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P27658

- CO8A1_HUMAN

UniProt

P27658 - CO8A1_HUMAN

Protein

Collagen alpha-1(VIII) chain

Gene

COL8A1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 145 (01 Oct 2014)
      Sequence version 2 (11 Jul 2002)
      Previous versions | rss
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    Functioni

    Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also component of the endothelia of blood vessels. Necessary for migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall integrity and structure, in particular in atherogenesis.1 Publication
    Vastatin, the C-terminal fragment comprising the NC1 domain, inhibits aortic endothelial cell proliferation and causes cell apoptosis.1 Publication

    GO - Biological processi

    1. angiogenesis Source: UniProtKB-KW
    2. camera-type eye morphogenesis Source: Ensembl
    3. cell adhesion Source: UniProtKB-KW
    4. collagen catabolic process Source: Reactome
    5. epithelial cell proliferation Source: Ensembl
    6. extracellular matrix disassembly Source: Reactome
    7. extracellular matrix organization Source: Reactome
    8. positive regulation of cell-substrate adhesion Source: Ensembl

    Keywords - Biological processi

    Angiogenesis, 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.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Collagen alpha-1(VIII) chain
    Alternative name(s):
    Endothelial collagen
    Cleaved into the following chain:
    Gene namesi
    Name:COL8A1
    Synonyms:C3orf7
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:2215. COL8A1.

    Subcellular locationi

    GO - Cellular componenti

    1. collagen type VIII trimer Source: ProtInc
    2. endoplasmic reticulum lumen Source: Reactome
    3. extracellular region Source: Reactome
    4. extracellular vesicular exosome Source: UniProt
    5. intracellular membrane-bounded organelle Source: HPA

    Keywords - Cellular componenti

    Basement membrane, Extracellular matrix, Secreted

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA26731.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2727Sequence AnalysisAdd
    BLAST
    Chaini28 – 744717Collagen alpha-1(VIII) chainPRO_0000005762Add
    BLAST
    Chaini572 – 744173VastatinPRO_0000390484Add
    BLAST

    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.
    Proteolytically cleaved by neutrophil elastase, in vitro. Proteolytic processing produces the C-terminal NC1 domain fragment, vastatin.1 Publication

    Keywords - PTMi

    Hydroxylation

    Proteomic databases

    PaxDbiP27658.
    PRIDEiP27658.

    PTM databases

    PhosphoSiteiP27658.

    Expressioni

    Tissue specificityi

    Expressed primarily in the subendothelium of large blood vessels. Also expressed in arterioles and venules in muscle, heart, kidney, spleen, umbilical cord, liver and lung and is also found in connective tissue layers around hair follicles, around nerve bundles in muscle, in the dura of the optic nerve, in cornea and sclera, and in the perichondrium of cartilaginous tissues. In the kidney, expressed in mesangial cells, glomerular endothelial cells, and tubular epithelial cells. Also expressed in mast cells, and in astrocytes during the repair process. Expressed in Descemet's membrane. Specifically expressed in peritoneal fibroblasts and mesothelial cells.3 Publications

    Inductioni

    Up-regulated during vascular injury, in atherosclerosis and in diabetes.1 Publication

    Gene expression databases

    ArrayExpressiP27658.
    BgeeiP27658.
    CleanExiHS_COL8A1.
    GenevestigatoriP27658.

    Organism-specific databases

    HPAiHPA053107.

    Interactioni

    Subunit structurei

    Homotrimers, or heterotrimers in association with alpha 2(VIII) type collagens. Four homotrimers can form a tetrhedron stabilized by central interacting C-terminal NC1 trimers.1 Publication

    Protein-protein interaction databases

    BioGridi107692. 6 interactions.
    IntActiP27658. 5 interactions.
    MINTiMINT-2857732.
    STRINGi9606.ENSP00000261037.

    Structurei

    3D structure databases

    ProteinModelPortaliP27658.
    SMRiP27658. Positions 614-744.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini611 – 744134C1qPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni29 – 11789Nonhelical region (NC2)Add
    BLAST
    Regioni118 – 571454Triple-helical region (COL1)Add
    BLAST
    Regioni572 – 744173Nonhelical region (NC1)Add
    BLAST

    Sequence similaritiesi

    Contains 1 C1q domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Collagen, Repeat, Signal

    Phylogenomic databases

    eggNOGiNOG114228.
    HOGENOMiHOG000085653.
    HOVERGENiHBG108220.
    InParanoidiP27658.
    OMAiTCEVPGV.
    OrthoDBiEOG70ZZPW.
    PhylomeDBiP27658.
    TreeFamiTF334029.

    Family and domain databases

    Gene3Di2.60.120.40. 1 hit.
    InterProiIPR001073. C1q.
    IPR008160. Collagen.
    IPR008983. Tumour_necrosis_fac-like_dom.
    [Graphical view]
    PfamiPF00386. C1q. 1 hit.
    PF01391. Collagen. 4 hits.
    [Graphical view]
    PRINTSiPR00007. COMPLEMNTC1Q.
    SMARTiSM00110. C1Q. 1 hit.
    [Graphical view]
    SUPFAMiSSF49842. SSF49842. 1 hit.
    PROSITEiPS50871. C1Q. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    P27658-1 [UniParc]FASTAAdd to Basket

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    MAVLPGPLQL LGVLLTISLS SIRLIQAGAY YGIKPLPPQI PPQMPPQIPQ    50
    YQPLGQQVPH MPLAKDGLAM GKEMPHLQYG KEYPHLPQYM KEIQPAPRMG 100
    KEAVPKKGKE IPLASLRGEQ GPRGEPGPRG PPGPPGLPGH GIPGIKGKPG 150
    PQGYPGVGKP GMPGMPGKPG AMGMPGAKGE IGQKGEIGPM GIPGPQGPPG 200
    PHGLPGIGKP GGPGLPGQPG PKGDRGPKGL PGPQGLRGPK GDKGFGMPGA 250
    PGVKGPPGMH GPPGPVGLPG VGKPGVTGFP GPQGPLGKPG APGEPGPQGP 300
    IGVPGVQGPP GIPGIGKPGQ DGIPGQPGFP GGKGEQGLPG LPGPPGLPGI 350
    GKPGFPGPKG DRGMGGVPGA LGPRGEKGPI GAPGIGGPPG EPGLPGIPGP 400
    MGPPGAIGFP GPKGEGGIVG PQGPPGPKGE PGLQGFPGKP GFLGEVGPPG 450
    MRGLPGPIGP KGEAGQKGVP GLPGVPGLLG PKGEPGIPGD QGLQGPPGIP 500
    GIGGPSGPIG PPGIPGPKGE PGLPGPPGFP GIGKPGVAGL HGPPGKPGAL 550
    GPQGQPGLPG PPGPPGPPGP PAVMPPTPPP QGEYLPDMGL GIDGVKPPHA 600
    YGAKKGKNGG PAYEMPAFTA ELTAPFPPVG APVKFNKLLY NGRQNYNPQT 650
    GIFTCEVPGV YYFAYHVHCK GGNVWVALFK NNEPVMYTYD EYKKGFLDQA 700
    SGSAVLLLRP GDRVFLQMPS EQAAGLYAGQ YVHSSFSGYL LYPM 744
    Length:744
    Mass (Da):73,364
    Last modified:July 11, 2002 - v2
    Checksum:i2BC1B0955DE2C9A3
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti262 – 2621P → L in CAA40748. (PubMed:2029894)Curated
    Sequence conflicti297 – 2971P → R in CAA40748. (PubMed:2029894)Curated
    Sequence conflicti344 – 3441P → A in CAA40748. (PubMed:2029894)Curated
    Sequence conflicti382 – 3821A → S in CAA40748. (PubMed:2029894)Curated
    Sequence conflicti388 – 3881P → S in CAA40748. (PubMed:2029894)Curated
    Sequence conflicti454 – 4541L → F in CAA40748. (PubMed:2029894)Curated
    Sequence conflicti464 – 4641A → H in CAA40748. (PubMed:2029894)Curated
    Sequence conflicti601 – 6011Y → T in CAA40748. (PubMed:2029894)Curated
    Sequence conflicti631 – 6311A → G in CAA40748. (PubMed:2029894)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X57527 mRNA. Translation: CAA40748.1.
    BT009917 mRNA. Translation: AAP88919.1.
    CH471052 Genomic DNA. Translation: EAW79837.1.
    CH471052 Genomic DNA. Translation: EAW79838.1.
    CH471052 Genomic DNA. Translation: EAW79840.1.
    BC013581 mRNA. Translation: AAH13581.1.
    CCDSiCCDS2934.1.
    PIRiS15435.
    RefSeqiNP_001841.2. NM_001850.4.
    NP_065084.2. NM_020351.3.
    UniGeneiHs.654548.
    Hs.740613.
    Hs.740617.

    Genome annotation databases

    EnsembliENST00000261037; ENSP00000261037; ENSG00000144810.
    ENST00000273342; ENSP00000273342; ENSG00000144810.
    GeneIDi1295.
    KEGGihsa:1295.
    UCSCiuc003dtg.2. human.

    Polymorphism databases

    DMDMi21903375.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X57527 mRNA. Translation: CAA40748.1 .
    BT009917 mRNA. Translation: AAP88919.1 .
    CH471052 Genomic DNA. Translation: EAW79837.1 .
    CH471052 Genomic DNA. Translation: EAW79838.1 .
    CH471052 Genomic DNA. Translation: EAW79840.1 .
    BC013581 mRNA. Translation: AAH13581.1 .
    CCDSi CCDS2934.1.
    PIRi S15435.
    RefSeqi NP_001841.2. NM_001850.4.
    NP_065084.2. NM_020351.3.
    UniGenei Hs.654548.
    Hs.740613.
    Hs.740617.

    3D structure databases

    ProteinModelPortali P27658.
    SMRi P27658. Positions 614-744.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107692. 6 interactions.
    IntActi P27658. 5 interactions.
    MINTi MINT-2857732.
    STRINGi 9606.ENSP00000261037.

    PTM databases

    PhosphoSitei P27658.

    Polymorphism databases

    DMDMi 21903375.

    Proteomic databases

    PaxDbi P27658.
    PRIDEi P27658.

    Protocols and materials databases

    DNASUi 1295.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000261037 ; ENSP00000261037 ; ENSG00000144810 .
    ENST00000273342 ; ENSP00000273342 ; ENSG00000144810 .
    GeneIDi 1295.
    KEGGi hsa:1295.
    UCSCi uc003dtg.2. human.

    Organism-specific databases

    CTDi 1295.
    GeneCardsi GC03P099357.
    HGNCi HGNC:2215. COL8A1.
    HPAi HPA053107.
    MIMi 120251. gene.
    neXtProti NX_P27658.
    PharmGKBi PA26731.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG114228.
    HOGENOMi HOG000085653.
    HOVERGENi HBG108220.
    InParanoidi P27658.
    OMAi TCEVPGV.
    OrthoDBi EOG70ZZPW.
    PhylomeDBi P27658.
    TreeFami TF334029.

    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.

    Miscellaneous databases

    GeneWikii Collagen,_type_VIII,_alpha_1.
    GenomeRNAii 1295.
    NextBioi 5255.
    PROi P27658.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P27658.
    Bgeei P27658.
    CleanExi HS_COL8A1.
    Genevestigatori P27658.

    Family and domain databases

    Gene3Di 2.60.120.40. 1 hit.
    InterProi IPR001073. C1q.
    IPR008160. Collagen.
    IPR008983. Tumour_necrosis_fac-like_dom.
    [Graphical view ]
    Pfami PF00386. C1q. 1 hit.
    PF01391. Collagen. 4 hits.
    [Graphical view ]
    PRINTSi PR00007. COMPLEMNTC1Q.
    SMARTi SM00110. C1Q. 1 hit.
    [Graphical view ]
    SUPFAMi SSF49842. SSF49842. 1 hit.
    PROSITEi PS50871. C1Q. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The complete primary structure of the human alpha 1 (VIII) chain and assignment of its gene (COL8A1) to chromosome 3."
      Muragaki Y., Mattei M.-G., Yamaguchi N., Olsen B.R., Ninomiya Y.
      Eur. J. Biochem. 197:615-622(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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: Lung.
    5. "Distribution of type VIII collagen in tissues: an immunohistochemical study."
      Kittelberger R., Davis P.F., Flynn D.W., Greenhill N.S.
      Connect. Tissue Res. 24:303-318(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    6. Cited for: PROTEOLYTIC PROCESSING.
    7. "Human mast cells produce type VIII collagen in vivo."
      Ruger B., Dunbar P.R., Hasan Q., Sawada H., Kittelberger R., Greenhill N., Neale T.J.
      Int. J. Exp. Pathol. 75:397-404(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, POSSIBLE FUNCTION.
    8. "The alpha1(VIII) and alpha2(VIII) collagen chains form two distinct homotrimeric proteins in vivo."
      Greenhill N.S., Ruger B.M., Hasan Q., Davis P.F.
      Matrix Biol. 19:19-28(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    9. "NC1 domain of human type VIII collagen (alpha 1) inhibits bovine aortic endothelial cell proliferation and causes cell apoptosis."
      Xu R., Yao Z.-Y., Xin L., Zhang Q., Li T.-P., Gan R.-B.
      Biochem. Biophys. Res. Commun. 289:264-268(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION OF VASTATIN.
    10. "Expression and supramolecular assembly of recombinant alpha1(viii) and alpha2(viii) collagen homotrimers."
      Stephan S., Sherratt M.J., Hodson N., Shuttleworth C.A., Kielty C.M.
      J. Biol. Chem. 279:21469-21477(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBUNIT.
    11. Cited for: INDUCTION.

    Entry informationi

    Entry nameiCO8A1_HUMAN
    AccessioniPrimary (citable) accession number: P27658
    Secondary accession number(s): D3DN42, Q53XI6, Q96D07
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 1, 1992
    Last sequence update: July 11, 2002
    Last modified: October 1, 2014
    This is version 145 of the entry and version 2 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

    Miscellaneous

    Four consecutive Gly-Pro-Pro triplets are present at the C-terminus of the triple-helical region. These may provide the high thermal stability of this region.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3