Expression of GJB1 in cancer - Summary - The Human Protein Atlas

CANCER ATLAS

Gene description

Gap junction protein, beta 1, 32kDa

Protein class

Disease related genes, Potential drug targets, Predicted membrane proteins, Transporters

Protein evidence

Evidence at protein level

Colorectal cancer

Breast cancer

Prostate cancer

Lung cancer

Liver cancer

STAINING SUMMARY

CAB012994

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