Gene Gene information from NCBI Gene database.
Entrez ID 1277
Gene name Collagen type I alpha 1 chain
Gene symbol COL1A1
Synonyms (NCBI Gene)
CAFYDEDSARTH1EDSCOI1OI2OI3OI4
Chromosome 17
Chromosome location 17q21.33
Summary 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. Mutati
SNPs SNP information provided by dbSNP.
423
SNP ID Visualize variation Clinical significance Consequence
rs1800211 C>T Likely-pathogenic, uncertain-significance Coding sequence variant, missense variant, intron variant
rs1800214 G>A,C,T Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, missense variant
rs2586486 G>A,T Pathogenic Coding sequence variant, stop gained, missense variant
rs8179178 C>A,T Pathogenic Coding sequence variant, missense variant
rs34940368 G>A,C Likely-benign, pathogenic, benign Synonymous variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
941
miRTarBase ID miRNA Experiments Reference
MIRT000928 hsa-miR-29c-3p Luciferase reporter assay 18390668
MIRT000928 hsa-miR-29c-3p Luciferase reporter assay 18390668
MIRT000928 hsa-miR-29c-3p Luciferase reporter assay 18390668
MIRT000928 hsa-miR-29c-3p Luciferase reporter assay 18390668
MIRT000928 hsa-miR-29c-3p Luciferase reporter assay 18390668
Transcription factors Transcription factors information provided by TRRUST V2 database.
12
Transcription factor Regulation Reference
CIITA Repression 16439692
ETS1 Unknown 16564026
MKL1 Activation 22049076
MYB Activation 9989795
MYBL2 Unknown 14613485
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
85
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development IEA
GO:0001501 Process Skeletal system development IMP 8097422
GO:0001501 Process Skeletal system development IMP 1874719, 14976317
GO:0001503 Process Ossification IEA
GO:0001568 Process Blood vessel development IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
120150 2197 ENSG00000108821
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P02452
Protein name Collagen alpha-1(I) chain (Alpha-1 type I collagen)
Protein function Type I collagen is a member of group I collagen (fibrillar forming collagen).
PDB 1Q7D , 2LLP , 3EJH , 3GXE , 5CTD , 5CTI , 5CVA , 5CVB , 5K31 , 5OU8 , 5OU9 , 7E7B , 7E7D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00093 VWC 40 95 von Willebrand factor type C domain Family
PF01391 Collagen 107 163 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 177 238 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 236 295 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 296 355 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 356 415 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 407 476 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 779 838 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 835 898 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 1013 1080 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 1076 1138 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 1133 1195 Collagen triple helix repeat (20 copies) Repeat
PF01410 COLFI 1227 1463 Fibrillar collagen C-terminal domain Family
Tissue specificity TISSUE SPECIFICITY: Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite.
Sequence
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRI
CVCDNGKVLCDDVICDETKNCPGAEVPEGECCPVC
PDGSESPTDQETTGVEGPKGDTGPR
GPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQL
SYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEA
GKPGR
PGERGPPGPQGARGLPGTAGLPGMKGHRGFSGLDGAKGDAGPAGPKGEPGSPGEN
GAPGQ
MGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEA
GPQGP
RGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIA
GAPGFPGARGPSGP
QGPGGPPGPKGNSGEPGAPGSKGDTGAKGEPGPVGVQGPPGPAGEEGKRGARGEPG
PTGL
PGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGL
TGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGV
PGPPGAVGPAGKDGEAGAQGPPGPAGPAGERGEQGPAGSPGFQGLPGPAGPPGEAGKPGE
QGVPGDLGAPGPSGARGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGDAGAPGAPGS
QGAPGLQGMPGERGAAGLPGPKGDRGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGD
KGESGPSGPAGPTGARGAPGDRGEPGPPGPAGFAGPPGADGQPGAKGEPGDAGA
KGDAGP
PGPAGPAGPPGPIGNVGAPGAKGARGSAGPPGATGFPGAAGRVGPPGPSGNAGPPGPP
GP
AGKEGGKGPRGETGPAGRPGEVGPPGPPGPAGEKGSPGADGPAGAPGTPGPQGIAGQRGV
VGLPGQRGERGFPGLPGPSGEPGKQGPSGASGERGPPGPMGPPGLAGPPGESGREGAPGA
EGSPGRDGSPGAKGDRGETGPAGPPGAPGAPGAPGPVGPAGKSGDRGETGPAGPT
GPVGP
VGARGPAGPQGPRGDKGETGEQGDRGIKGHRGFSGLQGPPGPPGSPGEQGPSGASGPAGP
RGPPGSAGAPGKDGLNGLPGPIGPPGPRGRTGDAGPVGPPGPPGPPGPPGPPSAG
FDFSF
LPQPPQEKAHDGGRYYRADDANVVRDRDLEVDTTLKSLSQQIENIRSPEGSRKNPARTCR
DLKMCHSDWKSGEYWIDPNQGCNLDAIKVFCNMETGETCVYPTQPSVAQKNWYISKNPKD
KRHVWFGESMTDGFQFEYGGQGSDPADVAIQLTFLRLMSTEASQNITYHCKNSVAYMDQQ
TGNLKKALLLQGSNEIEIRAEGNSRFTYSVTVDGCTSHTGAWGKTVIEYKTTKTSRLPII
DVAPLDVGAPDQEFGFDVGPVCF
L
Sequence length 1464
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Platelet activation
Cytoskeleton in muscle cells
Relaxin signaling pathway
AGE-RAGE signaling pathway in diabetic complications
Protein digestion and absorption
Amoebiasis
Human papillomavirus infection
Proteoglycans in cancer
Diabetic cardiomyopathy
  GPVI-mediated activation cascade
Collagen degradation
Extracellular matrix organization
Collagen biosynthesis and modifying enzymes
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Assembly of collagen fibrils and other multimeric structures
Cell surface interactions at the vascular wall
Integrin cell surface interactions
Anchoring fibril formation
Crosslinking of collagen fibrils
Non-integrin membrane-ECM interactions
ECM proteoglycans
GP1b-IX-V activation signalling
Platelet Adhesion to exposed collagen
Platelet Aggregation (Plug Formation)
MET activates PTK2 signaling
Collagen chain trimerization
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4324
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal bleeding Likely pathogenic rs1598297227 RCV000851994
Abnormality of the skeletal system Likely pathogenic; Pathogenic rs66527965, rs67815019, rs72653173 RCV001813997
RCV001814161
RCV001814012
Blue sclerae Pathogenic rs1057518930 RCV000415384
Bruising susceptibility Likely pathogenic; Pathogenic rs72645347 RCV000415259
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs1114167386, rs1555573717 -
Bone mineral density variation quantitative trait locus association rs1800012, rs1107946, rs11327935 RCV000018874
RCV000018881
RCV000018883
Cervical cancer Conflicting classifications of pathogenicity; Benign; Uncertain significance rs66592376, rs41317361, rs764436097 RCV005889925
RCV005895130
RCV005934670
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity; Benign; Likely benign rs66592376, rs41317361, rs201136122, rs778417218, rs142312753 RCV005889926
RCV005895131
RCV005894648
RCV005900984
RCV005898899
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 33261612
Adenocarcinoma Associate 30670912, 32255255, 33371142, 36759514
Adenocarcinoma of Lung Associate 30732676, 32669531, 33511215, 37189138, 37287976
Aneurysm Associate 26918470
Aneurysm Ruptured Associate 34290266
Anodontia Associate 32234057
Aortic Aneurysm Thoracic Associate 37640670
Aortic Valve Insufficiency Stimulate 32386768
Arthritis Rheumatoid Associate 22736089, 34290266
Asthma Associate 32512817