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Protein

Collagen alpha-1(VIII) chain

Gene

COL8A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

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.

GO - Biological processi

Keywordsi

Biological processAngiogenesis, Cell adhesion

Enzyme and pathway databases

ReactomeiR-HSA-1442490. Collagen degradation.
R-HSA-1650814. Collagen biosynthesis and modifying enzymes.
R-HSA-2022090. Assembly of collagen fibrils and other multimeric structures.
R-HSA-216083. Integrin cell surface interactions.
R-HSA-8948216. Collagen chain trimerization.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:2215. COL8A1.

Subcellular locationi

GO - Cellular componenti

  • collagen type VIII trimer Source: ProtInc
  • endoplasmic reticulum lumen Source: Reactome
  • extracellular exosome Source: UniProtKB
  • extracellular matrix Source: BHF-UCL
  • extracellular region Source: Reactome

Keywords - Cellular componenti

Basement membrane, Extracellular matrix, Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi1295.
OpenTargetsiENSG00000144810.
PharmGKBiPA26731.

Polymorphism and mutation databases

BioMutaiCOL8A1.
DMDMi21903375.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 27Sequence analysisAdd BLAST27
ChainiPRO_000000576228 – 744Collagen alpha-1(VIII) chainAdd BLAST717
ChainiPRO_0000390484572 – 744VastatinAdd BLAST173

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

EPDiP27658.
PaxDbiP27658.
PeptideAtlasiP27658.
PRIDEiP27658.

PTM databases

iPTMnetiP27658.
PhosphoSitePlusiP27658.

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

BgeeiENSG00000144810.
CleanExiHS_COL8A1.
ExpressionAtlasiP27658. baseline and differential.
GenevisibleiP27658. HS.

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

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi107692. 19 interactors.
IntActiP27658. 60 interactors.
MINTiMINT-2857732.
STRINGi9606.ENSP00000261037.

Structurei

3D structure databases

ProteinModelPortaliP27658.
SMRiP27658.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini611 – 744C1qPROSITE-ProRule annotationAdd BLAST134

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni29 – 117Nonhelical region (NC2)Add BLAST89
Regioni118 – 571Triple-helical region (COL1)Add BLAST454
Regioni572 – 744Nonhelical region (NC1)Add BLAST173

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IE8J. Eukaryota.
ENOG410Y928. LUCA.
GeneTreeiENSGT00760000118830.
HOGENOMiHOG000085653.
HOVERGENiHBG108220.
InParanoidiP27658.
OMAiTCEVPGV.
OrthoDBiEOG091G0L3Y.
PhylomeDBiP27658.
TreeFamiTF334029.

Family and domain databases

Gene3Di2.60.120.40. 1 hit.
InterProiView protein in InterPro
IPR001073. C1q_dom.
IPR008160. Collagen.
IPR008983. Tumour_necrosis_fac-like_dom.
PfamiView protein in Pfam
PF00386. C1q. 1 hit.
PF01391. Collagen. 2 hits.
PRINTSiPR00007. COMPLEMNTC1Q.
SMARTiView protein in SMART
SM00110. C1Q. 1 hit.
SUPFAMiSSF49842. SSF49842. 1 hit.
PROSITEiView protein in PROSITE
PS50871. C1Q. 1 hit.

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)DescriptionActionsGraphical viewLength
Sequence conflicti262P → L in CAA40748 (PubMed:2029894).Curated1
Sequence conflicti297P → R in CAA40748 (PubMed:2029894).Curated1
Sequence conflicti344P → A in CAA40748 (PubMed:2029894).Curated1
Sequence conflicti382A → S in CAA40748 (PubMed:2029894).Curated1
Sequence conflicti388P → S in CAA40748 (PubMed:2029894).Curated1
Sequence conflicti454L → F in CAA40748 (PubMed:2029894).Curated1
Sequence conflicti464A → H in CAA40748 (PubMed:2029894).Curated1
Sequence conflicti601Y → T in CAA40748 (PubMed:2029894).Curated1
Sequence conflicti631A → G in CAA40748 (PubMed:2029894).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.3. human.

Similar proteinsi

Entry informationi

Entry nameiCO8A1_HUMAN
AccessioniPrimary (citable) accession number: P27658
Secondary accession number(s): D3DN42, Q53XI6, Q96D07
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1992
Last sequence update: July 11, 2002
Last modified: August 30, 2017
This is version 168 of the entry and version 2 of the sequence. See 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, 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