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COL1A1 Gene

protein-coding GIFtS: 69

GC17M045617

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
OI4 ^¹, ²

Descriptions
Alpha-1 type I collagen ^³
alpha 1 type I collagen ^²
collagen alpha 1 chain type I ^²
collagen of skin, tendon and bone, alpha-1 chain ^²
collagen, type I, alpha 1 ^²
pro-alpha-1 collagen type 1 ^²

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

Search outside databases for aliases for COL1A1 gene

Previous GC identifers: GC17M047864 GC17M050742 GC17M048602 GC17M048736

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene 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%2C_type_I%2C_alpha_1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the COL1A1 gene

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 GC17M045617: (about GC identifiers)

Start:	45,616,456 bp from pter
End:	45,633,999 bp from pter
Size:	17,544 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000017.9 NT_010783.14

(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 Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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)

Subcellular location: Secreted, extracellular space, extracellular matrix (By similarity)

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 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

	Browse Drug Discovery Central at Invitrogen for 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
	Recombinant Proteins from Abcam (Procollagen Type 1, Collagen I + Collagen III, PICP, Collagen I, Collagen I + II + III, Collagen I + II + III + IV + V)
	Human Recombinant Proteins from Abnova (COL1A1)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0005581	collagen	IEA	--
GO:0005584	collagen type I	IMP	14976317 17576241
GO:0005886	plasma membrane	EXP	1715582 1939645 9028946 9280292 9295288 10778855

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Antibodies for COL1A1:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of COL1A1
	Sigma-Aldrich Antibodies for COL1A1
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (Procollagen Type 1, Collagen I + Collagen III, PICP, Collagen I, Collagen I + II + III, Collagen I + II + III + IV + V), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (COL1A1)
	Novus Biologicals Antibodies for COL1A1

Assays for COL1A1:

	Browse Invitrogen for biochemical assays
	Millipore Kits and Assays for the Analysis of COL1A1
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (COL1A1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000088

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 Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000088
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000088
untagged cDNA clone in CMV expression vector: NM_000088

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000088

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,

15/25 MGI mutant phenotypes (inferred from 12 alleles) (MGI details for Col1a1) (see all 25 ):

	adipose tissue	behavior/neurological	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

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005201	extracellular matrix structural constituent	IEA	--
GO:0042802	identical protein binding	IDA	17211858

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(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
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 Apr 2009 via Entrez Gene.)
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3 Sigma-Aldrich "Your Favorite Gene" Pathways for COL1A1 (Your Favorite Gene powered by Ingenuity)

Dendritic Cell Maturation
Hepatic Fibrosis / Hepatic Stellate Cell Activation
IL-6 Signaling

GeneDecks COL1A1 for the pathways selected above

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

5/203 Interacting proteins for COL1A1 (ENSP00000225964³ P02452^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 203 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
- - (xeno)	Q5YB85¹	EBI-982999, EBI-982988
COCH	O43405²	MINT-6796048
FN1	ENSP00000323534³	STRING (score=.999)
ITGA2	ENSP00000296585³	STRING (score=.998)
VWF	ENSP00000261405³	STRING (score=.998)

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5/16 Gene Ontology (GO) biological process terms (links to tree view) (see all 16 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001503	ossification	IEA	--
GO:0001568	blood vessel development	IMP	17211858
GO:0007584	response to nutrient	IEA	--
GO:0007601	visual perception	IMP	17557158
GO:0007605	sensory perception of sound	IMP	17489845

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(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)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for COL1A1
10/17 Novoseek chemical compound relationships for COL1A1 gene (see all 17 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
procollagen	66.07	3	8418862 (1), 15727634 (1), 9076960 (1)
nppa	57.42	3	15582321 (2), 14993121 (1)
rsai	52.39	7	10928224 (1), 12879219 (1), 1982109 (1), 12491092 (1) (see all 5)
hydroxylysine	51.46	1	10329027 (1)
mspi	38.34	4	10928224 (1), 1982109 (1), 11208313 (1)
apai	29.95	2	16261459 (1)
oligonucleotide	18.69	3	8418862 (1), 11920680 (1), 7556374 (1)
xbai	16.76	2	12879219 (1), 11420783 (1)
hydroxyproline	15.27	3	9837901 (1), 16309954 (1), 18089612 (1)
carbodiimide	13.86	1	2035536 (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

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(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) 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 Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (COL1A1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000088

Sigma-Aldrich siRNA for COL1A1

Sigma-Aldrich shRNA Panels and shRNA for COL1A1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000088

REFSEQ mRNAs for COL1A1 gene:

NM_000088.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000088

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000088
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000088
                                 untagged cDNA clone in CMV expression vector: NM_000088

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 ):

CA425269 BU789385 AA343290 BU617491 AA342830 BQ328512 BQ614283 BQ960697

BG012714 AA339957 AW272321 AA346509 AI753297 BG939313 AW067859 CN483830

AA301062 AI753591 AI754236 BU618113 AU118186 AW841343 W73508 AI753448

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

1 Ensembl transcript including schematic representation:

ENST00000225964

(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 219 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 )
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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
35473_at²^{, 3}	U95-A	1	1.00	1.00	0.26	0.95	Y15919	0.20	1.00	0.72	1
35474_s_at²^{, 3}	U95-A	3	1.00	0.94	0.88	1.07	Y15915	0.40	1.00	0.76	1
202310_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	K01228	0.60	1.00	0.82	1
202312_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000088	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	3	0.82	0.85	--	--	--	--	--	--	--
1556499_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
202310_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
202312_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
202311_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
217430_x_at²	U133Plus2	3	0.82	0.85	--	--	--	--	--	--	--

GeneDecks COL1A1 for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: --

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

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

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 38)

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)
About This Section

Paralogs for COL1A1 gene

COL2A1² COL5A2²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/647 NCBI SNPs in COL1A1 are shown (see all 647 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 131)

AB	SNP ID	Valid	Chr 17 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs2269336^1,2	A,C,F,H,O	45635355(-)	`TAGAGC/GCATCT`	1	--	ng3¹		9	EA EU WA NA	2264
	rs1061237^1,2	A,C,F,H	45617774(-)	`CCCCCT/CCAAAA`	1	--	ut3¹ ese³		8	MN NA EU EA WA	696
--	rs1061970^1,2	A,C,F,H	45616851(-)	`tctttT/Cttttt`	1	--	ut3¹ trp³		5	MN EU EA WA	588
	rs909102^1,2	A,C,F,H	45616365(-)	`CCATTC/TCTGCC`	1	--	ng5¹		5	MN EU EA WA	592
	rs1061947^1,2	A,C,F,H	45617118(-)	`CTGGGC/TGGGAG`	1	--	ut3¹ ese³		5	MN EU EA WA	604
	rs1800215^1,2	C,F,H	45620494(-)	`GTCCCG/ACCGGT`	1	T/A	mis¹ ese³		10	EU EA WA NA MN	2878
	rs867184^1,2	A,F	45616392(-)	`GGGGCT/CTTGGG`	1	--	ng5¹		3	MN EA	364
	rs1107946^1,2	C,F	45635989(+)	`AGAGAC/ACCCCT`	1	--	ng3¹		7	NA EU EA WA	2301
	rs12603724^1,2	C,H	45635277(+)	`CCTTAG/AGAACC`	1	--	ng3¹		4	EU EA WA	376
--	rs41316713^1,2	F	45619845(-)	`TCCCCG/AAGTAA`	1	Q/R	mis¹		1	MN	192

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HapMap Linkage Disequilibrium images for COL1A1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 120150

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 I (OI-I) [MIM:166200]. OI-I

is a dominantly inherited serious newborn disease characterized by bone fragility, normal stature,

little or no deformity, blue sclerae and hearing loss in 50% of families. Dentinogenesis

imperfecta is rare and may distinguish a subset of OI type I (formation of dentine)

Defects in COL1A1 are a cause of osteogenesis imperfecta type II (OI-II) [MIM:166210];

also known as osteogenesis imperfecta congenita. OI-II is lethal in the perinatal period and is

charaterized by calvarial mineralization, beaded ribs, compressed femurs, marked long bone

deformity and platyspondyly (congenital flattening of the vertebral bodies)

Defects in COL1A1 are a cause of osteogenesis imperfecta type III (OI-III) [MIM:259420];

also called progressively deforming osteogenesis imperfecta with normal sclerae. OI-III is

characterized by progressively deforming bones, usually with moderate deformity at birth, sclerae

is variable in color, dentinogenesis imperfecta and hearing loss are common. The stature is very

short

Defects in COL1A1 are a cause of osteogenesis imperfecta type IV (OI-IV) [MIM:166220].

OI-IV is charaterized by normal sclerae, moderate to mild deformity and variable short stature.

Dentinogenesis imperfecta is common and hearing loss occurs in some patients

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

10/34 Novoseek disease relationships for COL1A1 gene (see all 34 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
osteogenesis imperfecta	94.69	81	1967900 (2), 9752968 (2), 15241796 (2), 2220807 (2) (see all 70)
oi, type i	94.04	54	8544188 (4), 10521849 (4), 11860074 (4), 18755172 (3) (see all 25)
osteogenesis imperfecta, type ii	91.19	8	18996919 (1), 1460046 (1), 7487936 (1), 17508636 (1) (see all 7)
oi, type iv	88.05	2	11208313 (1), 11286811 (1)
oi, type iii	87.98	8	8100856 (2), 9240878 (1), 19283684 (1), 7789952 (1) (see all 6)
dermatofibrosarcoma protuberans	85.00	16	12786837 (2), 16040406 (2), 16681596 (1), 17478383 (1) (see all 10)
dentinogenesis imperfecta	81.28	1	11286811 (1)
ehlers-danlos syndrome, type i	76.22	2	1684560 (1), 17118335 (1)
caffey disease	74.56	4	18704262 (1), 15864348 (1)
ehlers-danlos syndrome	73.53	8	1990839 (1), 1867198 (1), 16816023 (1), 18272325 (1) (see all 8)

About this table

GeneTests: COL1A1

Human Gene Mutation Database: COL1A1
Genetic Association Database: COL1A1
Human Genome Epidemiology Navigator: COL1A1 (118 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/643 PubMed articles for COL1A1 gene (see all 643 ):

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)
[Association analysis on the polymorphisms of PCOL2 and Sp1 binding sites of COL1A1 gene and the congenital dislocation of the hip in Chinese population] (PubMed id 15952128)^{1, 3, 6} Jiang J....Ji S.J. (2005)
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)
Association of otosclerosis with Sp1 binding site polymorphism in COL1A1 gene: evidence for a shared genetic etiology with osteoporosis. (PubMed id 15241219)^{1, 3, 6} McKenna M.J....Kristiansen A.G. (2004)

(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, and/or H-InvDB)
About This Section

Entrez Gene: 1277	HGNC: 2197	AceView: COL1A1	Ensembl:ENSG00000108821	euGenes: HUgn1277
ECgene: COL1A1	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)
About This Section

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.genetests.org/query?gene=COL1A1
Wikipedia	http://en.wikipedia.org/wiki/Type-I_collagen

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COL1A1 Gene

protein-coding GIFtS: 69

Aliases &
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Summaries
for COL1A1

Genomic Location
for COL1A1

Proteins
for COL1A1

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Families
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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

COL1A1 Gene

protein-coding GIFtS: 69

Aliases & Descriptionsfor COL1A1

Summariesfor COL1A1

Genomic Locationfor COL1A1

Proteinsfor COL1A1

Protein Domains/Familiesfor COL1A1

Gene Functionfor COL1A1

Pathways & Interactionsfor COL1A1

Drugs & Compoundsfor COL1A1

Transcriptsfor COL1A1

Expression for COL1A1

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Paralogsfor COL1A1

SNPs/Variantsfor COL1A1

Disorders & Mutationsfor COL1A1

Medical Newsfor COL1A1

Publicationsfor COL1A1

Search for COL1A1

Genome Databases showing COL1A1

Other Databases showing COL1A1

Specialized Databases showing COL1A1

Licensable Technologiesfor COL1A1

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for COL1A1

Summaries
for COL1A1

Genomic Location
for COL1A1

Proteins
for COL1A1

Protein Domains/
Families
for COL1A1

Gene Function
for COL1A1

Pathways & Interactions
for COL1A1

Drugs & Compounds
for COL1A1

Transcripts
for COL1A1

Expression
for COL1A1

Orthologs
for COL1A1

Paralogs
for COL1A1

SNPs/Variants
for COL1A1

Disorders & Mutations
for COL1A1

Medical News
for COL1A1

Publications
for COL1A1

Licensable Technologies
for COL1A1

Services
for COL1A1