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P12109

- CO6A1_HUMAN

UniProt

P12109 - CO6A1_HUMAN

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Protein

Collagen alpha-1(VI) chain

Gene
COL6A1
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 - Molecular functioni

  1. platelet-derived growth factor binding Source: MGI

GO - Biological processi

  1. axon guidance Source: Reactome
  2. cell adhesion Source: UniProtKB-KW
  3. cellular response to amino acid stimulus Source: Ensembl
  4. collagen catabolic process Source: Reactome
  5. extracellular matrix disassembly Source: Reactome
  6. extracellular matrix organization Source: Reactome
  7. osteoblast differentiation Source: UniProt
  8. protein heterotrimerization Source: MGI
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-1(VI) chain
Gene namesi
Name:COL6A1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 21

Organism-specific databases

HGNCiHGNC:2211. COL6A1.

Subcellular locationi

GO - Cellular componenti

  1. collagen type VI trimer Source: UniProtKB
  2. endoplasmic reticulum lumen Source: Reactome
  3. extracellular region Source: MGI
  4. extracellular vesicular exosome Source: UniProt
  5. lysosomal membrane Source: UniProtKB
  6. membrane Source: UniProt
  7. proteinaceous extracellular matrix Source: UniProtKB-SubCell
  8. protein complex Source: MGI
  9. sarcolemma Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.4 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti116 – 1161S → N in BM. 2 Publications
Corresponds to variant rs11553519 [ dbSNP | Ensembl ].
VAR_058213
Natural varianti121 – 1211K → R in BM. 1 Publication
VAR_013580
Natural varianti272 – 2721G → D in BM. 1 Publication
VAR_058214
Natural varianti274 – 2741P → L in BM. 1 Publication
VAR_058215
Natural varianti275 – 2751G → R in BM. 1 Publication
VAR_058216
Natural varianti290 – 2901G → R in BM and UCMD. 3 Publications
VAR_058219
Natural varianti305 – 3051G → V in BM. 1 Publication
VAR_013581
Natural varianti341 – 3411G → D in BM. 1 Publication
VAR_013582
Natural varianti341 – 3411G → V in BM. 2 Publications
VAR_058221
Natural varianti571 – 5711K → T in BM. 1 Publication
VAR_058222
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti281 – 2811G → R in UCMD. 1 Publication
VAR_058217
Natural varianti284 – 2841G → R in UCMD; fibroblasts with the mutation assembled and secreted normal collagen VI microfibrils; cell adhesion of heterozygous Arg-284 fibroblasts is markedly decreased but can be rescued by the addition of normal collagen VI. 3 Publications
VAR_058218
Natural varianti290 – 2901G → R in BM and UCMD. 3 Publications
VAR_058219

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi158810. phenotype.
254090. phenotype.
Orphaneti610. Bethlem myopathy.
75840. Congenital muscular dystrophy, Ullrich type.
PharmGKBiPA26727.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1919Add
BLAST
Chaini20 – 10281009Collagen alpha-1(VI) chainPRO_0000005758Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi212 – 2121N-linked (GlcNAc...)1 Publication
Glycosylationi516 – 5161N-linked (GlcNAc...)1 Publication
Glycosylationi537 – 5371N-linked (GlcNAc...) Reviewed prediction
Glycosylationi804 – 8041N-linked (GlcNAc...)1 Publication
Glycosylationi896 – 8961N-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

Proteomic databases

MaxQBiP12109.
PaxDbiP12109.
PeptideAtlasiP12109.
PRIDEiP12109.

2D gel databases

REPRODUCTION-2DPAGEIPI00291136.
P12109.

PTM databases

PhosphoSiteiP12109.

Miscellaneous databases

PMAP-CutDBP12109.

Expressioni

Gene expression databases

ArrayExpressiP12109.
BgeeiP12109.
CleanExiHS_COL6A1.
GenevestigatoriP12109.

Organism-specific databases

HPAiHPA019142.
HPA029401.

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

BioGridi107688. 9 interactions.
IntActiP12109. 5 interactions.
STRINGi9606.ENSP00000355180.

Structurei

3D structure databases

ProteinModelPortaliP12109.
SMRiP12109. Positions 32-207, 612-1009.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini37 – 235199VWFA 1Add
BLAST
Domaini615 – 805191VWFA 2Add
BLAST
Domaini829 – 1021193VWFA 3Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni20 – 256237N-terminal globular domainAdd
BLAST
Regioni257 – 592336Triple-helical regionAdd
BLAST
Regioni593 – 1028436C-terminal globular domainAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi262 – 2643Cell attachment site
Motifi442 – 4443Cell attachment site
Motifi478 – 4803Cell attachment site

Sequence similaritiesi

Belongs to the type VI collagen family.
Contains 3 VWFA domains.

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

eggNOGiNOG256042.
HOVERGENiHBG095954.
InParanoidiP12109.
KOiK06238.
OMAiVKENYAE.
OrthoDBiEOG71K628.
PhylomeDBiP12109.
TreeFamiTF331207.

Family and domain databases

Gene3Di3.40.50.410. 3 hits.
InterProiIPR008160. Collagen.
IPR002035. VWF_A.
[Graphical view]
PfamiPF01391. Collagen. 6 hits.
PF00092. VWA. 3 hits.
[Graphical view]
SMARTiSM00327. VWA. 3 hits.
[Graphical view]
SUPFAMiSSF53300. SSF53300. 3 hits.
PROSITEiPS50234. VWFA. 3 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

P12109-1 [UniParc]FASTAAdd to Basket

« Hide

MRAARALLPL LLQACWTAAQ DEPETPRAVA FQDCPVDLFF VLDTSESVAL     50
RLKPYGALVD KVKSFTKRFI DNLRDRYYRC DRNLVWNAGA LHYSDEVEII 100
QGLTRMPGGR DALKSSVDAV KYFGKGTYTD CAIKKGLEQL LVGGSHLKEN 150
KYLIVVTDGH PLEGYKEPCG GLEDAVNEAK HLGVKVFSVA ITPDHLEPRL 200
SIIATDHTYR RNFTAADWGQ SRDAEEAISQ TIDTIVDMIK NNVEQVCCSF 250
ECQPARGPPG LRGDPGFEGE RGKPGLPGEK GEAGDPGRPG DLGPVGYQGM 300
KGEKGSRGEK GSRGPKGYKG EKGKRGIDGV DGVKGEMGYP GLPGCKGSPG 350
FDGIQGPPGP KGDPGAFGLK GEKGEPGADG EAGRPGSSGP SGDEGQPGEP 400
GPPGEKGEAG DEGNPGPDGA PGERGGPGER GPRGTPGTRG PRGDPGEAGP 450
QGDQGREGPV GVPGDPGEAG PIGPKGYRGD EGPPGSEGAR GAPGPAGPPG 500
DPGLMGERGE DGPAGNGTEG FPGFPGYPGN RGAPGINGTK GYPGLKGDEG 550
EAGDPGDDNN DIAPRGVKGA KGYRGPEGPQ GPPGHQGPPG PDECEILDII 600
MKMCSCCECK CGPIDLLFVL DSSESIGLQN FEIAKDFVVK VIDRLSRDEL 650
VKFEPGQSYA GVVQYSHSQM QEHVSLRSPS IRNVQELKEA IKSLQWMAGG 700
TFTGEALQYT RDQLLPPSPN NRIALVITDG RSDTQRDTTP LNVLCSPGIQ 750
VVSVGIKDVF DFIPGSDQLN VISCQGLAPS QGRPGLSLVK ENYAELLEDA 800
FLKNVTAQIC IDKKCPDYTC PITFSSPADI TILLDGSASV GSHNFDTTKR 850
FAKRLAERFL TAGRTDPAHD VRVAVVQYSG TGQQRPERAS LQFLQNYTAL 900
ASAVDAMDFI NDATDVNDAL GYVTRFYREA SSGAAKKRLL LFSDGNSQGA 950
TPAAIEKAVQ EAQRAGIEIF VVVVGRQVNE PHIRVLVTGK TAEYDVAYGE 1000
SHLFRVPSYQ ALLRGVFHQT VSRKVALG 1028
Length:1,028
Mass (Da):108,529
Last modified:February 6, 2007 - v3
Checksum:i04AFF538002A01CD
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti116 – 1161S → N in BM. 2 Publications
Corresponds to variant rs11553519 [ dbSNP | Ensembl ].
VAR_058213
Natural varianti121 – 1211K → R in BM. 1 Publication
VAR_013580
Natural varianti272 – 2721G → D in BM. 1 Publication
VAR_058214
Natural varianti274 – 2741P → L in BM. 1 Publication
VAR_058215
Natural varianti275 – 2751G → R in BM. 1 Publication
VAR_058216
Natural varianti281 – 2811G → R in UCMD. 1 Publication
VAR_058217
Natural varianti284 – 2841G → R in UCMD; fibroblasts with the mutation assembled and secreted normal collagen VI microfibrils; cell adhesion of heterozygous Arg-284 fibroblasts is markedly decreased but can be rescued by the addition of normal collagen VI. 3 Publications
VAR_058218
Natural varianti290 – 2901G → R in BM and UCMD. 3 Publications
VAR_058219
Natural varianti305 – 3051G → V in BM. 1 Publication
VAR_013581
Natural varianti332 – 3321G → S.
Corresponds to variant rs11701912 [ dbSNP | Ensembl ].
VAR_058220
Natural varianti341 – 3411G → D in BM. 1 Publication
VAR_013582
Natural varianti341 – 3411G → V in BM. 2 Publications
VAR_058221
Natural varianti439 – 4391R → Q.
Corresponds to variant rs35059000 [ dbSNP | Ensembl ].
VAR_048763
Natural varianti571 – 5711K → T in BM. 1 Publication
VAR_058222
Natural varianti850 – 8501R → H.1 Publication
Corresponds to variant rs1053312 [ dbSNP | Ensembl ].
VAR_048764
Natural varianti881 – 8811T → M.1 Publication
Corresponds to variant rs150432347 [ dbSNP | Ensembl ].
VAR_058223
Natural varianti890 – 8901S → L.2 Publications
Corresponds to variant rs13051496 [ dbSNP | Ensembl ].
VAR_058224

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti387 – 3882SS → AR in M20776. 1 Publication
Sequence conflicti387 – 3882SS → AR in AAB20835. 1 Publication
Sequence conflicti396 – 3972QP → PA in M20776. 1 Publication
Sequence conflicti396 – 3972QP → PA in AAB20835. 1 Publication
Sequence conflicti438 – 4381T → P in M20776. 1 Publication
Sequence conflicti835 – 8395DGSAS → EPPPD in CAA33889. 1 Publication
Sequence conflicti997 – 9971A → P in CAA67576. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X15879 mRNA. Translation: CAA33888.1.
X15880 mRNA. Translation: CAA33889.1.
BC005159 mRNA. Translation: AAH05159.2.
BC052575 mRNA. Translation: AAH52575.1.
X99109 Genomic DNA. Translation: CAA67559.1.
X99135, X99136 Genomic DNA. Translation: CAA67576.1.
M20776 mRNA. No translation available.
S75420
, S75385, S75388, S75390, S75392, S75394, S75396, S75398, S75400, S75402, S75404, S75406, S75408, S75410, S75412, S75414, S75416, S75418 Genomic DNA. Translation: AAB20835.2.
X06194 mRNA. Translation: CAA29555.1.
M27447 mRNA. Translation: AAA52055.1.
CCDSiCCDS13727.1.
PIRiS05377. CGHU1A.
RefSeqiNP_001839.2. NM_001848.2.
UniGeneiHs.474053.

Genome annotation databases

EnsembliENST00000361866; ENSP00000355180; ENSG00000142156.
GeneIDi1291.
KEGGihsa:1291.
UCSCiuc002zhu.1. human.

Polymorphism databases

DMDMi125987811.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X15879 mRNA. Translation: CAA33888.1 .
X15880 mRNA. Translation: CAA33889.1 .
BC005159 mRNA. Translation: AAH05159.2 .
BC052575 mRNA. Translation: AAH52575.1 .
X99109 Genomic DNA. Translation: CAA67559.1 .
X99135 , X99136 Genomic DNA. Translation: CAA67576.1 .
M20776 mRNA. No translation available.
S75420
, S75385 , S75388 , S75390 , S75392 , S75394 , S75396 , S75398 , S75400 , S75402 , S75404 , S75406 , S75408 , S75410 , S75412 , S75414 , S75416 , S75418 Genomic DNA. Translation: AAB20835.2 .
X06194 mRNA. Translation: CAA29555.1 .
M27447 mRNA. Translation: AAA52055.1 .
CCDSi CCDS13727.1.
PIRi S05377. CGHU1A.
RefSeqi NP_001839.2. NM_001848.2.
UniGenei Hs.474053.

3D structure databases

ProteinModelPortali P12109.
SMRi P12109. Positions 32-207, 612-1009.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107688. 9 interactions.
IntActi P12109. 5 interactions.
STRINGi 9606.ENSP00000355180.

Chemistry

ChEMBLi CHEMBL2364188.
DrugBanki DB00039. Palifermin.

PTM databases

PhosphoSitei P12109.

Polymorphism databases

DMDMi 125987811.

2D gel databases

REPRODUCTION-2DPAGE IPI00291136.
P12109.

Proteomic databases

MaxQBi P12109.
PaxDbi P12109.
PeptideAtlasi P12109.
PRIDEi P12109.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000361866 ; ENSP00000355180 ; ENSG00000142156 .
GeneIDi 1291.
KEGGi hsa:1291.
UCSCi uc002zhu.1. human.

Organism-specific databases

CTDi 1291.
GeneCardsi GC21P047401.
GeneReviewsi COL6A1.
HGNCi HGNC:2211. COL6A1.
HPAi HPA019142.
HPA029401.
MIMi 120220. gene.
158810. phenotype.
254090. phenotype.
neXtProti NX_P12109.
Orphaneti 610. Bethlem myopathy.
75840. Congenital muscular dystrophy, Ullrich type.
PharmGKBi PA26727.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG256042.
HOVERGENi HBG095954.
InParanoidi P12109.
KOi K06238.
OMAi VKENYAE.
OrthoDBi EOG71K628.
PhylomeDBi P12109.
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 COL6A1. human.
GeneWikii Collagen,_type_VI,_alpha_1.
GenomeRNAii 1291.
NextBioi 5227.
PMAP-CutDB P12109.
PROi P12109.
SOURCEi Search...

Gene expression databases

ArrayExpressi P12109.
Bgeei P12109.
CleanExi HS_COL6A1.
Genevestigatori P12109.

Family and domain databases

Gene3Di 3.40.50.410. 3 hits.
InterProi IPR008160. Collagen.
IPR002035. VWF_A.
[Graphical view ]
Pfami PF01391. Collagen. 6 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. "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], PARTIAL PROTEIN SEQUENCE.
    Tissue: Fibroblast.
  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].
    Tissue: Kidney and Ovary.
  3. "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: NUCLEOTIDE SEQUENCE [MRNA] OF 1-380 AND 383-1028.
  4. "Human COL6A1: genomic characterization of the globular domains, structural and evolutionary comparison with COL6A2."
    Trikka D., Davis T., Lapenta V., Brahe C., Kessling A.M.
    Mamm. Genome 8:342-345(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 144-268 AND 593-1028.
  5. "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 246-258.
  6. "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 257-592.
  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 287-592.
  8. "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 422-482.
  9. "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 422-481.
    Tissue: Placenta.
  10. Lubec G., Chen W.-Q., Sun Y.
    Submitted (DEC-2008) to UniProtKB
    Cited for: PROTEIN SEQUENCE OF 693-711; 737-757; 939-957 AND 991-1005, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: Fetal brain cortex.
  11. "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-212; ASN-516; ASN-804 AND ASN-896.
    Tissue: Liver.
  12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  13. "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 VAL-305.
  14. "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: VARIANTS BM ARG-121 AND ASP-341.
  15. Cited for: VARIANTS UCMD ARG-284 AND ARG-290, VARIANTS ASN-116 AND LEU-890.
  16. "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 ASN-116; LEU-274; ARG-290; VAL-341 AND THR-571, VARIANTS UCMD ARG-281 AND ARG-284, VARIANTS HIS-850; MET-881 AND LEU-890.
  17. Cited for: VARIANTS BM ASP-272; ARG-275; ARG-290 AND VAL-341.
  18. "Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease."
    Kawahara G., Okada M., Morone N., Ibarra C.A., Nonaka I., Noguchi S., Hayashi Y.K., Nishino I.
    Neurology 69:1043-1049(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANT UCMD ARG-284.

Entry informationi

Entry nameiCO6A1_HUMAN
AccessioniPrimary (citable) accession number: P12109
Secondary accession number(s): O00117
, O00118, Q14040, Q14041, Q16258, Q7Z645, Q9BSA8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: February 6, 2007
Last modified: September 3, 2014
This is version 157 of the entry and version 3 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

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