COL1A1

Protein identityUniProt · HPA

UniProt accession

P02452

Gene

COL1A1

Ensembl

ENSG00000108821

Chromosome

17

Canonical length

1464 aa

Protein class

Cancer-related genes, Disease related genes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted secreted proteins

Subcellular location

Endoplasmic reticulum,Vesicles

Secretome location

Secreted to extracellular matrix

OverviewNCBI Gene

This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]

Canonical amino-acid sequenceUniProt

1464 residues, UniProt reviewed canonical sequence.

>P02452|COL1A1
     1  MFSFVDLRLL LLLAATALLT HGQEEGQVEG QDEDIPPITC VQNGLRYHDR DVWKPEPCRI
    61  CVCDNGKVLC DDVICDETKN CPGAEVPEGE CCPVCPDGSE SPTDQETTGV EGPKGDTGPR
   121  GPRGPAGPPG RDGIPGQPGL PGPPGPPGPP GPPGLGGNFA PQLSYGYDEK STGGISVPGP
   181  MGPSGPRGLP GPPGAPGPQG FQGPPGEPGE PGASGPMGPR GPPGPPGKNG DDGEAGKPGR
   241  PGERGPPGPQ GARGLPGTAG LPGMKGHRGF SGLDGAKGDA GPAGPKGEPG SPGENGAPGQ
   301  MGPRGLPGER GRPGAPGPAG ARGNDGATGA AGPPGPTGPA GPPGFPGAVG AKGEAGPQGP
   361  RGSEGPQGVR GEPGPPGPAG AAGPAGNPGA DGQPGAKGAN GAPGIAGAPG FPGARGPSGP
   421  QGPGGPPGPK GNSGEPGAPG SKGDTGAKGE PGPVGVQGPP GPAGEEGKRG ARGEPGPTGL
   481  PGPPGERGGP GSRGFPGADG VAGPKGPAGE RGSPGPAGPK GSPGEAGRPG EAGLPGAKGL
   541  TGSPGSPGPD GKTGPPGPAG QDGRPGPPGP PGARGQAGVM GFPGPKGAAG EPGKAGERGV
   601  PGPPGAVGPA GKDGEAGAQG PPGPAGPAGE RGEQGPAGSP GFQGLPGPAG PPGEAGKPGE
   661  QGVPGDLGAP GPSGARGERG FPGERGVQGP PGPAGPRGAN GAPGNDGAKG DAGAPGAPGS
   721  QGAPGLQGMP GERGAAGLPG PKGDRGDAGP KGADGSPGKD GVRGLTGPIG PPGPAGAPGD
   781  KGESGPSGPA GPTGARGAPG DRGEPGPPGP AGFAGPPGAD GQPGAKGEPG DAGAKGDAGP
   841  PGPAGPAGPP GPIGNVGAPG AKGARGSAGP PGATGFPGAA GRVGPPGPSG NAGPPGPPGP
   901  AGKEGGKGPR GETGPAGRPG EVGPPGPPGP AGEKGSPGAD GPAGAPGTPG PQGIAGQRGV
   961  VGLPGQRGER GFPGLPGPSG EPGKQGPSGA SGERGPPGPM GPPGLAGPPG ESGREGAPGA
  1021  EGSPGRDGSP GAKGDRGETG PAGPPGAPGA PGAPGPVGPA GKSGDRGETG PAGPAGPVGP
  1081  VGARGPAGPQ GPRGDKGETG EQGDRGIKGH RGFSGLQGPP GPPGSPGEQG PSGASGPAGP
  1141  RGPPGSAGAP GKDGLNGLPG PIGPPGPRGR TGDAGPVGPP GPPGPPGPPG PPSAGFDFSF
  1201  LPQPPQEKAH DGGRYYRADD ANVVRDRDLE VDTTLKSLSQ QIENIRSPEG SRKNPARTCR
  1261  DLKMCHSDWK SGEYWIDPNQ GCNLDAIKVF CNMETGETCV YPTQPSVAQK NWYISKNPKD
  1321  KRHVWFGESM TDGFQFEYGG QGSDPADVAI QLTFLRLMST EASQNITYHC KNSVAYMDQQ
  1381  TGNLKKALLL QGSNEIEIRA EGNSRFTYSV TVDGCTSHTG AWGKTVIEYK TTKTSRLPII
  1441  DVAPLDVGAP DQEFGFDVGP VCFL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COL1A1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.65

Highest tissue expression

1,249 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COL1A1.

Disease | AllUniProt

Conditions COL1A1 is implicated in, by any mechanism.

• Caffey disease (CAFYD) MIM:114000
• Ehlers-Danlos syndrome, classic type, 1 (EDSCL1) MIM:130000
• Ehlers-Danlos syndrome, arthrochalasia type, 1 (EDSARTH1) MIM:130060
• Osteogenesis imperfecta 1 (OI1) MIM:166200
• Osteogenesis imperfecta 2 (OI2) MIM:166210
• Osteogenesis imperfecta 3 (OI3) MIM:259420
• Osteogenesis imperfecta 4 (OI4) MIM:166220
• Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 (OIEDS1) MIM:619115
• Osteoporosis (OSTEOP) MIM:166710

Disease | GeneticClinVar

1,490 pathogenic / likely-pathogenic of 3,820 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Osteogenesis imperfecta type I
• Osteogenesis imperfecta
• Osteogenesis imperfecta, perinatal lethal
• COL1A1-related disorder
• Osteogenesis imperfecta with normal sclerae, dominant form

Disease | ImmuneIEDB

Conditions an epitope on COL1A1 was assayed in.

• rheumatoid arthritis B cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.11

gnomAD pLI

1

gnomAD missense Z

3.53

DepMap mean gene effect

-0.16

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• blood vessel development
• bone trabecula formation
• cartilage development involved in endochondral bone morphogenesis
• cellular response to acetaldehyde
• cellular response to amino acid stimulus
• cellular response to epidermal growth factor stimulus
• cellular response to fibroblast growth factor stimulus
• cellular response to fluoride
• cellular response to glucose stimulus
• cellular response to mechanical stimulus
• cellular response to retinoic acid
• cellular response to transforming growth factor beta stimulus
• cellular response to tumor necrosis factor
• collagen biosynthetic process
• collagen fibril organization
• collagen-activated tyrosine kinase receptor signaling pathway
• embryonic skeletal system development
• endochondral ossification
• face morphogenesis
• intramembranous ossification
• negative regulation of cell-substrate adhesion
• osteoblast differentiation
• positive regulation of canonical Wnt signaling pathway
• positive regulation of cell migration
• positive regulation of DNA-templated transcription
• positive regulation of epithelial to mesenchymal transition
• protein localization to nucleus
• protein transport
• response to cAMP
• response to estradiol
• response to hydrogen peroxide
• response to hyperoxia
• response to insulin
• response to steroid hormone
• response to xenobiotic stimulus
• sensory perception of sound
• skeletal system development
• skin morphogenesis
• tooth mineralization
• visual perception
• cellular response to vitamin E

Molecular functions

• extracellular matrix structural constituent conferring tensile strength
• identical protein binding
• metal ion binding
• platelet-derived growth factor binding
• protease binding

Cellular components

• collagen type I trimer
• endoplasmic reticulum lumen
• extracellular matrix
• extracellular region
• extracellular space
• secretory granule

Protein domainsUniProt · Pfam · InterPro

• Fibrillar collagen, C-terminal
• VWFC domain
• Collagen triple helix repeat
• Collagen superfamily
• von Willebrand factor type C domain
• Collagen triple helix repeat (20 copies)
• Fibrillar collagen C-terminal domain

KeywordsUniProt

• Calcium
• Chromosomal rearrangement
• Collagen
• Disulfide bond
• Dwarfism
• Ehlers-Danlos syndrome
• Extracellular matrix
• Glycoprotein
• Hydroxylation
• Metal-binding
• Osteogenesis imperfecta
• Osteoporosis
• Phosphoprotein
• Pyrrolidone carboxylic acid
• Repeat
• Secreted
• Signal

InteractionsUniProt · HPA

Protein binding partners of COL1A1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• MFAP4
• MRC2
• TRAM2
• GP6
• COL1A2