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DSG1

GENERAL INFORMATION

Gene name

 DSG1

Gene description

 Desmoglein 1

Protein class

 Disease related genes
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

 Intracellular,Membrane

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enriched (skin)
GTEx:Tissue enriched (skin)
FANTOM5:Group enriched (cervix, uterine, esophagus)

Protein evidence

 Evidence at protein level

Protein expression

 Distinct cytoplasmic and membranous expression in squamous epithelia.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA022128 , CAB009394
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Skin

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 enriched (skin)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (cervix, uterine, esophagus)

GENE INFORMATION

Gene name

 DSG1 (HGNC Symbol)

Synonyms

 CDHF4, DSG

Description

 Desmoglein 1 (HGNC Symbol)

Entrez gene summary

 This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmoglein family members on chromosome 18. The encoded protein has been identified as a target of auto-antibodies in the autoimmune skin blistering disease pemphigus foliaceus. Disruption of this gene has also been associated with the skin diseases palmoplantar keratoderma and erythroderma. [provided by RefSeq, Feb 2015]

Chromosome

 18

Cytoband

 q12.1

Chromosome location (bp)

 31318089 - 31357029

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000134760 (version 83.38)

Entrez gene

 1828

UniProt

 Q02413 (UniProt - Evidence at protein level)

neXtProt

 NX_Q02413

Antibodypedia

 DSG1 antibodies

PROTEIN BROWSER
DSG1-001
DSG1-002

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
DSG1-001
ENSP00000257192
ENST00000257192
Q02413 [Direct mapping]
Desmoglein-1
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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
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0005911 [cell-cell junction]
GO:0006915 [apoptotic process]
GO:0006921 [cellular component disassembly involved in execution phase of apoptosis]
GO:0007043 [cell-cell junction assembly]
GO:0007155 [cell adhesion]
GO:0007156 [homophilic cell adhesion via plasma membrane adhesion molecules]
GO:0009898 [cytoplasmic side of plasma membrane]
GO:0012501 [programmed cell death]
GO:0015643 [toxic substance binding]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016324 [apical plasma membrane]
GO:0016328 [lateral plasma membrane]
GO:0016337 [single organismal cell-cell adhesion]
GO:0016339 [calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules]
GO:0030057 [desmosome]
GO:0032570 [response to progesterone]
GO:0045295 [gamma-catenin binding]
GO:0050821 [protein stabilization]
GO:0060135 [maternal process involved in female pregnancy]
GO:0070062 [extracellular exosome]
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 1049 aa
113.7 kDa 		Yes 1
DSG1-002
ENSP00000462666
ENST00000462981
Q02413 [Direct mapping]
Desmoglein-1
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Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0005911 [cell-cell junction]
GO:0006915 [apoptotic process]
GO:0006921 [cellular component disassembly involved in execution phase of apoptosis]
GO:0007043 [cell-cell junction assembly]
GO:0007156 [homophilic cell adhesion via plasma membrane adhesion molecules]
GO:0009898 [cytoplasmic side of plasma membrane]
GO:0012501 [programmed cell death]
GO:0015643 [toxic substance binding]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016337 [single organismal cell-cell adhesion]
GO:0016339 [calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules]
GO:0030057 [desmosome]
GO:0045295 [gamma-catenin binding]
GO:0050821 [protein stabilization]
GO:0070062 [extracellular exosome]
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 408 aa
42.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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