QGEKGDRGLP GPQGSSGPKG EQGITGPSGP IGPPGPPGLP GPPGPKGAKG SSGPTGPKGE AGHPGPPGPP GPPGEVIQPL PIQASRTRRN IDASQLLDDG NGENYVDYAD GMEEIFGSLN SLKLEIEQMK RPLGTQQNPA RTCKDLQLCH PDFPDGEYWV DPNQGCSRDS FKVYCNFTAG GSTCVFPDKK SEGARITSWP KENPGSWFSE FKRGKLLSYV DAEGNPVGVV QMTFLRLLSA SAHQNVTYHC YQSVAWQDAA TGSYDKALRF LGSNDEEMSY DNNPYIRALV DGCATKKGYQ KTVLEIDTPK VEQVPIVDIM FNDFGEASQK FGFEVGPACF MG
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.