Details for: COL11A1
Associated with
Other Information
Genular Protein ID: 1440024130
Symbol: COBA1_HUMAN
Name: Collagen alpha-1(XI) chain
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 1690726
Title: Pro-alpha 1(XI) collagen. Structure of the amino-terminal propeptide and expression of the gene in tumor cell lines.
PubMed ID: 1690726
PubMed ID: 10486316
Title: Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
PubMed ID: 10486316
DOI: 10.1086/302585
PubMed ID: 16710414
Title: The DNA sequence and biological annotation of human chromosome 1.
PubMed ID: 16710414
DOI: 10.1038/nature04727
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: 3182841
Title: Cloning and sequencing of pro-alpha 1 (XI) collagen cDNA demonstrates that type XI belongs to the fibrillar class of collagens and reveals that the expression of the gene is not restricted to cartilagenous tissue.
PubMed ID: 3182841
PubMed ID: 7721876
Title: Alternative mRNA processing occurs in the variable region of the pro-alpha 1(XI) and pro-alpha 2(XI) collagen chains.
PubMed ID: 7721876
PubMed ID: 30245514
Title: Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.
PubMed ID: 30245514
PubMed ID: 8872475
Title: A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha-1(XI) collagen.
PubMed ID: 8872475
DOI: 10.1093/hmg/5.9.1339
PubMed ID: 16959974
Title: The consensus coding sequences of human breast and colorectal cancers.
PubMed ID: 16959974
PubMed ID: 21035103
Title: Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.
PubMed ID: 21035103
PubMed ID: 20513134
Title: Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
PubMed ID: 20513134
DOI: 10.1002/humu.21257
Sequence Information:
- Length: 1806
- Mass: 181065
- Checksum: 7CBF744263321B43
- Sequence:
MEPWSSRWKT KRWLWDFTVT TLALTFLFQA REVRGAAPVD VLKALDFHNS PEGISKTTGF CTNRKNSKGS DTAYRVSKQA QLSAPTKQLF PGGTFPEDFS ILFTVKPKKG IQSFLLSIYN EHGIQQIGVE VGRSPVFLFE DHTGKPAPED YPLFRTVNIA DGKWHRVAIS VEKKTVTMIV DCKKKTTKPL DRSERAIVDT NGITVFGTRI LDEEVFEGDI QQFLITGDPK AAYDYCEHYS PDCDSSAPKA AQAQEPQIDE YAPEDIIEYD YEYGEAEYKE AESVTEGPTV TEETIAQTEA NIVDDFQEYN YGTMESYQTE APRHVSGTNE PNPVEEIFTE EYLTGEDYDS QRKNSEDTLY ENKEIDGRDS DLLVDGDLGE YDFYEYKEYE DKPTSPPNEE FGPGVPAETD ITETSINGHG AYGEKGQKGE PAVVEPGMLV EGPPGPAGPA GIMGPPGLQG PTGPPGDPGD RGPPGRPGLP GADGLPGPPG TMLMLPFRYG GDGSKGPTIS AQEAQAQAIL QQARIALRGP PGPMGLTGRP GPVGGPGSSG AKGESGDPGP QGPRGVQGPP GPTGKPGKRG RPGADGGRGM PGEPGAKGDR GFDGLPGLPG DKGHRGERGP QGPPGPPGDD GMRGEDGEIG PRGLPGEAGP RGLLGPRGTP GAPGQPGMAG VDGPPGPKGN MGPQGEPGPP GQQGNPGPQG LPGPQGPIGP PGEKGPQGKP GLAGLPGADG PPGHPGKEGQ SGEKGALGPP GPQGPIGYPG PRGVKGADGV RGLKGSKGEK GEDGFPGFKG DMGLKGDRGE VGQIGPRGED GPEGPKGRAG PTGDPGPSGQ AGEKGKLGVP GLPGYPGRQG PKGSTGFPGF PGANGEKGAR GVAGKPGPRG QRGPTGPRGS RGARGPTGKP GPKGTSGGDG PPGPPGERGP QGPQGPVGFP GPKGPPGPPG KDGLPGHPGQ RGETGFQGKT GPPGPGGVVG PQGPTGETGP IGERGHPGPP GPPGEQGLPG AAGKEGAKGD PGPQGISGKD GPAGLRGFPG ERGLPGAQGA PGLKGGEGPQ GPPGPVGSPG ERGSAGTAGP IGLPGRPGPQ GPPGPAGEKG APGEKGPQGP AGRDGVQGPV GLPGPAGPAG SPGEDGDKGE IGEPGQKGSK GDKGENGPPG PPGLQGPVGA PGIAGGDGEP GPRGQQGMFG QKGDEGARGF PGPPGPIGLQ GLPGPPGEKG ENGDVGPMGP PGPPGPRGPQ GPNGADGPQG PPGSVGSVGG VGEKGEPGEA GNPGPPGEAG VGGPKGERGE KGEAGPPGAA GPPGAKGPPG DDGPKGNPGP VGFPGDPGPP GEPGPAGQDG VGGDKGEDGD PGQPGPPGPS GEAGPPGPPG KRGPPGAAGA EGRQGEKGAK GEAGAEGPPG KTGPVGPQGP AGKPGPEGLR GIPGPVGEQG LPGAAGQDGP PGPMGPPGLP GLKGDPGSKG EKGHPGLIGL IGPPGEQGEK GDRGLPGTQG SPGAKGDGGI PGPAGPLGPP GPPGLPGPQG PKGNKGSTGP AGQKGDSGLP GPPGSPGPPG EVIQPLPILS SKKTRRHTEG MQADADDNIL DYSDGMEEIF GSLNSLKQDI EHMKFPMGTQ TNPARTCKDL QLSHPDFPDG EYWIDPNQGC SGDSFKVYCN FTSGGETCIY PDKKSEGVRI SSWPKEKPGS WFSEFKRGKL LSYLDVEGNS INMVQMTFLK LLTASARQNF TYHCHQSAAW YDVSSGSYDK ALRFLGSNDE EMSYDNNPFI KTLYDGCASR KGYEKTVIEI NTPKIDQVPI VDVMINDFGD QNQKFGFEVG PVCFLG
Genular Protein ID: 4023639274
Symbol: Q59HB5_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 1017
- Mass: 99966
- Checksum: A50D0DB279FA164F
- Sequence:
KVTEEKLVKL AQEGKMALKD PKVEQAQLET QVLQVKQEKR ENLEFQDYQD IQEDKVQRIS DVIGSTGFPG FPGANGEKGA RGVAGKPGPR GQRGPTGPRG SRGARGPTGK PGPKGTSGGD GPPGPPGERG PQGPQGPVGF PGPKGPPGPP GKDGLPGHPG QRGETGFQGK TGPPGPGGVV GPQGPTGETG PIGERGHPGP PGPPGEQGLP GAAGKEGAKG DPGPQGISGK DGPAGLRGFP GERGLPGAQG APGLKGGEGP QGPPGPVGSP GERGSAGTAG PIGLPGRPGP QGPPGPAGEK GAPGEKGPQG PAGRDGVQGP VGLPGPAGPA GSPGEDGDKG EIGEPGQKGS KGDKGENGPP GPPGLQGPVG APGIAGGDGE PGPRGQQGMF GQKGDEGARG FPGPPGPIGL QGLPGPPGEK GENGDVGPMG PPGPPGPRGP QGPNGADGPQ GPPGSVGSVG GVGEKGEPGE AGNPGPPGEA GVGGPKGERG EKGEAGPPGA AGPPGAKGPP GDDGPKGNPG PVGFPGDPGP PGELGPAGQD GVGGDKGEDG DPGQPGPPGP SGEAGPPGPP GKRGPPGAAG AEGRQGEKGA KGEAGAEGPP GKTGPVGPQG PAGKPGPEGL RGIPGPVGEQ GLPGAAGQDG PPGPMGPPGL PGLKGDPGSK GEKGHPGLIG LIGPPGEQGE KGDRGLPGTQ GSPGAKGDGG IPGPAGPLGP PGPPGLPGPQ GPKGNKGSTG PAGQKGDSGL PGPPGPPGPP GEVIQPLPIL SSKKTRRHTE GMQADADDNI LDYSDGMEEI FGSLNSLKQD IEHMKFPMGT QTNPARTCKD LQLSHPDFPD GEYWIDPNQG CSGDSFKVYC NFTSGGETCI YPDKKSEGVR ISSWPKEKPG SWFSEFKRGK LLSYLDVEGN SINMVQMTFL KLLTASARQN FTYHCHQSAA WYDVSSGSYD KALRFLGSND EEMSYDNNPF IKTLYDGCAS RKGYEKTVIE INTPKIDQVP IVDVMINDFG DQNQKFGFEV GPVCFLG
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.