Gene: Col11a1

Basic information

Tag Content
Uniprot ID Q61245; Q64047; Q80WR4;
Entrez ID 12814
Genbank protein ID AAB33439.1; AAH52161.1; BAA07367.1;
Genbank nucleotide ID NM_007729.3
Ensembl protein ID ENSMUSP00000089793
Ensembl nucleotide ID ENSMUSG00000027966
Gene name Collagen alpha-1(XI) chain
Gene symbol Col11a1
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage E14.5
Data sources Manually collected
Reference 4100752; 11420059;
Functional description May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.
Sequence
MEPWSRWKTK RWIWDLTIST LALTFLFQAR EVRGAAPVDI LKALDFHNSP VGISKTTGFC 60
TNRKNSKDPD VAYRVTEEAQ ISAPTKQLFP GGIFPQDFSI LFTIKPKKGT QAFLLSLYNE 120
HGIQQLGVEV GRSPVFLFED HTGKPTPENY PLFSTVNIAD GKWHRVAISV EKKTVTMIVD 180
CKKKITKPLD RSERSIVDTN GIMVFGTRIL ETDVFQGDIQ QFLITGDPKA AYDYCDHYSP 240
DCDLTSKAAQ AQEPHIDEYA PEDIIEYDYE YGETDYKEAE SVTEMPTFTE ETVAQTEANI 300
VDDFQDYNYG TMEPYQTETP RRVSGSNEPN PVEEGFTEEY LTGEDYDVQR NTSEDILYGN 360
KGVDGRDSDL LVDGDLGEYD FYEYKEYEER TTTSPNEEFG PGVPAETDFT ETSINGHGAY 420
GEKGQKGEPA VVEPGMLVEG PPGPAGPAGL MGPPGLQGPS GLPGDPGDRG PPGRPGLPGA 480
DGLPGPPGTM LMLPFRYGGD GSKGPTISAQ EAQAQAILQQ ARIALRGPPG PMGLTGRPGP 540
VGGPGSAGAK GESGDPGPQG PRGVQGPPGP TGKPGKRGRP GADGGRGMPG ESGSKGDRGF 600
DGLPGLPGDK GHRGERGPQG PPGLPGDDGM RGEDGEIGPR GLPGEAGPRG LLGPRGTPGP 660
PGQPGIGGID GPQGPKGNMG PQGEPGPPGQ QGNPGPQGLP GPQGPIGPPG EKGPQGKPGL 720
AGLPGADGPP GHPGKEGQSG EKGALGPPGP QGPIGYPGPR GVKGADGVRG LKGSKGEKGE 780
DGFPGFKGDM GLKGDRGEVG QVGPRGEDGP EGPKGRAGPT GDPGPSGQAG EKGKLGVPGL 840
PGYPGRQGPK GSTGFPGFPG ANGEKGARGI AGKPGPRGQR GPTGPRGSRG ARGPTGKPGP 900
KGTSGGDGPP GPPGERGPQG PQGPVGFPGP KGPPGPAGKD GLPGHPGQRG ETGFQGKTGP 960
PGPGGVVGPQ GPTGETGPIG ERGHPGPPGP PGEQGLPGAA GKEGAKGDPG PQGISGKDGP 1020
AGIRGFPGER GLPGAQGAPG LKGGEGPQGP QGPVGSPGER GSAGTAGPIG LPGRPGPQGP 1080
PGPAGEKGAP GEKGPQGPAG RDGVQGPVGL PGPAGPAGSP GEDGDKGEIG EPGQKGSKGD 1140
KGENGPPGPP GLQGPVGAPG IAGGDGEPGP RGQQGMFGQK GDEGARGFPG LPGPIGLQGL 1200
PGPPGEKGEN GDVGPMGPPG PPGPRGPQGP NGADGPQGPP GSIGSVGVVG DKGEPGEAGN 1260
PGPPGEAGSG GLKGERGEKG EAGPPGAAGP AGIKGPPGDD GPKGNPGPVG FPGDPGPPGE 1320
PGPAGQDGVG GDKGEDGDPG QPGPPGPSGE AGPPGPPGKR GPPGASGSEG RQGEKGAKGE 1380
AGAEGPPGKT GPVGPQGPSG KPGPEGLRGI PGPVGEQGLP GAAGQDGPPG PLGPPGLPGL 1440
KGDPGSKGEK GHPGLIGLIG PPGEQGEKGD RGLPGTQGSP GAKGDGGIPG PAGPIGPPGP 1500
PGLPGPAGPK GNKGSSGPTG QKGDSGMPGP PGPPGPPGEV IQPLPILSPK KTRRHTESIQ 1560
GDAGDNILDY SDGMEEIFGS LNSLKQDIEH MKFPMGTQTN PARTCKDLQL SHPDFPDGEY 1620
WIDPNQGCSG DSFKVYCNFT AGGETCIYPD KKSEGVRISS WPKEKPGSWY SEFKRGKLLS 1680
YLDVEGNSIN MVQMTFLKLL TASARQNFTY NCHQSAAWYD VLSGSYDKAL RFLGSNDEEM 1740
SYENNPHIKA LYDGCASRKG YEKTVIEINT PKIDQVPIID VMINDFGDQN QKFGFEVGPA 1800
CFLG 1804

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

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Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologCOL11A1100685969J9NYK4Canis lupus familiarisPredictionMore>>
1:1 orthologCOL11A1A0A452ECM1Capra hircusPredictionMore>>
1:1 orthologCOL11A11301P12107Homo sapiensPredictionMore>>
1:1 orthologCol11a112814Q61245CPOE14.5Mus musculusPublicationMore>>
1:1 orthologCOL11A1A0A2I3RPT1Pan troglodytesPredictionMore>>
1:1 orthologCOL11A1100349413G1T5B6Oryctolagus cuniculusPredictionMore>>
1:1 orthologCol11a125654P20909Rattus norvegicusPredictionMore>>
1:1 orthologcol11a1a565402A2RUX5Danio rerioPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005201 extracellular matrix structural constituentIBA
GO:0008201 heparin bindingISO
GO:0030020 extracellular matrix structural constituent conferring tensile strengthRCA
GO:0046872 metal ion bindingIEA
GO:1904399 heparan sulfate bindingISO

GO:Biological Process

GO ID GO Term Evidence
GO:0001502 cartilage condensationIMP
GO:0001503 ossificationIEA
GO:0002063 chondrocyte developmentIMP
GO:0003007 heart morphogenesisIGI
GO:0006029 proteoglycan metabolic processIMP
GO:0007601 visual perceptionISO
GO:0007605 sensory perception of soundISO
GO:0030198 extracellular matrix organizationIBA
GO:0030199 collagen fibril organizationIGI
GO:0030199 collagen fibril organizationIMP
GO:0035987 endodermal cell differentiationIEA
GO:0035989 tendon developmentIGI
GO:0035989 tendon developmentIMP
GO:0042472 inner ear morphogenesisIMP
GO:0048704 embryonic skeletal system morphogenesisIMP
GO:0048705 skeletal system morphogenesisIMP
GO:0050910 detection of mechanical stimulus involved in sensory perception of soundISO
GO:0051216 cartilage developmentIMP
GO:0055010 ventricular cardiac muscle tissue morphogenesisIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005581 collagen trimerIDA
GO:0005592 collagen type XI trimerISO
GO:0005592 collagen type XI trimerIBA
GO:0005615 extracellular spaceIBA
GO:0005615 extracellular spaceHDA
GO:0031012 extracellular matrixIDA
GO:0031012 extracellular matrixIBA
GO:0062023 collagen-containing extracellular matrixISO
GO:0062023 collagen-containing extracellular matrixHDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-1442490 Collagen degradationIEA
R-MMU-1474228 Degradation of the extracellular matrixIEA
R-MMU-1474244 Extracellular matrix organizationIEA
R-MMU-1474290 Collagen formationIEA
R-MMU-162582 Signal TransductionIEA
R-MMU-1650814 Collagen biosynthesis and modifying enzymesIEA
R-MMU-2022090 Assembly of collagen fibrils and other multimeric structuresIEA
R-MMU-3000171 Non-integrin membrane-ECM interactionsIEA
R-MMU-6806834 Signaling by METIEA
R-MMU-8874081 MET activates PTK2 signalingIEA
R-MMU-8875878 MET promotes cell motilityIEA
R-MMU-8948216 Collagen chain trimerizationIEA
R-MMU-9006934 Signaling by Receptor Tyrosine KinasesIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0025 Alternative splicing
KW-0106 Calcium
KW-0176 Collagen
KW-0225 Disease mutation
KW-1015 Disulfide bond
KW-0272 Extracellular matrix
KW-0325 Glycoprotein
KW-0379 Hydroxylation
KW-0479 Metal-binding
KW-1185 Reference proteome
KW-0677 Repeat
KW-0964 Secreted
KW-0732 Signal

Interpro

InterPro ID InterPro Term
IPR008160 Collagen
IPR013320 ConA-like_dom_sf
IPR000885 Fib_collagen_C
IPR001791 Laminin_G

PROSITE

PROSITE ID PROSITE Term
PS51461 NC1_FIB

Pfam

Pfam ID Pfam Term
PF01410 COLFI
PF01391 Collagen

Protein-miRNA interaction