COL8A1 - collagen type VIII alpha 1 chain Gene

Also Known as C3orf7

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1295

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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence References 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 References
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%, as determined by reducing SDS-PAGE.

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