GJA1 (gap junction protein alpha 1) - Rat Genome Database

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Gene: GJA1 (gap junction protein alpha 1) Sus scrofa
Analyze
Symbol: GJA1
Name: gap junction protein alpha 1
RGD ID: 14058191
Description: ENCODES a protein that exhibits alpha-tubulin binding (ortholog); beta-tubulin binding (ortholog); connexin binding (ortholog); INVOLVED IN cellular response to platelet-derived growth factor stimulus; positive regulation of smooth muscle cell chemotaxis; response to ischemia; PARTICIPATES IN connexin signaling pathway; N-cadherin signaling pathway; ASSOCIATED WITH Acute Lung Injury (ortholog); adenoma (ortholog); alcohol use disorder (ortholog); FOUND IN apical plasma membrane; cell-cell junction; cytoplasm; INTERACTS WITH chlorpyrifos; deoxynivalenol; doxorubicin
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: connexin 43; CX43; gap junction alpha-1 protein; gap junction protein, alpha 1, 43kDa
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: Sscrofa11.1 - Pig Sscrofa11.1 Assembly
Position:
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl140,988,528 - 41,002,156 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1140,988,818 - 41,002,129 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2145,543,880 - 45,557,193 (-)NCBISscrofa10.2Sscrofa10.2susScr3
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Acute Lung Injury  (ISO)
adenoma  (ISO)
alcohol use disorder  (ISO)
amnestic disorder  (ISO)
arrhythmogenic right ventricular cardiomyopathy  (ISO)
atrial fibrillation  (ISO)
Atrioventricular Septal Defect 3  (ISO)
Atrioventricular Septal Defect and Common Atrioventricular Junction  (ISO)
autistic disorder  (ISO)
autoimmune thyroiditis  (ISO)
autosomal recessive craniometaphyseal dysplasia  (ISO)
Basaran Yilmaz Syndrome  (ISO)
borna disease  (ISO)
Brain Injuries  (ISO)
brain ischemia  (ISO)
Breast Neoplasms  (ISO)
Cardiac Arrhythmias  (ISO)
Cardiac Fibrosis  (ISO)
chronic kidney disease  (ISO)
Chylothorax  (ISO)
coronary aneurysm  (ISO)
Diabetic Foot  (ISO)
Diaphragmatic Hernia  (ISO)
dilated cardiomyopathy  (ISO)
Disease Progression  (ISO)
erythrokeratodermia variabilis  (ISO)
erythrokeratodermia variabilis et progressiva 3  (ISO)
Experimental Arthritis  (ISO)
Experimental Diabetes Mellitus  (ISO)
Experimental Liver Cirrhosis  (ISO)
Experimental Seizures  (ISO)
genetic disease  (ISO)
Hearing Loss  (ISO)
Hemorrhagic Shock  (ISO)
hereditary lymphedema IA  (ISO)
high grade glioma  (ISO)
Huntington's disease  (ISO)
Hyperalgesia  (ISO)
hypertension  (ISO)
hypoplastic left heart syndrome  (ISO)
Hypoplastic Left Heart Syndrome 1  (ISO)
impotence  (ISO)
ischemia  (ISO)
Lung Neoplasms  (ISO)
Lymphatic Abnormalities  (ISO)
microphthalmia  (ISO)
myocardial infarction  (ISO)
Myocardial Reperfusion Injury  (ISO)
myocarditis  (ISO)
Neuralgia  (ISO)
Nonsyndromic Sensorineural Hearing Loss  (ISO)
oculodentodigital dysplasia  (ISO)
Oculodentodigital Dysplasia, Autosomal Recessive  (ISO)
overactive bladder syndrome  (ISO)
palmoplantar keratoderma and congenital alopecia 1  (ISO)
palmoplantar keratosis  (ISO)
Parkinsonism  (ISO)
Prostatic Neoplasms  (ISO)
pulmonary hypertension  (ISO)
renovascular hypertension  (ISO)
Right Ventricular Hypertrophy  (ISO)
Schwartz-Lelek Syndrome  (ISO)
Skin Neoplasms  (ISO)
Spinal Cord Injuries  (ISO)
Sudden Cardiac Death  (ISO)
syndactyly  (ISO)
syndactyly type 3  (ISO)
syndactyly type 5  (ISO)
tetralogy of Fallot  (ISO)
tongue squamous cell carcinoma  (ISO)
transient cerebral ischemia  (ISO)
type 2 diabetes mellitus  (ISO)
urethral obstruction  (ISO)
Vascular Remodeling  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adult heart development  (ISO)
ATP transport  (ISO)
atrial ventricular junction remodeling  (ISO)
blood vessel morphogenesis  (ISO)
bone development  (ISS)
bone remodeling  (ISS)
cardiac conduction  (ISO)
cell communication  (IEA)
cell communication by chemical coupling  (ISO)
cell communication by electrical coupling  (IBA,IEA,ISO)
cell-cell junction organization  (ISO)
cell-cell signaling  (IBA,IEA,ISO)
cellular response to amyloid-beta  (ISO)
cellular response to mechanical stimulus  (ISO)
cellular response to parathyroid hormone stimulus  (ISO)
cellular response to pH  (ISO)
cellular response to platelet-derived growth factor stimulus  (IDA)
chronic inflammatory response  (ISO)
columnar/cuboidal epithelial cell maturation  (ISO)
decidualization  (ISO)
embryonic digit morphogenesis  (ISO)
embryonic heart tube development  (ISO)
endothelium development  (ISO)
epididymis development  (ISO)
establishment of mitotic spindle orientation  (IEA)
export across plasma membrane  (ISO)
glutamate secretion  (ISO)
heart development  (IBA,IEA,ISO)
heart looping  (ISO)
in utero embryonic development  (ISO)
lens development in camera-type eye  (ISO)
maintenance of protein localization in endoplasmic reticulum  (ISO)
male gonad development  (ISO)
microtubule-based transport  (ISS)
milk ejection reflex  (ISO)
monoatomic ion transmembrane transport  (IEA)
negative regulation of cardiac muscle cell proliferation  (ISO)
negative regulation of cell growth  (ISS)
negative regulation of cell population proliferation  (ISO)
negative regulation of DNA biosynthetic process  (ISO)
negative regulation of endothelial cell proliferation  (ISO)
negative regulation of gene expression  (ISO)
negative regulation of gonadotropin secretion  (IEA)
negative regulation of trophoblast cell migration  (IEA)
neuroblast migration  (ISO)
neuron migration  (ISO)
neuron projection morphogenesis  (ISO)
osteoblast differentiation  (ISO)
positive regulation of behavioral fear response  (ISO)
positive regulation of canonical NF-kappaB signal transduction  (ISO)
positive regulation of cell communication by chemical coupling  (ISO)
positive regulation of cold-induced thermogenesis  (ISO)
positive regulation of cytosolic calcium ion concentration  (ISO)
positive regulation of establishment of Sertoli cell barrier  (ISO)
positive regulation of gene expression  (IEA,ISO)
positive regulation of glomerular filtration  (ISO)
positive regulation of insulin secretion  (ISO)
positive regulation of meiotic nuclear division  (ISO)
positive regulation of mesodermal cell differentiation  (IEA)
positive regulation of morphogenesis of an epithelium  (IEA)
positive regulation of protein catabolic process  (ISO)
positive regulation of smooth muscle cell chemotaxis  (IMP)
positive regulation of stem cell proliferation  (IEA)
positive regulation of striated muscle tissue development  (ISO)
positive regulation of vascular associated smooth muscle cell proliferation  (IEA)
positive regulation of vasoconstriction  (ISO)
protein localization  (IEA)
regulation of actin filament organization  (ISO)
regulation of apoptotic process  (ISS)
regulation of atrial cardiac muscle cell membrane depolarization  (ISO)
regulation of bicellular tight junction assembly  (ISO)
regulation of bone mineralization  (ISO)
regulation of bone remodeling  (ISO)
regulation of calcium ion transport  (ISO)
regulation of cell communication by electrical coupling  (ISO)
regulation of heart contraction  (ISO)
regulation of transmembrane transporter activity  (ISO)
regulation of ventricular cardiac muscle cell membrane depolarization  (ISO)
regulation of ventricular cardiac muscle cell membrane repolarization  (ISO)
response to estradiol  (ISO)
response to fluid shear stress  (ISO)
response to glucose  (ISO)
response to ischemia  (IDA,ISO)
response to lipopolysaccharide  (ISO)
response to peptide hormone  (ISO)
response to pH  (ISO)
response to retinoic acid  (ISO)
response to wounding  (IDA)
signal transduction  (IEA)
skeletal muscle tissue regeneration  (ISO)
spermatogenesis  (ISO,ISS)
T cell activation  (ISO)
T cell proliferation  (ISO)
transmembrane transport  (IEA,ISO)
vascular transport  (ISO)
vasodilation  (ISO)
xenobiotic transport  (ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
References
Additional References at PubMed
PMID:7593302   PMID:8832399   PMID:8889548   PMID:14637149   PMID:15083360   PMID:15919068   PMID:17407547   PMID:18239136   PMID:19228792   PMID:20149142   PMID:20558338   PMID:20977841  
PMID:21457361   PMID:21799069   PMID:21810432   PMID:22301074   PMID:22470101   PMID:22883636   PMID:23827822   PMID:23861906   PMID:24151599   PMID:25916165   PMID:27172054   PMID:30032202  
PMID:30054380   PMID:32036801   PMID:37866301  


Genomics

Comparative Map Data
GJA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl140,988,528 - 41,002,156 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1140,988,818 - 41,002,129 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2145,543,880 - 45,557,193 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GJA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386121,435,646 - 121,449,727 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6121,435,595 - 121,449,727 (+)EnsemblGRCh38hg38GRCh38
GRCh376121,756,792 - 121,770,873 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366121,798,444 - 121,812,572 (+)NCBINCBI36Build 36hg18NCBI36
Build 346121,798,486 - 121,812,571NCBI
Celera6122,501,175 - 122,515,303 (+)NCBICelera
Cytogenetic Map6q22.31NCBI
HuRef6119,340,180 - 119,354,307 (+)NCBIHuRef
CHM1_16122,020,550 - 122,034,679 (+)NCBICHM1_1
T2T-CHM13v2.06122,622,700 - 122,636,781 (+)NCBIT2T-CHM13v2.0
Gja1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391056,253,297 - 56,266,519 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1056,253,426 - 56,278,609 (+)EnsemblGRCm39 Ensembl
GRCm381056,377,300 - 56,390,419 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1056,377,330 - 56,402,513 (+)EnsemblGRCm38mm10GRCm38
MGSCv371056,097,106 - 56,110,225 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361056,065,762 - 56,078,833 (+)NCBIMGSCv36mm8
Celera1057,194,935 - 57,208,041 (+)NCBICelera
Cytogenetic Map10B4NCBI
cM Map1028.64NCBI
Gja1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82036,302,490 - 36,315,010 (+)NCBIGRCr8
mRatBN7.22035,756,007 - 35,768,481 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2035,755,991 - 35,768,582 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2036,781,640 - 36,794,110 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02036,172,425 - 36,184,894 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02036,899,378 - 36,911,849 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02037,876,650 - 37,889,097 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2037,876,650 - 37,889,089 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02039,612,080 - 39,624,555 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42035,409,815 - 35,422,262 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12035,423,614 - 35,436,057 (+)NCBI
Celera2037,095,121 - 37,107,568 (+)NCBICelera
Cytogenetic Map20q11NCBI
Gja1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554363,612,533 - 3,618,095 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554363,612,533 - 3,618,095 (+)NCBIChiLan1.0ChiLan1.0
GJA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25141,418,977 - 141,433,249 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16139,315,632 - 139,329,770 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06119,213,513 - 119,227,617 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16123,348,744 - 123,360,887 (+)NCBIpanpan1.1PanPan1.1panPan2
GJA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1160,941,772 - 60,944,694 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl160,929,097 - 60,942,936 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha161,750,272 - 61,753,194 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0161,130,176 - 61,143,784 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl161,130,100 - 61,143,793 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1161,052,769 - 61,055,708 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0160,868,101 - 60,871,024 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0161,515,138 - 61,518,103 (+)NCBIUU_Cfam_GSD_1.0
Gja1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946111,813,180 - 111,826,131 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366583,920,043 - 3,932,987 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366583,920,043 - 3,932,987 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GJA1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11352,397,291 - 52,410,341 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1352,396,109 - 52,410,339 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604024,676,777 - 24,690,833 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gja1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247989,359,004 - 9,364,313 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247989,358,996 - 9,364,413 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GJA1
353 total Variants

Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
circulatory system
ectoderm
endocrine system
endoderm
hemolymphoid system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
10 4 23 3 2 5 14 12 23 3 6 3

Sequence


Ensembl Acc Id: ENSSSCT00000004688   ⟹   ENSSSCP00000004580
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 Ensembl140,988,528 - 41,002,137 (-)Ensembl
Ensembl Acc Id: ENSSSCT00000062855   ⟹   ENSSSCP00000041147
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 Ensembl140,988,837 - 41,002,156 (-)Ensembl
RefSeq Acc Id: NM_001244212   ⟹   NP_001231141
RefSeq Status: VALIDATED
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1140,988,818 - 41,002,129 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001231141 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAR33087 (Get FASTA)   NCBI Sequence Viewer  
  AHW83659 (Get FASTA)   NCBI Sequence Viewer  
  CAA60018 (Get FASTA)   NCBI Sequence Viewer  
  CAC21170 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSSSCP00000004580
GenBank Protein Q29101 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001231141   ⟸   NM_001244212
- UniProtKB: Q6TYA4 (UniProtKB/Swiss-Prot),   Q29101 (UniProtKB/Swiss-Prot),   F1SF43 (UniProtKB/TrEMBL),   A0A287AB74 (UniProtKB/TrEMBL),   A0A4X1TJW2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSSSCP00000004580   ⟸   ENSSSCT00000004688
Ensembl Acc Id: ENSSSCP00000041147   ⟸   ENSSSCT00000062855
Protein Domains
Connexin N-terminal   Gap junction protein cysteine-rich


Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSSSCG00000004241 Ensembl, ENTREZGENE
Ensembl Transcript ENSSSCT00000004688 ENTREZGENE
Gene3D-CATH 1.20.1440.80 UniProtKB/Swiss-Prot
  1.20.5.1130 UniProtKB/Swiss-Prot
InterPro Alpha_helix_dom_sf UniProtKB/Swiss-Prot
  Connexin UniProtKB/Swiss-Prot
  Connexin43 UniProtKB/Swiss-Prot
  Connexin43_C UniProtKB/Swiss-Prot
  Connexin_C UniProtKB/Swiss-Prot
  Connexin_CCC UniProtKB/Swiss-Prot
  Connexin_CS UniProtKB/Swiss-Prot
  Connexin_N UniProtKB/Swiss-Prot
  Connexin_N_sf UniProtKB/Swiss-Prot
NCBI Gene GJA1 ENTREZGENE
PANTHER PTHR11984 UniProtKB/Swiss-Prot
  PTHR11984:SF33 UniProtKB/Swiss-Prot
Pfam Connexin UniProtKB/Swiss-Prot
  Connexin43 UniProtKB/Swiss-Prot
PRINTS CONNEXIN UniProtKB/Swiss-Prot
  CONNEXINA1 UniProtKB/Swiss-Prot
PROSITE CONNEXINS_1 UniProtKB/Swiss-Prot
  CONNEXINS_2 UniProtKB/Swiss-Prot
SMART CNX UniProtKB/Swiss-Prot
  Connexin_CCC UniProtKB/Swiss-Prot
Superfamily-SCOP SSF118220 UniProtKB/Swiss-Prot
UniProt A0A287AB74 ENTREZGENE
  A0A4X1TJW2 ENTREZGENE, UniProtKB/TrEMBL
  CXA1_PIG UniProtKB/Swiss-Prot
  F1SF43 ENTREZGENE, UniProtKB/TrEMBL
  Q29101 ENTREZGENE
  Q6TYA4 ENTREZGENE
  Q9GJX4_PIG UniProtKB/TrEMBL
UniProt Secondary Q6TYA4 UniProtKB/Swiss-Prot
VGNC ID VGNC:103098 ENTREZGENE