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Protein

Collagen alpha-1(VIII) chain

Gene

COL8A1

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

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

EuPathDBiHostDB:ENSG00000144810.15
HGNCiHGNC:2215 COL8A1
MIMi120251 gene
neXtProtiNX_P27658

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
ProteomicsDBi54404

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 Expressed in 174 organ(s), highest expression level in pigmented layer of retina
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 tetrahedron stabilized by central interacting C-terminal NC1 trimers.1 Publication

Binary interactionsi

Protein-protein interaction databases

BioGridi107692, 19 interactors
ComplexPortaliCPX-1745 Collagen type VIII trimer variant 1
CPX-1746 Collagen type VIII trimer variant 2
IntActiP27658, 74 interactors
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
OMAiEKGPIGA
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

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WZI0A0A087WZI0_HUMAN
Collagen alpha-1(VIII) chain
COL8A1
202Annotation score:
C9JTN9C9JTN9_HUMAN
Collagen alpha-1(VIII) chain
COL8A1
113Annotation score:

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

Cross-referencesi

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

3D structure databases

ProteinModelPortaliP27658
SMRiP27658
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107692, 19 interactors
ComplexPortaliCPX-1745 Collagen type VIII trimer variant 1
CPX-1746 Collagen type VIII trimer variant 2
IntActiP27658, 74 interactors
STRINGi9606.ENSP00000261037

PTM databases

iPTMnetiP27658
PhosphoSitePlusiP27658

Polymorphism and mutation databases

BioMutaiCOL8A1
DMDMi21903375

Proteomic databases

EPDiP27658
PaxDbiP27658
PeptideAtlasiP27658
PRIDEiP27658
ProteomicsDBi54404

Protocols and materials databases

DNASUi1295
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261037; ENSP00000261037; ENSG00000144810
ENST00000273342; ENSP00000273342; ENSG00000144810
GeneIDi1295
KEGGihsa:1295
UCSCiuc003dtg.3 human

Organism-specific databases

CTDi1295
DisGeNETi1295
EuPathDBiHostDB:ENSG00000144810.15
GeneCardsiCOL8A1
HGNCiHGNC:2215 COL8A1
HPAiHPA053107
MIMi120251 gene
neXtProtiNX_P27658
OpenTargetsiENSG00000144810
PharmGKBiPA26731
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IE8J Eukaryota
ENOG410Y928 LUCA
GeneTreeiENSGT00760000118830
HOGENOMiHOG000085653
HOVERGENiHBG108220
InParanoidiP27658
OMAiEKGPIGA
OrthoDBiEOG091G0L3Y
PhylomeDBiP27658
TreeFamiTF334029

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

Miscellaneous databases

ChiTaRSiCOL8A1 human
GeneWikiiCollagen,_type_VIII,_alpha_1
GenomeRNAii1295
PROiPR:P27658
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000144810 Expressed in 174 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_COL8A1
ExpressionAtlasiP27658 baseline and differential
GenevisibleiP27658 HS

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
ProtoNetiSearch...

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: November 7, 2018
This is version 176 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
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