Tissue expression of GJB1 - Summary - The Human Protein Atlas

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GJB1

TISSUE

CELL

CANCER

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	GJB1
Gene description	Gap junction protein, beta 1, 32kDa
Protein class	Disease related genes Potential drug targets Predicted membrane proteins Transporters
Predicted localization	Membrane
Number of transcripts	4
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Tissue enhanced (liver)
GTEx:	Tissue enhanced (liver)
FANTOM5:	Tissue enhanced (liver, pancreas)

Protein evidence

Evidence at protein level

Protein expression

Cytoplasmic and membranous expression in several tissues.

DATA RELIABILITY
Data reliability description	Antibody staining mainly not consistent with RNA expression data.
Reliability score	Uncertain based on 1 antibody. CAB012994
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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 enhanced (liver)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (liver)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (liver, pancreas)

GENE INFORMATION
Gene name	GJB1 (HGNC Symbol)
Synonyms	CMTX, CMTX1, CX32
Description	Gap junction protein, beta 1, 32kDa (HGNC Symbol)
Entrez gene summary	This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008]
Chromosome	X
Cytoband	q13.1
Chromosome location (bp)	71215194 - 71225516
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000169562 (version 83.38)
Entrez gene	2705
UniProt	P08034 (UniProt - Evidence at protein level)
neXtProt	NX_P08034
Antibodypedia	GJB1 antibodies

PROTEIN BROWSER

GJB1-001	GJB1-002	GJB1-003	GJB1-004

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
GJB1-001 ENSP00000363134 ENST00000374022	P08034 [Direct mapping] Gap junction beta-1 protein Show all	Transporters Transporter channels and pores 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 4TM proteins predicted by MDM Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Show all	GO:0005243 [gap junction channel activity] GO:0005737 [cytoplasm] GO:0005783 [endoplasmic reticulum] GO:0005789 [endoplasmic reticulum membrane] GO:0005886 [plasma membrane] GO:0005921 [gap junction] GO:0005922 [connexon complex] GO:0006810 [transport] GO:0007154 [cell communication] GO:0007267 [cell-cell signaling] GO:0007399 [nervous system development] GO:0015868 [purine ribonucleotide transport] GO:0016021 [integral component of membrane] GO:0016264 [gap junction assembly] GO:0042803 [protein homodimerization activity] GO:0051259 [protein oligomerization] GO:0055085 [transmembrane transport] GO:0061024 [membrane organization] Show all	283 aa 32 kDa	No	4
GJB1-002 ENSP00000354900 ENST00000361726	P08034 [Direct mapping] Gap junction beta-1 protein Show all	Transporters Transporter channels and pores 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 4TM proteins predicted by MDM Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Show all	GO:0005789 [endoplasmic reticulum membrane] GO:0005922 [connexon complex] GO:0006810 [transport] GO:0007154 [cell communication] GO:0007267 [cell-cell signaling] GO:0007399 [nervous system development] GO:0016021 [integral component of membrane] GO:0016264 [gap junction assembly] GO:0061024 [membrane organization] Show all	283 aa 32 kDa	No	4
GJB1-003 ENSP00000363141 ENST00000374029	P08034 [Direct mapping] Gap junction beta-1 protein Show all	Transporters Transporter channels and pores 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 4TM proteins predicted by MDM Disease related genes Potential drug targets Show all	GO:0005789 [endoplasmic reticulum membrane] GO:0005922 [connexon complex] GO:0006810 [transport] GO:0007154 [cell communication] GO:0007267 [cell-cell signaling] GO:0007399 [nervous system development] GO:0016021 [integral component of membrane] GO:0016264 [gap junction assembly] GO:0061024 [membrane organization] Show all	283 aa 32 kDa	No	4
GJB1-004 ENSP00000407223 ENST00000447581	C9JWU8 [Direct mapping] Gap junction protein 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 Show all	GO:0005922 [connexon complex] GO:0007154 [cell communication] GO:0016021 [integral component of membrane] Show all	84 aa 9.5 kDa	No	1

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The Human Protein Atlas

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