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COL7A1 Gene

protein-coding GIFtS: 63

GC03M048576

collagen, type VII, alpha 1
(Previous names: epidermolysis bullosa, dystrophic, dominant and recessive )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: EBDCT, EBD1, EBR1)

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

Aliases
EBD1 ^²
EBDCT ^²
EBR1 ^²

Descriptions
LC collagen ^², ³
Long-chain collagen ^³
alpha 1 type VII collagen ^²
collagen VII, alpha-1 polypeptide ^²
collagen, type VII, alpha 1 ^²
epidermolysis bullosa, dystrophic, dominant and recessive ^¹
long chain collagen ^²

External Ids
HGNC: 2214¹
Entrez Gene: 1294²
UniProtKB: Q02388³
Ensembl: ENSG00000114270⁷

Search outside databases for aliases for COL7A1 gene

Previous GC identifers: GC03M048391 GC03M047884 GC03M048562

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for COL7A1:

This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of

three identical alpha collagen chains, is restricted to the basement zone beneath stratified

squamous epithelia. It functions as an anchoring fibril between the external epithelia and the

underlying stroma. Mutations in this gene are associated with all forms of dystrophic

epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can

result from an autoimmune response made to type VII collagen. [provided by RefSeq]

UniProtKB/Swiss-Prot: CO7A1_HUMAN, Q02388

Function: Stratified squamous epithelial basement membrane protein that forms anchoring fibrils

which may contribute to epithelial basement membrane organization and adherence by interacting

with extracellular matrix (ECM) proteins such as type IV collagen

Gene Wiki entry for COL7A1 (Collagen%2C_type_VII%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)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the COL7A1 gene

Entrez Gene cytogenetic band: 3p21.1 Ensembl cytogenetic band: 3p21.31 HGNC cytogenetic band: 3p21.1

COL7A1 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 3 GeneLoc Exon Structure

GeneLoc location for GC03M048576: (about GC identifiers)

Start:	48,576,510 bp from pter
End:	48,607,597 bp from pter
Size:	31,088 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000003.10 NT_022517.17

(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)
About This Section

UniProtKB/Swiss-Prot: CO7A1_HUMAN, Q02388 (See protein sequence)

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

Size: 2944 amino acids; 295220 Da

Subunit: Homotrimer. Interacts with MIA3/TANGO1; facilitating its loading into transport carriers

and subsequent secretion

Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane

Sequence caution: Sequence=BAA02853.1; Type=Frameshift; Positions=275, 282, 476, 494, 523, 541,

543;

Secondary accessions: Q14054 Q16507

Alternative splicing: 2 isoforms: Q02388-1 Q02388-2

Post-translational modifications:

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

all of the chains¹

REFSEQ proteins: NP_000085.1

ENSEMBL proteins:

ENSP00000332371

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	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 (Collagen VII)
	Browse Abnova for Human Recombinant Proteins

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

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0005590	collagen type VII	TAS	9375848
GO:0005604	basement membrane	TAS	9375848

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Antibodies for COL7A1:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of COL7A1
	Sigma-Aldrich Antibodies for COL7A1
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (Collagen VII), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (COL7A1)
	Novus Biologicals Antibody for COL7A1

Assays for COL7A1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	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)
About This Section

Graphical View of Domain Structure for InterPro Entry Q02388

ProtoNet protein and cluster: Q02388

4 Blocks protein families:

IPB002035 Von Willebrand factor type A domain signature

IPB002223 Pancreatic trypsin inhibitor (Kunitz)

IPB008160 Collagen triple helix repeat

IPB008161 Collagen helix repeat

UniProtKB/Swiss-Prot: CO7A1_HUMAN, Q02388

Similarity: Contains 1 BPTI/Kunitz inhibitor domain

Similarity: Contains 9 fibronectin type-III domains

Similarity: Contains 2 VWFA domains

(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 (COL7A1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000094

Applied Biosystems Silencer® siRNAs for COL7A1

Sigma-Aldrich siRNA and siRNA Panels for COL7A1

Sigma-Aldrich shRNA Panels and shRNA for COL7A1

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_000094
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000094
untagged cDNA clone in CMV expression vector: NM_000094

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_000094

UniProtKB/Swiss-Prot: CO7A1_HUMAN, Q02388

Function: Stratified squamous epithelial basement membrane protein that forms anchoring fibrils

which may contribute to epithelial basement membrane organization and adherence by interacting

with extracellular matrix (ECM) proteins such as type IV collagen

Genatlas biochemistry entry for COL7A1:

collagen type VII,alpha 1,anchoring fibril

8 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Col7a1):

digestive/alimentary	growth/size	lethality-postnatal	life span-post-weaning/aging	limbs/digits/tail
normal	skeleton	skin/coat/nails

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	--
GO:0005515	protein binding	IEA	--

About this table

(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.)
About This Section

Gene Network Central^TM Interacting Genes and Proteins Network for COL7A1

5/26 Interacting proteins for COL7A1 (Q02388^{1, 2} ENSP00000332371³) via UniProtKB, MINT, and/or STRING (see all 26 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MIA3	Q5JRA6¹	EBI-724237, EBI-2291868
FBXL2	Q9UKC9²	MINT-64035
HSPA8	P11142²	MINT-64032
SHKBP1	Q8TBC3²	MINT-64034
ZC3H7A	Q8IWR0²	MINT-64033

About this table

2 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007155	cell adhesion	IEA	--
GO:0008544	epidermis development	TAS	8170945

About this table

(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 COL7A1

(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 (COL7A1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000094

Sigma-Aldrich siRNA and siRNA Panels for COL7A1

Sigma-Aldrich shRNA Panels and shRNA for COL7A1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000094

REFSEQ mRNAs for COL7A1 gene:

NM_000094.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000094

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000094
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000094
                                 untagged cDNA clone in CMV expression vector: NM_000094

Additional cDNA sequence:

L02870.1 L06862.1 M65158.1 M96984.1 S51236.1

7 DOTS entries:

DT.413418 DT.444805 DT.120868605 DT.98084062 DT.100792890 DT.100792891 DT.95163505

24/154 AceView cDNA sequences (see all 154 ):

BM981593 BF366213 AW206043 AF288410 BQ681565 BM709189 BQ054224 BM846802

AA324420 BC017697 BM782886 NM_134263 BU543732 AA779900 BM703189 BU542954

CF131391 BM668143 NM_134426 BG171652 AA609061 BM846627 AW779600 BE348329

highest scoring ESTs for COL7A1:

L02870 BF736817 BG986644 BM913654 BQ368594 CN367616 F31221 AU310205 AU310206 AW797005

Unigene Cluster for COL7A1:

Collagen, type VII, alpha 1

Hs.476218 [show with all ESTs]

Unigene Representative Sequence: L02870

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for COL7A1 (see all 9 )

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20	^	21	^	22	^	23	^	24	^	25	^	26	^
SP1:
SP2:
SP3:
SP4:
SP5:

ExUns:	27	^	28	^	29	^	30	^	31	^	32	^	33	^	34	^	35	^	36	^	37	^	38	^	39	^	40	^	41	^	42	^	43	^	44	^	45	^	46	^	47	^	48	^	49	^	50a	·	50b	^	51	^
SP1:																																															-
SP2:
SP3:
SP4:
SP5:

ExUns:	52	^	53	^	54	^	55a	·	55b	^	56a	·	56b	^	57a	·	57b	^	58	^	59	^	60	^	61a	·	61b	^	62a	·	62b	^	63a	·	63b	·	63c	·	63d
SP1:																									-				-				-
SP2:
SP3:
SP4:	-		-		-		-		-		-														-
SP5:															-										-				-

About this scheme

ECgene alternative splicing isoforms for COL7A1

1 Ensembl transcript including schematic representation:

ENST00000328333

(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 )
About This Section

COL7A1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for COL7A1

¹ / ² / ³

5 probe-sets matching COL7A1 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
32123_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	L02870	0.80	0.88	0.84	1
217312_s_at²	U133-A	1	1.00	1.00	--	--	--	--	--	--	--
204136_at²^{, 3}	U133-A	2	1.00	0.95	--	--	NM_000094	0.60	0.78	0.69	1
217312_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
204136_at²	U133Plus2	2	1.00	0.95	--	--	--	--	--	--	--

About this table

Data from

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

CGAP SAGE TAG: GTGCTGATTC

SOURCE GeneReport for Unigene cluster: Hs.476218

(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 COL7A1 gene from 3 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	COL7A1¹	--	collagen, type VII, alpha 1	87.63(n) 88.42(a)	403467 NM_001002980.1 NP_001002980.1
chimpanzee (Pan troglodytes)	COL7A1¹	--	collagen, type VII, alpha 1	99.34(n) 99.12(a)	460347 XM_001158576.1 XP_001158576.1
mouse (Mus musculus)	Col7a1^{1, 5}	9 (61.00 cM)⁵	collagen, type VII, alpha 1^{1, 5}	84.36(n)¹ 84.75(a)¹	12836¹ NM_007738.3¹ NP_031764.2¹ AW209154⁵ BC061507⁵ (see all 12)

About this table Species with no ortholog for COL7A1

ENSEMBL Gene Tree for COL7A1

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

Paralogs for COL7A1 gene

COL24A1² COL27A1²

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

10/146 NCBI SNPs in COL7A1 are shown (see all 146 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 85)

AB	SNP ID	Valid	Chr 3 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs2228561^1,2	A,C,F,H	48603018(-)	`AGAGCC/TGGAAA`	1	P/L	mis¹ ese³		14	MN NA EU EA WA	1232
	rs2229822^1,2	C,F	48583134(-)	`AGGCCC/TCCCAG`	1	P/L	mis¹		6	MN NA EU EA WA	528
	rs2228563^1,2	C,H	48599044(-)	`GCAAAG/AGATCC`	1	K/R	mis¹ ese³		5	MN EU EA WA	484
	rs11715496^1,2	F,H	48608249(+)	`TGGGCC/AGGTCT`	1	--	ng3¹		1	EU	120
	rs35761247^1,2	C,F	48598128(+)	`TCACCG/AGGAGG`	1	L/P	mis¹		5	NA EU EA WA	492
--	rs2229819^1,2	F	48598058(-)	`CCTCCC/TGGGCA`	3	P L	syn¹ fra¹ mis¹		1	MN	54
	rs10452029^1,2	H	48609576(+)	`CTTCTA/GTGAGA`	1	--	ng3¹		4	EU EA WA	420
--	rs2229823^1,2	F	48603251(-)	`AGGGGG/TTGGAG`	1	V/F	mis¹		1	MN	54
	rs1264194^1,2	A,C,F,H,O	48600270(-)	`GGGCCG/AGCTGG`	1	P/P	syn¹ ese³		14	EA NA MN EU WA	1006
	rs2854390^1,2	C,H	48599097(-)	`CGGCCC/TTCCCC`	1	P/P	syn¹ ese³		2	MN EU	292

About this table

HapMap Linkage Disequilibrium images for COL7A1 (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.)
About This Section

OMIM: 120120

UniProtKB/Swiss-Prot: CO7A1_HUMAN, Q02388

Epidermolysis bullosa acquisita (EBA) is an autoimmune acquired blistering skin disease

resulting from autoantibodies to type VII collagen

Defects in COL7A1 are the cause of epidermolysis bullosa dystrophica (DEB) [MIM:131750,

226600]. DEB defines a group of blistering skin diseases characterized by tissue separation which

occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils.

Inheritance can be autosomal dominant or recessive. Various clinical types with different severity

are recognized, ranging from severe mutilating forms to mild forms with limited and localized

scarring, and less frequent extracutaneous manifestations. Mild forms include epidermolysis

bullosa mitis and epidermolysis bullosa localisata

Defects in COL7A1 are the cause of epidermolysis bullosa dystrophica Pasini type (P-DEB)

[MIM:131750]; also known as albopapuloid dominant dystrophic epidermolysis bullosa. P-DEB is a

severe, dominantly inherited form of dystrophic epidermolysis bullosa characterized by

albopapuloid Pasini papule, dorsal extremity blistering, milia formation and red atrophic scarring

after recurrent blisters

Defects in COL7A1 are the cause of epidermolysis bullosa dystrophica Hallopeau-Siemens

type (HS-DEB) [MIM:226600]. HS-DEB is the most severe recessive form and manifests with mutilating

scarring, joint contractures, corneal erosions, esophagus structures, and propensity to formation

of cutaneous squamous cell carcinomas leading to premature demise of the affected individuals

Defects in COL7A1 are the cause of transient bullous dermolysis of the newborn (TBDN)

[MIM:131705]. TBDN is a neonatal form of dystrophic epidermolysis bullosa characterized by

sub-epidermal blisters, reduced or abnormal anchoring fibrils at the dermo-epidermal junction, and

electron-dense inclusions in keratinocytes. TBDN heals spontaneously or strongly improves within

the first months and years of life

Defects in COL7A1 are the cause of epidermolysis bullosa dystrophica pretibial type

(PR-DEB) [MIM:131850]. PR-DEB is characterized by pretibial blisters that develop into

prurigo-like hyperkeratotic lesions. It predominantly affects the pretibial areas, sparing the

knees and other parts of the skin. Other clinical features include nail dystrophy, albopapuloid

skin lesions, and hypertrophic scars without pretibial predominance. The phenotype shows

considerable interindividual variability Inheritance is autosomal dominant

Defects in COL7A1 are the cause of epidermolysis bullosa dystrophica Bart type (B-DEB)

[MIM:132000]. B-DEB is an autosomal dominant form of dystrophic epidermolysis bullosa

characterized by congenital localized absence of skin, skin fragility and deformity of nails

Defects in COL7A1 are the cause of epidermolysis bullosa pruriginosa (EBP) [MIM:604129].

EBP is a distinct clinical subtype of DEB. It is characterized by skin fragility, blistering, scar

formation, intense pruritus and excoriated prurigo nodules. Onset is in early childhood, but in

some cases is delayed until the second or third decade of life. Inheritance can be autosomal

dominant or recessive

Defects in COL7A1 are the cause of isolated toenail dystrophy without skin fragility

[MIM:607523]

Defects in COL7A1 are the cause of epidermolysis bullosa dystrophica with subcorneal

cleavage (EBDSC) [MIM:607600]; also known as epidermolysis bullosa simplex superficialis (EBSS).

EBDSC is a new variant of epidermolysis bullosa simplex (EBS), characterized by the development of

skin cleavage just beneath the level of stratum corneum. It appears to be transmitted as an

autosomal dominant trait and differs from other autosomal dominant forms of EBS by the common

findings of milia and atrophic scarring, as well as involvement of oral and/or ocular surfaces. It

is further differentiated by the presence of blisters and the absence of spontaneous continual

exfoliation or peeling

10/15 Novoseek disease relationships for COL7A1 gene (see all 15 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
epidermolysis bullosa dystrophic	99.01	165	9042157 (4), 7861014 (3), 9804332 (3), 8757758 (3) (see all 99)
epidermolysis bullosa pruriginosa	96.20	8	10383749 (2), 11218887 (1), 12353709 (1), 17336503 (1) (see all 6)
epidermolysis bullosa	92.34	13	8325648 (1), 7706758 (1), 18955559 (1), 10523500 (1) (see all 11)
epidermolysis bullosa, pretibial	88.49	1	8541842 (1)
ddeb dominant dystrophic epidermolysis bullosa	87.24	2	9718359 (1), 15113589 (1)
nail dystrophy	78.83	4	11781296 (1), 15113589 (1), 16189623 (1), 11260188 (1)
skin diseases	70.87	11	10408773 (1), 10504458 (1), 10206718 (1), 16470588 (1) (see all 11)
kindler syndrome	65.18	1	11862187 (1)
molecular pathology	59.70	6	19197535 (1), 10383749 (1), 9242516 (1), 17434045 (1) (see all 5)
epidermolysis bullosa junctional	48.02	2	10469327 (2)

About this table

GeneTests: COL7A1

Dystrophic Epidermolysis Bullosa

Human Gene Mutation Database: COL7A1
Genetic Association Database: COL7A1
Human Genome Epidemiology Navigator: COL7A1 (4 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

10/187 PubMed articles for COL7A1 gene (see all 187 ):

Human type VII collagen: cDNA cloning and chromosomal mapping of the gene. (PubMed id 1871109)^{2, 3, 4} Parente M.G.... Uitto J. (1991)
Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene. (PubMed id 8088784)^{1, 3, 4} Christiano A.M.... Greenspan D.S. (1994)
Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene. (PubMed id 9215684)^{1, 3, 4} Winberg J.-O.... Bruckner-Tuderman L. (1997)
Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation. (PubMed id 9326325)^{1, 3, 4} Hovnanian A....de Prost Y. (1997)
Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa. (PubMed id 8757758)^{1, 3, 4} Dunnill M.G.S.... Eady R.A.J. (1996)
High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa. (PubMed id 15888141)^{1, 3, 6} Csikos M....Bruckner-Tuderman L. (2005)
A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa. (PubMed id 10836608)^{1, 3, 4} Lee J.Y.-Y.... Uitto J. (2000)
Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa. (PubMed id 10383749)^{1, 3, 4} Mellerio J.E.... McGrath J.A. (1999)
Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis. (PubMed id 10504458)^{1, 3, 4} Whittock N.V.... McGrath J.A. (1999)
Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa. (PubMed id 11142768)^{1, 3, 4} Murata T....Nishikawa T. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 1294	HGNC: 2214	AceView: COL7A1.1	Ensembl:ENSG00000114270	euGenes: HUgn1294
ECgene: COL7A1	H-InvDB: COL7A1

(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
GeneReviews	http://www.genetests.org/query?gene=COL7A1

Licensable Technologies for COL7A1
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for COL7A1:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for COL7A1-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for COL7A1		Antibodies for COL7A1
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	Cell Culture Products		ELISAs
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	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
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	Recombinant Proteins (Collagen VII)
	Antibodies (Collagen VII)

Search OriGene for COL7A1

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Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for COL7A1

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COL7A1 Gene

protein-coding GIFtS: 63

Aliases &
Descriptions
for COL7A1

Summaries
for COL7A1

Genomic Location
for COL7A1

Proteins
for COL7A1

Protein Domains/
Families
for COL7A1

Gene Function
for COL7A1

Pathways & Interactions
for COL7A1

Drugs & Compounds
for COL7A1

Transcripts
for COL7A1

Expression
for COL7A1

Orthologs
for COL7A1

Paralogs
for COL7A1

SNPs/Variants
for COL7A1

Disorders & Mutations
for COL7A1

Medical News
for COL7A1

Publications
for COL7A1

Search for COL7A1

Genome Databases showing COL7A1

Other Databases showing COL7A1

Specialized Databases showing COL7A1

Licensable Technologies
for COL7A1

Services
for COL7A1

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

COL7A1 Gene

protein-coding GIFtS: 63

Aliases & Descriptionsfor COL7A1

Summariesfor COL7A1

Genomic Locationfor COL7A1

Proteinsfor COL7A1

Protein Domains/Familiesfor COL7A1

Gene Functionfor COL7A1

Pathways & Interactionsfor COL7A1

Drugs & Compoundsfor COL7A1

Transcriptsfor COL7A1

Expression for COL7A1

Orthologsfor COL7A1

Paralogsfor COL7A1

SNPs/Variantsfor COL7A1

Disorders & Mutationsfor COL7A1

Medical Newsfor COL7A1

Publicationsfor COL7A1

Search for COL7A1

Genome Databases showing COL7A1

Other Databases showing COL7A1

Specialized Databases showing COL7A1

Licensable Technologiesfor COL7A1

Servicesfor COL7A1

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 COL7A1

Summaries
for COL7A1

Genomic Location
for COL7A1

Proteins
for COL7A1

Protein Domains/
Families
for COL7A1

Gene Function
for COL7A1

Pathways & Interactions
for COL7A1

Drugs & Compounds
for COL7A1

Transcripts
for COL7A1

Expression
for COL7A1

Orthologs
for COL7A1

Paralogs
for COL7A1

SNPs/Variants
for COL7A1

Disorders & Mutations
for COL7A1

Medical News
for COL7A1

Publications
for COL7A1

Licensable Technologies
for COL7A1

Services
for COL7A1