1. Gene
  2. COL8A1 - collagen type VIII alpha 1 chain Gene

COL8A1 - collagen type VIII alpha 1 chain Gene

Homo sapiens

Also known as C3orf7

Gene ID: 1295 | Gene type: protein coding

About COL8A1

Cytogenetic location: 3q12.1 Genomic coordinates (GRCh38): 3:99,638,594-99,799,217 (from NCBI)

This gene has 9 transcripts (splice variants), 239 orthologues and 23 paralogues. Biased expression in urinary bladder (RPKM 16.8), lung (RPKM 16.6) and 13 other tissues.

Summary

This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Dec 2011]

COL8A1 Products(2)

mRNA Protein Name
NM_001850.5 NP_001841.2 collagen alpha-1(VIII) chain precursor
NM_020351.4 NP_065084.2 collagen alpha-1(VIII) chain precursor
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence Reference Source
involved in endodermal cell differentiation IEP
IEP: Inferred from expression pattern
23154389 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

COL8A1 Protein Structure

Collagen

Collagen: Collagen triple helix repeat (20 copies) (158 - 213)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (209 - 267)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (255 - 306)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (519 - 571)

C1q

C1q: C1q domain (617 - 741)

  • 0
  • 200
  • 400
  • 600
  • 744 a.a.
Protein Preferred Names Protein Names

collagen alpha-1(VIII) chain

cell proliferation-inducing protein 41

COL8A1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
COL8A1 P27658 KRT40 Homo sapiens Q6A162 25416956
Intra
COL8A1 P27658 KRT40 Homo sapiens Q6A162 25416956
Intra
COL8A1 P27658 KRTAP10-8 Homo sapiens P60410 32296183
Intra
COL8A1 P27658 KRTAP10-8 Homo sapiens P60410 32296183
Intra
COL8A1 P27658 KRTAP10-8 Homo sapiens P60410 25416956
Intra
COL8A1 P27658 KRTAP10-8 Homo sapiens P60410 32296183
Intra
COL8A1 P27658 KRTAP10-7 Homo sapiens P60409 25416956
Intra
COL8A1 P27658 RGS20 Homo sapiens O76081-6 32296183
Intra
COL8A1 P27658 RGS20 Homo sapiens O76081-6 32296183
Intra
COL8A1 P27658 CREB5 Homo sapiens Q02930-3 25416956
Intra
COL8A1 P27658 CREB5 Homo sapiens Q02930-3 32296183
Intra
COL8A1 P27658 SP4 Homo sapiens Q02446 25416956
Intra
COL8A1 P27658 KRTAP13-3 Homo sapiens Q3SY46 32296183
Intra
COL8A1 P27658 KRTAP13-3 Homo sapiens Q3SY46 32296183
Intra
COL8A1 P27658 KRTAP13-3 Homo sapiens Q3SY46 32296183
Intra
COL8A1 P27658 KRTAP19-7 Homo sapiens Q3SYF9 32296183
Intra
COL8A1 P27658 KRTAP19-7 Homo sapiens Q3SYF9 32296183
Intra
COL8A1 P27658 KRTAP19-7 Homo sapiens Q3SYF9 32296183
Intra
COL8A1 P27658 KRTAP5-6 Homo sapiens Q6L8G9 32296183
Intra
COL8A1 P27658 KRTAP5-6 Homo sapiens Q6L8G9 32296183
Intra
COL8A1 P27658 KRTAP5-6 Homo sapiens Q6L8G9 32296183
Intra
COL8A1 P27658 ZNF774 Homo sapiens Q6NX45 32296183
Intra
COL8A1 P27658 ZNF774 Homo sapiens Q6NX45 32296183
Intra
COL8A1 P27658 ZNF774 Homo sapiens Q6NX45 32296183
Intra
COL8A1 P27658 SPMIP6 Homo sapiens Q8NCR6 32296183
Intra
COL8A1 P27658 SPMIP6 Homo sapiens Q8NCR6 32296183
Intra
COL8A1 P27658 SPMIP6 Homo sapiens Q8NCR6 32296183
Intra
COL8A1 P27658 KRTAP9-3 Homo sapiens Q9BYQ3 32296183
Intra
COL8A1 P27658 KRTAP9-3 Homo sapiens Q9BYQ3 32296183
Intra
COL8A1 P27658 KRTAP9-3 Homo sapiens Q9BYQ3 32296183
Intra
COL8A1 P27658 KRT82 Homo sapiens Q9NSB4 32296183
Intra
COL8A1 P27658 KRT82 Homo sapiens Q9NSB4 32296183
Intra
COL8A1 P27658 KRT82 Homo sapiens Q9NSB4 32296183
Intra
COL8A1 P27658 KRT37 Homo sapiens O76014 32296183
Intra
COL8A1 P27658 KRT37 Homo sapiens O76014 32296183
Intra
COL8A1 P27658 KRTAP19-5 Homo sapiens Q3LI72 32296183
Intra
COL8A1 P27658 KRTAP19-5 Homo sapiens Q3LI72 32296183
Intra
COL8A1 P27658 KRTAP19-5 Homo sapiens Q3LI72 32296183
Intra
COL8A1 P27658 KLHL20 Homo sapiens Q9BS75 32296183
Intra
COL8A1 P27658 KLHL20 Homo sapiens Q9BS75 32296183
Intra
COL8A1 P27658 KLHL20 Homo sapiens Q9BS75 32296183
Intra
COL8A1 P27658 KPRP Homo sapiens Q5T749 32296183
Intra
COL8A1 P27658 KPRP Homo sapiens Q5T749 32296183
Intra
COL8A1 P27658 KPRP Homo sapiens Q5T749 32296183
Intra
COL8A1 P27658 KRTAP1-3 Homo sapiens Q8IUG1 32296183
Intra
COL8A1 P27658 KRTAP1-3 Homo sapiens Q8IUG1 32296183
Intra
COL8A1 P27658 KRTAP12-3 Homo sapiens P60328 32296183
Intra
COL8A1 P27658 KRTAP12-3 Homo sapiens P60328 32296183
Intra
COL8A1 P27658 KRTAP12-3 Homo sapiens P60328 32296183
Intra
COL8A1 P27658 KRTAP6-2 Homo sapiens Q3LI66 32296183
Intra
COL8A1 P27658 KRTAP6-2 Homo sapiens Q3LI66 32296183
Intra
COL8A1 P27658 KRTAP6-2 Homo sapiens Q3LI66 32296183
Intra
COL8A1 P27658 ACTMAP Homo sapiens Q5BKX5-3 32296183
Intra
COL8A1 P27658 ACTMAP Homo sapiens Q5BKX5-3 32296183
Intra
COL8A1 P27658 ACTMAP Homo sapiens Q5BKX5-3 32296183
Intra
COL8A1 P27658 POF1B Homo sapiens Q8WVV4-1 32296183
Intra
COL8A1 P27658 POF1B Homo sapiens Q8WVV4-1 32296183
Intra
COL8A1 P27658 POF1B Homo sapiens Q8WVV4-1 32296183
Intra
COL8A1 P27658 KRTAP5-7 Homo sapiens Q6L8G8 32296183
Intra
COL8A1 P27658 KRTAP5-7 Homo sapiens Q6L8G8 32296183
Intra
COL8A1 P27658 KRTAP5-7 Homo sapiens Q6L8G8 32296183
Intra
COL8A1 P27658 WFDC5 Homo sapiens Q8TCV5 32296183
Intra
COL8A1 P27658 WFDC5 Homo sapiens Q8TCV5 32296183
Intra
COL8A1 P27658 WFDC5 Homo sapiens Q8TCV5 32296183
Intra
COL8A1 P27658 KRTAP19-2 Homo sapiens Q3LHN2 32296183
Intra
COL8A1 P27658 KRTAP19-2 Homo sapiens Q3LHN2 32296183
Intra
COL8A1 P27658 KRTAP19-2 Homo sapiens Q3LHN2 32296183
Intra
COL8A1 P27658 FAM86C1P Homo sapiens Q9NVL1-2 32296183
Intra
COL8A1 P27658 FAM86C1P Homo sapiens Q9NVL1-2 32296183
Intra
COL8A1 P27658 FAM86C1P Homo sapiens Q9NVL1-2 32296183
Intra
COL8A1 P27658 LIMS1 Homo sapiens P48059-3 32296183
Intra
COL8A1 P27658 LIMS1 Homo sapiens P48059-3 32296183
Intra
COL8A1 P27658 LIMS1 Homo sapiens P48059-3 32296183
Intra
COL8A1 P27658 SLC35A2 Homo sapiens P78381-3 32296183
Intra
COL8A1 P27658 SLC35A2 Homo sapiens P78381-3 32296183
Intra
COL8A1 P27658 SLC35A2 Homo sapiens P78381-3 32296183
Intra
COL8A1 P27658 POU4F2 Homo sapiens Q12837 32296183
Intra
COL8A1 P27658 POU4F2 Homo sapiens Q12837 32296183
Intra
COL8A1 P27658 POU4F2 Homo sapiens Q12837 32296183
Intra
COL8A1 P27658 RHBDD2 Homo sapiens Q6NTF9-3 32296183
Intra
COL8A1 P27658 RHBDD2 Homo sapiens Q6NTF9-3 32296183
Intra
COL8A1 P27658 RHBDD2 Homo sapiens Q6NTF9-3 32296183
Intra
COL8A1 P27658 TRIM35 Homo sapiens Q9UPQ4-2 32296183
Intra
COL8A1 P27658 TRIM35 Homo sapiens Q9UPQ4-2 32296183
Intra
COL8A1 P27658 TRIM35 Homo sapiens Q9UPQ4-2 32296183
Intra
COL8A1 P27658 MAJIN Homo sapiens Q3KP22-3 32296183
Intra
COL8A1 P27658 MAJIN Homo sapiens Q3KP22-3 32296183
Intra
COL8A1 P27658 MAJIN Homo sapiens Q3KP22-3 32296183
Intra
COL8A1 P27658 DPEP2NB Homo sapiens A0A0U1RQF7 32296183
Intra
COL8A1 P27658 DPEP2NB Homo sapiens A0A0U1RQF7 32296183
Intra
COL8A1 P27658 GSC2 Homo sapiens O15499 32296183
Intra
COL8A1 P27658 GSC2 Homo sapiens O15499 32296183
Intra
COL8A1 P27658 VAC14 Homo sapiens Q08AM6 32296183
Intra
COL8A1 P27658 VAC14 Homo sapiens Q08AM6 32296183
Intra
COL8A1 P27658 VAC14 Homo sapiens Q08AM6 32296183
Intra
COL8A1 P27658 VAC14 Homo sapiens Q08AM6 29892012
Intra
COL8A1 P27658 VAC14 Homo sapiens Q08AM6 25416956
Intra
COL8A1 P27658 NOTCH2NLC Homo sapiens P0DPK4 32296183
Intra
COL8A1 P27658 NOTCH2NLC Homo sapiens P0DPK4 32296183
Intra
COL8A1 P27658 KRTAP6-3 Homo sapiens Q3LI67 32296183
Intra
COL8A1 P27658 KRTAP6-3 Homo sapiens Q3LI67 32296183
Intra
COL8A1 P27658 ZNHIT1 Homo sapiens O43257 32296183
Intra
COL8A1 P27658 ZNHIT1 Homo sapiens O43257 32296183
Intra
COL8A1 P27658 SPRY4 Homo sapiens Q9C004 32296183
Intra
COL8A1 P27658 SPRY4 Homo sapiens Q9C004 32296183
Intra
COL8A1 P27658 SPRY4 Homo sapiens Q9C004 32296183
Intra
COL8A1 P27658 GLRX3 Homo sapiens O76003 32296183
Intra
COL8A1 P27658 GLRX3 Homo sapiens O76003 32296183
Intra
COL8A1 P27658 CYSRT1 Homo sapiens A8MQ03 32296183
Intra
COL8A1 P27658 CYSRT1 Homo sapiens A8MQ03 32296183
Intra
COL8A1 P27658 CCN3 Homo sapiens P48745 32296183
Intra
COL8A1 P27658 CCN3 Homo sapiens P48745 32296183
Intra
COL8A1 P27658 CCN3 Homo sapiens P48745 32296183
Intra
COL8A1 P27658 KRTAP26-1 Homo sapiens Q6PEX3 25416956
Intra
COL8A1 P27658 KRTAP5-9 Homo sapiens P26371 32296183
Intra
COL8A1 P27658 KRTAP5-9 Homo sapiens P26371 32296183
Intra
COL8A1 P27658 ARMC5 Homo sapiens Q96C12 32296183
Intra
COL8A1 P27658 ARMC5 Homo sapiens Q96C12 32296183
Intra
COL8A1 P27658 ARMC5 Homo sapiens Q96C12 32296183
Intra
COL8A1 P27658 INCA1 Homo sapiens Q0VD86 32296183
Intra
COL8A1 P27658 INCA1 Homo sapiens Q0VD86 31515488
Intra
COL8A1 P27658 INCA1 Homo sapiens Q0VD86 32296183
Intra
COL8A1 P27658 INCA1 Homo sapiens Q0VD86 25416956
Intra
COL8A1 P27658 INCA1 Homo sapiens Q0VD86 32296183
Intra
COL8A1 P27658 CIDEB Homo sapiens Q9UHD4 32296183
Intra
COL8A1 P27658 CIDEB Homo sapiens Q9UHD4 32296183
Intra
COL8A1 P27658 CIDEB Homo sapiens Q9UHD4 32296183
Intra
COL8A1 P27658 CFAP68 Homo sapiens Q9H5F2 32296183
Intra
COL8A1 P27658 CFAP68 Homo sapiens Q9H5F2 32296183
Intra
COL8A1 P27658 CFAP68 Homo sapiens Q9H5F2 32296183
Intra
COL8A1 P27658 FBXO34 Homo sapiens Q9NWN3 32296183
Intra
COL8A1 P27658 FBXO34 Homo sapiens Q9NWN3 32296183
Intra
COL8A1 P27658 FBXO34 Homo sapiens Q9NWN3 32296183
Intra
COL8A1 P27658 FRS3 Homo sapiens O43559 32296183
Intra
COL8A1 P27658 FRS3 Homo sapiens O43559 32296183
Intra
COL8A1 P27658 C22orf39 Homo sapiens Q6P5X5 32296183
Intra
COL8A1 P27658 C22orf39 Homo sapiens Q6P5X5 32296183
Intra
COL8A1 P27658 C22orf39 Homo sapiens Q6P5X5 32296183
Intra
COL8A1 P27658 RBPMS Homo sapiens Q93062-3 32296183
Intra
COL8A1 P27658 RBPMS Homo sapiens Q93062-3 32296183
Intra
COL8A1 P27658 RBPMS Homo sapiens Q93062-3 32296183
Intra
COL8A1 P27658 OTX1 Homo sapiens P32242 32296183
Intra
COL8A1 P27658 HOXA1 Homo sapiens P49639 32296183
Intra
COL8A1 P27658 HOXA1 Homo sapiens P49639 32296183
Intra
COL8A1 P27658 HOXA1 Homo sapiens P49639 32296183
Intra
COL8A1 P27658 CEP55 Homo sapiens Q53EZ4 32296183
Intra
COL8A1 P27658 CEP55 Homo sapiens Q53EZ4 32296183
Intra
COL8A1 P27658 CEP55 Homo sapiens Q53EZ4 32296183
Intra
COL8A1 P27658 NADSYN1 Homo sapiens Q6IA69 32296183
Intra
COL8A1 P27658 NADSYN1 Homo sapiens Q6IA69 32296183
Intra
COL8A1 P27658 NADSYN1 Homo sapiens Q6IA69 32296183
Intra
COL8A1 P27658 PLSCR3 Homo sapiens Q9NRY6 32296183
Intra
COL8A1 P27658 PLSCR3 Homo sapiens Q9NRY6 32296183
Intra
COL8A1 P27658 PLSCR3 Homo sapiens Q9NRY6 32296183
Intra
COL8A1 P27658 KRTAP3-2 Homo sapiens Q9BYR7 32296183
Intra
COL8A1 P27658 KRTAP3-2 Homo sapiens Q9BYR7 32296183
Intra
COL8A1 P27658 KRTAP3-2 Homo sapiens Q9BYR7 32296183
Intra
COL8A1 P27658 SPATA8 Homo sapiens Q6RVD6 32296183
Intra
COL8A1 P27658 SPATA8 Homo sapiens Q6RVD6 32296183
Intra
COL8A1 P27658 SPATA8 Homo sapiens Q6RVD6 32296183
Intra
COL8A1 P27658 NOTCH2NLA Homo sapiens Q7Z3S9 25416956
Intra
COL8A1 P27658 UBQLN2 Homo sapiens Q9UHD9 32296183
Intra
COL8A1 P27658 UBQLN2 Homo sapiens Q9UHD9 32296183
Intra
COL8A1 P27658 UBQLN2 Homo sapiens Q9UHD9 32296183
Intra
COL8A1 P27658 FBLN2 Homo sapiens P98095 32296183
Intra
COL8A1 P27658 FBLN2 Homo sapiens P98095 32296183
Intra
COL8A1 P27658 FBLN2 Homo sapiens P98095 32296183
Intra
COL8A1 P27658 BPIFA1 Homo sapiens Q9NP55 32296183
Intra
COL8A1 P27658 BPIFA1 Homo sapiens Q9NP55 32296183
Intra
COL8A1 P27658 BPIFA1 Homo sapiens Q9NP55 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant COL8A1 Proteins

Cat. No. Product Name Accession Purity
HY-P70018 Collagen alpha-1(VIII) chain/COL8A1 Protein, Human (HEK293, His) P27658 (G28-M744) ≥95%

Related Diseases

Diseases Alias
Corneal Endothelial Dystrophy

Congenital Hereditary Endothelial Dystrophy Of Cornea

Chandler Syndrome

CHED

Chandler'S Syndrome

Endothelial Corneal Dystrophy

Ched2

Maumenee Corneal Dystrophy

Corneal Dystrophy, Congenital Hereditary Endothelial

Dystrophy Of Corneal Endothelium

Corneal Endothelial Dystrophy 2

Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly

Ched2, Formerly

Corneal Endothelial Dystrophy, Autosomal Recessive

Endothelial Dystrophy

Posterior Membrane Corneal Dystrophy

Corneal Endothelial Dystrophy Type 2

Congenital Hereditary Endothelial Dystrophy Of The Cornea

Congenital Hereditary Endothelial Dystrophy Type Ii

Autosomal Recessive Ched

Autosomal Recessive Congenital Hereditary Endothelial Dystrophy

Chedii

Congenital Hereditary Endothelial Dystrophy Type 2

Infantile Hereditary Endothelial Dystrophy

Congenital Hereditary Endothelial Corneal Dystrophy

Corneal Endothelial Dystrophy 2, Autosomal Recessive

Iridocorneal Endothelial Syndrome

Dystrophy, Corneal, Endothelial

Corneal Endothelial Dystrophy 1, Autosomal Dominant

Corneal Dystrophy
Macular Degeneration, Age-Related, 1

Macular Degeneration

Age-Related Macular Degeneration

Macular Degeneration, Age-Related

Age Related Macular Degeneration

Age Related Macular Degeneration 1

ARMD1

Senile Macular Degeneration

Maculopathy, Age-Related, 1

Macular Degeneration, Age-Related, Reduced Risk Of

Age Related Maculopathy 1

Age Related Maculopathies

Age Related Maculopathy

Senile Macular Retinal Degeneration

Macular Degeneration Of Retina

Age-Related Maculopathy

Amd

Armd

Age-Related Maculopathy, Susceptibility To

Maculopathy Age-Related

Macular Degeneration, Age-Related, 1, Susceptibility To

Maculopathy, Age-Related

Macular Degeneration, Age-Related, Type 1

Macular Degeneration, Age-Related, 2

Corneal Dystrophy, Posterior Polymorphous, 1

Posterior Polymorphous Corneal Dystrophy

Ppcd

Maumenee Corneal Dystrophy

Posterior Polymorphous Corneal Dystrophy 1

PPCD1

Corneal Dystrophy, Hereditary Polymorphous Posterior

Corneal Endothelial Dystrophy 1, Autosomal Dominant

Schlichting Dystrophy

Ched1

Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly

Ched1, Formerly

Hereditary Polymorphus Posterior Corneal Dystrophy

Posterior Polymorphous Dystrophy

Hereditary Polymorphous Posterior Corneal Dystrophy

Dystrophy, Corneal, Posterior Polymorphous

Dystrophy, Corneal, Posterior Polymorphous, Type 1

Polymorphous Corneal Dystrophy

Corneal Endothelial Dystrophy 2

Keratoconus

Kc

Conical Cornea

Noninflammatory Corneal Thining

Bulging Cornea

Cornea Conical

Acquired Conus Of Cornea

Sorsby Fundus Dystrophy

SFD

Fundus Dystrophy, Pseudoinflammatory, Of Sorsby

Sorsby'S Fundus Dystrophy

Macular Dystrophy, Hemorrhagic

Hemorrhagic Macular Dystrophy

Pseudoinflammatory Fundus Dystrophy Of Sorsby

Sorsby'S Pseudoinflammatory Macular Dystrophy

Sorsby Pseudoinflammatory Fundus Dystrophy

Dystrophy, Fundus, Sorsby

Degenerative Myopia

Pathological Myopia

Myopia, Degenerative

Degenerative Progressive High Myopia

Progressive High Myopia

Progressive High Myopia

Fuchs' Endothelial Dystrophy

Fuchs Endothelial Corneal Dystrophy

Fuchs Endothelial Dystrophy

Fuchs Dystrophy

Fced

Fuchs' Corneal Dystrophy

Fuchs' Endothelial Corneal Dystrophy

Fuchs Atrophy

Fuchs Corneal Dystrophy

Endoepithelial Corneal Dystrophy

Fecd

Late Hereditary Endothelial Dystrophy

Corneal Dystrophy, Fuchs Endothelial

Dystrophy, Corneal, Fuchs Endothelial

Corneal Dystrophy, Fuchs' Endothelial, 1

Adamantinous Craniopharyngioma

Adamantinous Rathke'S Pouch Tumor

Craniopharyngioma, Adamantinomatous

Adamantinomatous Craniopharyngioma

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus COL8A1 VGNC VGNC:61070
Bos taurus COL8A1 VGNC VGNC:27574
Rattus norvegicus COL8A1 RGD RGD:1309361
Macaca mulatta COL8A1 VGNC VGNC:71304
Canis familiaris COL8A1 VGNC VGNC:39484
Mus musculus COL8A1 MGD MGI:88463
Others COL8A1 NCBI