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Protein

Collagen alpha-3(VI) chain

Gene

COL6A3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Collagen VI acts as a cell-binding protein.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei3122 – 3123Reactive bond2

GO - Molecular functioni

GO - Biological processi

  • cell adhesion Source: UniProtKB-KW
  • collagen catabolic process Source: Reactome
  • extracellular matrix organization Source: Reactome
  • muscle organ development Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Protease inhibitor, Serine protease inhibitor

Keywords - Biological processi

Cell adhesion

Enzyme and pathway databases

BioCyciZFISH:ENSG00000163359-MONOMER.
ReactomeiR-HSA-1442490. Collagen degradation.
R-HSA-1650814. Collagen biosynthesis and modifying enzymes.
R-HSA-186797. Signaling by PDGF.
R-HSA-2022090. Assembly of collagen fibrils and other multimeric structures.
R-HSA-216083. Integrin cell surface interactions.
R-HSA-3000178. ECM proteoglycans.
R-HSA-419037. NCAM1 interactions.

Protein family/group databases

MEROPSiI02.968.

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen alpha-3(VI) chain
Gene namesi
Name:COL6A3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:2213. COL6A3.

Subcellular locationi

GO - Cellular componenti

  • collagen type VI trimer Source: ProtInc
  • endoplasmic reticulum lumen Source: Reactome
  • extracellular exosome Source: UniProtKB
  • extracellular matrix Source: UniProtKB
  • extracellular region Source: Reactome
  • extracellular space Source: BHF-UCL
  • extracellular vesicle Source: UniProtKB
  • proteinaceous extracellular matrix Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Bethlem myopathy 1 (BTHLM1)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles.
See also OMIM:158810
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058245677R → H in BTHLM1; unknown pathological significance. 2 PublicationsCorresponds to variant rs35227432dbSNPEnsembl.1
Natural variantiVAR_0582481014K → E in BTHLM1. 1 PublicationCorresponds to variant rs114284669dbSNPEnsembl.1
Natural variantiVAR_0582501386E → K in BTHLM1. 1 PublicationCorresponds to variant rs146092501dbSNPEnsembl.1
Natural variantiVAR_0582521467N → D in BTHLM1. 1 PublicationCorresponds to variant rs138049094dbSNPEnsembl.1
Natural variantiVAR_0019101679G → E in BTHLM1. 2 PublicationsCorresponds to variant rs121434553dbSNPEnsembl.1
Natural variantiVAR_0582571726L → R in BTHLM1. 1 PublicationCorresponds to variant rs121434555dbSNPEnsembl.1
Natural variantiVAR_0582581985V → M in BTHLM1. 1 PublicationCorresponds to variant rs200478135dbSNPEnsembl.1
Natural variantiVAR_0582592047G → D in BTHLM1. 1 Publication1
Natural variantiVAR_0582602056G → R in BTHLM1. 1 Publication1
Natural variantiVAR_0582612080G → D in BTHLM1. 1 PublicationCorresponds to variant rs794727188dbSNPEnsembl.1
Natural variantiVAR_0582642941A → V in BTHLM1. 1 PublicationCorresponds to variant rs11903206dbSNPEnsembl.1
Ullrich congenital muscular dystrophy 1 (UCMD1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy.
See also OMIM:254090
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0582491064R → Q in UCMD1; unknown pathological significance. 1 PublicationCorresponds to variant rs112638391dbSNPEnsembl.1
Natural variantiVAR_0582511395R → Q in UCMD1. 1 PublicationCorresponds to variant rs80272723dbSNPEnsembl.1
Natural variantiVAR_0582551674D → N in UCMD1. 1 PublicationCorresponds to variant rs778940391dbSNPEnsembl.1
Dystonia 27 (DYT27)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT27 is an autosomal recessive form characterized by segmental isolated dystonia involving the face, neck, bulbar muscles, and upper limbs.
See also OMIM:616411
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0738362501R → H in DYT27. 1 PublicationCorresponds to variant rs541928674dbSNPEnsembl.1
Natural variantiVAR_0738372554A → T in DYT27. 1 PublicationCorresponds to variant rs786205870dbSNPEnsembl.1
Natural variantiVAR_0738383043R → H in DYT27. 1 PublicationCorresponds to variant rs552651651dbSNPEnsembl.1
Natural variantiVAR_0738393082P → R in DYT27. 1 PublicationCorresponds to variant rs182976977dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Dystonia

Organism-specific databases

DisGeNETi1293.
MalaCardsiCOL6A3.
MIMi158810. phenotype.
254090. phenotype.
616411. phenotype.
OpenTargetsiENSG00000163359.
Orphaneti610. Bethlem myopathy.
75840. Congenital muscular dystrophy, Ullrich type.
PharmGKBiPA26729.

Chemistry databases

ChEMBLiCHEMBL2364188.

Polymorphism and mutation databases

BioMutaiCOL6A3.
DMDMi311033499.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 25Sequence analysisAdd BLAST25
ChainiPRO_000000584726 – 3177Collagen alpha-3(VI) chainAdd BLAST3152

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei26Pyrrolidone carboxylic acidCurated1
Glycosylationi108N-linked (GlcNAc...)Sequence analysis1
Glycosylationi116N-linked (GlcNAc...)Sequence analysis1
Glycosylationi202N-linked (GlcNAc...)Sequence analysis1
Glycosylationi251N-linked (GlcNAc...)Sequence analysis1
Modified residuei433PhosphothreonineCombined sources1
Modified residuei1225PhosphoserineCombined sources1
Glycosylationi2079N-linked (GlcNAc...)1 Publication1
Disulfide bondi2087InterchainPROSITE-ProRule annotation
Modified residuei21004-hydroxyproline1 Publication1
Modified residuei21035-hydroxylysine; alternate1 Publication1
Glycosylationi2103O-linked (Gal...); alternate1
Modified residuei22064-hydroxyproline1 Publication1
Modified residuei22095-hydroxylysine; alternate1 Publication1
Glycosylationi2209O-linked (Gal...); alternate1
Modified residuei22125-hydroxylysine; alternate1 Publication1
Glycosylationi2212O-linked (Gal...); alternate1
Modified residuei22394-hydroxyproline1 Publication1
Modified residuei23164-hydroxyproline1 Publication1
Modified residuei23194-hydroxyproline1 Publication1
Modified residuei23225-hydroxylysine; alternate1 Publication1
Glycosylationi2322O-linked (Gal...); alternate1
Glycosylationi2331N-linked (GlcNAc...)Sequence analysis1
Modified residuei23375-hydroxylysine; alternate1 Publication1
Glycosylationi2337O-linked (Gal...); alternate1
Glycosylationi2558N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2677N-linked (GlcNAc...)2 Publications1
Glycosylationi2861N-linked (GlcNAc...)Sequence analysis1
Glycosylationi3037N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi3112 ↔ 3162PROSITE-ProRule annotation
Disulfide bondi3121 ↔ 3145PROSITE-ProRule annotation
Disulfide bondi3137 ↔ 3158PROSITE-ProRule annotation

Post-translational modificationi

Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.1 Publication
The N-terminus is blocked.

Keywords - PTMi

Disulfide bond, Glycoprotein, Hydroxylation, Phosphoprotein, Pyrrolidone carboxylic acid

Proteomic databases

EPDiP12111.
MaxQBiP12111.
PaxDbiP12111.
PeptideAtlasiP12111.
PRIDEiP12111.

PTM databases

iPTMnetiP12111.
PhosphoSitePlusiP12111.

Expressioni

Gene expression databases

BgeeiENSG00000163359.
CleanExiHS_COL6A3.
ExpressionAtlasiP12111. baseline and differential.
GenevisibleiP12111. HS.

Organism-specific databases

HPAiHPA010080.

Interactioni

Subunit structurei

Trimers composed of three different chains: alpha-1(VI), alpha-2(VI), and alpha-3(VI) or alpha-5(VI) or alpha-6(VI).

Protein-protein interaction databases

BioGridi107690. 1 interactor.
IntActiP12111. 6 interactors.
MINTiMINT-4053347.
STRINGi9606.ENSP00000295550.

Structurei

Secondary structure

13177
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi3110 – 3113Combined sources4
Beta strandi3120 – 3122Combined sources3
Beta strandi3125 – 3131Combined sources7
Turni3132 – 3135Combined sources4
Beta strandi3136 – 3142Combined sources7
Beta strandi3144 – 3146Combined sources3
Beta strandi3152 – 3154Combined sources3
Helixi3155 – 3162Combined sources8

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1KNTX-ray1.60A3108-3165[»]
1KTHX-ray0.95A3108-3165[»]
1KUNNMR-A3108-3165[»]
2KNTX-ray1.20A3108-3165[»]
ProteinModelPortaliP12111.
SMRiP12111.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP12111.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini39 – 213VWFA 1PROSITE-ProRule annotationAdd BLAST175
Domaini242 – 419VWFA 2PROSITE-ProRule annotationAdd BLAST178
Domaini445 – 620VWFA 3PROSITE-ProRule annotationAdd BLAST176
Domaini639 – 816VWFA 4PROSITE-ProRule annotationAdd BLAST178
Domaini837 – 1009VWFA 5PROSITE-ProRule annotationAdd BLAST173
Domaini1029 – 1205VWFA 6PROSITE-ProRule annotationAdd BLAST177
Domaini1233 – 1404VWFA 7PROSITE-ProRule annotationAdd BLAST172
Domaini1436 – 1609VWFA 8PROSITE-ProRule annotationAdd BLAST174
Domaini1639 – 1812VWFA 9PROSITE-ProRule annotationAdd BLAST174
Domaini1838 – 2024VWFA 10PROSITE-ProRule annotationAdd BLAST187
Domaini2038 – 2097Collagen-like 1Add BLAST60
Domaini2104 – 2163Collagen-like 2Add BLAST60
Domaini2174 – 2233Collagen-like 3Add BLAST60
Domaini2249 – 2300Collagen-like 4Add BLAST52
Domaini2314 – 2373Collagen-like 5Add BLAST60
Domaini2402 – 2581VWFA 11PROSITE-ProRule annotationAdd BLAST180
Domaini2619 – 2815VWFA 12PROSITE-ProRule annotationAdd BLAST197
Domaini2991 – 3085Fibronectin type-IIIPROSITE-ProRule annotationAdd BLAST95
Domaini3112 – 3162BPTI/Kunitz inhibitorPROSITE-ProRule annotationAdd BLAST51

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni26 – 2038Nonhelical regionAdd BLAST2013
Regioni2039 – 2375Triple-helical regionAdd BLAST337
Regioni2376 – 3177Nonhelical regionAdd BLAST802

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi2040 – 2042Cell attachment site3
Motifi2136 – 2138Cell attachment site3
Motifi2148 – 2150Cell attachment site3
Motifi2154 – 2156Cell attachment site3
Motifi2370 – 2372Cell attachment site3

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi2863 – 2898Thr-richAdd BLAST36
Compositional biasi2908 – 2983Ala-richAdd BLAST76

Sequence similaritiesi

Belongs to the type VI collagen family.Curated
Contains 1 BPTI/Kunitz inhibitor domain.PROSITE-ProRule annotation
Contains 5 collagen-like domains.Curated
Contains 1 fibronectin type-III domain.PROSITE-ProRule annotation
Contains 12 VWFA domains.PROSITE-ProRule annotation

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

eggNOGiKOG3544. Eukaryota.
ENOG41103QR. LUCA.
GeneTreeiENSGT00760000119000.
HOGENOMiHOG000015249.
HOVERGENiHBG051052.
InParanoidiP12111.
KOiK06238.
OMAiSWRPSFR.
OrthoDBiEOG091G14M8.
PhylomeDBiP12111.
TreeFamiTF337483.

Family and domain databases

CDDicd00063. FN3. 1 hit.
Gene3Di2.60.40.10. 1 hit.
3.40.50.410. 12 hits.
4.10.410.10. 1 hit.
InterProiIPR008160. Collagen.
IPR003961. FN3_dom.
IPR013783. Ig-like_fold.
IPR002223. Kunitz_BPTI.
IPR020901. Prtase_inh_Kunz-CS.
IPR002035. VWF_A.
[Graphical view]
PfamiPF01391. Collagen. 1 hit.
PF00014. Kunitz_BPTI. 1 hit.
PF00092. VWA. 12 hits.
[Graphical view]
PRINTSiPR00759. BASICPTASE.
SMARTiSM00131. KU. 1 hit.
SM00327. VWA. 12 hits.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 1 hit.
SSF53300. SSF53300. 12 hits.
SSF57362. SSF57362. 1 hit.
PROSITEiPS00280. BPTI_KUNITZ_1. 1 hit.
PS50279. BPTI_KUNITZ_2. 1 hit.
PS50853. FN3. 1 hit.
PS50234. VWFA. 12 hits.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P12111-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MRKHRHLPLV AVFCLFLSGF PTTHAQQQQA DVKNGAAADI IFLVDSSWTI
60 70 80 90 100
GEEHFQLVRE FLYDVVKSLA VGENDFHFAL VQFNGNPHTE FLLNTYRTKQ
110 120 130 140 150
EVLSHISNMS YIGGTNQTGK GLEYIMQSHL TKAAGSRAGD GVPQVIVVLT
160 170 180 190 200
DGHSKDGLAL PSAELKSADV NVFAIGVEDA DEGALKEIAS EPLNMHMFNL
210 220 230 240 250
ENFTSLHDIV GNLVSCVHSS VSPERAGDTE TLKDITAQDS ADIIFLIDGS
260 270 280 290 300
NNTGSVNFAV ILDFLVNLLE KLPIGTQQIR VGVVQFSDEP RTMFSLDTYS
310 320 330 340 350
TKAQVLGAVK ALGFAGGELA NIGLALDFVV ENHFTRAGGS RVEEGVPQVL
360 370 380 390 400
VLISAGPSSD EIRYGVVALK QASVFSFGLG AQAASRAELQ HIATDDNLVF
410 420 430 440 450
TVPEFRSFGD LQEKLLPYIV GVAQRHIVLK PPTIVTQVIE VNKRDIVFLV
460 470 480 490 500
DGSSALGLAN FNAIRDFIAK VIQRLEIGQD LIQVAVAQYA DTVRPEFYFN
510 520 530 540 550
THPTKREVIT AVRKMKPLDG SALYTGSALD FVRNNLFTSS AGYRAAEGIP
560 570 580 590 600
KLLVLITGGK SLDEISQPAQ ELKRSSIMAF AIGNKGADQA ELEEIAFDSS
610 620 630 640 650
LVFIPAEFRA APLQGMLPGL LAPLRTLSGT PEVHSNKRDI IFLLDGSANV
660 670 680 690 700
GKTNFPYVRD FVMNLVNSLD IGNDNIRVGL VQFSDTPVTE FSLNTYQTKS
710 720 730 740 750
DILGHLRQLQ LQGGSGLNTG SALSYVYANH FTEAGGSRIR EHVPQLLLLL
760 770 780 790 800
TAGQSEDSYL QAANALTRAG ILTFCVGASQ ANKAELEQIA FNPSLVYLMD
810 820 830 840 850
DFSSLPALPQ QLIQPLTTYV SGGVEEVPLA QPESKRDILF LFDGSANLVG
860 870 880 890 900
QFPVVRDFLY KIIDELNVKP EGTRIAVAQY SDDVKVESRF DEHQSKPEIL
910 920 930 940 950
NLVKRMKIKT GKALNLGYAL DYAQRYIFVK SAGSRIEDGV LQFLVLLVAG
960 970 980 990 1000
RSSDRVDGPA SNLKQSGVVP FIFQAKNADP AELEQIVLSP AFILAAESLP
1010 1020 1030 1040 1050
KIGDLHPQIV NLLKSVHNGA PAPVSGEKDV VFLLDGSEGV RSGFPLLKEF
1060 1070 1080 1090 1100
VQRVVESLDV GQDRVRVAVV QYSDRTRPEF YLNSYMNKQD VVNAVRQLTL
1110 1120 1130 1140 1150
LGGPTPNTGA ALEFVLRNIL VSSAGSRITE GVPQLLIVLT ADRSGDDVRN
1160 1170 1180 1190 1200
PSVVVKRGGA VPIGIGIGNA DITEMQTISF IPDFAVAIPT FRQLGTVQQV
1210 1220 1230 1240 1250
ISERVTQLTR EELSRLQPVL QPLPSPGVGG KRDVVFLIDG SQSAGPEFQY
1260 1270 1280 1290 1300
VRTLIERLVD YLDVGFDTTR VAVIQFSDDP KVEFLLNAHS SKDEVQNAVQ
1310 1320 1330 1340 1350
RLRPKGGRQI NVGNALEYVS RNIFKRPLGS RIEEGVPQFL VLISSGKSDD
1360 1370 1380 1390 1400
EVDDPAVELK QFGVAPFTIA RNADQEELVK ISLSPEYVFS VSTFRELPSL
1410 1420 1430 1440 1450
EQKLLTPITT LTSEQIQKLL ASTRYPPPAV ESDAADIVFL IDSSEGVRPD
1460 1470 1480 1490 1500
GFAHIRDFVS RIVRRLNIGP SKVRVGVVQF SNDVFPEFYL KTYRSQAPVL
1510 1520 1530 1540 1550
DAIRRLRLRG GSPLNTGKAL EFVARNLFVK SAGSRIEDGV PQHLVLVLGG
1560 1570 1580 1590 1600
KSQDDVSRFA QVIRSSGIVS LGVGDRNIDR TELQTITNDP RLVFTVREFR
1610 1620 1630 1640 1650
ELPNIEERIM NSFGPSAATP APPGVDTPPP SRPEKKKADI VFLLDGSINF
1660 1670 1680 1690 1700
RRDSFQEVLR FVSEIVDTVY EDGDSIQVGL VQYNSDPTDE FFLKDFSTKR
1710 1720 1730 1740 1750
QIIDAINKVV YKGGRHANTK VGLEHLRVNH FVPEAGSRLD QRVPQIAFVI
1760 1770 1780 1790 1800
TGGKSVEDAQ DVSLALTQRG VKVFAVGVRN IDSEEVGKIA SNSATAFRVG
1810 1820 1830 1840 1850
NVQELSELSE QVLETLHDAM HETLCPGVTD AAKACNLDVI LGFDGSRDQN
1860 1870 1880 1890 1900
VFVAQKGFES KVDAILNRIS QMHRVSCSGG RSPTVRVSVV ANTPSGPVEA
1910 1920 1930 1940 1950
FDFDEYQPEM LEKFRNMRSQ HPYVLTEDTL KVYLNKFRQS SPDSVKVVIH
1960 1970 1980 1990 2000
FTDGADGDLA DLHRASENLR QEGVRALILV GLERVVNLER LMHLEFGRGF
2010 2020 2030 2040 2050
MYDRPLRLNL LDLDYELAEQ LDNIAEKACC GVPCKCSGQR GDRGPIGSIG
2060 2070 2080 2090 2100
PKGIPGEDGY RGYPGDEGGP GERGPPGVNG TQGFQGCPGQ RGVKGSRGFP
2110 2120 2130 2140 2150
GEKGEVGEIG LDGLDGEDGD KGLPGSSGEK GNPGRRGDKG PRGEKGERGD
2160 2170 2180 2190 2200
VGIRGDPGNP GQDSQERGPK GETGDLGPMG VPGRDGVPGG PGETGKNGGF
2210 2220 2230 2240 2250
GRRGPPGAKG NKGGPGQPGF EGEQGTRGAQ GPAGPAGPPG LIGEQGISGP
2260 2270 2280 2290 2300
RGSGGAAGAP GERGRTGPLG RKGEPGEPGP KGGIGNRGPR GETGDDGRDG
2310 2320 2330 2340 2350
VGSEGRRGKK GERGFPGYPG PKGNPGEPGL NGTTGPKGIR GRRGNSGPPG
2360 2370 2380 2390 2400
IVGQKGDPGY PGPAGPKGNR GDSIDQCALI QSIKDKCPCC YGPLECPVFP
2410 2420 2430 2440 2450
TELAFALDTS EGVNQDTFGR MRDVVLSIVN DLTIAESNCP RGARVAVVTY
2460 2470 2480 2490 2500
NNEVTTEIRF ADSKRKSVLL DKIKNLQVAL TSKQQSLETA MSFVARNTFK
2510 2520 2530 2540 2550
RVRNGFLMRK VAVFFSNTPT RASPQLREAV LKLSDAGITP LFLTRQEDRQ
2560 2570 2580 2590 2600
LINALQINNT AVGHALVLPA GRDLTDFLEN VLTCHVCLDI CNIDPSCGFG
2610 2620 2630 2640 2650
SWRPSFRDRR AAGSDVDIDM AFILDSAETT TLFQFNEMKK YIAYLVRQLD
2660 2670 2680 2690 2700
MSPDPKASQH FARVAVVQHA PSESVDNASM PPVKVEFSLT DYGSKEKLVD
2710 2720 2730 2740 2750
FLSRGMTQLQ GTRALGSAIE YTIENVFESA PNPRDLKIVV LMLTGEVPEQ
2760 2770 2780 2790 2800
QLEEAQRVIL QAKCKGYFFV VLGIGRKVNI KEVYTFASEP NDVFFKLVDK
2810 2820 2830 2840 2850
STELNEEPLM RFGRLLPSFV SSENAFYLSP DIRKQCDWFQ GDQPTKNLVK
2860 2870 2880 2890 2900
FGHKQVNVPN NVTSSPTSNP VTTTKPVTTT KPVTTTTKPV TTTTKPVTII
2910 2920 2930 2940 2950
NQPSVKPAAA KPAPAKPVAA KPVATKMATV RPPVAVKPAT AAKPVAAKPA
2960 2970 2980 2990 3000
AVRPPAAAAA KPVATKPEVP RPQAAKPAAT KPATTKPMVK MSREVQVFEI
3010 3020 3030 3040 3050
TENSAKLHWE RAEPPGPYFY DLTVTSAHDQ SLVLKQNLTV TDRVIGGLLA
3060 3070 3080 3090 3100
GQTYHVAVVC YLRSQVRATY HGSFSTKKSQ PPPPQPARSA SSSTINLMVS
3110 3120 3130 3140 3150
TEPLALTETD ICKLPKDEGT CRDFILKWYY DPNTKSCARF WYGGCGGNEN
3160 3170
KFGSQKECEK VCAPVLAKPG VISVMGT
Length:3,177
Mass (Da):343,669
Last modified:November 2, 2010 - v5
Checksum:i56D54CAC4FBB30AF
GO
Isoform 2 (identifier: P12111-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     31-236: Missing.

Show »
Length:2,971
Mass (Da):321,354
Checksum:iBA575D6B63627175
GO
Isoform 3 (identifier: P12111-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     31-236: Missing.
     237-437: Missing.
     1429-1443: AVESDAADIVFLIDS → GEMGASEVLLGAFSI
     1444-3177: Missing.

Note: No experimental confirmation available.
Show »
Length:1,036
Mass (Da):113,224
Checksum:i9614E1488D7CEE0B
GO
Isoform 4 (identifier: P12111-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     31-437: Missing.
     633-832: Missing.

Show »
Length:2,570
Mass (Da):278,203
Checksum:i952E61BE4F03322C
GO
Isoform 5 (identifier: P12111-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     31-236: Missing.
     1429-1443: AVESDAADIVFLIDS → GEMGASEVLLGAFSI
     1444-3177: Missing.

Show »
Length:1,237
Mass (Da):134,707
Checksum:i8B77D527A7B34B6D
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti127 – 128QS → AK in AAB24261 (PubMed:1339440).Curated2
Sequence conflicti137R → L in AAB24261 (PubMed:1339440).Curated1
Sequence conflicti381A → V in BAG65607 (PubMed:14702039).Curated1
Sequence conflicti608F → S in BAG65607 (PubMed:14702039).Curated1
Sequence conflicti885K → E in AAI44596 (PubMed:15489334).Curated1
Sequence conflicti885K → E in AAI50626 (PubMed:15489334).Curated1
Sequence conflicti1282V → A in CAA36267 (PubMed:1689238).Curated1
Sequence conflicti1353 – 1354DD → VV in CAA36267 (PubMed:1689238).Curated2
Sequence conflicti2157P → R in CAA29557 (PubMed:3665927).Curated1
Sequence conflicti2257A → R in CAA36267 (PubMed:1689238).Curated1
Sequence conflicti2257A → R in M20778 (PubMed:3198591).Curated1
Sequence conflicti2287R → P in CAA36267 (PubMed:1689238).Curated1
Sequence conflicti2287R → P in M20778 (PubMed:3198591).Curated1
Sequence conflicti2357D → R in CAA36267 (PubMed:1689238).Curated1
Sequence conflicti2357D → R in M20778 (PubMed:3198591).Curated1
Sequence conflicti2367K → R in CAA36267 (PubMed:1689238).Curated1
Sequence conflicti2367K → R in M20778 (PubMed:3198591).Curated1
Sequence conflicti2441R → T in CAA36267 (PubMed:1689238).Curated1
Sequence conflicti2956Missing in CAA36267 (PubMed:1689238).Curated1
Sequence conflicti2992S → L in CAA36267 (PubMed:1689238).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058242411L → V.1 PublicationCorresponds to variant rs113716915dbSNPEnsembl.1
Natural variantiVAR_058243491D → H.1 PublicationCorresponds to variant rs112010940dbSNPEnsembl.1
Natural variantiVAR_058244492T → S.1 PublicationCorresponds to variant rs113897824dbSNPEnsembl.1
Natural variantiVAR_047279538T → M.Corresponds to variant rs34741387dbSNPEnsembl.1
Natural variantiVAR_047280659R → H.Corresponds to variant rs36092870dbSNPEnsembl.1
Natural variantiVAR_058245677R → H in BTHLM1; unknown pathological significance. 2 PublicationsCorresponds to variant rs35227432dbSNPEnsembl.1
Natural variantiVAR_058246807A → T.1 PublicationCorresponds to variant rs113155945dbSNPEnsembl.1
Natural variantiVAR_058247830A → S.1 PublicationCorresponds to variant rs77181645dbSNPEnsembl.1
Natural variantiVAR_047281886V → E.Corresponds to variant rs9630964dbSNPEnsembl.1
Natural variantiVAR_0582481014K → E in BTHLM1. 1 PublicationCorresponds to variant rs114284669dbSNPEnsembl.1
Natural variantiVAR_0582491064R → Q in UCMD1; unknown pathological significance. 1 PublicationCorresponds to variant rs112638391dbSNPEnsembl.1
Natural variantiVAR_0472821088K → Q.1 PublicationCorresponds to variant rs11896521dbSNPEnsembl.1
Natural variantiVAR_0582501386E → K in BTHLM1. 1 PublicationCorresponds to variant rs146092501dbSNPEnsembl.1
Natural variantiVAR_0582511395R → Q in UCMD1. 1 PublicationCorresponds to variant rs80272723dbSNPEnsembl.1
Natural variantiVAR_0582521467N → D in BTHLM1. 1 PublicationCorresponds to variant rs138049094dbSNPEnsembl.1
Natural variantiVAR_0582531576R → Q.2 PublicationsCorresponds to variant rs61729839dbSNPEnsembl.1
Natural variantiVAR_0582541632R → Q.1 PublicationCorresponds to variant rs111231885dbSNPEnsembl.1
Natural variantiVAR_0582551674D → N in UCMD1. 1 PublicationCorresponds to variant rs778940391dbSNPEnsembl.1
Natural variantiVAR_0019101679G → E in BTHLM1. 2 PublicationsCorresponds to variant rs121434553dbSNPEnsembl.1
Natural variantiVAR_0582561687P → S.1 PublicationCorresponds to variant rs35273032dbSNPEnsembl.1
Natural variantiVAR_0582571726L → R in BTHLM1. 1 PublicationCorresponds to variant rs121434555dbSNPEnsembl.1
Natural variantiVAR_0582581985V → M in BTHLM1. 1 PublicationCorresponds to variant rs200478135dbSNPEnsembl.1
Natural variantiVAR_0582592047G → D in BTHLM1. 1 Publication1
Natural variantiVAR_0582602056G → R in BTHLM1. 1 Publication1
Natural variantiVAR_0582612080G → D in BTHLM1. 1 PublicationCorresponds to variant rs794727188dbSNPEnsembl.1
Natural variantiVAR_0472832218P → L.1 PublicationCorresponds to variant rs36117715dbSNPEnsembl.1
Natural variantiVAR_0582622431D → V.2 Publications1
Natural variantiVAR_0582632453E → K.1 Publication1
Natural variantiVAR_0738362501R → H in DYT27. 1 PublicationCorresponds to variant rs541928674dbSNPEnsembl.1
Natural variantiVAR_0738372554A → T in DYT27. 1 PublicationCorresponds to variant rs786205870dbSNPEnsembl.1
Natural variantiVAR_0472842805N → T.Corresponds to variant rs35848091dbSNPEnsembl.1
Natural variantiVAR_0019112831D → H.3 PublicationsCorresponds to variant rs36104025dbSNPEnsembl.1
Natural variantiVAR_0472852927M → T.1 PublicationCorresponds to variant rs6728818dbSNPEnsembl.1
Natural variantiVAR_0582642941A → V in BTHLM1. 1 PublicationCorresponds to variant rs11903206dbSNPEnsembl.1
Natural variantiVAR_0472862988M → V.2 PublicationsCorresponds to variant rs11690358dbSNPEnsembl.1
Natural variantiVAR_0472873012A → P.1 PublicationCorresponds to variant rs2270669dbSNPEnsembl.1
Natural variantiVAR_0738383043R → H in DYT27. 1 PublicationCorresponds to variant rs552651651dbSNPEnsembl.1
Natural variantiVAR_0472883069T → I.1 PublicationCorresponds to variant rs1131296dbSNPEnsembl.1
Natural variantiVAR_0738393082P → R in DYT27. 1 PublicationCorresponds to variant rs182976977dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04571831 – 437Missing in isoform 4. 1 PublicationAdd BLAST407
Alternative sequenceiVSP_00117231 – 236Missing in isoform 2, isoform 3 and isoform 5. 1 PublicationAdd BLAST206
Alternative sequenceiVSP_043434237 – 437Missing in isoform 3. 1 PublicationAdd BLAST201
Alternative sequenceiVSP_045719633 – 832Missing in isoform 4. 1 PublicationAdd BLAST200
Alternative sequenceiVSP_0434351429 – 1443AVESD…FLIDS → GEMGASEVLLGAFSI in isoform 3 and isoform 5. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_0434361444 – 3177Missing in isoform 3 and isoform 5. 1 PublicationAdd BLAST1734

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X52022 mRNA. Translation: CAA36267.1.
AK092021 mRNA. Translation: BAG52467.1.
AK304870 mRNA. Translation: BAG65607.1.
AC112715 Genomic DNA. Translation: AAY14906.1.
AC112721 Genomic DNA. Translation: AAY24135.1.
BC144595 mRNA. Translation: AAI44596.1.
BC150625 mRNA. Translation: AAI50626.1.
S49432 mRNA. Translation: AAB24261.1.
M20778 mRNA. No translation available.
X06196 mRNA. Translation: CAA29557.1.
M27449 mRNA. Translation: AAA52057.1.
CCDSiCCDS33409.1. [P12111-2]
CCDS33410.2. [P12111-4]
CCDS33411.2. [P12111-5]
CCDS33412.1. [P12111-1]
CCDS54439.1. [P12111-3]
PIRiA59140. CGHU3A.
RefSeqiNP_004360.2. NM_004369.3. [P12111-1]
NP_476505.3. NM_057164.4. [P12111-3]
NP_476506.3. NM_057165.4. [P12111-5]
NP_476507.3. NM_057166.4. [P12111-4]
NP_476508.2. NM_057167.3. [P12111-2]
XP_016858792.1. XM_017003303.1. [P12111-2]
UniGeneiHs.233240.

Genome annotation databases

EnsembliENST00000295550; ENSP00000295550; ENSG00000163359. [P12111-1]
ENST00000353578; ENSP00000315873; ENSG00000163359. [P12111-2]
ENST00000392003; ENSP00000375860; ENSG00000163359. [P12111-3]
ENST00000392004; ENSP00000375861; ENSG00000163359. [P12111-5]
ENST00000409809; ENSP00000386844; ENSG00000163359. [P12111-2]
ENST00000472056; ENSP00000418285; ENSG00000163359. [P12111-4]
GeneIDi1293.
KEGGihsa:1293.
UCSCiuc002vwl.3. human. [P12111-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X52022 mRNA. Translation: CAA36267.1.
AK092021 mRNA. Translation: BAG52467.1.
AK304870 mRNA. Translation: BAG65607.1.
AC112715 Genomic DNA. Translation: AAY14906.1.
AC112721 Genomic DNA. Translation: AAY24135.1.
BC144595 mRNA. Translation: AAI44596.1.
BC150625 mRNA. Translation: AAI50626.1.
S49432 mRNA. Translation: AAB24261.1.
M20778 mRNA. No translation available.
X06196 mRNA. Translation: CAA29557.1.
M27449 mRNA. Translation: AAA52057.1.
CCDSiCCDS33409.1. [P12111-2]
CCDS33410.2. [P12111-4]
CCDS33411.2. [P12111-5]
CCDS33412.1. [P12111-1]
CCDS54439.1. [P12111-3]
PIRiA59140. CGHU3A.
RefSeqiNP_004360.2. NM_004369.3. [P12111-1]
NP_476505.3. NM_057164.4. [P12111-3]
NP_476506.3. NM_057165.4. [P12111-5]
NP_476507.3. NM_057166.4. [P12111-4]
NP_476508.2. NM_057167.3. [P12111-2]
XP_016858792.1. XM_017003303.1. [P12111-2]
UniGeneiHs.233240.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1KNTX-ray1.60A3108-3165[»]
1KTHX-ray0.95A3108-3165[»]
1KUNNMR-A3108-3165[»]
2KNTX-ray1.20A3108-3165[»]
ProteinModelPortaliP12111.
SMRiP12111.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107690. 1 interactor.
IntActiP12111. 6 interactors.
MINTiMINT-4053347.
STRINGi9606.ENSP00000295550.

Chemistry databases

ChEMBLiCHEMBL2364188.

Protein family/group databases

MEROPSiI02.968.

PTM databases

iPTMnetiP12111.
PhosphoSitePlusiP12111.

Polymorphism and mutation databases

BioMutaiCOL6A3.
DMDMi311033499.

Proteomic databases

EPDiP12111.
MaxQBiP12111.
PaxDbiP12111.
PeptideAtlasiP12111.
PRIDEiP12111.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000295550; ENSP00000295550; ENSG00000163359. [P12111-1]
ENST00000353578; ENSP00000315873; ENSG00000163359. [P12111-2]
ENST00000392003; ENSP00000375860; ENSG00000163359. [P12111-3]
ENST00000392004; ENSP00000375861; ENSG00000163359. [P12111-5]
ENST00000409809; ENSP00000386844; ENSG00000163359. [P12111-2]
ENST00000472056; ENSP00000418285; ENSG00000163359. [P12111-4]
GeneIDi1293.
KEGGihsa:1293.
UCSCiuc002vwl.3. human. [P12111-1]

Organism-specific databases

CTDi1293.
DisGeNETi1293.
GeneCardsiCOL6A3.
GeneReviewsiCOL6A3.
H-InvDBHIX0002952.
HGNCiHGNC:2213. COL6A3.
HPAiHPA010080.
MalaCardsiCOL6A3.
MIMi120250. gene.
158810. phenotype.
254090. phenotype.
616411. phenotype.
neXtProtiNX_P12111.
OpenTargetsiENSG00000163359.
Orphaneti610. Bethlem myopathy.
75840. Congenital muscular dystrophy, Ullrich type.
PharmGKBiPA26729.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3544. Eukaryota.
ENOG41103QR. LUCA.
GeneTreeiENSGT00760000119000.
HOGENOMiHOG000015249.
HOVERGENiHBG051052.
InParanoidiP12111.
KOiK06238.
OMAiSWRPSFR.
OrthoDBiEOG091G14M8.
PhylomeDBiP12111.
TreeFamiTF337483.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000163359-MONOMER.
ReactomeiR-HSA-1442490. Collagen degradation.
R-HSA-1650814. Collagen biosynthesis and modifying enzymes.
R-HSA-186797. Signaling by PDGF.
R-HSA-2022090. Assembly of collagen fibrils and other multimeric structures.
R-HSA-216083. Integrin cell surface interactions.
R-HSA-3000178. ECM proteoglycans.
R-HSA-419037. NCAM1 interactions.

Miscellaneous databases

ChiTaRSiCOL6A3. human.
EvolutionaryTraceiP12111.
GeneWikiiCOL6A3.
GenomeRNAii1293.
PROiP12111.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163359.
CleanExiHS_COL6A3.
ExpressionAtlasiP12111. baseline and differential.
GenevisibleiP12111. HS.

Family and domain databases

CDDicd00063. FN3. 1 hit.
Gene3Di2.60.40.10. 1 hit.
3.40.50.410. 12 hits.
4.10.410.10. 1 hit.
InterProiIPR008160. Collagen.
IPR003961. FN3_dom.
IPR013783. Ig-like_fold.
IPR002223. Kunitz_BPTI.
IPR020901. Prtase_inh_Kunz-CS.
IPR002035. VWF_A.
[Graphical view]
PfamiPF01391. Collagen. 1 hit.
PF00014. Kunitz_BPTI. 1 hit.
PF00092. VWA. 12 hits.
[Graphical view]
PRINTSiPR00759. BASICPTASE.
SMARTiSM00131. KU. 1 hit.
SM00327. VWA. 12 hits.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 1 hit.
SSF53300. SSF53300. 12 hits.
SSF57362. SSF57362. 1 hit.
PROSITEiPS00280. BPTI_KUNITZ_1. 1 hit.
PS50279. BPTI_KUNITZ_2. 1 hit.
PS50853. FN3. 1 hit.
PS50234. VWFA. 12 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCO6A3_HUMAN
AccessioniPrimary (citable) accession number: P12111
Secondary accession number(s): A8MT30
, B4E3U5, B7ZMJ7, E9PFQ6, E9PGQ9, Q16501, Q53QF4, Q53QF6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: November 2, 2010
Last modified: November 30, 2016
This is version 198 of the entry and version 5 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.