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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

COL1A1 Gene

protein-coding GIFtS: 74
GCID: GC17M048260

collagen, type I, alpha 1

Explore 110 diseases affiliated with
COL1A1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Collagen, Type I, Alpha 1¹ 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

External Ids:	HGNC: 2197¹	Entrez Gene: 1277²	Ensembl: ENSG00000108821⁷	OMIM: 120150⁵	UniProtKB: P02452³

Export aliases for COL1A1 gene to outside databases

Previous GC identifers: GC17M047864 GC17M050742 GC17M048602 GC17M048736 GC17M045617 GC17M043632

(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)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to 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

SwitchGear Promoter luciferase reporter plasmid: COL1A1 promoter sequence

Search SABiosciences Chromatin IP Primers for COL1A1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL1A1

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 (and/or Entrez Gene and/or Ensembl if different)
COL1A1 gene location

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

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, 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,
Biochemical Assays by 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: Collagen alpha-1(I) chain precursor

Size: 1464 amino acids; 138941 Da

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)

Sequence caution: Sequence=BAD92834.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

4 PDB 3D structures from and Proteopedia for COL1A1:

1Q7D (3D)

2LLP (3D)

3EJH (3D)

3GXE (3D)

Secondary accessions: O76045 P78441 Q13896 Q13902 Q13903 Q14037 Q14992 Q15176 Q15201 Q16050 Q59F64

Q7KZ30 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 PhosphoSitePlus²

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 for COL1A1:

	EMD Millipore Purified and/or Recombinant COL1A1 Protein
	R&D Systems Recombinant & Natural Proteins for COL1A1 (Collagen I alpha 1)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate: COL1A1 OriGene Custom Protein Services for COL1A1
	GenScript Custom Purified and Recombinant Proteins Services for COL1A1
	Novus Biologicals COL1A1 Proteins Novus Biologicals COL1A1 Lysate
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for COL1A1
	Browse Proteins at Uscn

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005578	proteinaceous extracellular matrix	--	--
GO:0005581	collagen	--	--
GO:0005584	collagen type I	IMP	14976317
GO:0005615	extracellular space	IDA	--

COL1A1 for ontologies About GeneDecksing

COL1A1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of COL1A1
	R&D Systems Antibodies for COL1A1 (Collagen I alpha 1)
	OriGene Antibodies (see all 2): COL1A1 OriGene Custom Antibody Services for COL1A1
	GenScript Custom Superior Antibodies Services for COL1A1
	Novus Biologicals COL1A1 Antibodies
	Abcam antibodies for COL1A1
	Browse Antibodies at Uscn
	ThermoFisher Antibodies for COL1A1

Assay Products for COL1A1:

	EMD Millipore Kits and Assays for the Analysis of COL1A1
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for COL1A1
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

COL1A1 for domains About GeneDecksing

3 InterPro domains/families:

IPR000885 Fib_collagen_C

IPR001007 VWF_C

IPR008160 Collagen

Graphical View of Domain Structure for InterPro Entry P02452

ProtoNet protein and cluster: P02452

4 Blocks protein families:

IPB000885 Fibrillar collagen

IPB001007 von Willebrand factor

IPB008160 Collagen triple helix repeat

IPB008161 Collagen helix repeat

UniProtKB/Swiss-Prot: CO1A1_HUMAN, P02452

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)

Similarity: Belongs to the fibrillar collagen family

Similarity: Contains 1 fibrillar collagen NC1 domain

Similarity: Contains 1 VWFC domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: 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,

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005201	extracellular matrix structural constituent	IEA	--
GO:0005515	protein binding	IPI	14749390
GO:0042802	identical protein binding	IDA	17211858
GO:0046872	metal ion binding	IEA	--
GO:0048407	platelet-derived growth factor binding	IDA	8900172

COL1A1 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for COL1A1:

Decreased G3BP1 protein expres

Synthetic lethal with Ras

15/27 MGI mutant phenotypes (inferred from 47 alleles) (MGI details for Col1a1) (see all 27):

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial
digestive/alimentary	embryogenesis	endocrine/exocrine gland	growth/size	hearing/vestibular/ear
hematopoietic system	homeostasis/metabolism	immune system	integument	limbs/digits/tail

COL1A1 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for COL1A1: Col1a1^tm2.1Bst Col1a1^tm1Bst Col1a1^tm1Dab Col1a1^tm2Bst

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for COL1A1

miRNA Products:		miRTarBase miRNAs that target COL1A1: hsa-mir-29c (MIRT000928), hsa-mir-29b (MIRT000100), hsa-mir-143 (MIRT004242)

		OriGene 3'-UTR Clone: COL1A1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL1A1
		8/54 QIAGEN miScript miRNA Assays for microRNAs that regulate COL1A1 (see all 54):
		hsa-let-7d hsa-miR-1224-3p hsa-miR-1260b hsa-miR-29a hsa-miR-371-5p hsa-miR-218 hsa-let-7g hsa-let-7a

		SwitchGear 3'UTR luciferase reporter plasmid: COL1A1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COL1A1 (see all 7) OriGene shRNA RFP: COL1A1 OriGene siRNA: COL1A1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL1A1
		Sirion Biotech Custom design and validation of potent shRNA sequences against COL1A1

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for COL1A1
			Sirion Biotech Customized adenovirus for overexpression of COL1A1 Sirion Biotech Customized adenovirus for potent knockdown of COL1A1

Clone Products:		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 for COL1A1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COL1A1 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 Products:		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
		Sirion Biotech Customized stable knockdown cell line services for COL1A1 Sirion Biotech Customized inducible knockdown cell line services for COL1A1 Sirion Biotech Customized stable overexpressing cell line services for COL1A1 Sirion Biotech Customized inducible overexpressing cell line services for COL1A1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL1A1

(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 ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, 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

Cell adhesion_Integrin-mediated cell adhesion and migration

Cell adhesion_Integrin-mediated cell adhesion and migration	1.00	Cytoskeleton remodeling Integrin outside-in signaling	0.37
Cell adhesion Integrin-mediated cell adhesion and migration	1.00	Cell adhesion_Endothelial cell contacts by non-junctional mechanisms	0.21
Cytoskeleton remodeling_Integrin outside-in signaling	0.37	Cell adhesion Endothelial cell contacts by non-junctional mechanisms	0.21

Integrin Pathway

Integrin Pathway	1.00	UPA-UPAR Pathway	0.51
FAK1 Signaling	0.67	Transendothelial Migration of Leukocytes	0.38
GnRH Signaling	0.56	Inhibition of Angiogenesis by TSP1	0.37

Collagen formation

Collagen formation	1.00	Extracellular matrix organization	0.54
Collagen biosynthesis and modifying enzymes	0.74	Secretion of collagens	0.49
Assembly of collagen fibrils and other multimeric structures	0.65

Rho Family GTPases

Rho Family GTPases	1.00	MAPK Signaling	0.51
ERK Signaling	0.61	ILK Signaling	0.45
Molecular Mechanisms of Cancer	0.51

Formation of collagen fibres

	Formation of collagen fibrils	1.00			Type XII and XIV collagens associate with type I and type II fibrils.	0.45
	Formation of collagen fibres	1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

5/9 EMD Millipore Pathways for COL1A1 (see all 9)

	Development Hedgehog and PTH signaling pathways in bone and cartilage development
	Cell adhesion Integrin-mediated cell adhesion and migration
	Cytoskeleton remodeling Integrin outside-in signaling
	Transcription Role of VDR in regulation of genes involved in osteoporosis
	Cell adhesion ECM remodeling

5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL1A1 (see all 15)

	MAPK Signaling
	Molecular Mechanisms of Cancer
	PTEN Pathway
	Transendothelial Migration of Leukocytes
	UPA-UPAR Pathway

5/8 GeneGo (Thomson Reuters) Pathways for COL1A1 (see all 8)

	Development Hedgehog and PTH signaling pathways in bone and cartilage development
	Development Endothelin-1/EDNRA transactivation of EGFR
	Cell adhesion Integrin inside-out signaling
	Transcription Role of VDR in regulation of genes involved in osteoporosis
	Cell adhesion Endothelial cell contacts by non-junctional mechanisms

5/6 BioSystems Pathways for COL1A1 (see all 6)

	Senescence and Autophagy
	Focal Adhesion
	VEGFR3 signaling in lymphatic endothelium
	Inflammatory Response Pathway
	Osteoblast Signaling

5/22 Reactome Pathways for COL1A1 (see all 22)

	Formation of collagen fibrils
	Assembly of collagen fibrils and other multimeric structures
	Type XII and XIV collagens associate with type I and type II fibrils.
	GPVI stimulates PI3K beta, gamma
	Gelatin degradation by MMP19

1 PharmGKB Pathway for COL1A1

Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

4 Kegg Pathways (Kegg details for COL1A1):

	Focal adhesion
	ECM-receptor interaction
	Protein digestion and absorption
	Amoebiasis

COL1A1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM 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} ENSP00000225964⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 109)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
COCH	O43405²^,³, ENSP00000216361⁴	MINT-6796048 I2D: score=1 STRING: ENSP00000216361
CAPN1	P07384³, ENSP00000279247⁴	I2D: score=3 STRING: ENSP00000279247
SPARC	P09486³, ENSP00000231061⁴	I2D: score=3 STRING: ENSP00000231061
TXN	P10599³, ENSP00000363641⁴	I2D: score=3 STRING: ENSP00000363641
VWF	P04275³, ENSP00000261405⁴	I2D: score=3 STRING: ENSP00000261405

About this table

Gene Ontology (GO): 5/43 biological process terms (GO ID links to tree view) (see all 43): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001501	skeletal system development	IMP	8097422
GO:0001503	ossification	--	--
GO:0001568	blood vessel development	IMP	17211858
GO:0001649	osteoblast differentiation	IEA	--
GO:0001957	intramembranous ossification	IEA	--

COL1A1 for ontologies About GeneDecksing

(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

COL1A1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for COL1A1

1 HMDB Compound for COL1A1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

1 DrugBank Compound for COL1A1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Collagenase	--	9001-12-1	target	--	12855673 17440987 12535212 15659034 12101112

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)

Search CenterWatch for drugs/clinical trials and news about COL1A1 / CO1A1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from 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

miRNA Products:		OriGene 3'-UTR Clone: COL1A1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL1A1
		8/54 QIAGEN miScript miRNA Assays for microRNAs that regulate COL1A1 (see all 54):
		hsa-let-7d hsa-miR-1224-3p hsa-miR-1260b hsa-miR-29a hsa-miR-371-5p hsa-miR-218 hsa-let-7g hsa-let-7a

		SwitchGear 3'UTR luciferase reporter plasmid: COL1A1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COL1A1 (see all 7) OriGene shRNA RFP: COL1A1 OriGene siRNA: COL1A1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL1A1
		Sirion Biotech Custom design and validation of potent shRNA sequences against COL1A1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COL1A1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COL1A1 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

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COL1A1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat COL1A1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COL1A1
		QIAGEN QuantiFast Probe-based Assays in 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

(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,
PCR Arrays from 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 imageBioGPS
CGAP TAG: ACCAAAAACC

About this image

COL1A1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/49 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 49)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Autopod Periosteum

Endochondral Osteoblasts

Selective marker (cell-identifying gene)

Bone

Autopod Periosteum

Immature Endochondral Osteoblasts

Bone

Caudal Endochondral Bones

Endochondral Osteoblasts

Bone

Caudal Endochondral Bones

Endochondral Preosteoblasts

Bone

Cervical Vertebrae

Endochondral Osteoblasts

Bone

Cervical Vertebrae

Immature Endochondral Osteoblasts

Bone

Endochondral Facial Bones

Endochondral Osteoblasts

Bone

Endochondral Facial Bones

Endochondral Preosteoblasts

Bone

Facial Sutures

Facial Fusing Suture Cells

Bone

Lumbar Vertebrae

Endochondral Osteoblasts

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 10/17 LifeMap Cells (see all 17)

Name

Category

PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)

Lateral Plate Mesoderm, Neural Crest

PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

Pelleted mesenchymal stem cells (Chondrogenic differe...)

Single-cell constructs (Generation of fibroc...)

Cartilage

Embryoid body constructs (Generation of fibroc...)

Cartilage

TGF?3- and IGF1-induced embryoid bodies (Generation of fibroc...)

Cartilage

Embryoid body constructs (Generation of fibroc...)

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 calcium

hydroxyapatite

SABiosciences Expression via Pathway-Focused PCR Arrays including COL1A1 (see all 12):

Osteogenesis in human mouse rat

G-Protein-Coupled Receptor Signaling PathwayFinder in human mouse rat

Extracellular Matrix & Adhesion Molecules in human mouse rat

Cell Surface Markers in human mouse rat

TGFB/BMP Signaling Pathway in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COL1A1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat COL1A1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COL1A1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL1A1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL1A1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for COL1A1 gene from 4/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	COL1A1⁶	--	88(a)	1 ↔ 1	6(77525342-77567795)
African clawed frog (Xenopus laevis)	Amphibia	col1a1-prov²	collagen, type I, alpha 1	79.21(n)		BC049829.1
zebrafish (Danio rerio)	Actinopterygii	col1a1²	collagen, type I, alpha 1	79.27(n)		337158 BC063249.1
honey bee (Apis mellifera)	Insecta	--	--	46(a)	1 → many	GroupUn.493(29585-38789)

ENSEMBL Gene Tree for COL1A1 (if available)
TreeFam Gene Tree for COL1A1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for COL1A1 gene

COL4A6² COL19A1² COL11A2² COL4A5² COL24A1² COL4A4² COL5A3² COL16A1²

COL4A2² COL5A2² COL5A1² COL4A3² COL22A1² COL1A2² COL7A1² COL27A1²

COL3A1² COL2A1² COL4A1² COL11A1²

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

COL1A1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, 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

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs73987448^1,2	C,F	non-pathogenic	43643767(+)	`GGAGTA/GTGAAT`	1	--	int¹		5		WA CSA EU	1397
rs72656343^1,2	C	pathogenic	43632227(-)	`AACTGG/TTACAT`	2	W C	mis¹		0	--	--	--	--
rs72656334^1,2	C	pathogenic	43632712(-)	`GCGCTG/TGTTTC`	2	G C	mis¹		0	--	--	--	--
rs72656332^1,2	C	pathogenic	43632736(-)	`CTCCTA/GGTCCC`	2	S G	mis¹		0	--	--	--	--
rs72656331^1,2	C	pathogenic	43632744(-)	`TCCTGG/TACCTC`	2	G V	mis¹		0	--	--	--	--
rs72656330^1,2	C	pathogenic	43632754(-)	`CCCCCA/GGCCCT`	2	S G	mis¹		0	--	--	--	--
rs72656324^1,2	C	pathogenic	43632891(-)	`CCCCTG/TGTCCT`	2	G C	mis¹		0	--	--	--	--
rs72656321^1,2	C	pathogenic	43632935(-)	`TCCTGG/TCAAAG`	2	G V	mis¹		0	--	--	--	--
rs72656314^1,2	C	pathogenic	43633327(-)	`GTCCCC/TGAGTA`	2	R *	stg¹		0	--	--	--	--
rs72656306^1,2	C	pathogenic	43633815(-)	`CCCAAA/GGCCCC`	2	S G	mis¹		0	--	--	--	--

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 for resequencing COL1A1

DNA2.0 Custom Variant and Variant Library Synthesis for COL1A1

(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

COL1A1 for disorders           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 diseases for COL1A1 (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

Genetic Association Database (GAD): COL1A1
Human Genome Epidemiology (HuGE) Navigator: COL1A1 (153 documents)

Export disorders for COL1A1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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
world of online information

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} Grant S.F.A.... Ralston S.H. (1996)
Interaction of collagen-related genes and susceptibility to betel quid-induced oral submucous fibrosis. (PubMed id 12101112)^{1, 4, 7} Chiu C.J....Chen C.J. (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} Tromp G.... Prockup D.J. (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} Chu M.L....Ramirez F. (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} Bandres E....Garcia-Foncillas J. (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} Hartikka H....Ala-Kokko L. (2004)
Association of a COL1A1 polymorphism with lumbar disc disease in young military recruits. (PubMed id 15994869)^{1, 4, 9} Tilkeridis C....Stratakis C.A. (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} Rodriguez L....Zapata C. (2004)
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. (PubMed id 18996919)^{1, 2, 9} Bodian D.L....Klein T.E. (2009)
Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients. (PubMed id 17875077)^{1, 2, 9} Kataoka K....Tanaka H. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1277	HGNC: 2197	AceView: COL1A1	Ensembl:ENSG00000108821	euGenes: HUgn1277
ECgene: COL1A1	Kegg: 1277	H-InvDB: COL1A1

(According to HUGE)
About This Section

(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 COL1A1	Genetics 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

Intellectual Property for COL1A1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for COL1A1 gene:
Search GeneIP for patents involving COL1A1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory)
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Cell Lines associated with COL1A1: Osteogenic Package SK11,
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COL1A1 Gene

collagen, type I, alpha 1

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skin tumor
Collagen Diseases
Pulmonary Fibrosis
Rieger syndrome
Genetic Susceptibility
Herpes Simplex
Otosclerosis
Dentinogenesis Imperfecta
LUMBAR DISC DISEASE
Osteoarthritis
Fractures Pathological
Osteoporosis
EHLERS-DANLOS SYNDROME, TYPE I
Hyperostosis
OI, TYPE IV
Cancer
COL1A1/2-Related Osteogenesis Imperfecta
Ehlers-Danlos Syndrome
Myopia
Connective Tissue Diseases
bone loss
CAFFEY DISEASE
Scar
Osteoporosis Postmenopausal
Inflammation
OI, TYPE III
Idiopathic osteoporosis
OSTEOGENESIS IMPERFECTA, TYPE II
Pulmonary Disease Chronic Obstructive
OI, TYPE I
Osteogenesis Imperfecta
Tumors
DERMATOFIBROSARCOMA PROTUBERANS
Gingival Overgrowth
Necrosis
genetic disorder
Sclerosis Systemic

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COL1A1 Gene

collagen, type I, alpha 1

Aliasesfor COL1A1 gene

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Proteinsfor COL1A1 gene

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Functionfor COL1A1 gene

Pathways & Interactionsfor COL1A1 gene

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Transcriptsfor COL1A1 gene

Expression for COL1A1 gene

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Aliases
for COL1A1 gene

Summaries
for COL1A1 gene

Genomic Views
for COL1A1 gene

Proteins
for COL1A1 gene

Protein Domains /
Families
for COL1A1 gene

Function
for COL1A1 gene

Pathways & Interactions
for COL1A1 gene

Drugs & Compounds
for COL1A1 gene

Transcripts
for COL1A1 gene

Expression
for COL1A1 gene

Orthologs
for COL1A1 gene

Paralogs
for COL1A1 gene

Genomic Variants
for COL1A1 gene

Disorders / Diseases
for COL1A1 gene

Publications
for COL1A1 gene

Intellectual Property
for COL1A1 gene

Products
for COL1A1 gene