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GENE AND PROTEIN SUMMARY

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Gene name

GJB1

Description

gap junction protein, beta 1, 32kDa

Protein class

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Transporters

Protein evidence

High

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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

4 in total
4 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Cytoplasm

Additional location(s)

 

Staining summary

Localized to the cytoplasm.

Reliability (APE)

Very low

Antibodies in assay

HPA010663, CAB012994
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Ubiquitous cytoplasmic and membranous expression.

Tissue specificity

Expressed in 68 out of 82 cell types

Reliability (APE)

Medium

Antibodies in assay

HPA010663, CAB012994
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 13
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 14
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 92% of the cancers

Antibodies in assay

HPA010663, CAB012994
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA010663

CAB012994

HPA010663

CAB012994

A-431 Skin Not detected
ModerateNegative
A-549 Lung Not detected
CACO-2 Colon Medium
HEK 293 Embryonal kidney Not detected
HeLa Cervix Not detected
Hep-G2 Liver High
MCF-7 Pleural effusion Not detected
PC-3 Bone marrow Not detected
RT-4 Urinary bladder Low
U-2 OS Bone Not detected
Moderate
U-251 MG Brain Not detected
Weak

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA010663 pAb
CAB012994 mAb