Tissue expression of COL17A1 - Summary - The Human Protein Atlas

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COL17A1

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TISSUE

CELL

CANCER

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

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 tissue category

HPA:	Tissue enriched (skin)
GTEx:	Tissue enhanced (skin)
FANTOM5:	Tissue enhanced (placenta)

Protein evidence

Evidence at protein level

Protein expression

Cytoplasmic and membranous expression in basal layer of squamous epithelia.

DATA 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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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (skin)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (skin)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (placenta)

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 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 (Kim et al 2014) 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	1497 aa 150.4 kDa	No	1
COL17A1-002 ENSP00000388832 ENST00000433822	H0Y420 [Direct mapping] Collagen alpha-1(XVII) chain Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		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 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		417 aa 44.1 kDa	No	0

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The Project

The Human Protein Atlas

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