Human Gene COL1A1 (uc002iqm.3)
  Description: Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.
RefSeq Summary (NM_000088): 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]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments.
Transcript (Including UTRs)
   Position: hg19 chr17:48,261,457-48,279,000 Size: 17,544 Total Exon Count: 51 Strand: -
Coding Region
   Position: hg19 chr17:48,262,863-48,278,874 Size: 16,012 Coding Exon Count: 51 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviews
Model InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:48,261,457-48,279,000)mRNA (may differ from genome)Protein (1464 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CO1A1_HUMAN
DESCRIPTION: RecName: Full=Collagen alpha-1(I) chain; AltName: Full=Alpha-1 type I collagen; Flags: Precursor;
FUNCTION: Type I collagen is a member of group I collagen (fibrillar forming collagen).
SUBUNIT: Trimers of one alpha 2(I) and two alpha 1(I) chains. Interacts with MRC2 (By similarity). Interacts with TRAM2.
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix (By similarity).
TISSUE SPECIFICITY: Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite.
DOMAIN: The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity).
PTM: Proline residues at the third position of the tripeptide repeating unit (G-X-P) are hydroxylated in some or all of the chains. Proline residues at the second position of the tripeptide repeating unit (G-P-X) are hydroxylated in some of the chains.
PTM: O-linked glycan consists of a Glc-Gal disaccharide bound to the oxygen atom of a post-translationally added hydroxyl group.
DISEASE: Defects in COL1A1 are the cause of Caffey disease (CAFFD) [MIM:114000]; also known as infantile cortical hyperostosis. Caffey disease is characterized by an infantile episode of massive subperiosteal new bone formation that typically involves the diaphyses of the long bones, mandible, and clavicles. The involved bones may also appear inflamed, with painful swelling and systemic fever often accompanying the illness. The bone changes usually begin before 5 months of age and resolve before 2 years of age.
DISEASE: Defects in COL1A1 are a cause of Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]; also known as Ehlers-Danlos syndrome gravis. EDS is a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS1 is the severe form of classic Ehlers-Danlos syndrome.
DISEASE: Defects in COL1A1 are the cause of Ehlers-Danlos syndrome type 7A (EDS7A) [MIM:130060]; also known as autosomal dominant Ehlers-Danlos syndrome type VII. EDS is a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS7A is marked by bilateral congenital hip dislocation, hyperlaxity of the joints, and recurrent partial dislocations.
DISEASE: Defects in COL1A1 are a cause of osteogenesis imperfecta type 1 (OI1) [MIM:166200]. A dominantly inherited connective tissue disorder characterized by bone fragility and blue sclerae. Osteogenesis imperfecta type 1 is non-deforming with normal height or mild short stature, and no dentinogenesis imperfecta.
DISEASE: Defects in COL1A1 are a cause of osteogenesis imperfecta type 2 (OI2) [MIM:166210]; also known as osteogenesis imperfecta congenita. A connective tissue disorder characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency.
DISEASE: Defects in COL1A1 are a cause of osteogenesis imperfecta type 3 (OI3) [MIM:259420]. A connective tissue disorder characterized by progressively deforming bones, very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta.
DISEASE: Defects in COL1A1 are a cause of osteogenesis imperfecta type 4 (OI4) [MIM:166220]; also known as osteogenesis imperfecta with normal sclerae. A connective tissue disorder characterized by moderately short stature, mild to moderate scoliosis, grayish or white sclera and dentinogenesis imperfecta.
DISEASE: Genetic variations in COL1A1 are a cause of susceptibility to osteoporosis (OSTEOP) [MIM:166710]; also known as involutional or senile osteoporosis or postmenopausal osteoporosis. Osteoporosis is characterized by reduced bone mass, disruption of bone microarchitecture without alteration in the composition of bone. Osteoporotic bones are more at risk of fracture.
DISEASE: Note=A chromosomal aberration involving COL1A1 is found in dermatofibrosarcoma protuberans. Translocation t(17;22)(q22;q13) with PDGF.
SIMILARITY: Belongs to the fibrillar collagen family.
SIMILARITY: Contains 1 fibrillar collagen NC1 domain.
SIMILARITY: Contains 1 VWFC domain.
SEQUENCE CAUTION: Sequence=BAD92834.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
WEB RESOURCE: Name=Osteogenesis imperfecta variant database; Note=Collagen type I alpha 1 (COL1A1); URL="http://oi.gene.le.ac.uk/home.php?select_db=COL1A1";
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/COL1A1ID186.html";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL1A1";
WEB RESOURCE: Name=Wikipedia; Note=Type-I collagen entry; URL="http://en.wikipedia.org/wiki/Type-I_collagen";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): COL1A1
CDC HuGE Published Literature: COL1A1
Positive Disease Associations: achondroplasia , betaCL osteocalcin , bone characteristics , bone density , bone density; fractures, vertebral , bone density; muscle strength , bone fractures , bone mass , bone mineral density , Breast cancer , femoral neck geometry , Hip Fractures , lumbar disc disease , mild chondrodysplasia , mild osteogenesis imperfecta , osteoarthritis , osteoporosis , otosclerosis , periodontitis , plasma protein C levels , prevalent fractures , spondyloepiphyseal dysplasia tall stature and precocious osteoarthritis , Triglycerides
Related Studies:
  1. achondroplasia
    Fathman CG et al. 1985, Nonrandom association of a type II procollagen genotype with achondroplasia., Proceedings of the National Academy of Sciences of the United States of America. 1985 Aug;82(16):5465-9. [PubMed 2991928]
  2. betaCL osteocalcin
    , Relations between VDR3 and COL1A1 genes and markers of bone tissue metabolism in patients with chronic obstructive pulmonary disease, Ter Arkh 2006 78(3) 17-20. [PubMed 17019952]
    Testing of VDR3 and COL1A1 genes gives grounds for detection of predisposition to development of pulmonogenic osteopenic syndrome.
  3. bone characteristics
    van der Sluis IM et al. 2002, Collagen Ialpha1 polymorphism is associated with bone characteristics in Caucasian children and young adults., Calcified tissue international. 2002 Nov;71(5):393-9. [PubMed 12232678]
    In conclusion, the COLIA1 polymorphism in children and young adults is associated with several bone characteristics. However, at least a part of the COLIA1 effect on bone mass may be related to differences in frame size.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: COL1A1
Diseases sorted by gene-association score: caffey disease* (1716), osteogenesis imperfecta, type i* (1590), osteogenesis imperfecta, type iv* (1122), osteogenesis imperfecta, type iii* (1122), osteogenesis imperfecta, type ii* (1122), ehlers-danlos syndrome, type viib* (955), ehlers-danlos syndrome, classic type* (716), ehlers-danlos syndrome type ii* (433), high bone mass osteogenesis imperfecta* (368), ehlers-danlos syndrome, vascular-like type* (350), osteogenesis imperfecta* (338), osteoporosis* (310), osteogenesis imperfecta, type vi* (294), dermatofibrosarcoma protuberans* (290), classic non-deforming osteogenesis imperfecta with blue sclerae* (283), progressively deforming osteogenesis imperfecta* (283), ehlers-danlos/osteogenesis imperfecta syndrome* (247), type i ehlers-danlos syndrome* (202), col1a1/2-related osteogenesis imperfecta* (141), ehlers-danlos syndrome, classic type, col1a1-related* (100), dentinogenesis imperfecta (34), otosclerosis (33), ehlers-danlos syndrome (26), collagen disease (22), ehlers-danlos syndrome, type vii (19), osteoporotic fracture (19), ring chromosome 4 (17), syringomyelia (15), bruck syndrome (14), perinatally lethal osteogenesis imperfecta (13), van buchem disease (13), gnathodiaphyseal dysplasia (13), larsen-like syndrome (13), bednar tumor (12), hyperostosis (12), scoliosis (11), ehlers-danlos syndrome, type vi (11), pilomyxoid astrocytoma (9), bone development disease (9), idiopathic juvenile osteoporosis (8), osteogenesis imperfecta, type viii (8), osteogenesis imperfecta, type v (8), adult fibrosarcoma (7), frozen shoulder (7), dermis tumor (6), synovial chondromatosis (6), osteogenesis imperfecta, type vii (6), ovarian epithelial cancer (6), crest syndrome (6), alport syndrome (6), sclerosteosis (6), bone cancer (6), connective tissue cancer (5), skin sarcoma (5), axenfeld-rieger syndrome (5), lipodermatosclerosis (5), pfeiffer syndrome (5), skin benign neoplasm (4), sed congenita (3), connective tissue disease (3), myopia (3), bone resorption disease (1), pilocytic astrocytoma (1), tetralogy of fallot (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1210.30 RPKM in Cells - Cultured fibroblasts
Total median expression: 5055.28 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -40.00126-0.317 Picture PostScript Text
3' UTR -454.041406-0.323 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008160 - Collagen
IPR000885 - Fib_collagen_C
IPR001007 - VWF_C

Pfam Domains:
PF00093 - von Willebrand factor type C domain
PF01391 - Collagen triple helix repeat (20 copies)
PF01410 - Fibrillar collagen C-terminal domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1Q7D - X-ray 2LLP - NMR 3EJH - X-ray MuPIT 3GXE - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P02452
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0002020 protease binding
GO:0005201 extracellular matrix structural constituent
GO:0005515 protein binding
GO:0042802 identical protein binding
GO:0046872 metal ion binding
GO:0048407 platelet-derived growth factor binding

Biological Process:
GO:0001501 skeletal system development
GO:0001503 ossification
GO:0001568 blood vessel development
GO:0001649 osteoblast differentiation
GO:0001957 intramembranous ossification
GO:0001958 endochondral ossification
GO:0007584 response to nutrient
GO:0007596 blood coagulation
GO:0007601 visual perception
GO:0007605 sensory perception of sound
GO:0009612 response to mechanical stimulus
GO:0010718 positive regulation of epithelial to mesenchymal transition
GO:0010812 negative regulation of cell-substrate adhesion
GO:0015031 protein transport
GO:0030168 platelet activation
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0030335 positive regulation of cell migration
GO:0031667 response to nutrient levels
GO:0031960 response to corticosteroid
GO:0032355 response to estradiol
GO:0032964 collagen biosynthetic process
GO:0034504 protein localization to nucleus
GO:0034505 tooth mineralization
GO:0038063 collagen-activated tyrosine kinase receptor signaling pathway
GO:0042060 wound healing
GO:0042493 response to drug
GO:0042542 response to hydrogen peroxide
GO:0043434 response to peptide hormone
GO:0043588 skin development
GO:0043589 skin morphogenesis
GO:0044344 cellular response to fibroblast growth factor stimulus
GO:0044691 tooth eruption
GO:0045893 positive regulation of transcription, DNA-templated
GO:0048545 response to steroid hormone
GO:0048705 skeletal system morphogenesis
GO:0048706 embryonic skeletal system development
GO:0050776 regulation of immune response
GO:0050900 leukocyte migration
GO:0051591 response to cAMP
GO:0055093 response to hyperoxia
GO:0060325 face morphogenesis
GO:0060346 bone trabecula formation
GO:0060351 cartilage development involved in endochondral bone morphogenesis
GO:0070208 protein heterotrimerization
GO:0071230 cellular response to amino acid stimulus
GO:0071260 cellular response to mechanical stimulus
GO:0071300 cellular response to retinoic acid
GO:0071306 cellular response to vitamin E
GO:0071356 cellular response to tumor necrosis factor
GO:0071364 cellular response to epidermal growth factor stimulus
GO:0071560 cellular response to transforming growth factor beta stimulus
GO:0090263 positive regulation of canonical Wnt signaling pathway
GO:1902617 response to fluoride
GO:1902618 cellular response to fluoride

Cellular Component:
GO:0005576 extracellular region
GO:0005581 collagen trimer
GO:0005584 collagen type I trimer
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen
GO:0005794 Golgi apparatus
GO:0030141 secretory granule
GO:0031012 extracellular matrix


-  Descriptions from all associated GenBank mRNAs
  LP886336 - Sequence 228 from Patent WO2017201352.
LP978093 - Sequence 228 from Patent WO2017120612.
Z74615 - H.sapiens mRNA for prepro-alpha1(I) collagen.
LF209265 - JP 2014500723-A/16768: Polycomb-Associated Non-Coding RNAs.
LF327362 - JP 2014500723-A/134865: Polycomb-Associated Non-Coding RNAs.
JD023555 - Sequence 4579 from Patent EP1572962.
JD033542 - Sequence 14566 from Patent EP1572962.
LF327361 - JP 2014500723-A/134864: Polycomb-Associated Non-Coding RNAs.
JD515162 - Sequence 496186 from Patent EP1572962.
JD322626 - Sequence 303650 from Patent EP1572962.
JD413954 - Sequence 394978 from Patent EP1572962.
JD125087 - Sequence 106111 from Patent EP1572962.
JD205013 - Sequence 186037 from Patent EP1572962.
LF327359 - JP 2014500723-A/134862: Polycomb-Associated Non-Coding RNAs.
JD450042 - Sequence 431066 from Patent EP1572962.
MA265473 - JP 2017503859-A/15: Materials and methods for modulation of tendon healing.
LF327358 - JP 2014500723-A/134861: Polycomb-Associated Non-Coding RNAs.
JD144830 - Sequence 125854 from Patent EP1572962.
JD196577 - Sequence 177601 from Patent EP1572962.
LF327357 - JP 2014500723-A/134860: Polycomb-Associated Non-Coding RNAs.
JD379415 - Sequence 360439 from Patent EP1572962.
JD103476 - Sequence 84500 from Patent EP1572962.
JD303398 - Sequence 284422 from Patent EP1572962.
JD151358 - Sequence 132382 from Patent EP1572962.
JD366989 - Sequence 348013 from Patent EP1572962.
LF327354 - JP 2014500723-A/134857: Polycomb-Associated Non-Coding RNAs.
LF327352 - JP 2014500723-A/134855: Polycomb-Associated Non-Coding RNAs.
M32798 - Human alpha-1 collagen type 1 mRNA, 3' end.
M32790 - Human alpha-1 collagen type 1 (osteogenesis imperfecta allele) mRNA, 3' end.
BC036531 - Homo sapiens collagen, type I, alpha 1, mRNA (cDNA clone MGC:33668 IMAGE:5264710), complete cds.
K01228 - Human proalpha 1 (I) chain of type I procollagen mRNA (partial).
AB209597 - Homo sapiens mRNA for Collagen alpha 1 chain precursor variant protein.
JD377398 - Sequence 358422 from Patent EP1572962.
JD052590 - Sequence 33614 from Patent EP1572962.
JD040499 - Sequence 21523 from Patent EP1572962.
LF327351 - JP 2014500723-A/134854: Polycomb-Associated Non-Coding RNAs.
AH002675 - Homo sapiens pro-alpha-1 collagen type 1 (COL1A1) mRNA, partial cds.
LF327350 - JP 2014500723-A/134853: Polycomb-Associated Non-Coding RNAs.
S64596 - COL1A1=type I collagen pro alpha 1(I) chain propeptide {3' region} [human, fetal cells 86-237, 86-146, 88-251, mRNA Partial Mutant, 855 nt].
JQ236861 - Homo sapiens collagen alpha-1(I) chain preproprotein (COL1A1) mRNA, complete cds.
DQ893571 - Synthetic construct clone IMAGE:100006201; FLH170655.01X; RZPDo839H1198D collagen, type I, alpha 1 (COL1A1) gene, encodes complete protein.
EU176569 - Synthetic construct Homo sapiens clone IMAGE:100011386; FLH170654.01L; RZPDo839B12253D collagen, type I, alpha 1 (COL1A1) gene, encodes complete protein.
AB384988 - Synthetic construct DNA, clone: pF1KB4786, Homo sapiens COL1A1 gene for collagen alpha-1(I) chain precursor, complete cds, without stop codon, in Flexi system.
LF327349 - JP 2014500723-A/134852: Polycomb-Associated Non-Coding RNAs.
X06269 - Human mRNA for pro-1(I)collagen chain (Col1A1).
LF327346 - JP 2014500723-A/134849: Polycomb-Associated Non-Coding RNAs.
LF327345 - JP 2014500723-A/134848: Polycomb-Associated Non-Coding RNAs.
AK297731 - Homo sapiens cDNA FLJ51252 complete cds, highly similar to Collagen alpha-1(I) chain precursor.
S67495 - alpha1(I) procollagen [human, mRNA Partial, 66 nt].
LF327343 - JP 2014500723-A/134846: Polycomb-Associated Non-Coding RNAs.
LF327341 - JP 2014500723-A/134844: Polycomb-Associated Non-Coding RNAs.
LF327340 - JP 2014500723-A/134843: Polycomb-Associated Non-Coding RNAs.
LF327338 - JP 2014500723-A/134841: Polycomb-Associated Non-Coding RNAs.
AX752124 - Sequence 3 from Patent WO03035083.
DD181998 - Medicament to treat a fibrotic disease.
Y15912 - Homo sapiens mRNA for chimaeric transcript of collagen type 1 alpha 1 and platelet derived growth factor beta, 201 bp.
Y15914 - Homo sapiens mRNA for chimaeric transcript of collagen type 1 alpha 1 and platelet derived growth factor beta, 202 bp.
Y15915 - Homo sapiens mRNA for chimaeric transcript of collagen type 1 alpha 1 and platelet derived growth factor beta, 1068 bp.
LF327336 - JP 2014500723-A/134839: Polycomb-Associated Non-Coding RNAs.
LF327335 - JP 2014500723-A/134838: Polycomb-Associated Non-Coding RNAs.
M55648 - Human alpha 1 type I collagen (COLIA1) mRNA, exon 43.
LF327334 - JP 2014500723-A/134837: Polycomb-Associated Non-Coding RNAs.
LF327332 - JP 2014500723-A/134835: Polycomb-Associated Non-Coding RNAs.
Y16346 - Homo sapiens chimeric segment: COLA1A exon 40, PDGFB exon 2.
LF327331 - JP 2014500723-A/134834: Polycomb-Associated Non-Coding RNAs.
Y15919 - Homo sapiens mRNA for chimaeric transcript of collagen type 1 alpha 1 and platelet derived growth factor beta, 368 bp.
Y15913 - Homo sapiens mRNA for chimaeric transcript of collagen type 1 alpha 1 and platelet derived growth factor beta, 260 bp.
Y15916 - Homo sapiens mRNA for chimaeric transcript of collagen type 1 alpha 1 and platelet derived growth factor beta, 189 bp.
Y15918 - Homo sapiens mRNA for chimaeric transcript of collagen type 1 alpha 1 and platelet derived growth factor beta, 522 bp.
LF327330 - JP 2014500723-A/134833: Polycomb-Associated Non-Coding RNAs.
X98708 - Homo sapiens mRNA encoding chimaeric transcript of collagen type 1 alpha 1 and platelet derived growth factor beta, 285 bp.
X98707 - Homo sapiens mRNA encoding chimaeric transcript of collagen type 1 alpha 1 and platelet derived growth factor beta, 314 bp.
LF327326 - JP 2014500723-A/134829: Polycomb-Associated Non-Coding RNAs.
Y15917 - Homo sapiens mRNA for chimaeric transcript of collagen type 1 alpha 1 and platelet derived growth factor beta, 350 bp.
M36546 - Human alpha-1 collagen type I mRNA, 5' end.
X07884 - Human mRNA for alpha-1(I) chain of procollagen type I.
LF327324 - JP 2014500723-A/134827: Polycomb-Associated Non-Coding RNAs.
S64717 - COL1A1=type I procollagen alpha 1 chain [human, fibroblasts, mRNA Partial Mutant, 54 nt].
DQ590066 - Homo sapiens piRNA piR-57178, complete sequence.
LF327323 - JP 2014500723-A/134826: Polycomb-Associated Non-Coding RNAs.
LF327322 - JP 2014500723-A/134825: Polycomb-Associated Non-Coding RNAs.
X98710 - H.sapiens mRNA encoding chimaeric transcript of collagen type 1 alpha 1 and platelet derived growth factor beta, 581 bp.
LF327321 - JP 2014500723-A/134824: Polycomb-Associated Non-Coding RNAs.
CU691368 - Synthetic construct Homo sapiens gateway clone IMAGE:100020572 5' read COL1A1 mRNA.
X98709 - Homo sapiens mRNA encoding chimaeric transcript of collagen type 1 alpha 1 and platelet derived growth factor beta, 419 bp.
S83315 - Homo sapiens type I collagen alpha 1(I) chain (COL1A1) mRNA, partial cds.
LF327320 - JP 2014500723-A/134823: Polycomb-Associated Non-Coding RNAs.
LF327319 - JP 2014500723-A/134822: Polycomb-Associated Non-Coding RNAs.
LF327317 - JP 2014500723-A/134820: Polycomb-Associated Non-Coding RNAs.
LF327314 - JP 2014500723-A/134817: Polycomb-Associated Non-Coding RNAs.
JD523971 - Sequence 504995 from Patent EP1572962.
JD239280 - Sequence 220304 from Patent EP1572962.
LF327313 - JP 2014500723-A/134816: Polycomb-Associated Non-Coding RNAs.
MA562939 - JP 2018138019-A/134865: Polycomb-Associated Non-Coding RNAs.
MA562938 - JP 2018138019-A/134864: Polycomb-Associated Non-Coding RNAs.
MA562936 - JP 2018138019-A/134862: Polycomb-Associated Non-Coding RNAs.
MA562935 - JP 2018138019-A/134861: Polycomb-Associated Non-Coding RNAs.
MA562934 - JP 2018138019-A/134860: Polycomb-Associated Non-Coding RNAs.
MA562931 - JP 2018138019-A/134857: Polycomb-Associated Non-Coding RNAs.
MA562929 - JP 2018138019-A/134855: Polycomb-Associated Non-Coding RNAs.
MA562928 - JP 2018138019-A/134854: Polycomb-Associated Non-Coding RNAs.
MA562927 - JP 2018138019-A/134853: Polycomb-Associated Non-Coding RNAs.
MA562926 - JP 2018138019-A/134852: Polycomb-Associated Non-Coding RNAs.
MA562923 - JP 2018138019-A/134849: Polycomb-Associated Non-Coding RNAs.
MA562922 - JP 2018138019-A/134848: Polycomb-Associated Non-Coding RNAs.
MA562920 - JP 2018138019-A/134846: Polycomb-Associated Non-Coding RNAs.
MA562918 - JP 2018138019-A/134844: Polycomb-Associated Non-Coding RNAs.
MA562917 - JP 2018138019-A/134843: Polycomb-Associated Non-Coding RNAs.
MA562915 - JP 2018138019-A/134841: Polycomb-Associated Non-Coding RNAs.
MA562913 - JP 2018138019-A/134839: Polycomb-Associated Non-Coding RNAs.
MA562912 - JP 2018138019-A/134838: Polycomb-Associated Non-Coding RNAs.
MA562911 - JP 2018138019-A/134837: Polycomb-Associated Non-Coding RNAs.
MA562909 - JP 2018138019-A/134835: Polycomb-Associated Non-Coding RNAs.
MA562908 - JP 2018138019-A/134834: Polycomb-Associated Non-Coding RNAs.
MA562907 - JP 2018138019-A/134833: Polycomb-Associated Non-Coding RNAs.
MA562903 - JP 2018138019-A/134829: Polycomb-Associated Non-Coding RNAs.
MA562901 - JP 2018138019-A/134827: Polycomb-Associated Non-Coding RNAs.
MA562900 - JP 2018138019-A/134826: Polycomb-Associated Non-Coding RNAs.
MA562899 - JP 2018138019-A/134825: Polycomb-Associated Non-Coding RNAs.
MA562898 - JP 2018138019-A/134824: Polycomb-Associated Non-Coding RNAs.
MA562897 - JP 2018138019-A/134823: Polycomb-Associated Non-Coding RNAs.
MA562896 - JP 2018138019-A/134822: Polycomb-Associated Non-Coding RNAs.
MA562894 - JP 2018138019-A/134820: Polycomb-Associated Non-Coding RNAs.
MA562891 - JP 2018138019-A/134817: Polycomb-Associated Non-Coding RNAs.
MA562890 - JP 2018138019-A/134816: Polycomb-Associated Non-Coding RNAs.
MA444842 - JP 2018138019-A/16768: Polycomb-Associated Non-Coding RNAs.
MB419115 - JP 2019519516-A/77: MRNA COMBINATION THERAPIES FOR THE TREATMENT OF CANCER.
MB419980 - JP 2019519516-A/942: MRNA COMBINATION THERAPIES FOR THE TREATMENT OF CANCER.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04510 - Focal adhesion
hsa04512 - ECM-receptor interaction

Reactome (by CSHL, EBI, and GO)

Protein P02452 (Reactome details) participates in the following event(s):

R-HSA-2002460 P4HB binds Collagen chains
R-HSA-8944214 Association of procollagen type I
R-HSA-8948230 P3HB binds 4-Hyp-collagen propeptides
R-HSA-1650808 Prolyl 4-hydroxylase converts collagen prolines to 4-hydroxyprolines
R-HSA-1980233 Collagen prolyl 3-hydroxylase converts 4-Hyp collagen to 3,4-Hyp collagen
R-HSA-8948219 PLOD3 binds Lysyl hydroxylated collagen propeptides
R-HSA-8948228 COLGALT1,COLGALT2 bind Lysyl hydroxylated collagen propeptides
R-HSA-2002440 Removal of fibrillar collagen C-propeptides
R-HSA-3221843 MSR1 (SCARA1) binds collagen
R-HSA-2022073 Procollagen triple helix formation
R-HSA-1981104 Procollagen lysyl hydroxylases convert collagen lysines to 5-hydroxylysines
R-HSA-1981120 Galactosylation of collagen propeptide hydroxylysines by procollagen galactosyltransferases 1, 2.
R-HSA-1981128 Galactosylation of collagen propeptide hydroxylysines by PLOD3
R-HSA-1981157 Glucosylation of collagen propeptide hydroxylysines
R-HSA-2002428 Removal of fibrillar collagen N-propeptides
R-HSA-8940973 RUNX2 regulates osteoblast differentiation
R-HSA-8941326 RUNX2 regulates bone development
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-8948216 Collagen chain trimerization
R-HSA-8878166 Transcriptional regulation by RUNX2
R-HSA-1474290 Collagen formation
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-3000480 Scavenging by Class A Receptors
R-HSA-212436 Generic Transcription Pathway
R-HSA-1474244 Extracellular matrix organization
R-HSA-2173782 Binding and Uptake of Ligands by Scavenger Receptors
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-5653656 Vesicle-mediated transport
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: CO1A1_HUMAN, NM_000088, NP_000079, O76045, P02452, P78441, Q13896, Q13902, Q13903, Q14037, Q14992, Q15176, Q15201, Q16050, Q59F64, Q7KZ30, Q7KZ34, Q8IVI5, Q8N473, Q9UML6, Q9UMM7
UCSC ID: uc002iqm.3
RefSeq Accession: NM_000088
Protein: P02452 (aka CO1A1_HUMAN or CA11_HUMAN)
CCDS: CCDS11561.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene COL1A1:
caffey (Caffey Disease)
eds (Classic Ehlers-Danlos Syndrome)
oi (COL1A1/2 Osteogenesis Imperfecta)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_000088.3
exon count: 51CDS single in 3' UTR: no RNA size: 5927
ORF size: 4395CDS single in intron: no Alignment % ID: 99.98
txCdsPredict score: 8813.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.