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COL1A1 Gene

protein-coding GIFtS: 69

GC17M048260

collagen, type I, alpha 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases & Descriptions
collagen, type I, alpha 1¹ ²		collagen alpha 1 chain type I²
OI4¹ ²		pro-alpha-1 collagen type 1²
Alpha-1 type I collagen² ³		collagen alpha-1(I) chain²
collagen of skin, tendon and bone, alpha-1 chain²

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

Search outside databases for aliases for COL1A1 gene

Previous GC identifers: GC17M047864 GC17M050742 GC17M048602 GC17M048736 GC17M045617

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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)

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 and Ensembl (release 56), Regulatory elements and Epigenetics data according to SABiosciences)
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Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the COL1A1 gene upstream (promoter) region

:
Egr-1 GR-alpha GR-beta TBP GCNF-2 GCNF-1 Bach2 E47 Tal-1beta AREB6

Epigenetics:

SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for COL1A1:

MePH22299-1A

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)

GeneLoc gene densities for 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

RefSeq DNA sequence:

NC_000017.10 NT_010783.15

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene, Novus Biologicals, and/or Sino Biological,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 May 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abnova, OriGene, Novus Biologicals, and/or Epitomics)
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UniProtKB/Swiss-Prot: CO1A1_HUMAN, P02452 (See protein sequence)

Recommended Name: Collagen alpha-1(I) chain precursor

Size: 1464 amino acids; 138911 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;

PDB structure from and Proteopedia :

1Q7D (3D)

3EJH (3D)

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

Q7KZ30 Q7KZ34 Q8IVI5 Q8N473 Q9UML6 Q9UMM7

Post-translational modifications:

Proline residues at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the

chains. Proline residues at the second position of the tripeptide repeating unit (G-X-Y) 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 phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000079.2

ENSEMBL proteins:

ENSP00000225964

Human Recombinant Proteins

	Millipore Purified and/or Recombinant COL1A1 Protein
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	HuPro® and/or Recombinant Proteins from Abnova for COL1A1
	Browse Origene full length recombinant human proteins expressed in human HEK293 cells
	Novus Biologicals Protein for COL1A1
	Browse Sino Biological Recombinant Proteins

5 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	EXP	1715582 1939645 3872140 9028946 9295288 10778855
GO:0005581	collagen	IEA	--
GO:0005584	collagen type I	IMP	14976317 17576241
GO:0005737	cytoplasm	IEA	--
GO:0005886	plasma membrane	EXP	1715582 10778855

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COL1A1 for ontologies About GeneDecksing

Antibodies for COL1A1:

	Millipore Mono- and Polyclonal Antibodies for the study of COL1A1
	Sigma-Aldrich Antibodies for COL1A1
	Browse R&D Systems for Antibodies
	Monoclonal and Polyclonal Antibodies from Abnova (COL1A1)
	Browse Origene Antibodies
	Novus Biologicals Antibodies for COL1A1
	Browse antibodies at Epitomics

Assays for COL1A1:

	Millipore Kits and Assays for the Analysis of COL1A1
	Browse ELISAs at Sigma-Aldrich
	Browse R&D Systems for biochemical assays
	Browse Enzo Life Sciences for kits & assays

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

Similarity: Belongs to the fibrillar collagen family

Similarity: Contains 1 fibrillar collagen NC1 domain

Similarity: Contains 1 VWFC domain

(According to MGI May 08 2010, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, Abnova, siRNAs from Applied Biosystems, Sigma-Aldrich, Clones from Millipore, Sigma-Aldrich, OriGene, Sino Biological, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene.)
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Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products
		Origene 29mer shRNA kits in GFP-retroviral vector: COL1A1 Origene shRNA RFP: COL1A1 Origene basic RS shRNA: COL1A1
		Applied Biosystems Silencer® siRNAs for COL1A1
		Sigma-Aldrich siRNA for COL1A1 Sigma-Aldrich shRNA Panels and shRNA for COL1A1 Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		Origene GFP tagged cDNA clones in CMV expression vector: COL1A1 Origene Myc/DDK tagged cDNA clones in CMV expression vector: COL1A1 Origene untagged cDNA clones in CMV expression vector: COL1A1
		Browse Sino Biological Human cDNA Clones

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,

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005102	receptor binding	--	--
GO:0005201	extracellular matrix structural constituent	IEA	--
GO:0005515	protein binding	IPI	14749390 16278217 18375391
GO:0042802	identical protein binding	IDA	17211858
GO:0048407	platelet-derived growth factor binding	IDA	8900172

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COL1A1 for ontologies About GeneDecksing

Animal Models: 15/26 MGI mutant phenotypes (inferred from 17 alleles) (MGI details for Col1a1) (see all 26 ):

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial
digestive/alimentary	embryogenesis	growth/size	hearing/vestibular/ear	hematopoietic system
homeostasis/metabolism	immune system	lethality-postnatal	lethality-prenatal/perinatal	life span-post-weaning/aging

COL1A1 for phenotypes About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, Applied Biosystems GeneAssist, KEGG and/or UniProtKB, (map by GeneGo),
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene).
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COL1A1 for pathways About GeneDecksing

5/9 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 Sigma-Aldrich "Your Favorite Gene" Pathways for COL1A1 (Your Favorite Gene powered by Ingenuity)

	Hepatic Fibrosis / Hepatic Stellate Cell Activation
	Role of Osteoblasts, Osteoclasts and Chondrocytes in Rheumatoid Arthritis
	Dendritic Cell Maturation
	Atherosclerosis Signaling
	IL-6 Signaling

5/16 GeneAssist Pathways for COL1A1 (see all 16 )

	Blood Coagulation Cascade
	Inhibition of Angiogenesis by TSP1
	Phospholipase-C Pathway
	ERK Signaling
	MAPK Signaling

2 Kegg Pathways (Kegg details for COL1A1):

	hsa04510 Focal adhesion
	hsa04512 ECM-receptor interaction

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for COL1A1

5/86 Interacting proteins for COL1A1 (ENSP00000225964³ P02452^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 86 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
COCH	O43405²	MINT-6796048
COL1A2	ENSP00000297268³	STRING: ENSP00000297268
FLT4	ENSP00000261937³	STRING: ENSP00000261937
GP1BA	ENSP00000329380³	STRING: ENSP00000329380
GP6	ENSP00000308782³	STRING: ENSP00000308782

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5/25 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 25 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001501	skeletal system development	IMP	1874719 8097422 14976317
GO:0001568	blood vessel development	IMP	17211858
GO:0001649	osteoblast differentiation	IEA	--
GO:0001957	intramembranous ossification	IEA	--
GO:0001958	endochondral ossification	IEA	--

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COL1A1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
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COL1A1 for compounds About GeneDecksing

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for COL1A1
10/94 Novoseek chemical compound relationships for COL1A1 gene (see all 94 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
sparc	14.42	10	19877060 (2), 19956414 (1), 19145252 (1), 18785065 (1) (see all 9)
vitamin d	12.63	28	7890807 (3), 12868700 (2), 9811048 (1), 9402939 (1) (see all 25)
rsai	11.72	7	1982109 (2), 2572536 (1), 12879219 (1), 12491092 (1) (see all 6)
ecteinascidin 743	8.95	6	12881530 (6)
nppa	6.45	3	15582321 (2), 14993121 (1)
chloramphenicol	6.10	13	9870870 (1), 9811061 (1), 9655920 (1), 8920984 (1) (see all 13)
procollagen	5.38	6	8418862 (1), 2777083 (1), 18248096 (1), 16086434 (1) (see all 6)
mspi	4.58	4	2572536 (1), 1982109 (1), 11208313 (1), 10928224 (1)
rottlerin	3.90	3	11696585 (3)
tgf beta1	3.87	4	19678759 (1), 18785065 (1), 18430064 (1), 15956691 (1)

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1 PharmGKB drug compound relationship for COL1A1 gene

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
glucocorticoids	FA	10321840

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 223 Homo sapiens; Apr 2 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from SABiosciences,
Tagged/untagged cDNA clones from OriGene, Primers from OriGene and/or SABiosciences,
Expression Assays from Applied Biosystems)
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Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products
		Applied Biosystems Silencer® siRNAs: NM_000088
		Origene 29mer shRNA kits in GFP-retroviral vector: COL1A1 Origene shRNA RFP: COL1A1 Origene basic RS shRNA: COL1A1
		Sigma-Aldrich siRNA for COL1A1 Sigma-Aldrich shRNA Panels and shRNA for COL1A1 Explore Sigma-Aldrich super-pooled esiRNAs

microRNA:		10/17 SABiosciences microRNAs that regulate COL1A1 (see all 17 ):
		hsa-let-7d hsa-miR-29c hsa-miR-29a hsa-let-7c hsa-miR-218 hsa-let-7g hsa-let-7a hsa-miR-98 hsa-let-7i hsa-let-7e

Assays:

Applied Biosystems TaqMan® Gene Expression Assays:

NM_000088

Clones:

Origene GFP tagged cDNA clones in CMV expression vector: COL1A1
Origene Myc/DDK tagged cDNA clones in CMV expression vector: COL1A1
Origene untagged cDNA clones in CMV expression vector: COL1A1

Primers:		Origene genome-wide validated SYBR primer pairs: COL1A1
		SABiosciences RT2 qPCR Primer Assay for COL1A1: PPH01299A

REFSEQ mRNAs for COL1A1 gene:

NM_000088.3

Additional cDNA sequence:

AB032018.1 M32798.1

24/97 DOTS entries (see all 97 ):

DT.102841307 DT.95105014 DT.87077250 DT.95077068 DT.100662609 DT.100662592 DT.92404389 DT.95171216

DT.95123444 DT.91808350 DT.95353801 DT.95301324 DT.100788832 DT.92476449 DT.95171185 DT.102841298

DT.100775390 DT.120952850 DT.100748130 DT.100799297 DT.120952797 DT.120952848 DT.120953079 DT.100647432

24/2025 AceView cDNA sequences (see all 2025 ):

BM679506 BQ304763 CB216487 BU735663 AU118186 T28262 BQ029532 AI754001

AI347145 AI923684 CN484030 AW067809 BU850092 AI858414 CA427579 BI494863

BG938486 BM667637 AI925025 W73508 CA405779 J00111 AI751621 BM667388

highest scoring ESTs for COL1A1:

AA330962 AA346685 AA378615 AA852608 AA853395 AA853752 AI750734 AI751495 AI751537 AI751651

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

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for COL1A1 (see all 12 )

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:

About this scheme

ECgene alternative splicing isoforms for COL1A1

9 Ensembl transcripts including schematic representations:

ENST00000225964 ENST00000474644 ENST00000495677 ENST00000485870 ENST00000463440 ENST00000471344

ENST00000476387 ENST00000494334 ENST00000486572

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 223 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems, Primers from OriGene and/or SABiosciences )
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COL1A1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for COL1A1

¹ / ² / ³

11 probe-sets matching COL1A1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
35474_s_at²^{, 3}	U95-A	1	0.94	1.00	0.88	1.07	Y15915	0.40	1.00	0.76	1
35473_at²^{, 3}	U95-A	1	0.62	1.00	0.26	0.95	Y15919	0.20	1.00	0.72	1
202310_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	K01228	0.60	1.00	0.82	1
202311_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AI743621	0.40	1.00	0.76	1
217430_x_at²	U133-A	2	0.82	0.90	--	--	--	--	--	--	--
202312_s_at²^{, 3}	U133-A	1	0.36	1.00	--	--	NM_000088	0.60	1.00	0.82	1
1556499_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
202310_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
202311_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
217430_x_at²	U133Plus2	2	0.82	0.90	--	--	--	--	--	--	--
202312_s_at²	U133Plus2	1	0.36	1.00	--	--	--	--	--	--	--

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COL1A1 for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

About these images

CGAP SAGE TAG: ACCAAAAACC

SOURCE GeneReport for Unigene clusters: Hs.172928 Hs.681002

Expression variation in blood from EXPOLDB for COL1A1

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

Primers:		Origene genome-wide validated SYBR primer pairs: COL1A1
		SABiosciences RT2 qPCR Primer Assay for COL1A1: PPH01299A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI May 08 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for COL1A1 gene from 5/8 species (see all 8 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	COL1A1¹	--	collagen, type I, alpha 1	93.33(n) 97.81(a)	403651 NM_001003090.1 NP_001003090.1
chimpanzee (Pan troglodytes)	COL1A1¹	--	collagen, type I, alpha 1	98.88(n) 99.25(a)	455117 XM_001169320.1 XP_001169320.1
cow (Bos taurus)	COL1A1¹	--	collagen, type I, alpha 1	93.6(n) 97.54(a)	282187 NM_001034039.1 NP_001029211.1
rat (Rattus norvegicus)	Col1a1¹	--	collagen, type I, alpha 1	90.16(n) 92.77(a)	29393 XM_213440.4 XP_213440.1
mouse (Mus musculus)	Col1a1^{1, 5}	11 (56.00 cM)⁵	collagen, type I, alpha 1^{1, 5}	89.58(n)¹ 92.43(a)¹	12842¹ NM_007742.3¹ NP_031768.2¹ AK132180⁵ AK158011⁵ (see all 35)

About this table Species with no ortholog for COL1A1

ENSEMBL Gene Tree for COL1A1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for COL1A1 gene

COL4A6² COL11A2² COL4A5² COL24A1² COL4A4² COL5A3² COL4A2² COL5A2²

COL5A1² COL4A3² COL7A1² COL1A2² COL3A1² COL2A1² COL27A1² COL4A1²

COL11A1²

COL1A1 for paralogs About GeneDecksing

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Genotyping Reagents from Applied Biosystems)
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10/93 NCBI SNPs in COL1A1 are shown (see all 93 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 142)

AB	SNP ID	Valid	Chr 17 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Related Data				Allele Frequencies
				--	--	--		--	--			--
	rs2269336^1,2	C,F,O,A,H	43648819(-)	`TAGAGC/GCATCT`	1	--	ng5¹		16	EA NS NA WA	2484
	rs1061237^1,2	C,F,A,H	48262775(-)	`CCCCCT/CCAAAA`	1	--	ut3¹ ese³		12	MN NA NS EA WA	822
	rs867184^1,2	C,F,A	43630065(-)	`GGGGCT/CTTGGG`	1	--	ng3¹		7	MN EA NA WA	576
--	rs1061970^1,2	C,F,A	48261852(-)	`tctttT/Cttttt`	1	--	ut3¹ trp³		6	MN NS EA NA	590
	rs1800215^1,2	C,F,H	48265495(-)	`GTCCCG/ACCGGT`	2	/T /A	mis¹ ref¹ ese³		14	NS EA NA MN	2886
	rs909102^1,2	C,F,A	43630038(-)	`CCATTC/TCTGCC`	1	--	ng3¹		8	MN NS EA NA WA	802
	rs1061947^1,2	C,F,A	48262119(-)	`CTGGGC/TGGGAG`	1	--	ut3¹ ese³		7	MN NS EA NA WA	726
	rs1107946^1,2	C,F,H	43649453(+)	`AGAGAC/ACCCCT`	1	--	ng5¹		12	NA NS EA WA	2518
--	rs1059454^1,2	F	48262967(-)	`ACAAAA/CCCACC`	2	T P	ref¹ mis¹ ese³		1	MN	184
	rs2586486^1,2	C	48263216(+)	`GCCCTG/TGAGGA`	2	K Q	mis¹ ref¹ ese³		4	NS EA	420

About this table

HapMap Linkage Disequilibrium images for COL1A1 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for COL1A1
2 CNVs: 77657 88525

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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COL1A1 for disorders About GeneDecksing

OMIM: 120150 disorders: 166200 166210 259420 166220 130000 130060 166710 114000

UniProtKB/Swiss-Prot: CO1A1_HUMAN, P02452

Defects in COL1A1 are the cause of Caffey disease [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 2A (OI2A) [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 associated with susceptibility to involutional osteoporosis [MIM:166710];

also known as senile osteoporosis or postmenopausal osteoporosis. Osteoporosis is characterized by reduced bone

mineral density, disrutption of bone microarchitecture, and the alteration of the amount and variety of

non-collagenous proteins in bone. Osteoporotic bones are more at risk of fracture

A chromosomal aberration involving COL1A1 is a cause of dermatofibrosarcoma protuberans (DFSP) [MIM:607907].

Translocation t(17;22)(q22;q13) with PDGF. DFSP is an uncommon, locally aggressive, but rarely metastasizing tumor of

the deep dermis and subcutaneous tissue. It typically occurs during early or middle adult life and is most frequently

located on the trunk and proximal extremities

10/127 Novoseek disease relationships for COL1A1 gene (see all 127 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
oi, type i	100.00	52	8544188 (4), 16604495 (4), 11860074 (4), 10521849 (4) (see all 26)
osteogenesis imperfecta	100.00	140	8613526 (4), 15241796 (4), 11208313 (4), 19491628 (3) (see all 99)
col2a1	100.00	48	9811048 (4), 9578595 (3), 20334886 (3), 19387081 (3) (see all 32)
dermatofibrosarcoma protuberans	95.97	50	18253748 (5), 16956568 (4), 16731589 (4), 10565681 (4) (see all 23)
otosclerosis	28.85	21	11860074 (7), 15211650 (5), 15241219 (3), 9752968 (2) (see all 7)
gene fusion	18.17	19	18253748 (2), 17478383 (2), 17337387 (2), 10565681 (2) (see all 15)
sclerosis; systemic	17.99	25	11037881 (6), 9811061 (4), 12881530 (4), 8702443 (3) (see all 11)
high myopia	17.50	13	18836165 (4), 17557158 (4), 17273809 (3), 19260140 (2)
osteogenesis imperfecta, perinatal lethal	16.65	7	8349697 (1), 7679635 (1), 7643358 (1), 7487936 (1) (see all 7)
oi, type iii	16.34	7	8100856 (2), 9240878 (1), 7789952 (1), 19283684 (1) (see all 6)

About this table

GeneTests: COL1A1

Locus Specific Mutation Databases: COL1A1
Human Gene Mutation Database: COL1A1
Genetic Association Database: COL1A1
Human Genome Epidemiology Navigator: COL1A1 (131 documents)

(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/695 PubMed articles for COL1A1 gene (see all 695 ):

Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene. (PubMed id 8841196)^{1, 3, 4, 6} Grant S.F.A.... Ralston S.H. (1996)
Structure of a full-length cDNA clone for the prepro alpha 1(I) chain of human type I procollagen. (PubMed id 3178743)^{2, 3, 4} 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)^{2, 3, 4} 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, 3, 6} 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, 3, 6} Hartikka H....Ala-Kokko L. (2004)
Association of a COL1A1 polymorphism with lumbar disc disease in young military recruits. (PubMed id 15994869)^{1, 3, 6} 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, 3, 6} Rodriguez L....Zapata C. (2004)
Bone mineral density in young women of the city of Sao Paulo, Brazil: correlation with both collagen type I alpha 1 gene polymorphism and clinical aspects. (PubMed id 12185380)^{1, 3, 6} Barros E.R....Lazaretti-Castro M. (2002)
Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. (PubMed id 9443882)^{1, 3, 4} Korkko J.M....Prockop D.J. (1998)
Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. (PubMed id 10627137)^{1, 3, 4} Mottes M.... Freising P. (1998)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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)
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Entrez Gene: 1277	HGNC: 2197	AceView: COL1A1	Ensembl:ENSG00000108821	euGenes: HUgn1277
ECgene: COL1A1	Kegg: 1277	H-InvDB: COL1A1

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for COL1A1	Genetics and Cytogenetics in Oncology and Haematology
COL1A1	http://www.le.ac.uk/genetics/collagen/col1a1.html
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
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Patent Information for COL1A1 gene:

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protein-coding GIFtS: 69

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