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P12109

- CO6A1_HUMAN

UniProt

P12109 - CO6A1_HUMAN

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
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    • History
      Entry version 158 (01 Oct 2014)
      Sequence version 3 (06 Feb 2007)
      Previous versions | rss
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    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

    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

    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

    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.
    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.
    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

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    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

    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:
    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

    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: October 1, 2014
    This is version 158 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