COL1A1 Gene
protein-coding GIFtS : 74 GCID: GC17 M048260
collagen, type I, alpha 1
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Aliasesfor COL1A1 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Collagen, Type I, Alpha 1 1 2 Collagen Alpha-1(I) Chain2 OI41 2 Collagen Alpha-1(I) Chain Preproprotein2 Alpha-1 Type I Collagen2 3 Collagen Of Skin, Tendon And Bone, Alpha-1 Chain2 Collagen Alpha 1 Chain Type I2 Pro-Alpha-1 Collagen Type 12
Export aliases for COL1A1 gene to outside databases Previous GC identifers: GC17M047864 GC17M050742 GC17M048602 GC17M048736 GC17M045617 GC17M043632
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Summariesfor COL1A1 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for COL1A1 : 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) UniProtKB/Swiss-Prot: CO1A1_HUMAN, P02452 Function : Type I collagen is a member of group I collagen (fibrillar forming collagen)Gene Wiki entry for COL1A1 (Collagen, type I, alpha 1)
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Genomic Viewsfor COL1A1 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,miRBase ,UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000017.10 NC_018928.1 NT_010783.15 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the COL1A1 gene promoter:GR USF1 GR-beta HSF1 (long) GATA-1 AREB6 USF-1 c-Myb HSF1short GR-alpha Other transcription factors Search SABiosciences Chromatin IP Primers for COL1A1 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human mouse rat
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 17q21.33 Ensembl cytogenetic band: 17q21.33 HGNC cytogenetic band: 17q21.33 COL1A1 Gene in genomic location: bands according to Ensembl, locations according to
Entrez Gene Ensembl GeneLoc information about chromosome 17 GeneLoc Exon Structure
GeneLoc location for GC17M048260: view genomic region
(about GC identifiers )
Start: 48,260,650 bp from pter End:
48,279,000 bp from pter
Size: 18,351 bases Orientation:
minus strand
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Proteinsfor COL1A1 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: CO1A1_HUMAN, P02452 See
protein sequence )Recommended Name: Size : 1464 amino acids; 138941 DaSubunit : Trimers of one alpha 2(I) and two alpha 1(I) chains. Interacts with MRC2 (By similarity). Interacts with TRAM2Subcellular location : Secreted, extracellular space, extracellular matrix (By similarity)Sequence caution : Sequence=BAD92834.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;4 PDB 3D structures from :1Q7D (3D) 2LLP (3D) 3EJH (3D) 3GXE (3D) Secondary accessions : O76045 P78441 Q13896 Q13902 Q13903 Q14037 Q14992 Q15176 Q15201 Q16050 Q59F64Q7KZ30 Q7KZ34 Q8IVI5 Q8N473 Q9UML6 Q9UMM7 Explore the universe of human proteins at neXtProt for COL1A1: NX_P02452 Post-translational modifications:
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 chains1
O-linked glycan consists of a Glc-Gal disaccharide bound to the oxygen atom of a post-translationally added hydroxyl group1
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P02452 COL1A1 Protein expression data from MOPED and PaxDb : About this image REFSEQ proteins: NP_000079.2 ENSEMBL proteins: ENSP00000225964 ENSP00000460459 Reactome Protein details: P02452 Human Recombinant Protein Products: Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8 ): About this table
About GeneDecksing COL1A1 Antibody Products: Assay Products for COL1A1:
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Protein
Domains /for COL1A1 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section About GeneDecksing 3 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry P02452 ProtoNet protein and cluster: P02452
4 Blocks protein families : IPB000885 IPB001007 IPB008160 IPB008161 UniProtKB/Swiss-Prot: CO1A1_HUMAN, P02452 Domain : The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair bycontrolling 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) Similarity : Belongs to the fibrillar collagen familySimilarity : Contains 1 fibrillar collagen NC1 domainSimilarity : Contains 1 VWFC domain
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Functionfor COL1A1 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: CO1A1_HUMAN, P02452 Function : Type I collagen is a member of group I collagen (fibrillar forming collagen)
Genatlas biochemistry entry for COL1A1 collagen type I,alpha 1,fibril forming,putative downregulated c-Myc target gene, Clone Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat see all 3 )human mouse rat OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: COL1A1 (NM_000088 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for COL1A1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat COL1A1
Cell Line GenScript Custom overexpressing Cell Line Services for COL1A1 LifeMap BioReagents: cell lines associated with COL1A1: Osteogenic Package SK11 ,Osteogenic Package SM30 , PureStem 7PEND24, NCr-fac & Meso-prx Progenitor , PureStem 7SMOO32, NCr-fac & Meso Progenitor ,PureStem E15, Meso-prx/latp Progenitor , PureStem MEL2, NCr-fac Progenitor , PureStem SK11, NCr-fac & Meso-prx Progenitor
In Situ AssayAdvanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL1A1
Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view) : About this table
About GeneDecksing 2 GenomeRNAi human phenotypes for COL1A1 :Animal Models: Col1a1 tm2.1Bst Col1a1 tm1Bst Col1a1 tm1Dab Col1a1 tm2Bst 15/27 MGI mutant phenotypes (inferred from 47 alleles(MGI details for Col1a1) (see all 27 ):About GeneDecksing
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Pathways & Interactionsfor COL1A1 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways - 5/30 super-pathways (see all 30 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Cell adhesion_Integrin-mediated cell adhesion and migration 2 Integrin Pathway 3 Collagen formation 4 Rho Family GTPases 5 Formation of collagen fibres
Pathway sources See GeneCards unified pathways Show all pathways 5/9 (see all 9 )5/15 (see all 15 )5/8 (see all 8 )5/6 (see all 6 ) 5/22 (see all 22 )1 COL1A1 4 (Kegg details for COL1A1) :About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for COL1A1 STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/109 Interacting proteins for COL1A1 (P02452 2 , 3 ENSP00000225964 4 via UniProtKB, MINT, STRING , and/or I2D (see all 109 )About this table Gene Ontology (GO): 5/43 biological process terms (GO ID links to tree view) (see all 43 ): About this table
About GeneDecksing
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Drugs & Compoundsfor COL1A1 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section About GeneDecksing Browse Tocris compounds for COL1A1 1 HMDB Compound for COL1A1 About this table 1 DrugBank Compound for COL1A1 About this table 10/34 Novoseek chemical compound relationships for COL1A1 gene (see all 34 ) About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
procollagen
67.1
3
8418862 (1), 15727634 (1), 9076960 (1)
vitamin d
58.9
37
16159929 (2), 17028393 (1), 12916320 (1), 12879219 (1) (see all 28 )
nppa
54.6
3
15582321 (2), 14993121 (1)
rsai
50.7
7
10928224 (1), 12879219 (1), 1982109 (1), 12491092 (1) (see all 5 )
hydroxylysine
49.9
1
10329027 (1)
imatinib
44.1
1
17195235 (1)
apai
39.2
3
16261459 (1), 20015871 (1)
mspi
36.6
4
10928224 (1), 1982109 (1), 11208313 (1)
xbai
27.2
3
12879219 (1), 20015871 (1), 11420783 (1)
bleomycin
24.7
3
16187293 (2), 17387717 (1)
COL1A1 / CO1A1
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Transcriptsfor COL1A1 gene (Secondary structures according to
fRNAdb ,Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC , GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,EMD Millipore ,
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for COL1A1 gene: NM_000088.3 Unigene Clusters for COL1A1:
Collagen, type I, alpha 1 Hs.172928 [show with all ESTs ] , Hs.681002 [show with all ESTs ] Unigene Representative Sequences: Z74615 , BG113870 13 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000225964 (uc002iqm.3 ) ENST00000510710 ENST00000486572 ENST00000511732 ENST00000494334 ENST00000476387 ENST00000504289 ENST00000463440 ENST00000471344 ENST00000485870 ENST00000495677 ENST00000474644 ENST00000507689 Clone OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat see all 3 )human mouse rat OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: COL1A1 (NM_000088 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for COL1A1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat COL1A1
Additional cDNA sequence: AB032018.1 M32798.1
24/98 DOTS entries (see all 98 ): DT.102841307 DT.95105014
DT.87077250 DT.95077068 DT.100662609 DT.100662592 DT.92404389 DT.95171216 DT.91808350 DT.95123444 DT.95353801 DT.95301324 DT.100788832 DT.92476449 DT.95171185 DT.102841298 DT.120952850 DT.100775390 DT.100748130 DT.100799297 DT.120952797 DT.120953079 DT.120952848 DT.100647432 24/2025 AceView cDNA sequences (see all 2025 ):
AI446503 CA427579 AI858414 BX281652 BG939313 AI700591 CA421516 AA359532 CN482266 CN482277 AI753856 AW067809 AI753476 CA414007 BU850092 AA366294 AA375308 BQ028966 CA426939 AW069217 AI347145 CN482075 BI494863 BU618113 GeneLoc Exon Structure 5/12 Alternative Splicing Database (ASD) splice patterns (SP) for COL1A1 (see all 12 ) About this scheme ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ SP1 : SP2 : - SP3 : SP4 : SP5 : - - - - - - - - - - - - - - - - - - - - -
ExUns: 19a · 19b ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39a · 39b ^ 40 ^ 41 ^ SP1 : SP2 : SP3 : SP4 : SP5 : -
ExUns: 42 ^ 43 ^ 44 ^ 45a · 45b ^ 46a · 46b ^ 47 ^ 48a · 48b ^ 49a · 49b SP1 : SP2 : SP3 : SP4 : SP5 :
ECgene alternative splicing isoforms for COL1A1
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Expression for COL1A1 gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section COL1A1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: ACCAAAAACC
About this image COL1A1 expression in embryonic tissues and stem cells About this table See COL1A1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for COL1A1 SOURCE GeneReport for Unigene clusters: Hs.172928 Hs.681002 UniProtKB/Swiss-Prot: CO1A1_HUMAN, P02452 Tissue specificity : Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calciumhydroxyapatite SABiosciences Expression via Pathway-Focused PCR Arrays including COL1A1 (see all 12 ): Primer OriGene genome-wide validated SYBR primer pairs in human mouse rat Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat In Situ Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL1A1
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Orthologsfor COL1A1 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section Orthologs for COL1A1 gene from 4/14 species (see all 14 ) About this table
Organism
Taxonomic
Gene
Description
Human
Orthology
Details
lizard Reptilia COL1A16
--
88(a)
1 ↔ 1
6(77525342-77567795)
African clawed frog Amphibia col1a1-prov2
collagen, type I, alpha 1
79.21(n)
BC049829.1
zebrafish Actinopterygii col1a12
collagen, type I, alpha 1
79.27(n)
337158 BC063249.1
honey bee Insecta --
--
46(a)
1 → many
GroupUn.493(29585-38789)
ENSEMBL Gene Tree for COL1A1 (if available)TreeFam Gene Tree for COL1A1 (if available)
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Paralogsfor COL1A1 gene (Paralogs according to
1 HomoloGene ,2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for COL1A1 gene COL4A6 2 COL19A1 2 COL11A2 2 COL4A5 2 COL24A1 2 COL4A4 2 COL5A3 2 COL16A1 2 COL4A2 2 COL5A2 2 COL5A1 2 COL4A3 2 COL22A1 2 COL1A2 2 COL7A1 2 COL27A1 2 COL3A1 2 COL2A1 2 COL4A1 2 COL11A1 2 18/22 SIMAP similar genes for COL1A1 using alignment to 11 protein entries: CO1A1_HUMAN (see all proteins )
(see all similar genes ):COL2A1 COL1A2 DKFZp434L081 ECM2 COL6A2 COL5A2 COL3A1 MSR1 COL7A1 EMID1 C1QB COL5A1 COL6A1 COL11A1 SFTPD COL14A1 FCN2 COL24A1 About GeneDecksing
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Genomic Variantsfor COL1A1 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical Chr 17 pos Sequence # AA Type More # Allele Pop Total More
HapMap Linkage Disequilibrium report for COL1A1 (48260650 - 48279000 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 2 variations for COL1A1 2 CNVs 77657 88525 Human Gene Mutation Database (HGMD) : COL1A1 Locus Specific Mutation Databases (LSDB): COL1A1 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human mouse rat
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Disorders
/ Diseasesfor COL1A1 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section About GeneDecksing OMIM gene information: 120150 OMIM disorders : 166200 166210 259420 166220 130000 130060 166710 114000 UniProtKB/Swiss-Prot: CO1A1_HUMAN, P02452 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 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 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 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 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 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 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 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 Note=A chromosomal aberration involving COL1A1 is found in dermatofibrosarcoma protuberans. Translocation t(17;22)(q22;q13) with PDGF 20/110 (see all 110 ): About MalaCards ehlers-danlos syndrome ehlers-danlos syndrome type viia osteogenesis imperfecta osteogenesis imperfecta type i dermatofibrosarcoma protuberans caffey disease dermatofibrosarcoma osteoporosis osteogenesis imperfecta, type ii epidermolysis bullosa inversa osteogenesis imperfecta type iii giant-cell fibroblastoma osteogenesis imperfecta type 4 dentinogenesis imperfecta frozen shoulder epidermolysis bullosa lumbar disc disease osteopenia/osteoporosis talipes equinovarus osteoporosis, postmenopausal 7 diseases from the University of Copenhagen DISEASES database for COL1A1 :Osteogenesis imperfecta Dermatofibrosarcoma Caffey disease Osteoporosis Dentinogenesis imperfecta Ehlers-Danlos syndrome Otosclerosis 10/36 Novoseek disease relationships for COL1A1 gene (see all 36 ) About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
osteogenesis imperfecta
94.7
89
1967900 (2), 9752968 (2), 15241796 (2), 2220807 (2) (see all 76 )
oi, type i
93.9
55
8544188 (4), 10521849 (4), 11860074 (4), 18755172 (3) (see all 26 )
osteogenesis imperfecta, type ii
91.2
8
18996919 (1), 1460046 (1), 7487936 (1), 17508636 (1) (see all 7 )
oi, type iv
88.3
2
11208313 (1), 11286811 (1)
oi, type iii
87.4
8
8100856 (2), 9240878 (1), 19283684 (1), 7789952 (1) (see all 6 )
dermatofibrosarcoma protuberans
85.5
18
12786837 (2), 16040406 (2), 20133221 (1), 16681596 (1) (see all 12 )
dentinogenesis imperfecta
80.3
1
11286811 (1)
ehlers-danlos syndrome, type i
75.1
2
1684560 (1), 17118335 (1)
caffey disease
73.9
4
18704262 (1), 15864348 (1)
ehlers-danlos syndrome
72.2
8
1990839 (1), 1867198 (1), 16816023 (1), 18272325 (1) (see all 8 )
GeneTests: COL1A1 COL1A1/2-Related Osteogenesis Imperfecta Genetic Association Database (GAD): COL1A1 Human Genome Epidemiology (HuGE) Navigator: COL1A1 (153 documents) Export disorders for COL1A1 gene to outside databases
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Publicationsfor COL1A1 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for COL1A1 gene, integrated from 9 sources (see all 815 ):(articles sorted by number of sources associating them with COL1A1) Utopia : connect your pdf to the dynamic
Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene. (PubMed id 8841196) 1 , 2 , 4, 9(1996) Interaction of collagen-related genes and susceptibility to betel quid-induced oral submucous fibrosis. (PubMed id 12101112) 1 , 4, 7(2002) Structure of a full-length cDNA clone for the prepro alpha 1(I) chain of human type I procollagen. (PubMed id 3178743) 1 , 2 , 3(1988) Fine structural analysis of the human pro-alpha 1 (I) collagen gene. Promoter structure, AluI repeats, and polymorphic transcripts. (PubMed id 2857713) 1 , 2 , 3(1985) Association between bone mineral density and polymorphisms of the VDR, ERalpha, COL1A1 and CTR genes in Spanish postmenopausal women. (PubMed id 15966503) 1 , 4, 9(2005) Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. (PubMed id 15241796) 1 , 4, 9(2004) Association of a COL1A1 polymorphism with lumbar disc disease in young military recruits. (PubMed id 15994869) 1 , 4, 9(2005) Proposed association between the COL1A1 and COL1A2 genes and otosclerosis is not supported by a case-control study in Spain. (PubMed id 15211650) 1 , 4, 9(2004) Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. (PubMed id 18996919) 1 , 2 , 9(2009) Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients. (PubMed id 17875077) 1 , 2 , 9(2007)
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and/or
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Specialized Databases showing COL1A1 gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description PharmGKB entry for COL1A1 Pharmacogenomics, SNPs, Pathways ATLAS Chromosomes in Cancer entry for COL1A1Genetics and Cytogenetics in Oncology and Haematology Osteogenesis imperfecta variant database http://oi.gene.le.ac.uk/home.php?select_db=COL1A1 GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL1A1 Wikipedia http://en.wikipedia.org/wiki/Type-I_collagen
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About This Section Patent Information for COL1A1 gene: COL1A1 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor COL1A1 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
OriGene Antibodies for COL1A1 OriGene shRNA RFP for COL1A1 OriGene 29mer shRNA kits in GFP-retroviral vector in human mouse rat OriGene genome-wide validated SYBR primer pairs in human mouse rat OriGene Protein Over-expression Lysate for COL1A1 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for COL1A1 OriGene 3'-UTR Clone for COL1A1 OriGene untagged cDNA clones in CMV expression vector in human mouse rat OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for COL1A1 OriGene Custom Protein Services for COL1A1 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat COL1A1 QIAGEN SeqTarget long-range PCR primers in human mouse rat QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human mouse rat QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat
Search Tocris compounds for COL1A1
Recombinant Protein for COL1A1
Cell Lines associated with COL1A1: Osteogenic Package SK11 ,Osteogenic Package SM30 , PureStem 7PEND24, NCr-fac & Meso-prx Progenitor , PureStem 7SMOO32, NCr-fac & Meso Progenitor ,PureStem E15, Meso-prx/latp Progenitor , PureStem MEL2, NCr-fac Progenitor , PureStem SK11, NCr-fac & Meso-prx Progenitor
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL1A1
ThermoFisher Antibodies for COL1A1
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat COL1A1
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