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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. endodermal cell differentiation Source: UniProtKB
  6. extracellular matrix disassembly Source: Reactome
  7. extracellular matrix organization Source: Reactome
  8. osteoblast differentiation Source: UniProt
  9. 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 matrix Source: UniProtKB
  4. extracellular region Source: MGI
  5. extracellular vesicular exosome Source: UniProtKB
  6. lysosomal membrane Source: UniProtKB
  7. membrane Source: UniProt
  8. proteinaceous extracellular matrix Source: UniProtKB-KW
  9. protein complex Source: MGI
  10. 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.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
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. 2 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...)Sequence Analysis
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

BgeeiP12109.
CleanExiHS_COL6A1.
ExpressionAtlasiP12109. baseline and differential.
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. 14 interactions.
IntActiP12109. 5 interactions.
STRINGi9606.ENSP00000355180.

Structurei

3D structure databases

ProteinModelPortaliP12109.
SMRiP12109. Positions 615-1009.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini37 – 235199VWFA 1PROSITE-ProRule annotationAdd
BLAST
Domaini615 – 805191VWFA 2PROSITE-ProRule annotationAdd
BLAST
Domaini829 – 1021193VWFA 3PROSITE-ProRule annotationAdd
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.Curated
Contains 3 VWFA domains.PROSITE-ProRule annotation

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

eggNOGiNOG256042.
GeneTreeiENSGT00760000119051.
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

        10         20         30         40         50
MRAARALLPL LLQACWTAAQ DEPETPRAVA FQDCPVDLFF VLDTSESVAL
60 70 80 90 100
RLKPYGALVD KVKSFTKRFI DNLRDRYYRC DRNLVWNAGA LHYSDEVEII
110 120 130 140 150
QGLTRMPGGR DALKSSVDAV KYFGKGTYTD CAIKKGLEQL LVGGSHLKEN
160 170 180 190 200
KYLIVVTDGH PLEGYKEPCG GLEDAVNEAK HLGVKVFSVA ITPDHLEPRL
210 220 230 240 250
SIIATDHTYR RNFTAADWGQ SRDAEEAISQ TIDTIVDMIK NNVEQVCCSF
260 270 280 290 300
ECQPARGPPG LRGDPGFEGE RGKPGLPGEK GEAGDPGRPG DLGPVGYQGM
310 320 330 340 350
KGEKGSRGEK GSRGPKGYKG EKGKRGIDGV DGVKGEMGYP GLPGCKGSPG
360 370 380 390 400
FDGIQGPPGP KGDPGAFGLK GEKGEPGADG EAGRPGSSGP SGDEGQPGEP
410 420 430 440 450
GPPGEKGEAG DEGNPGPDGA PGERGGPGER GPRGTPGTRG PRGDPGEAGP
460 470 480 490 500
QGDQGREGPV GVPGDPGEAG PIGPKGYRGD EGPPGSEGAR GAPGPAGPPG
510 520 530 540 550
DPGLMGERGE DGPAGNGTEG FPGFPGYPGN RGAPGINGTK GYPGLKGDEG
560 570 580 590 600
EAGDPGDDNN DIAPRGVKGA KGYRGPEGPQ GPPGHQGPPG PDECEILDII
610 620 630 640 650
MKMCSCCECK CGPIDLLFVL DSSESIGLQN FEIAKDFVVK VIDRLSRDEL
660 670 680 690 700
VKFEPGQSYA GVVQYSHSQM QEHVSLRSPS IRNVQELKEA IKSLQWMAGG
710 720 730 740 750
TFTGEALQYT RDQLLPPSPN NRIALVITDG RSDTQRDTTP LNVLCSPGIQ
760 770 780 790 800
VVSVGIKDVF DFIPGSDQLN VISCQGLAPS QGRPGLSLVK ENYAELLEDA
810 820 830 840 850
FLKNVTAQIC IDKKCPDYTC PITFSSPADI TILLDGSASV GSHNFDTTKR
860 870 880 890 900
FAKRLAERFL TAGRTDPAHD VRVAVVQYSG TGQQRPERAS LQFLQNYTAL
910 920 930 940 950
ASAVDAMDFI NDATDVNDAL GYVTRFYREA SSGAAKKRLL LFSDGNSQGA
960 970 980 990 1000
TPAAIEKAVQ EAQRAGIEIF VVVVGRQVNE PHIRVLVTGK TAEYDVAYGE
1010 1020
SHLFRVPSYQ ALLRGVFHQT VSRKVALG
Length:1,028
Mass (Da):108,529
Last modified:February 6, 2007 - v3
Checksum:i04AFF538002A01CD
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti387 – 3882SS → AR in M20776. (PubMed:3198591)Curated
Sequence conflicti387 – 3882SS → AR in AAB20835. (PubMed:1765372)Curated
Sequence conflicti396 – 3972QP → PA in M20776. (PubMed:3198591)Curated
Sequence conflicti396 – 3972QP → PA in AAB20835. (PubMed:1765372)Curated
Sequence conflicti438 – 4381T → P in M20776. (PubMed:3198591)Curated
Sequence conflicti835 – 8395DGSAS → EPPPD in CAA33889. (PubMed:2551668)Curated
Sequence conflicti997 – 9971A → P in CAA67576. (PubMed:9107679)Curated

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. 2 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 databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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 615-1009.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107688. 14 interactions.
IntActi P12109. 5 interactions.
STRINGi 9606.ENSP00000355180.

Chemistry

ChEMBLi CHEMBL2364188.

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.
GeneTreei ENSGT00760000119051.
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

Bgeei P12109.
CleanExi HS_COL6A1.
ExpressionAtlasi P12109. baseline and differential.
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: November 26, 2014
This is version 160 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