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COL17A1

GENERAL INFORMATION

Gene name

 COL17A1

Gene description

 Collagen, type XVII, alpha 1

Protein class

 Cancer-related genes
Disease related genes
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

 Intracellular,Membrane

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Tissue enhanced (head and neck cancer)
HPA (cell line):Group enriched (CAPAN-2, HaCaT, hTCEpi)
HPA (normal tissue):Tissue enriched (skin)

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Cytoplasmic and membranous expression in basal layer of squamous epithelia.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data. Presumed off target binding observed and disregarded.

Reliability score

 Supported based on 2 antibodies.
HPA043673 , HPA052963
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PROGNOSTIC SUMMARY
Prognostic marker in breast cancer (favourable) and pancreatic cancer (unfavourable).
Breast cancer p<0.001
Pancreatic cancer p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Tissue enhanced (head and neck cancer)

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Skin cancer

STAINING SUMMARY
HPA043673
HPA052963

GENE INFORMATION

Gene name

 COL17A1 (HGNC Symbol)

Synonyms

 BP180, BPAG2

Description

 Collagen, type XVII, alpha 1 (HGNC Symbol)

Entrez gene summary

 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]

Chromosome

 10

Cytoband

 q25.1

Chromosome location (bp)

 104031286 - 104086002

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000065618 (version 83.38)

Entrez gene

 1308

UniProt

 Q9UMD9 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9UMD9

Antibodypedia

 COL17A1 antibodies

PROTEIN BROWSER
COL17A1-001
COL17A1-002
COL17A1-003
COL17A1-007

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
COL17A1-001
ENSP00000340937
ENST00000353479
Q9UMD9 [Direct mapping]
Collagen alpha-1(XVII) chain 120 kDa linear IgA disease antigen 97 kDa linear IgA disease antigen
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Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005581 [collagen trimer]
GO:0005604 [basement membrane]
GO:0005788 [endoplasmic reticulum lumen]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0005911 [cell-cell junction]
GO:0007160 [cell-matrix adhesion]
GO:0008544 [epidermis development]
GO:0022617 [extracellular matrix disassembly]
GO:0030056 [hemidesmosome]
GO:0030198 [extracellular matrix organization]
GO:0030574 [collagen catabolic process]
GO:0031581 [hemidesmosome assembly]
GO:0034329 [cell junction assembly]
GO:0050776 [regulation of immune response]
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 1497 aa
150.4 kDa 		No 1
COL17A1-002
ENSP00000388832
ENST00000433822
H0Y420 [Direct mapping]
Collagen alpha-1(XVII) chain
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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 66 aa
6.6 kDa 		No 0
COL17A1-003
ENSP00000358748
ENST00000369733
Q9UMD9 [Direct mapping]
Collagen alpha-1(XVII) chain 120 kDa linear IgA disease antigen 97 kDa linear IgA disease antigen
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005581 [collagen trimer]
GO:0005604 [basement membrane]
GO:0005788 [endoplasmic reticulum lumen]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0005911 [cell-cell junction]
GO:0007160 [cell-matrix adhesion]
GO:0008544 [epidermis development]
GO:0022617 [extracellular matrix disassembly]
GO:0030056 [hemidesmosome]
GO:0030198 [extracellular matrix organization]
GO:0030574 [collagen catabolic process]
GO:0031581 [hemidesmosome assembly]
GO:0034329 [cell junction assembly]
GO:0050776 [regulation of immune response]
Show all
 1415 aa
142.3 kDa 		No 1
COL17A1-007
ENSP00000376905
ENST00000393211
A2A2Y8 [Direct mapping]
Collagen alpha-1(XVII) chain
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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 417 aa
44.1 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.