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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

COL17A1 Gene

protein-coding GIFtS: 62
GCID: GC10M105781

collagen, type XVII, alpha 1

(Previous symbol: BPAG2)

Explore 35 diseases affiliated with
COL17A1 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 XVII, Alpha 1¹ ²		Alpha 1 Type XVII Collagen²
BPAG2¹ ² ³ ⁵		BA16H23.2 (Collagen, Type XVII, Alpha 1 (BP180))²
BP180¹ ² ³		Bullous Pemphigoid Antigen 2 (180kD)²
180 KDa Bullous Pemphigoid Antigen 2² ³		Collagen Alpha-1(XVII) Chain²
BA16H23.2²		Collagen XVII, Alpha-1 Polypeptide²
BPA-2²		Bullous Pemphigoid Antigen 2³
LAD-1²

External Ids:	HGNC: 2194¹	Entrez Gene: 1308²	Ensembl: ENSG00000065618⁷	OMIM: 113811⁵	UniProtKB: Q9UMD9³

Export aliases for COL17A1 gene to outside databases

Previous GC identifers: GC10M104684 GC10M105024 GC10M105922 GC10M105455 GC10M099422

(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 COL17A1:

This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane

protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal

basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are

associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type

XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either

ectodomain or LAD-1, is generated by proteolytic processing of the full length form. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: COHA1_HUMAN, Q9UMD9

Function: May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying

basement membrane

Function: The 120 kDa linear IgA disease antigen is an anchoring filament component involved in dermal-epidermal

cohesion. Is the target of linear IgA bullous dermatosis autoantibodies

Gene Wiki entry for COL17A1 (Collagen, type XVII, 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_000010.10 NC_018921.1 NT_030059.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the COL17A1 gene promoter:
Oct-B1 oct-B2 Pbx1a AML1a Nkx2-5 Gfi-1 HEN1 E2F-1 E2F LyF-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: COL17A1 promoter sequence

Search SABiosciences Chromatin IP Primers for COL17A1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL17A1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q24.3 Ensembl cytogenetic band: 10q25.1 HGNC cytogenetic band: 10q24.3

COL17A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL17A1 gene location

GeneLoc information about chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10M105781: view genomic region (about GC identifiers)

Start:	105,791,044 bp from pter	End:	105,845,760 bp from pter
Size:	54,717 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: COHA1_HUMAN, Q9UMD9 (See protein sequence)

Recommended Name: Collagen alpha-1(XVII) chain

Size: 1497 amino acids; 150419 Da

Subunit: Homotrimers of alpha 1(XVII)chains. Interacts (via cytoplasmic region) with ITGB4 (via cytoplasmic region).

Interacts (via cytoplasmic region) with DST isoform 3 (via N-terminus). Interacts (via N-terminus) with PLEC.

Interacts (via cytoplasmic region) with DSP

Subcellular location: Cell junction, hemidesmosome. Membrane; Single-pass type II membrane protein. Note=Localized

along the plasma membrane of the hemidesmosome

Subcellular location: 120 kDa linear IgA disease antigen: Secreted, extracellular space, extracellular matrix, basement

membrane. Note=Exclusively localized to anchoring filaments. Localized to the epidermal side of split skin

Subcellular location: 97 kDa linear IgA disease antigen: Secreted, extracellular space, extracellular matrix, basement

membrane. Note=Localized in the lamina lucida beneath the hemidesmosomes

Miscellaneous: Both the 120 kDa linear IgA disease antigen and the 97 kDa linear IgA disease antigen of COL17A1,

represent major antigenic targets of autoantibodies in patients with linear IgA disease (LAD). LAD is a subepidermal

blistering disorder characterized by tissue-bound and circulating IgA autoantibodies to the dermal-epidermal junction.

These IgA autoantibodies preferentially react with 97 and the 120 kDa forms, but not with the full-length COL17A1,

suggesting that the cleavage of the ectodomain generates novel autoantigenic epitopes

Sequence caution: Sequence=AAA35605.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Sequence=AAH04478.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;

Secondary accessions: Q02802 Q5JV36 Q99018 Q9NQK9 Q9UC14

Alternative splicing: 2 isoforms: Q9UMD9-1 Q9UMD9-2 (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for COL17A1: NX_Q9UMD9

Post-translational modifications:

The intracellular/endo domain is disulfide-linked¹

Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains¹

The ectodomain is shedded from the surface of keratinocytes resulting in a 120-kDa soluble form, also named as 120 kDa

linear IgA disease antigen. The shedding is mediated by membrane-bound metalloproteases. This cleavage is inhibited by

phosophorylation at Ser-544¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9UMD9

COL17A1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000485.3

ENSEMBL proteins:

ENSP00000340937 ENSP00000358748 ENSP00000388832 ENSP00000376905

Reactome Protein details: Q9UMD9
Human Recombinant Protein Products:

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	Browse Proteins at Uscn

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005581	collagen	IEA	--
GO:0005604	basement membrane	IEA	--
GO:0005788	endoplasmic reticulum lumen	TAS	--
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	TAS	9012408

COL17A1 for ontologies About GeneDecksing

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

COL17A1 for domains About GeneDecksing

1 InterPro domain/family:

IPR008160 Collagen

Graphical View of Domain Structure for InterPro Entry Q9UMD9

ProtoNet protein and cluster: Q9UMD9

2 Blocks protein families:

IPB008160 Collagen triple helix repeat

IPB008161 Collagen helix repeat

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

Function Summary:

UniProtKB/Swiss-Prot: COHA1_HUMAN, Q9UMD9

Function: May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying

basement membrane

Function: The 120 kDa linear IgA disease antigen is an anchoring filament component involved in dermal-epidermal

cohesion. Is the target of linear IgA bullous dermatosis autoantibodies

Genatlas biochemistry entry for COL17A1:

collagen type XVII,alpha 1,plasma membrane of keratinocytes

miRNA Products:		OriGene 3'-UTR Clone: COL17A1 Browse MicroRNA Expression Plasmids
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		8 QIAGEN miScript miRNA Assays for microRNAs that regulate COL17A1:
		hsa-miR-411* hsa-miR-203 hsa-miR-548am hsa-miR-379* hsa-miR-4287 hsa-miR-548t hsa-miR-548x hsa-miR-384

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL17A1

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	12482924

COL17A1 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for COL17A1:

High actin ratio cells

Increased gamma-H2AX phosphory

Animal Models:
Mouse knock-out Col17a1^tm1Shzu for COL17A1
5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Col17a1):

growth/size

immune system

integument

mortality/aging

reproductive system

COL17A1 for phenotypes About GeneDecksing

(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 - 5/12 super-pathways (see all 12) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

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

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

Collagen formation

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

Degradation of the extracellular matrix

Degradation of the extracellular matrix

1.00

Degradation of collagen

0.79

Blood Coagulation Cascade

Blood Coagulation Cascade

1.00

Intrinsic Prothrombin Activation Pathway

0.96

Pathway sources
See GeneCards unified pathways
Show all pathways

5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL17A1 (see all 15)

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

2 BioSystems Pathways for COL17A1

	Alpha6-Beta4 Integrin Signaling Pathway
	a6b1 and a6b4 Integrin signaling

5/10 Reactome Pathways for COL17A1 (see all 10)

	Assembly of collagen fibrils and other multimeric structures
	Collagen formation
	Degradation of collagen
	Secretion of transmembrane collagens
	Extracellular matrix organization

1 Kegg Pathway (Kegg details for COL17A1):

Protein digestion and absorption

COL17A1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for COL17A1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/57 Interacting proteins for COL17A1 (Q9UMD9³ ENSP00000340937⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 57)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ACTN4	O43707³, ENSP00000252699⁴	I2D: score=2 STRING: ENSP00000252699
CTNND1	O60716³, ENSP00000382004⁴	I2D: score=2 STRING: ENSP00000382004
ITGB4	P16144³, ENSP00000200181⁴	I2D: score=2 STRING: ENSP00000200181
KRT18	P05783³, ENSP00000373487⁴	I2D: score=2 STRING: ENSP00000373487
LAD1	O00515³, ENSP00000375829⁴	I2D: score=1 STRING: ENSP00000375829

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007160	cell-matrix adhesion	TAS	9012408
GO:0008544	epidermis development	TAS	9012408
GO:0030198	extracellular matrix organization	TAS	--
GO:0031581	hemidesmosome assembly	TAS	--
GO:0034329	cell junction assembly	TAS	--

COL17A1 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

COL17A1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for COL17A1
10/11 Novoseek chemical compound relationships for COL17A1 gene (see all 11) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
batimastat	42.3	2	11710917 (1), 11978564 (1)
calcium	1.28	2	16906396 (2)
nacl	0	1	9242508 (1)
phenylalanine	0	1	9087447 (1)
sucrose	0	1	8662839 (1)
steroid	0	3	8689764 (2), 17596158 (1)
tyrosine	0	2	9087447 (1), 9660880 (1)
gold	0	1	7682575 (1)
proline	0	2	10022517 (1), 1846881 (1)
serine	0	1	11912005 (1)

Search CenterWatch for drugs/clinical trials and news about COL17A1 / COHA1

(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, 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 COL17A1 gene (2 alternative transcripts):

NM_000494.3 NM_130778.1

Unigene Clusters for COL17A1:

Collagen, type XVII, alpha 1

Hs.117938 [show with all ESTs], Hs.732773 [show with all ESTs]

Unigene Representative Sequences: NM_000494, AI671290

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000353479(uc001kxr.3) ENST00000369733(uc010qqv.1 uc009xxp.1)

ENST00000433822(uc001kxq.3) ENST00000480127 ENST00000393211 ENST00000488320

ENST00000483876

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		8 QIAGEN miScript miRNA Assays for microRNAs that regulate COL17A1:
		hsa-miR-411* hsa-miR-203 hsa-miR-548am hsa-miR-379* hsa-miR-4287 hsa-miR-548t hsa-miR-548x hsa-miR-384

		SwitchGear 3'UTR luciferase reporter plasmid: COL17A1 3' UTR sequence

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Additional cDNA sequence: AF136186.1

17 DOTS entries:

DT.441052 DT.100780356 DT.121269578 DT.95197672 DT.86846102 DT.102310 DT.100780362 DT.121634602

DT.91887089 DT.91921785 DT.92001624 DT.92008549 DT.95197679 DT.121269571 DT.121269576 DT.121643178

DT.91813165

24/279 AceView cDNA sequences (see all 279):

BM908545 AF136185 BG680544 CB120762 AI373447 AW083397 AF136186 AA641352

AI637697 BE563325 AU076442 BM837978 BG290444 BG698306 AA128561 BM773425

BV205093 T29336 CB305772 AW573197 BG676959 CF528808 NM_000494 BE615848

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for COL17A1 (see all 8) About this scheme

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

ExUns:	26	^	27a	·	27b	^	28	^	29	^	30a	·	30b	^	31a	·	31b	·	31c	^	32	^	33	^	34a	·	34b	^	35
SP1:
SP2:
SP3:
SP4:
SP5:															-

ECgene alternative splicing isoforms for COL17A1

(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

COL17A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GATATGTTAT

About this image

COL17A1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Lung

Respiratory Bronchioles

Basal Cells

Lung

Trachea

Basal Cells

Lung

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See COL17A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for COL17A1

SOURCE GeneReport for Unigene clusters: Hs.117938 Hs.732773

UniProtKB/Swiss-Prot: COHA1_HUMAN, Q9UMD9

Tissue specificity: Stratified squamous epithelia. Found in hemidesmosomes. Expressed in cornea, oral mucosa,

esophagus, intestine, kidney collecting ducts, ureter, bladder, urethra and thymus but is absent in lung, blood

vessels, skeletal muscle and nerves

SABiosciences Custom PCR Arrays for COL17A1

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL17A1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL17A1

(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 COL17A1 gene from 5/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	COL17A1¹	collagen, type XVII, alpha 1	66.02(n) 65.18(a)		396503 XM_421744.3 XP_421744.3
lizard (Anolis carolinensis)	Reptilia	-- COL17A1⁶ (see all 3)	--	7(a) 62(a) (see all 3)	possible ortholog 1 ↔ 1 (see all 3)	5(3529736-3603275) 3(41416337-41482317)
zebrafish (Danio rerio)	Actinopterygii	col17a1b¹	collagen, type XVII, alpha 1b	54.86(n) 51.01(a)		568794 XM_692149.5 XP_697241.3
fruit fly (Drosophila melanogaster)	Insecta	pygo⁶	pygopus	9(a)	possible ortholog	3R(27401557-27406412)
worm (Caenorhabditis elegans)	Secernentea	bli-1⁶ sqt-3⁶ (see all 49)	Cuticle collagen 1 (see all 49)	9(a) 35(a) (see all 49)	possible ortholog possible ortholog (see all 49)	II(10708901-10712066) V(12352975-12354295)

ENSEMBL Gene Tree for COL17A1 (if available)
TreeFam Gene Tree for COL17A1 (if available)

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

Paralogs for COL17A1 gene

EDA²

8 SIMAP similar genes for COL17A1 using alignment to 4 protein entries: COHA1_HUMAN (see all proteins):

COL11A2 COL16A1 SFTPD COL24A1 MSR1 C1QTNF9

C1QTNF9B COL1A1

COL17A1 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 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121912771^1,2	C,	pathogenic	137838361(-)	`CAGGCA/GGGGCA`	2	Q R	mis¹		0	--	--	--	--
rs77080242^1,2	C,	--	99421822(+)	`NNNNCA/TTCTTG`	1	--	ds500¹		0	--	--	--	--
rs9425^1,2	C,F,O,A,H,	--	99422409(-)	`TGTCCG/ATAGGC`	1	--	ut3¹ ese³		23		MN NS EA NA WA CSA	2720
rs113786874^1,2	C,	--	99422684(+)	`GGCTC-/ATATTT`	1	--	ut3¹		1		CSA	2
rs12253626^1,2	F,	--	99422973(+)	`TTCACC/ACTCTG`	1	--	ut3¹ ese³		1		WA	118
rs805687^1,2	C,F,O,A,H,	--	99422983(+)	`GGAGAC/GCTTGG`	1	--	ut3¹ ese³		18		MN NA NS EA WA CSA	1120
rs7070816^1,2	C,F,A,H,	--	99423619(+)	`CTGAGG/AGCACA`	1	--	int¹		10		NS EA NA WA CSA	692
rs77323814^1,2	F,	--	99423831(+)	`AAGCTT/GGGGAC`	1	--	int¹		1		WA	118
rs111445444^1,2	C	--	99424049(+)	`CCTTAG/CTTTGG`	1	--	spd¹		1		CSA	1
rs113726462^1,2	C	--	99424188(+)	`CTGACG/CTGTAA`	1	--	spa¹		1		CSA	1

HapMap Linkage Disequilibrium report for COL17A1 (105791044 - 105845760 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for COL17A1
1 Indel: 101032
Human Gene Mutation Database (HGMD): COL17A1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COL17A1

DNA2.0 Custom Variant and Variant Library Synthesis for COL17A1

(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

COL17A1 for disorders           About GeneDecksing

OMIM gene information: 113811
OMIM disorders: 226650
UniProtKB/Swiss-Prot: COHA1_HUMAN, Q9UMD9

Defects in COL17A1 are a cause of generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650].

GABEB is a non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the

skin, associated with hair and tooth abnormalities

20/35 diseases for COL17A1 (see all 35): About MalaCards

epidermolysis bullosa junctional epidermolysis bullosa bullous pemphigoid epidermolysis bullosa acquisita

epidermolysis bullosa simplex amelogenesis imperfecta dental enamel hypoplasia herpes gestationis

lichen planus pemphigoid gestationis cicatricial pemphigoid lichen sclerosus

skin disease bullous skin disease ectodermal dysplasia corneal dystrophy

aggressive periodontitis motor neuron disease basal cell carcinoma squamous cell carcinoma

5 diseases from the University of Copenhagen DISEASES database for COL17A1:

Bullous pemphigoid Epidermolysis bullosa Cicatricial pemphigoid Herpes gestationis

Lichen planus

10/27 Novoseek disease relationships for COL17A1 gene (see all 27) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
gabeb	97.7	91	8629821 (6), 9077475 (5), 9521865 (4), 7883981 (4) (see all 30)
pemphigoid bullous	97.7	318	9326393 (6), 12788530 (6), 12445194 (5), 11710917 (5) (see all 99)
epidermolysis bullosa junctional	94.7	33	9284104 (2), 17263807 (2), 8618019 (2), 15377356 (2) (see all 26)
herpes gestationis	92.3	15	8228259 (2), 8592065 (2), 10479533 (1), 8113038 (1) (see all 13)
pemphigoid cicatricial	90.1	20	12788530 (7), 8752852 (2), 12399776 (1), 18637895 (1) (see all 12)
skin diseases bullous	89	2	1748679 (1), 1512460 (1)
epidermolysis bullosa	81.9	10	9804354 (3), 17657247 (2), 16252234 (1), 17476356 (1) (see all 5)
epidermolysis bullosa acquisita	79.8	2	8752852 (1), 19515044 (1)
skin diseases	78.3	25	9804354 (3), 18094948 (2), 7682575 (1), 9077469 (1) (see all 20)
epidermolysis bullosa simplex	73.5	4	11851893 (1), 15377356 (1), 14626817 (1), 1686013 (1)

GeneTests: COL17A1

Junctional Epidermolysis Bullosa

Genetic Association Database (GAD): COL17A1
Human Genome Epidemiology (HuGE) Navigator: COL17A1 (5 documents)

Export disorders for COL17A1 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 COL17A1 gene, integrated from 9 sources (see all 294):
(articles sorted by number of sources associating them with COL17A1)

Utopia: connect your pdf to the dynamic
world of online information

Cloning and primary structural analysis of the bullous pemphigoid autoantigen, BP180. (PubMed id 1324962)^{1, 2, 9} Giudice G.J.... Diaz L.A. (1992)
A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa. (PubMed id 11912005)^{1, 2, 9} Wu Y.... Zhu X. (2002)
Genetic variation in COL17A1 and the development of bullous pemphigoid. (PubMed id 14987253)^{1, 4, 9} Winsey S....Wojnarowska F. (2004)
Genomic organization of collagenous domains and chromosomal assignment of human 180-kDa bullous pemphigoid antigen-2, a novel collagen of stratified squamous epithelium. (PubMed id 1748679)^{1, 2, 9} Li K.H.... Uitto J. (1991)
Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa. (PubMed id 9012408)^{1, 2, 9} Gatalica B.... Uitto J. (1997)
Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. (PubMed id 15081423)^{1, 4, 9} Suzuki A....Kamoi K. (2004)
Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa. (PubMed id 9199555)^{1, 2, 9} Schumann H.... Bruckner-Tuderman L. (1997)
Extracellular phosphorylation of collagen XVII by ecto-casein kinase 2 inhibits ectodomain shedding. (PubMed id 17545155)^{1, 2} Zimina E.P....Bruckner-Tuderman L. (2007)
The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)^{1, 2} Deloukas P.... Rogers J. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)

(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: 1308	HGNC: 2194	AceView: COL17A1	Ensembl:ENSG00000065618	euGenes: HUgn1308
ECgene: COL17A1	Kegg: 1308	H-InvDB: COL17A1

(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 COL17A1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL17A1

Intellectual Property for COL17A1 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 COL17A1 gene:
Search GeneIP for patents involving COL17A1

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

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COL17A1 Gene

collagen, type XVII, alpha 1

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HERPES
Pemphigoid Bullous
Autoimmune Diseases
Amelogenesis Imperfecta
immunopathology
Herpes Gestationis
Epidermolysis Bullosa Acquisita
Epidermolysis Bullosa
Carcinoma Basal Cell
OVARIAN CARCINOMA
Epidermolysis Bullosa Junctional
Pemphigoid Cicatricial
Carcinoma
Carcinoma Squamous Cell
SKIN LESION
Enamel hypoplasia
Autoimmune Response
GABEB
Atrophy
Skin Diseases
Skin Diseases Genetic
Epidermolysis Bullosa Simplex
Tumors
Skin Diseases Bullous
Junctional Epidermolysis Bullosa
Autoimmunity
Lichen Planus
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COL17A1 Gene

collagen, type XVII, alpha 1

Aliasesfor COL17A1 gene

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