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P27658

- CO8A1_HUMAN

UniProt

P27658 - CO8A1_HUMAN

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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

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. endodermal cell differentiation Source: UniProtKB
  6. epithelial cell proliferation Source: Ensembl
  7. extracellular matrix disassembly Source: Reactome
  8. extracellular matrix organization Source: Reactome
  9. positive regulation of cell-substrate adhesion Source: Ensembl
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiP27658.
CleanExiHS_COL8A1.
ExpressionAtlasiP27658. baseline and differential.
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.
GeneTreeiENSGT00760000118830.
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

« Hide

        10         20         30         40         50
MAVLPGPLQL LGVLLTISLS SIRLIQAGAY YGIKPLPPQI PPQMPPQIPQ
60 70 80 90 100
YQPLGQQVPH MPLAKDGLAM GKEMPHLQYG KEYPHLPQYM KEIQPAPRMG
110 120 130 140 150
KEAVPKKGKE IPLASLRGEQ GPRGEPGPRG PPGPPGLPGH GIPGIKGKPG
160 170 180 190 200
PQGYPGVGKP GMPGMPGKPG AMGMPGAKGE IGQKGEIGPM GIPGPQGPPG
210 220 230 240 250
PHGLPGIGKP GGPGLPGQPG PKGDRGPKGL PGPQGLRGPK GDKGFGMPGA
260 270 280 290 300
PGVKGPPGMH GPPGPVGLPG VGKPGVTGFP GPQGPLGKPG APGEPGPQGP
310 320 330 340 350
IGVPGVQGPP GIPGIGKPGQ DGIPGQPGFP GGKGEQGLPG LPGPPGLPGI
360 370 380 390 400
GKPGFPGPKG DRGMGGVPGA LGPRGEKGPI GAPGIGGPPG EPGLPGIPGP
410 420 430 440 450
MGPPGAIGFP GPKGEGGIVG PQGPPGPKGE PGLQGFPGKP GFLGEVGPPG
460 470 480 490 500
MRGLPGPIGP KGEAGQKGVP GLPGVPGLLG PKGEPGIPGD QGLQGPPGIP
510 520 530 540 550
GIGGPSGPIG PPGIPGPKGE PGLPGPPGFP GIGKPGVAGL HGPPGKPGAL
560 570 580 590 600
GPQGQPGLPG PPGPPGPPGP PAVMPPTPPP QGEYLPDMGL GIDGVKPPHA
610 620 630 640 650
YGAKKGKNGG PAYEMPAFTA ELTAPFPPVG APVKFNKLLY NGRQNYNPQT
660 670 680 690 700
GIFTCEVPGV YYFAYHVHCK GGNVWVALFK NNEPVMYTYD EYKKGFLDQA
710 720 730 740
SGSAVLLLRP GDRVFLQMPS EQAAGLYAGQ YVHSSFSGYL LYPM
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.
GeneTreei ENSGT00760000118830.
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

Bgeei P27658.
CleanExi HS_COL8A1.
ExpressionAtlasi P27658. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 146 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