Details for: COL11A1

Gene ID: 1301

Symbol: COL11A1

Ensembl ID: ENSG00000060718

Description: collagen type XI alpha 1 chain

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 3.67
    Marker Score: 15305
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 2.51
    Marker Score: 6839
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.18
    Marker Score: 9029
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 2.08
    Marker Score: 2567
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 2.02
    Marker Score: 19029
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.9
    Marker Score: 33719
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 1.89
    Marker Score: 536
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.86
    Marker Score: 18741
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.84
    Marker Score: 113081
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.61
    Marker Score: 16606
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.61
    Marker Score: 61014
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 1.57
    Marker Score: 2155
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 1.53
    Marker Score: 5925
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.46
    Marker Score: 13850
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.34
    Marker Score: 2071
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.28
    Marker Score: 405
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.23
    Marker Score: 8009
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.23
    Marker Score: 2322
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.22
    Marker Score: 2687
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.21
    Marker Score: 2470
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.16
    Marker Score: 698
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 1.15
    Marker Score: 369
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.14
    Marker Score: 720
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.13
    Marker Score: 331
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.12
    Marker Score: 1191
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.11
    Marker Score: 7406
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.1
    Marker Score: 1187
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 1.08
    Marker Score: 898
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.03
    Marker Score: 788
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71789
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48014
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30405
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.97
    Marker Score: 544
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.96
    Marker Score: 721
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5340
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2738
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 0.91
    Marker Score: 530
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.91
    Marker Score: 790
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.89
    Marker Score: 19026
  • Cell Name: chondrocyte (CL0000138)
    Fold Change: 0.88
    Marker Score: 397
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5278
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.8
    Marker Score: 528
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.78
    Marker Score: 383
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1256
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 703
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.76
    Marker Score: 3095
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 392
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.74
    Marker Score: 3108
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.74
    Marker Score: 11571
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.72
    Marker Score: 1486
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.7
    Marker Score: 6006
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.68
    Marker Score: 622.5
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.68
    Marker Score: 754
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.66
    Marker Score: 436
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.66
    Marker Score: 912
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 0.65
    Marker Score: 3406
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.65
    Marker Score: 1099
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.62
    Marker Score: 335
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.61
    Marker Score: 977.5
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.6
    Marker Score: 190
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.59
    Marker Score: 241
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.59
    Marker Score: 206
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.58
    Marker Score: 462
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.57
    Marker Score: 218
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.56
    Marker Score: 148
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.55
    Marker Score: 231
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.55
    Marker Score: 629
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.54
    Marker Score: 218
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.54
    Marker Score: 1095
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.54
    Marker Score: 257
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 0.53
    Marker Score: 154
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.52
    Marker Score: 2402
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.51
    Marker Score: 179
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.51
    Marker Score: 2720
  • Cell Name: meningeal macrophage (CL0000879)
    Fold Change: 0.5
    Marker Score: 141
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.49
    Marker Score: 271
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.49
    Marker Score: 460.5
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.49
    Marker Score: 470
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.48
    Marker Score: 581
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.47
    Marker Score: 228
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.46
    Marker Score: 112
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.46
    Marker Score: 503
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 0.44
    Marker Score: 210
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.44
    Marker Score: 1251
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.44
    Marker Score: 526
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.43
    Marker Score: 751
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.4
    Marker Score: 128
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.4
    Marker Score: 175
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.39
    Marker Score: 190
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.39
    Marker Score: 140
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.37
    Marker Score: 116
  • Cell Name: lung neuroendocrine cell (CL1000223)
    Fold Change: 0.37
    Marker Score: 103
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.36
    Marker Score: 209
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.35
    Marker Score: 642
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.35
    Marker Score: 2108
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.35
    Marker Score: 249
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.34
    Marker Score: 427
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.34
    Marker Score: 795

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Other Information

**Key characteristics** - Col11A1 is a secreted protein that is expressed in a variety of tissues, including epithelial cells, endothelial cells, and fibroblasts. - It is a type I transmembrane protein that is composed of 180 amino acids. - It is a key component of the extracellular matrix, where it helps to form the structural framework for cells and tissues. - It is involved in cell migration, adhesion, and signaling. **Pathways and functions** - COL11A1 is involved in the assembly of collagen fibrils by binding to other collagen molecules and facilitating their interaction. - It is also involved in the regulation of cell migration by binding to receptors on the surface of cells and signaling through the ptk2 signaling pathway. - It is involved in the maintenance of the ECM by binding to collagen fibers and preventing them from degrading. - It is also involved in the formation of new blood vessels by binding to collagen and providing structural support for the endothelial cells. **Clinical significance** - Mutations in COL11A1 have been linked to a number of human diseases, including osteoporosis, rheumatoid arthritis, and cancer. - These diseases are characterized by the formation of weak and brittle tissues, which is due to a decrease in the amount of collagen in the ECM. - Gene therapy approaches that target COL11A1 have been developed as a treatment for these diseases.

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

DOI: 10.1016/s0021-9258(19)39343-3

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

DOI: 10.1016/s0021-9258(18)37512-4

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

DOI: 10.1074/jbc.270.16.9486

PubMed ID: 30245514

Title: Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.

PubMed ID: 30245514

DOI: 10.1038/s41436-018-0285-0

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

DOI: 10.1126/science.1133427

PubMed ID: 21035103

Title: Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.

PubMed ID: 21035103

DOI: 10.1016/j.ajhg.2010.10.009

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. For the full schema, download it here.