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Gene name

Class

Subclass

Chromosome

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In atlas

Reliability

Reliability

Reliability

Validation

Method

Validation

Method

Validation

Method

Validation

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Searches

Tissue

Cell type

Expression

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Specificity

Cell line

Specificity

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Detectable

Cell line

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GJA1
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    TISSUE

  • CELL

  • CANCER

TISSUE ATLAS PRIMARY DATA
MOUSE BRAIN

GENE/PROTEIN

Antibody validation


Dictionary


Tissue proteome

GENERAL INFORMATION

Gene name

GJA1

Gene description

Gap junction protein, alpha 1, 43kDa

Protein class

Cancer-related genes
Disease related genes
Predicted membrane proteins

Predicted localization

Membrane

Number of transcripts

1
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:Tissue enhanced (parathyroid gland)
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

Evidence at protein level

Protein expression

Cytoplasmic and membranous expression in most cell types.

DATA RELIABILITY

Data reliability
description

Antibody staining consistent with RNA expression data.

Reliability score

Supported based on 2 antibodies.
HPA035097 , CAB010753
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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

Parathyroid gland

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW

Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW

HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (parathyroid gland)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

GJA1 (HGNC Symbol)

Synonyms

CX43, GJAL, ODD, ODDD, ODOD, SDTY3

Description

Gap junction protein, alpha 1, 43kDa (HGNC Symbol)

Entrez gene summary

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014]

Chromosome

6

Cytoband

q22.31

Chromosome location (bp)

121435692 - 121449727

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000152661 (version 83.38)

Entrez gene

2697

UniProt

P17302 (UniProt - Evidence at protein level)

neXtProt

NX_P17302

Antibodypedia

GJA1 antibodies

PROTEIN BROWSER

GJA1-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GJA1-001
ENSP00000282561
ENST00000282561
P17302 [Direct mapping]
Gap junction alpha-1 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
   4TM proteins predicted by MDM
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139 [Golgi membrane]
GO:0001649 [osteoblast differentiation]
GO:0001701 [in utero embryonic development]
GO:0001764 [neuron migration]
GO:0001937 [negative regulation of endothelial cell proliferation]
GO:0001947 [heart looping]
GO:0002027 [regulation of heart rate]
GO:0002070 [epithelial cell maturation]
GO:0002088 [lens development in camera-type eye]
GO:0002544 [chronic inflammatory response]
GO:0003104 [positive regulation of glomerular filtration]
GO:0003158 [endothelium development]
GO:0003294 [atrial ventricular junction remodeling]
GO:0004871 [signal transducer activity]
GO:0005102 [receptor binding]
GO:0005243 [gap junction channel activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005741 [mitochondrial outer membrane]
GO:0005764 [lysosome]
GO:0005768 [endosome]
GO:0005769 [early endosome]
GO:0005770 [late endosome]
GO:0005771 [multivesicular body]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005794 [Golgi apparatus]
GO:0005829 [cytosol]
GO:0005882 [intermediate filament]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0005911 [cell-cell junction]
GO:0005916 [fascia adherens]
GO:0005921 [gap junction]
GO:0005922 [connexon complex]
GO:0005925 [focal adhesion]
GO:0006810 [transport]
GO:0006915 [apoptotic process]
GO:0006936 [muscle contraction]
GO:0007154 [cell communication]
GO:0007165 [signal transduction]
GO:0007204 [positive regulation of cytosolic calcium ion concentration]
GO:0007267 [cell-cell signaling]
GO:0007507 [heart development]
GO:0007512 [adult heart development]
GO:0008016 [regulation of heart contraction]
GO:0008285 [negative regulation of cell proliferation]
GO:0009268 [response to pH]
GO:0009749 [response to glucose]
GO:0010232 [vascular transport]
GO:0010628 [positive regulation of gene expression]
GO:0010629 [negative regulation of gene expression]
GO:0010643 [cell communication by chemical coupling]
GO:0010644 [cell communication by electrical coupling]
GO:0010652 [positive regulation of cell communication by chemical coupling]
GO:0014704 [intercalated disc]
GO:0015075 [ion transmembrane transporter activity]
GO:0015867 [ATP transport]
GO:0016020 [membrane]
GO:0016264 [gap junction assembly]
GO:0016324 [apical plasma membrane]
GO:0016328 [lateral plasma membrane]
GO:0017124 [SH3 domain binding]
GO:0019904 [protein domain specific binding]
GO:0030054 [cell junction]
GO:0030165 [PDZ domain binding]
GO:0030308 [negative regulation of cell growth]
GO:0030500 [regulation of bone mineralization]
GO:0030660 [Golgi-associated vesicle membrane]
GO:0032024 [positive regulation of insulin secretion]
GO:0034220 [ion transmembrane transport]
GO:0034405 [response to fluid shear stress]
GO:0035050 [embryonic heart tube development]
GO:0042733 [embryonic digit morphogenesis]
GO:0043123 [positive regulation of I-kappaB kinase/NF-kappaB signaling]
GO:0043292 [contractile fiber]
GO:0043403 [skeletal muscle tissue regeneration]
GO:0043434 [response to peptide hormone]
GO:0045121 [membrane raft]
GO:0045216 [cell-cell junction organization]
GO:0045669 [positive regulation of osteoblast differentiation]
GO:0045732 [positive regulation of protein catabolic process]
GO:0045844 [positive regulation of striated muscle tissue development]
GO:0045907 [positive regulation of vasoconstriction]
GO:0045909 [positive regulation of vasodilation]
GO:0046850 [regulation of bone remodeling]
GO:0048487 [beta-tubulin binding]
GO:0048514 [blood vessel morphogenesis]
GO:0048812 [neuron projection morphogenesis]
GO:0051259 [protein oligomerization]
GO:0051924 [regulation of calcium ion transport]
GO:0055085 [transmembrane transport]
GO:0060044 [negative regulation of cardiac muscle cell proliferation]
GO:0060156 [milk ejection]
GO:0060307 [regulation of ventricular cardiac muscle cell membrane repolarization]
GO:0060371 [regulation of atrial cardiac muscle cell membrane depolarization]
GO:0060373 [regulation of ventricular cardiac muscle cell membrane depolarization]
GO:0061024 [membrane organization]
GO:0061045 [negative regulation of wound healing]
GO:0061337 [cardiac conduction]
GO:0070062 [extracellular exosome]
GO:0071253 [connexin binding]
GO:0071260 [cellular response to mechanical stimulus]
GO:0086014 [atrial cardiac muscle cell action potential]
GO:0086064 [cell communication by electrical coupling involved in cardiac conduction]
GO:0086075 [gap junction channel activity involved in cardiac conduction electrical coupling]
GO:0097110 [scaffold protein binding]
GO:1903763 [gap junction channel activity involved in cell communication by electrical coupling]
GO:2000279 [negative regulation of DNA biosynthetic process]
GO:2000810 [regulation of bicellular tight junction assembly]
GO:2000987 [positive regulation of behavioral fear response]
Show all
382 aa
43 kDa
No 4

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