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P12110

- CO6A2_HUMAN

UniProt

P12110 - CO6A2_HUMAN

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Protein

Collagen alpha-2(VI) chain

Gene

COL6A2

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

Functioni

Collagen VI acts as a cell-binding protein.

GO - Biological processi

  1. axon guidance Source: Reactome
  2. cell adhesion Source: UniProtKB-KW
  3. collagen catabolic process Source: Reactome
  4. extracellular matrix disassembly Source: Reactome
  5. extracellular matrix organization Source: Reactome
  6. protein heterotrimerization Source: MGI
  7. response to glucose Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Enzyme and pathway databases

ReactomeiREACT_121139. Collagen biosynthesis and modifying enzymes.
REACT_13552. Integrin cell surface interactions.
REACT_150180. Assembly of collagen fibrils and other multimeric structures.
REACT_150401. Collagen degradation.
REACT_163906. ECM proteoglycans.
REACT_16888. Signaling by PDGF.
REACT_18312. NCAM1 interactions.

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen alpha-2(VI) chain
Gene namesi
Name:COL6A2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 21

Organism-specific databases

HGNCiHGNC:2212. COL6A2.

Subcellular locationi

Secretedextracellular spaceextracellular matrix 1 Publication. Membrane 1 Publication; Peripheral membrane protein 1 Publication
Note: Recruited on membranes by CSPG4.

GO - Cellular componenti

  1. collagen trimer Source: UniProtKB-KW
  2. endoplasmic reticulum lumen Source: Reactome
  3. extracellular matrix Source: UniProtKB
  4. extracellular region Source: MGI
  5. extracellular space Source: BHF-UCL
  6. extracellular vesicular exosome Source: UniProt
  7. proteinaceous extracellular matrix Source: UniProtKB-KW
  8. protein complex Source: MGI
  9. sarcolemma Source: Ensembl
  10. vesicle Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Bethlem myopathy (BM) [MIM:158810]: A benign autosomal dominant proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti106 – 1061E → K in BM. 1 Publication
Corresponds to variant rs141703710 [ dbSNP | Ensembl ].
VAR_058225
Natural varianti271 – 2711G → S in BM. 1 Publication
VAR_013589
Natural varianti621 – 6211D → N in BM. 1 Publication
VAR_013590
Natural varianti700 – 7001G → S in BM. 1 Publication
VAR_058231
Natural varianti777 – 7771C → R in BM. 1 Publication
VAR_058233
Natural varianti853 – 8531R → Q in BM. 1 Publication
Corresponds to variant rs144830948 [ dbSNP | Ensembl ].
VAR_058237
Natural varianti932 – 9321P → L in BM; results in reduced intracellular collagen VI assembly and secretion. 1 Publication
VAR_058241
Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]: UCMD is a 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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti283 – 2831G → R in UCMD. 1 Publication
VAR_058226
Natural varianti498 – 4981R → H in UCMD. 1 Publication
VAR_058228
Natural varianti531 – 5311G → R in UCMD. 1 Publication
VAR_058230
Natural varianti784 – 7841R → H in UCMD. 1 Publication
Corresponds to variant rs75120695 [ dbSNP | Ensembl ].
VAR_058234
Natural varianti837 – 8371L → P in UCMD; prevents collagen VI assembly. 1 Publication
VAR_058236
Natural varianti876 – 8761R → S in UCMD. 1 Publication
VAR_058238
Natural varianti897 – 8971Missing in UCMD; results in severe collagen VI matrix deficiencies. 1 Publication
VAR_058240
Myosclerosis autosomal recessive (MYOSAR) [MIM:255600]: A condition characterized by chronic inflammation of skeletal muscle with hyperplasia of the interstitial connective tissue. The clinical picture includes slender muscles with firm 'woody' consistency and restriction of movement of many joints because of muscle contractures.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi158810. phenotype.
254090. phenotype.
255600. phenotype.
Orphaneti610. Bethlem myopathy.
75840. Congenital muscular dystrophy, Ullrich type.
289380. Myosclerosis.
PharmGKBiPA26728.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2020Sequence AnalysisAdd
BLAST
Chaini21 – 1019999Collagen alpha-2(VI) chainPRO_0000005832Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi140 – 1401N-linked (GlcNAc...)1 Publication
Glycosylationi327 – 3271N-linked (GlcNAc...)Sequence Analysis
Glycosylationi630 – 6301N-linked (GlcNAc...)Sequence Analysis
Modified residuei701 – 7011Phosphothreonine1 Publication
Modified residuei703 – 7031Phosphothreonine1 Publication
Modified residuei705 – 7051Phosphoserine1 Publication
Glycosylationi785 – 7851N-linked (GlcNAc...)1 Publication
Glycosylationi897 – 8971N-linked (GlcNAc...)1 Publication
Glycosylationi954 – 9541N-linked (GlcNAc...)1 Publication

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.

Keywords - PTMi

Glycoprotein, Hydroxylation, Phosphoprotein

Proteomic databases

MaxQBiP12110.
PaxDbiP12110.
PRIDEiP12110.

2D gel databases

REPRODUCTION-2DPAGEP12110.

PTM databases

PhosphoSiteiP12110.

Miscellaneous databases

PMAP-CutDBP12110.

Expressioni

Gene expression databases

BgeeiP12110.
ExpressionAtlasiP12110. baseline and differential.
GenevestigatoriP12110.

Organism-specific databases

HPAiHPA007029.

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). Interacts with CSPG4.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
DISC1Q9NRI53EBI-928749,EBI-529989

Protein-protein interaction databases

BioGridi107689. 13 interactions.
IntActiP12110. 4 interactions.

Structurei

3D structure databases

ProteinModelPortaliP12110.
SMRiP12110. Positions 615-782.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini46 – 234189VWFA 1PROSITE-ProRule annotationAdd
BLAST
Domaini615 – 805191VWFA 2PROSITE-ProRule annotationAdd
BLAST
Domaini833 – 1014182VWFA 3PROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni21 – 256236Nonhelical regionAdd
BLAST
Regioni257 – 590334Triple-helical regionAdd
BLAST
Regioni591 – 1019429Nonhelical regionAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi366 – 3683Cell attachment siteSequence Analysis
Motifi426 – 4283Cell attachment siteSequence Analysis
Motifi489 – 4913Cell attachment siteSequence Analysis
Motifi498 – 5003Cell attachment siteSequence Analysis
Motifi539 – 5413Cell attachment siteSequence Analysis

Sequence similaritiesi

Belongs to the type VI collagen family.Curated
Contains 3 VWFA domains.PROSITE-ProRule annotation

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

eggNOGiNOG256042.
GeneTreeiENSGT00760000119051.
HOVERGENiHBG051051.
InParanoidiP12110.
KOiK06238.
OMAiDIAWIGF.
OrthoDBiEOG72G16P.
PhylomeDBiP12110.
TreeFamiTF331207.

Family and domain databases

Gene3Di3.40.50.410. 3 hits.
InterProiIPR008160. Collagen.
IPR002035. VWF_A.
[Graphical view]
PfamiPF01391. Collagen. 5 hits.
PF00092. VWA. 3 hits.
[Graphical view]
SMARTiSM00327. VWA. 3 hits.
[Graphical view]
SUPFAMiSSF53300. SSF53300. 3 hits.
PROSITEiPS50234. VWFA. 3 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 2C2 (identifier: P12110-1) [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
MLQGTCSVLL LWGILGAIQA QQQEVISPDT TERNNNCPEK TDCPIHVYFV
60 70 80 90 100
LDTSESVTMQ SPTDILLFHM KQFVPQFISQ LQNEFYLDQV ALSWRYGGLH
110 120 130 140 150
FSDQVEVFSP PGSDRASFIK NLQGISSFRR GTFTDCALAN MTEQIRQDRS
160 170 180 190 200
KGTVHFAVVI TDGHVTGSPC GGIKLQAERA REEGIRLFAV APNQNLKEQG
210 220 230 240 250
LRDIASTPHE LYRNDYATML PDSTEIDQDT INRIIKVMKH EAYGECYKVS
260 270 280 290 300
CLEIPGPSGP KGYRGQKGAK GNMGEPGEPG QKGRQGDPGI EGPIGFPGPK
310 320 330 340 350
GVPGFKGEKG EFGADGRKGA PGLAGKNGTD GQKGKLGRIG PPGCKGDPGN
360 370 380 390 400
RGPDGYPGEA GSPGERGDQG GKGDPGRPGR RGPPGEIGAK GSKGYQGNSG
410 420 430 440 450
APGSPGVKGA KGGPGPRGPK GEPGRRGDPG TKGSPGSDGP KGEKGDPGPE
460 470 480 490 500
GPRGLAGEVG NKGAKGDRGL PGPRGPQGAL GEPGKQGSRG DPGDAGPRGD
510 520 530 540 550
SGQPGPKGDP GRPGFSYPGP RGAPGEKGEP GPRGPEGGRG DFGLKGEPGR
560 570 580 590 600
KGEKGEPADP GPPGEPGPRG PRGVPGPEGE PGPPGDPGLT ECDVMTYVRE
610 620 630 640 650
TCGCCDCEKR CGALDVVFVI DSSESIGYTN FTLEKNFVIN VVNRLGAIAK
660 670 680 690 700
DPKSETGTRV GVVQYSHEGT FEAIQLDDER IDSLSSFKEA VKNLEWIAGG
710 720 730 740 750
TWTPSALKFA YDRLIKESRR QKTRVFAVVI TDGRHDPRDD DLNLRALCDR
760 770 780 790 800
DVTVTAIGIG DMFHEKHESE NLYSIACDKP QQVRNMTLFS DLVAEKFIDD
810 820 830 840 850
MEDVLCPDPQ IVCPDLPCQT ELSVAQCTQR PVDIVFLLDG SERLGEQNFH
860 870 880 890 900
KARRFVEQVA RRLTLARRDD DPLNARVALL QFGGPGEQQV AFPLSHNLTA
910 920 930 940 950
IHEALETTQY LNSFSHVGAG VVHAINAIVR SPRGGARRHA ELSFVFLTDG
960 970 980 990 1000
VTGNDSLHES AHSMRKQNVV PTVLALGSDV DMDVLTTLSL GDRAAVFHEK
1010
DYDSLAQPGF FDRFIRWIC
Length:1,019
Mass (Da):108,579
Last modified:February 6, 2007 - v4
Checksum:i6C513ADE46C1D111
GO
Isoform 2C2A (identifier: P12110-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     821-991: ELSVAQCTQR...MDVLTTLSLG → DAPWPGGEPP...GDPETALALC
     992-1019: Missing.

Show »
Length:918
Mass (Da):97,419
Checksum:i336CB9B6FC8394D8
GO
Isoform 2C2A' (identifier: P12110-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     821-828: ELSVAQCT → GLDGAVLC
     829-1019: Missing.

Show »
Length:828
Mass (Da):87,280
Checksum:i9690A499C8E8827F
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti507 – 5071K → S in AAB20836. (PubMed:1765372)Curated
Sequence conflicti966 – 9672KQ → NE in AAA52056. 1 PublicationCurated
Sequence conflicti966 – 9672KQ → NE in AAA35620. (PubMed:1690728)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti106 – 1061E → K in BM. 1 Publication
Corresponds to variant rs141703710 [ dbSNP | Ensembl ].
VAR_058225
Natural varianti227 – 2271D → N.4 Publications
Corresponds to variant rs35881321 [ dbSNP | Ensembl ].
VAR_048801
Natural varianti271 – 2711G → S in BM. 1 Publication
VAR_013589
Natural varianti283 – 2831G → R in UCMD. 1 Publication
VAR_058226
Natural varianti399 – 3991S → N.6 Publications
Corresponds to variant rs2839110 [ dbSNP | Ensembl ].
VAR_030315
Natural varianti489 – 4891R → Q.1 Publication
Corresponds to variant rs61735828 [ dbSNP | Ensembl ].
VAR_058227
Natural varianti498 – 4981R → H in UCMD. 1 Publication
VAR_058228
Natural varianti518 – 5181P → S.1 Publication
Corresponds to variant rs141166141 [ dbSNP | Ensembl ].
VAR_058229
Natural varianti531 – 5311G → R in UCMD. 1 Publication
VAR_058230
Natural varianti621 – 6211D → N in BM. 1 Publication
VAR_013590
Natural varianti680 – 6801R → H.5 Publications
Corresponds to variant rs1042917 [ dbSNP | Ensembl ].
VAR_030316
Natural varianti700 – 7001G → S in BM. 1 Publication
VAR_058231
Natural varianti724 – 7241R → C.1 Publication
VAR_058232
Natural varianti777 – 7771C → R in BM. 1 Publication
VAR_058233
Natural varianti784 – 7841R → H in UCMD. 1 Publication
Corresponds to variant rs75120695 [ dbSNP | Ensembl ].
VAR_058234
Natural varianti804 – 8041V → G.1 Publication
VAR_058235
Natural varianti837 – 8371L → P in UCMD; prevents collagen VI assembly. 1 Publication
VAR_058236
Natural varianti853 – 8531R → Q in BM. 1 Publication
Corresponds to variant rs144830948 [ dbSNP | Ensembl ].
VAR_058237
Natural varianti876 – 8761R → S in UCMD. 1 Publication
VAR_058238
Natural varianti895 – 8951S → R.1 Publication
Corresponds to variant rs141233891 [ dbSNP | Ensembl ].
VAR_058239
Natural varianti897 – 8971Missing in UCMD; results in severe collagen VI matrix deficiencies. 1 Publication
VAR_058240
Natural varianti932 – 9321P → L in BM; results in reduced intracellular collagen VI assembly and secretion. 1 Publication
VAR_058241
Natural varianti935 – 9351G → R.1 Publication
Corresponds to variant rs35548026 [ dbSNP | Ensembl ].
VAR_048802
Natural varianti1015 – 10151I → L.
Corresponds to variant rs11910483 [ dbSNP | Ensembl ].
VAR_048803

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei821 – 991171ELSVA…TLSLG → DAPWPGGEPPVTFLRTEEGP DATFPRTIPLIQQLLNATEL TQDPAAYSQLVAVLVYTAER AKFATGVERQDWMELFIDTF KLVHRDIVGDPETALALC in isoform 2C2A. 1 PublicationVSP_001163Add
BLAST
Alternative sequencei821 – 8288ELSVAQCT → GLDGAVLC in isoform 2C2A'. CuratedVSP_001161
Alternative sequencei829 – 1019191Missing in isoform 2C2A'. CuratedVSP_001162Add
BLAST
Alternative sequencei992 – 101928Missing in isoform 2C2A. 1 PublicationVSP_001164Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY029208 mRNA. Translation: AAA52056.2.
BC065509 mRNA. Translation: AAH65509.1.
M81835 Genomic DNA. No translation available.
X15977 mRNA. Translation: CAA34099.1.
X06195 mRNA. Translation: CAA29556.1.
S75462
, S75425, S75428, S75430, S75432, S75434, S75436, S75438, S75440, S75442, S75444, S75446, S75448, S75450, S75452, S75454, S75456, S75458, S75460 Genomic DNA. Translation: AAB20836.1.
M34572, M34571 mRNA. Translation: AAA35618.1.
M34572, M34571 mRNA. Translation: AAA35619.1.
M34573, M34571 mRNA. Translation: AAA35620.1.
M34570 mRNA. Translation: AAA35621.1.
AL096746 mRNA. Translation: CAB46421.2.
CCDSiCCDS13728.1. [P12110-1]
CCDS13729.1. [P12110-2]
CCDS13730.1. [P12110-3]
PIRiS05378. CGHU2A.
S09646.
T12549.
RefSeqiNP_001840.3. NM_001849.3. [P12110-1]
NP_478054.2. NM_058174.2. [P12110-2]
NP_478055.2. NM_058175.2. [P12110-3]
UniGeneiHs.420269.

Genome annotation databases

EnsembliENST00000300527; ENSP00000300527; ENSG00000142173. [P12110-1]
ENST00000310645; ENSP00000312529; ENSG00000142173. [P12110-3]
ENST00000397763; ENSP00000380870; ENSG00000142173. [P12110-2]
ENST00000409416; ENSP00000387115; ENSG00000142173. [P12110-3]
GeneIDi1292.
KEGGihsa:1292.
UCSCiuc002zhy.1. human. [P12110-3]
uc002zhz.1. human. [P12110-2]
uc002zia.1. human. [P12110-1]

Polymorphism databases

DMDMi125987812.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY029208 mRNA. Translation: AAA52056.2 .
BC065509 mRNA. Translation: AAH65509.1 .
M81835 Genomic DNA. No translation available.
X15977 mRNA. Translation: CAA34099.1 .
X06195 mRNA. Translation: CAA29556.1 .
S75462
, S75425 , S75428 , S75430 , S75432 , S75434 , S75436 , S75438 , S75440 , S75442 , S75444 , S75446 , S75448 , S75450 , S75452 , S75454 , S75456 , S75458 , S75460 Genomic DNA. Translation: AAB20836.1 .
M34572 , M34571 mRNA. Translation: AAA35618.1 .
M34572 , M34571 mRNA. Translation: AAA35619.1 .
M34573 , M34571 mRNA. Translation: AAA35620.1 .
M34570 mRNA. Translation: AAA35621.1 .
AL096746 mRNA. Translation: CAB46421.2 .
CCDSi CCDS13728.1. [P12110-1 ]
CCDS13729.1. [P12110-2 ]
CCDS13730.1. [P12110-3 ]
PIRi S05378. CGHU2A.
S09646.
T12549.
RefSeqi NP_001840.3. NM_001849.3. [P12110-1 ]
NP_478054.2. NM_058174.2. [P12110-2 ]
NP_478055.2. NM_058175.2. [P12110-3 ]
UniGenei Hs.420269.

3D structure databases

ProteinModelPortali P12110.
SMRi P12110. Positions 615-782.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107689. 13 interactions.
IntActi P12110. 4 interactions.

Chemistry

ChEMBLi CHEMBL2364188.

PTM databases

PhosphoSitei P12110.

Polymorphism databases

DMDMi 125987812.

2D gel databases

REPRODUCTION-2DPAGE P12110.

Proteomic databases

MaxQBi P12110.
PaxDbi P12110.
PRIDEi P12110.

Protocols and materials databases

DNASUi 1292.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000300527 ; ENSP00000300527 ; ENSG00000142173 . [P12110-1 ]
ENST00000310645 ; ENSP00000312529 ; ENSG00000142173 . [P12110-3 ]
ENST00000397763 ; ENSP00000380870 ; ENSG00000142173 . [P12110-2 ]
ENST00000409416 ; ENSP00000387115 ; ENSG00000142173 . [P12110-3 ]
GeneIDi 1292.
KEGGi hsa:1292.
UCSCi uc002zhy.1. human. [P12110-3 ]
uc002zhz.1. human. [P12110-2 ]
uc002zia.1. human. [P12110-1 ]

Organism-specific databases

CTDi 1292.
GeneCardsi GC21P047518.
GeneReviewsi COL6A2.
H-InvDB HIX0016186.
HGNCi HGNC:2212. COL6A2.
HPAi HPA007029.
MIMi 120240. gene.
158810. phenotype.
254090. phenotype.
255600. phenotype.
neXtProti NX_P12110.
Orphaneti 610. Bethlem myopathy.
75840. Congenital muscular dystrophy, Ullrich type.
289380. Myosclerosis.
PharmGKBi PA26728.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG256042.
GeneTreei ENSGT00760000119051.
HOVERGENi HBG051051.
InParanoidi P12110.
KOi K06238.
OMAi DIAWIGF.
OrthoDBi EOG72G16P.
PhylomeDBi P12110.
TreeFami TF331207.

Enzyme and pathway databases

Reactomei REACT_121139. Collagen biosynthesis and modifying enzymes.
REACT_13552. Integrin cell surface interactions.
REACT_150180. Assembly of collagen fibrils and other multimeric structures.
REACT_150401. Collagen degradation.
REACT_163906. ECM proteoglycans.
REACT_16888. Signaling by PDGF.
REACT_18312. NCAM1 interactions.

Miscellaneous databases

ChiTaRSi COL6A2. human.
GeneWikii COL6A2.
GenomeRNAii 1292.
NextBioi 5231.
PMAP-CutDB P12110.
PROi P12110.
SOURCEi Search...

Gene expression databases

Bgeei P12110.
ExpressionAtlasi P12110. baseline and differential.
Genevestigatori P12110.

Family and domain databases

Gene3Di 3.40.50.410. 3 hits.
InterProi IPR008160. Collagen.
IPR002035. VWF_A.
[Graphical view ]
Pfami PF01391. Collagen. 5 hits.
PF00092. VWA. 3 hits.
[Graphical view ]
SMARTi SM00327. VWA. 3 hits.
[Graphical view ]
SUPFAMi SSF53300. SSF53300. 3 hits.
PROSITEi PS50234. VWFA. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Chu M.-L.
    Submitted (APR-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2C2), SEQUENCE REVISION, VARIANTS ASN-227; ASN-399 AND HIS-680.
    Tissue: Fibroblast and Placenta.
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2C2), VARIANT ASN-399.
    Tissue: Ovary.
  3. "Human alpha 2(VI) collagen gene. Heterogeneity at the 5'-untranslated region generated by an alternate exon."
    Saitta B., Timpl R., Chu M.-L.
    J. Biol. Chem. 267:6188-6196(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-266, ALTERNATIVE SPLICING.
  4. "Sequence analysis of alpha 1(VI) and alpha 2(VI) chains of human type VI collagen reveals internal triplication of globular domains similar to the A domains of von Willebrand factor and two alpha 2(VI) chain variants that differ in the carboxy terminus."
    Chu M.-L., Pan T.-C., Conway D., Kuo H.J., Glanville R.W., Timpl R., Mann K., Deutzmann R.
    EMBO J. 8:1939-1946(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-255 AND 591-1019, NUCLEOTIDE SEQUENCE [MRNA] OF 821-1019 (ISOFORM 2C2A).
    Tissue: Fibroblast and Placenta.
  5. "Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen type VI."
    Tillet E., Wiedemann H., Golbik R., Pan T.-C., Zhang R.Z., Mann K., Chu M.-L., Timpl R.
    Eur. J. Biochem. 221:177-185(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 179-185 AND 581-594.
  6. "Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones."
    Chu M.-L., Mann K., Deutzmann R., Pribula-Conway D., Hsu-Chen C.-C., Bernard M.P., Timpl R.
    Eur. J. Biochem. 168:309-317(1987) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 238-299.
  7. "The exon organization of the triple-helical coding regions of the human alpha 1(VI) and alpha 2(VI) collagen genes is highly similar."
    Saitta B., Wang Y.-M., Renkart L., Zhang R.-Z., Pan T.-C., Timpl R., Chu M.-L.
    Genomics 11:145-153(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 246-590, VARIANT ASN-399.
  8. "Further characterization of the three polypeptide chains of bovine and human short-chain collagen (intima collagen)."
    Jander R., Rauterberg J., Glanville R.W.
    Eur. J. Biochem. 133:39-46(1983) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 251-264.
  9. "Amino acid sequence of the triple-helical domain of human collagen type VI."
    Chu M.-L., Conway D., Pan T.-C., Baldwin C., Mann K., Deutzmann R., Timpl R.
    J. Biol. Chem. 263:18601-18606(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 256-590.
  10. "Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen."
    Weil D., Mattei M.-G., Passage E., N'Guyen V.C., Pribula-Conway D., Mann K., Deutzmann R., Timpl R., Chu M.-L.
    Am. J. Hum. Genet. 42:435-445(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 316-359.
    Tissue: Placenta.
  11. "Alternative splicing of the human alpha 2(VI) collagen gene generates multiple mRNA transcripts which predict three protein variants with distinct carboxyl termini."
    Saitta B., Stokes D.G., Vissing H., Timpl R., Chu M.-L.
    J. Biol. Chem. 265:6473-6480(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 591-1019, ALTERNATIVE SPLICING, VARIANT HIS-680.
  12. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 820-1019 (ISOFORM 2C2).
    Tissue: Uterus.
  13. "Expression of NG2 proteoglycan causes retention of type VI collagen on the cell surface."
    Nishiyama A., Stallcup W.B.
    Mol. Biol. Cell 4:1097-1108(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
  14. "The membrane-spanning proteoglycan NG2 binds to collagens V and VI through the central nonglobular domain of its core protein."
    Tillet E., Ruggiero F., Nishiyama A., Stallcup W.B.
    J. Biol. Chem. 272:10769-10776(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH CSPG4.
  15. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
    Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
    J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-140; ASN-785; ASN-897 AND ASN-954.
    Tissue: Liver.
  16. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-701; THR-703 AND SER-705, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  17. "Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures."
    Joebsis G.J., Keizers H., Vreijling J.P., de Visser M., Speer M.C., Wolterman R.A., Baas F., Bohlhuis P.A.
    Nat. Genet. 14:113-115(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BM SER-271.
  18. "Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype."
    Scacheri P.C., Gillanders E.M., Subramony S.H., Vedanarayanan V., Crowe C.A., Thakore N., Bingler M., Hoffman E.P.
    Neurology 58:593-602(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BM ASN-621.
  19. "Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy."
    Baker N.L., Moergelin M., Peat R., Goemans N., North K.N., Bateman J.F., Lamande S.R.
    Hum. Mol. Genet. 14:279-293(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS UCMD PRO-837 AND ASN-897 DEL, CHARACTERIZATION OF VARIANTS UCMD PRO-837 AND ASN-897 DEL, VARIANTS ASN-227; ASN-399 AND HIS-680.
  20. "Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy."
    Lampe A.K., Dunn D.M., von Niederhausern A.C., Hamil C., Aoyagi A., Laval S.H., Marie S.K., Chu M.-L., Swoboda K., Muntoni F., Bonnemann C.G., Flanigan K.M., Bushby K.M.D., Weiss R.B.
    J. Med. Genet. 42:108-120(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS BM LYS-106; SER-700; ARG-777 AND GLN-853, VARIANTS UCMD ARG-283; HIS-498; ARG-531; ARG-777; HIS-784 AND SER-876, VARIANTS ASN-227; ASN-399; GLN-489; SER-518; HIS-680; CYS-724; GLY-804 AND ARG-935.
  21. Cited for: VARIANT BM LEU-932, VARIANTS ASN-227; ASN-399; HIS-680 AND ARG-895.
  22. Cited for: INVOLVEMENT IN MYOSCLEROSIS.

Entry informationi

Entry nameiCO6A2_HUMAN
AccessioniPrimary (citable) accession number: P12110
Secondary accession number(s): Q13909
, Q13910, Q13911, Q14048, Q14049, Q16259, Q16597, Q6P0Q1, Q9UML3, Q9Y4S8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: February 6, 2007
Last modified: October 29, 2014
This is version 172 of the entry and version 4 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 21
    Human chromosome 21: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3