Gene GJA1 - ENSG00000152661 | NCBI Gene ID: 2697

Details for: GJA1

Gene ID: 2697

Symbol: GJA1

Ensembl ID: ENSG00000152661

Description: gap junction protein alpha 1

Associated with

Disease
(R-HSA-1643685)
Formation of annular gap junctions
(R-HSA-196025)
Gap junction degradation
(R-HSA-190873)
Gap junction trafficking
(R-HSA-190828)
Gap junction trafficking and regulation
(R-HSA-157858)
Infectious disease
(R-HSA-5663205)
Membrane trafficking
(R-HSA-199991)
Microtubule-dependent trafficking of connexons from golgi to the plasma membrane
(R-HSA-190840)
Oligomerization of connexins into connexons
(R-HSA-190704)
Regulation of gap junction activity
(R-HSA-191650)
Rho gtpase cycle
(R-HSA-9012999)
Rhoj gtpase cycle
(R-HSA-9013409)
Rhoq gtpase cycle
(R-HSA-9013406)
Sars-cov-2 infection
(R-HSA-9694516)
Sars-cov-2 targets pdz proteins in cell-cell junction
(R-HSA-9705677)
Sars-cov-2-host interactions
(R-HSA-9705683)
Sars-cov infections
(R-HSA-9679506)
Signaling by rho gtpases
(R-HSA-194315)
Signaling by rho gtpases, miro gtpases and rhobtb3
(R-HSA-9716542)
Transport of connexins along the secretory pathway
(R-HSA-190827)
Transport of connexons to the plasma membrane
(R-HSA-190872)
Vesicle-mediated transport
(R-HSA-5653656)
Viral infection pathways
(R-HSA-9824446)
Adult heart development
(GO:0007512)
Atrial cardiac muscle cell action potential
(GO:0086014)
Atrial ventricular junction remodeling
(GO:0003294)
Beta-catenin binding
(GO:0008013)
Beta-tubulin binding
(GO:0048487)
Blood vessel morphogenesis
(GO:0048514)
Bone development
(GO:0060348)
Bone remodeling
(GO:0046849)
Cardiac conduction system development
(GO:0003161)
Cell-cell signaling
(GO:0007267)
Cell communication by chemical coupling
(GO:0010643)
Cell communication by electrical coupling
(GO:0010644)
Cell communication by electrical coupling involved in cardiac conduction
(GO:0086064)
Cellular response to amyloid-beta
(GO:1904646)
Cellular response to ph
(GO:0071467)
Columnar/cuboidal epithelial cell maturation
(GO:0002069)
Cytoplasm
(GO:0005737)
Efflux transmembrane transporter activity
(GO:0015562)
Embryonic digit morphogenesis
(GO:0042733)
Establishment of mitotic spindle orientation
(GO:0000132)
Export across plasma membrane
(GO:0140115)
Gap junction assembly
(GO:0016264)
Gap junction channel activity
(GO:0005243)
Gap junction channel activity involved in cardiac conduction electrical coupling
(GO:0086075)
Gap junction channel activity involved in cell communication by electrical coupling
(GO:1903763)
Gap junction hemi-channel activity
(GO:0055077)
Glutamate secretion
(GO:0014047)
Glutathione transmembrane transport
(GO:0034775)
Glutathione transmembrane transporter activity
(GO:0034634)
Golgi membrane
(GO:0000139)
Heart development
(GO:0007507)
Heart looping
(GO:0001947)
In utero embryonic development
(GO:0001701)
Lens development in camera-type eye
(GO:0002088)
Maintenance of blood-brain barrier
(GO:0035633)
Male gonad development
(GO:0008584)
Milk ejection reflex
(GO:0060156)
Mitochondrion
(GO:0005739)
Monoatomic ion transmembrane transport
(GO:0034220)
Monoatomic ion transmembrane transporter activity
(GO:0015075)
Negative regulation of cell growth
(GO:0030308)
Negative regulation of gene expression
(GO:0010629)
Negative regulation of gonadotropin secretion
(GO:0032277)
Negative regulation of trophoblast cell migration
(GO:1901164)
Neuroblast migration
(GO:0097402)
Neuron migration
(GO:0001764)
Nucleoplasm
(GO:0005654)
Osteoblast differentiation
(GO:0001649)
Positive regulation of canonical nf-kappab signal transduction
(GO:0043123)
Positive regulation of cold-induced thermogenesis
(GO:0120162)
Positive regulation of gene expression
(GO:0010628)
Positive regulation of mesodermal cell differentiation
(GO:1905772)
Positive regulation of morphogenesis of an epithelium
(GO:1905332)
Positive regulation of stem cell proliferation
(GO:2000648)
Positive regulation of striated muscle tissue development
(GO:0045844)
Positive regulation of vascular associated smooth muscle cell proliferation
(GO:1904707)
Protein binding
(GO:0005515)
Protein localization
(GO:0008104)
Protein tyrosine kinase binding
(GO:1990782)
Regulation of atrial cardiac muscle cell membrane depolarization
(GO:0060371)
Regulation of bone mineralization
(GO:0030500)
Regulation of bone remodeling
(GO:0046850)
Regulation of ventricular cardiac muscle cell membrane depolarization
(GO:0060373)
Regulation of ventricular cardiac muscle cell membrane repolarization
(GO:0060307)
Scaffold protein binding
(GO:0097110)
Signaling receptor binding
(GO:0005102)
Signal transduction
(GO:0007165)
Skeletal muscle tissue regeneration
(GO:0043403)
Spermatogenesis
(GO:0007283)
T cell proliferation
(GO:0042098)
Tubulin binding
(GO:0015631)
Xenobiotic transport
(GO:0042908)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: thyroid follicular cell (CL0002258)
Fold Change: 4.5
Marker Score: 3525
Cell Name: mature astrocyte (CL0002627)
Fold Change: 3.62
Marker Score: 2379
Cell Name: enterocyte of colon (CL1000347)
Fold Change: 3.19
Marker Score: 4921
Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: 2.74
Marker Score: 58392
Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 2.3
Marker Score: 40836
Cell Name: preosteoblast (CL0007010)
Fold Change: 2.27
Marker Score: 643
Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 2.25
Marker Score: 25363
Cell Name: type I pneumocyte (CL0002062)
Fold Change: 2.25
Marker Score: 2705
Cell Name: prostate gland microvascular endothelial cell (CL2000059)
Fold Change: 1.92
Marker Score: 744
Cell Name: decidual cell (CL2000002)
Fold Change: 1.88
Marker Score: 8089
Cell Name: astrocyte (CL0000127)
Fold Change: 1.86
Marker Score: 1609
Cell Name: stem cell of epidermis (CL1000428)
Fold Change: 1.84
Marker Score: 623
Cell Name: keratinocyte (CL0000312)
Fold Change: 1.77
Marker Score: 1482
Cell Name: leptomeningeal cell (CL0000708)
Fold Change: 1.75
Marker Score: 863
Cell Name: mesothelial cell of epicardium (CL0011019)
Fold Change: 1.64
Marker Score: 525
Cell Name: fibroblast of breast (CL4006000)
Fold Change: 1.61
Marker Score: 921
Cell Name: colon goblet cell (CL0009039)
Fold Change: 1.58
Marker Score: 1150
Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
Fold Change: 1.58
Marker Score: 1349
Cell Name: endothelial cell of uterus (CL0009095)
Fold Change: 1.53
Marker Score: 3057
Cell Name: vascular lymphangioblast (CL0005022)
Fold Change: 1.53
Marker Score: 2590.5
Cell Name: basal epithelial cell of prostatic duct (CL0002236)
Fold Change: 1.53
Marker Score: 1354
Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 1.51
Marker Score: 441
Cell Name: endothelial cell of vascular tree (CL0002139)
Fold Change: 1.51
Marker Score: 2189
Cell Name: mural cell (CL0008034)
Fold Change: 1.46
Marker Score: 168045
Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 1.45
Marker Score: 3540
Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 1.43
Marker Score: 6001
Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 1.4
Marker Score: 2063
Cell Name: retinal blood vessel endothelial cell (CL0002585)
Fold Change: 1.39
Marker Score: 335
Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
Fold Change: 1.38
Marker Score: 574
Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 1.37
Marker Score: 1370
Cell Name: type EC enteroendocrine cell (CL0000577)
Fold Change: 1.33
Marker Score: 1252
Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: 1.32
Marker Score: 791
Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: 1.28
Marker Score: 43422
Cell Name: epithelial cell of esophagus (CL0002252)
Fold Change: 1.22
Marker Score: 10537
Cell Name: corneal epithelial cell (CL0000575)
Fold Change: 1.2
Marker Score: 1328
Cell Name: smooth muscle cell of prostate (CL1000487)
Fold Change: 1.2
Marker Score: 305
Cell Name: fibroblast of connective tissue of prostate (CL1000299)
Fold Change: 1.19
Marker Score: 297
Cell Name: prostate stromal cell (CL0002622)
Fold Change: 1.18
Marker Score: 297
Cell Name: Leydig cell (CL0000178)
Fold Change: 1.17
Marker Score: 1263
Cell Name: myoepithelial cell of mammary gland (CL0002324)
Fold Change: 1.16
Marker Score: 5717
Cell Name: placental villous trophoblast (CL2000060)
Fold Change: 1.16
Marker Score: 4559
Cell Name: bronchus fibroblast of lung (CL2000093)
Fold Change: 1.16
Marker Score: 1592.5
Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
Fold Change: 1.14
Marker Score: 257
Cell Name: regular ventricular cardiac myocyte (CL0002131)
Fold Change: 1.14
Marker Score: 25499
Cell Name: endothelial cell (CL0000115)
Fold Change: 1.12
Marker Score: 1007
Cell Name: mesenchymal stem cell (CL0000134)
Fold Change: 1.12
Marker Score: 1729
Cell Name: granulosa cell (CL0000501)
Fold Change: 1.12
Marker Score: 11227.5
Cell Name: epithelial cell of alveolus of lung (CL0010003)
Fold Change: 1.1
Marker Score: 492
Cell Name: glandular epithelial cell (CL0000150)
Fold Change: 1.09
Marker Score: 2686.5
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 1.08
Marker Score: 16865
Cell Name: stratified epithelial cell (CL0000079)
Fold Change: 1.07
Marker Score: 8385
Cell Name: keratocyte (CL0002363)
Fold Change: 1.05
Marker Score: 242
Cell Name: epicardial adipocyte (CL1000309)
Fold Change: 1.05
Marker Score: 509
Cell Name: stromal cell (CL0000499)
Fold Change: 1.05
Marker Score: 1227.5
Cell Name: mesothelial cell (CL0000077)
Fold Change: 1.05
Marker Score: 420
Cell Name: endothelial cell of lymphatic vessel (CL0002138)
Fold Change: 1.05
Marker Score: 652
Cell Name: fallopian tube secretory epithelial cell (CL4030006)
Fold Change: 1.04
Marker Score: 251747
Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: 1.02
Marker Score: 347
Cell Name: basal cell (CL0000646)
Fold Change: 1
Marker Score: 1296
Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71766
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 47990
Cell Name: lung microvascular endothelial cell (CL2000016)
Fold Change: 0.98
Marker Score: 209
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30405
Cell Name: Bergmann glial cell (CL0000644)
Fold Change: 0.98
Marker Score: 398
Cell Name: pulmonary artery endothelial cell (CL1001568)
Fold Change: 0.97
Marker Score: 839
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.97
Marker Score: 501
Cell Name: reticular cell (CL0000432)
Fold Change: 0.97
Marker Score: 353
Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.96
Marker Score: 455
Cell Name: vasa recta ascending limb cell (CL1001131)
Fold Change: 0.96
Marker Score: 254
Cell Name: epithelial cell of nephron (CL1000449)
Fold Change: 0.96
Marker Score: 1996
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2408
Cell Name: vein endothelial cell (CL0002543)
Fold Change: 0.93
Marker Score: 839
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.92
Marker Score: 370
Cell Name: cortical thymic epithelial cell (CL0002364)
Fold Change: 0.91
Marker Score: 3383
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.91
Marker Score: 2725
Cell Name: kidney loop of Henle epithelial cell (CL1000909)
Fold Change: 0.91
Marker Score: 568
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.9
Marker Score: 322
Cell Name: theca cell (CL0000503)
Fold Change: 0.89
Marker Score: 641
Cell Name: cardiac muscle cell (CL0000746)
Fold Change: 0.88
Marker Score: 11726
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5267
Cell Name: early T lineage precursor (CL0002425)
Fold Change: 0.87
Marker Score: 663
Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 0.86
Marker Score: 1751
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.86
Marker Score: 4889
Cell Name: endothelial cell of artery (CL1000413)
Fold Change: 0.85
Marker Score: 353
Cell Name: epithelial cell (CL0000066)
Fold Change: 0.84
Marker Score: 1336
Cell Name: epithelial cell of urethra (CL1000296)
Fold Change: 0.84
Marker Score: 658
Cell Name: inflammatory cell (CL0009002)
Fold Change: 0.83
Marker Score: 356
Cell Name: choroid plexus epithelial cell (CL0000706)
Fold Change: 0.82
Marker Score: 753
Cell Name: capillary endothelial cell (CL0002144)
Fold Change: 0.82
Marker Score: 878
Cell Name: pancreatic stellate cell (CL0002410)
Fold Change: 0.81
Marker Score: 514
Cell Name: blood vessel endothelial cell (CL0000071)
Fold Change: 0.8
Marker Score: 807
Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
Fold Change: 0.8
Marker Score: 333
Cell Name: myofibroblast cell (CL0000186)
Fold Change: 0.8
Marker Score: 982
Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: 0.79
Marker Score: 251
Cell Name: peritubular capillary endothelial cell (CL1001033)
Fold Change: 0.79
Marker Score: 184
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.78
Marker Score: 1268
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 0.77
Marker Score: 319
Cell Name: precursor B cell (CL0000817)
Fold Change: 0.77
Marker Score: 508
Cell Name: brush cell (CL0002204)
Fold Change: 0.77
Marker Score: 700
Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.76
Marker Score: 392

Hover over a box to see details here...

**Key characteristics:** * GJA1 is a transmembrane protein that is expressed in a variety of cell types. * It is a key component of gap junctions, which are found in a variety of tissues, including the heart, brain, and kidney. * GJA1 is a glycoprotein that is composed of 140 amino acids. * It is a transmembrane protein that is expressed in a variety of cell types. * It is a key component of gap junctions, which are found in a variety of tissues, including the heart, brain, and kidney. **Pathways and functions:** * GJA1 is involved in the assembly of gap junctions. * It is also involved in the trafficking of gap junctions to their proper destination. * GJA1 is also involved in the regulation of gap junction activity. **Clinical significance:** * Mutations in GJA1 have been linked to a number of diseases, including heart failure, stroke, and cancer. * GJA1 is a potential therapeutic target for these diseases. **Additional information:** * GJA1 is a member of the gap junction protein family. * Gap junctions are essential for the proper function of many tissues. * GJA1 is a highly conserved protein, with a similar protein being found in mammals, birds, and fish.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Gap junction alpha-1 protein

Genular Protein ID: 4245857179

Symbol: CXA1_HUMAN

Name: Gap junction alpha-1 protein

UniProtKB Accession Codes:

P17302 B2R5U9 Q6FHU1 Q9Y5I8

Database IDs:

Citations:

PubMed ID: 1696265

Title: Molecular characterization and functional expression of the human cardiac gap junction channel.

PubMed ID: 1696265

DOI: 10.1083/jcb.111.2.589

PubMed ID: 1646158

Title: The human connexin gene family of gap junction proteins: distinct chromosomal locations but similar structures.

PubMed ID: 1646158

DOI: 10.1016/0888-7543(91)90507-b

PubMed ID: 10581143

Title: Sporadic cases of dilated cardiomyopathies associated with atrioventricular conduction defects are not linked to mutation within the connexins 40 and 43 genes.

PubMed ID: 10581143

DOI: 10.1053/euhj.1999.1718

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9430691

Title: Intercellular calcium signaling via gap junction in connexin-43-transfected cells.

PubMed ID: 9430691

DOI: 10.1074/jbc.273.3.1519

PubMed ID: 15181016

Title: Connexin43 interacts with NOV: a possible mechanism for negative regulation of cell growth in choriocarcinoma cells.

PubMed ID: 15181016

DOI: 10.1074/jbc.m404073200

PubMed ID: 15213231

Title: CCN3 (NOV) interacts with connexin43 in C6 glioma cells: possible mechanism of connexin-mediated growth suppression.

PubMed ID: 15213231

DOI: 10.1074/jbc.m403952200

PubMed ID: 14702389

Title: Phosphorylation of serine 262 in the gap junction protein connexin-43 regulates DNA synthesis in cell-cell contact forming cardiomyocytes.

PubMed ID: 14702389

DOI: 10.1242/jcs.00889

PubMed ID: 10764404

Title: Connexin expression and turnover: implications for cardiac excitability.

PubMed ID: 10764404

DOI: 10.1161/01.res.86.7.723

PubMed ID: 8873667

Title: Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy.

PubMed ID: 8873667

DOI: 10.1161/01.cir.94.8.1909

PubMed ID: 9155619

Title: Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy.

PubMed ID: 9155619

DOI: 10.1136/hrt.77.4.369

PubMed ID: 9443444

Title: Connexin43 gene mutations and heterotaxy.

PubMed ID: 9443444

DOI: 10.1161/01.cir.97.1.117

PubMed ID: 11741837

Title: Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness.

PubMed ID: 11741837

DOI: 10.1093/hmg/10.25.2945

PubMed ID: 12270943

Title: Casein kinase 1 regulates connexin-43 gap junction assembly.

PubMed ID: 12270943

DOI: 10.1074/jbc.m209427200

PubMed ID: 16112082

Title: Molecular cloning and functional analysis of a novel Cx43 partner protein CIP150.

PubMed ID: 16112082

DOI: 10.1016/j.bbrc.2005.08.019

PubMed ID: 15605363

Title: Cellular sublocalization of Cx43 and the establishment of functional coupling in IMR-32 neuroblastoma cells.

PubMed ID: 15605363

DOI: 10.1002/mc.20072

PubMed ID: 16816024

Title: A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome.

PubMed ID: 16816024

DOI: 10.1136/jmg.2005.037655

PubMed ID: 12457340

Title: Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

PubMed ID: 12457340

DOI: 10.1086/346090

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 22411987

Title: The gap junction channel protein connexin 43 is covalently modified and regulated by SUMOylation.

PubMed ID: 22411987

DOI: 10.1074/jbc.m111.281832

PubMed ID: 25168385

Title: Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome.

PubMed ID: 25168385

DOI: 10.1093/hmg/ddu442

PubMed ID: 25398053

Title: Dominant de novo mutations in GJA1 cause erythrokeratodermia variabilis et progressiva, without features of oculodentodigital dysplasia.

PubMed ID: 25398053

DOI: 10.1038/jid.2014.485

PubMed ID: 7715640

Title: Mutations of the connexin43 gap-junction gene in patients with heart malformations and defects of laterality.

PubMed ID: 7715640

DOI: 10.1056/nejm199505183322002

PubMed ID: 11470490

Title: Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE).

PubMed ID: 11470490

DOI: 10.1016/s0027-5107(01)00160-9

PubMed ID: 15108203

Title: Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair.

PubMed ID: 15108203

DOI: 10.1002/ajmg.a.20614

PubMed ID: 14974090

Title: A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype.

PubMed ID: 14974090

DOI: 10.1002/humu.9220

PubMed ID: 14729836

Title: Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly.

PubMed ID: 14729836

DOI: 10.1136/jmg.2003.012005

PubMed ID: 15637728

Title: A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly.

PubMed ID: 15637728

DOI: 10.1002/ajmg.a.30554

PubMed ID: 16222672

Title: Letter to the editor: Novel GJA1 mutation in oculodentodigital dysplasia.

PubMed ID: 16222672

DOI: 10.1002/ajmg.a.30925

PubMed ID: 16219735

Title: A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia.

PubMed ID: 16219735

DOI: 10.1001/archopht.123.10.1422

PubMed ID: 15978203

Title: Mutations of connexin43 in fetuses with congenital heart malformations.

PubMed ID: 15978203

PubMed ID: 15757815

Title: Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia.

PubMed ID: 15757815

PubMed ID: 16378922

Title: Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD).

PubMed ID: 16378922

DOI: 10.1016/j.ejmg.2005.05.003

PubMed ID: 16813608

Title: Clinical and genetic variability of oculodentodigital dysplasia.

PubMed ID: 16813608

DOI: 10.1111/j.1399-0004.2006.00631.x

PubMed ID: 16709485

Title: A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis.

PubMed ID: 16709485

PubMed ID: 17509830

Title: Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene.

PubMed ID: 17509830

DOI: 10.1016/j.ijom.2007.03.004

PubMed ID: 18161618

Title: A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features.

PubMed ID: 18161618

DOI: 10.1080/13816810701538620

PubMed ID: 19338053

Title: GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.

PubMed ID: 19338053

DOI: 10.1002/humu.20958

PubMed ID: 21670345

Title: Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation.

PubMed ID: 21670345

DOI: 10.1001/archophthalmol.2011.113

PubMed ID: 23550541

Title: A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family.

PubMed ID: 23550541

DOI: 10.1111/cge.12158

PubMed ID: 23951358

Title: A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia.

PubMed ID: 23951358

DOI: 10.1371/journal.pone.0073576

PubMed ID: 24508941

Title: Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.

PubMed ID: 24508941

DOI: 10.1016/j.gene.2014.01.066

PubMed ID: 28258662

Title: A novel GJA1 mutation in oculodentodigitaldysplasia with extensive loss of enamel.

PubMed ID: 28258662

DOI: 10.1111/odi.12663

Sequence Information:

Length: 382
Mass: 43008
Checksum: 7DDDAD8040284176
Sequence:

MGDWSALGKL LDKVQAYSTA GGKVWLSVLF IFRILLLGTA VESAWGDEQS AFRCNTQQPG 
CENVCYDKSF PISHVRFWVL QIIFVSVPTL LYLAHVFYVM RKEEKLNKKE EELKVAQTDG 
VNVDMHLKQI EIKKFKYGIE EHGKVKMRGG LLRTYIISIL FKSIFEVAFL LIQWYIYGFS 
LSAVYTCKRD PCPHQVDCFL SRPTEKTIFI IFMLVVSLVS LALNIIELFY VFFKGVKDRV 
KGKSDPYHAT SGALSPAKDC GSQKYAYFNG CSSPTAPLSP MSPPGYKLVT GDRNNSSCRN 
YNKQASEQNW ANYSAEQNRM GQAGSTISNS HAQPFDFPDD NQNSKKLAAG HELQPLAIVD 
QRPSSRASSR ASSRPRPDDL EI

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.

Details for: GJA1

Associated with

Cells (max top 100)

Other Information

Molecular characterization and functional expression of the human cardiac gap junction channel. PubMed ID: 1696265

The human connexin gene family of gap junction proteins: distinct chromosomal locations but similar structures. PubMed ID: 1646158

Sporadic cases of dilated cardiomyopathies associated with atrioventricular conduction defects are not linked to mutation within the connexins 40 and 43 genes. PubMed ID: 10581143

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The DNA sequence and analysis of human chromosome 6. PubMed ID: 14574404

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Intercellular calcium signaling via gap junction in connexin-43-transfected cells. PubMed ID: 9430691

Connexin43 interacts with NOV: a possible mechanism for negative regulation of cell growth in choriocarcinoma cells. PubMed ID: 15181016

CCN3 (NOV) interacts with connexin43 in C6 glioma cells: possible mechanism of connexin-mediated growth suppression. PubMed ID: 15213231

Phosphorylation of serine 262 in the gap junction protein connexin-43 regulates DNA synthesis in cell-cell contact forming cardiomyocytes. PubMed ID: 14702389

Connexin expression and turnover: implications for cardiac excitability. PubMed ID: 10764404

Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy. PubMed ID: 8873667

Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy. PubMed ID: 9155619

Connexin43 gene mutations and heterotaxy. PubMed ID: 9443444

Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness. PubMed ID: 11741837

Casein kinase 1 regulates connexin-43 gap junction assembly. PubMed ID: 12270943

Molecular cloning and functional analysis of a novel Cx43 partner protein CIP150. PubMed ID: 16112082

Cellular sublocalization of Cx43 and the establishment of functional coupling in IMR-32 neuroblastoma cells. PubMed ID: 15605363

A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome. PubMed ID: 16816024

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. PubMed ID: 12457340

System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. PubMed ID: 21406692

The gap junction channel protein connexin 43 is covalently modified and regulated by SUMOylation. PubMed ID: 22411987

Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. PubMed ID: 25168385

Dominant de novo mutations in GJA1 cause erythrokeratodermia variabilis et progressiva, without features of oculodentodigital dysplasia. PubMed ID: 25398053

Mutations of the connexin43 gap-junction gene in patients with heart malformations and defects of laterality. PubMed ID: 7715640

Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). PubMed ID: 11470490

Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair. PubMed ID: 15108203

A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype. PubMed ID: 14974090

Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly. PubMed ID: 14729836

A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly. PubMed ID: 15637728

Letter to the editor: Novel GJA1 mutation in oculodentodigital dysplasia. PubMed ID: 16222672

A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia. PubMed ID: 16219735

Mutations of connexin43 in fetuses with congenital heart malformations. PubMed ID: 15978203

Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia. PubMed ID: 15757815

Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD). PubMed ID: 16378922

Clinical and genetic variability of oculodentodigital dysplasia. PubMed ID: 16813608

A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis. PubMed ID: 16709485

Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene. PubMed ID: 17509830

A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features. PubMed ID: 18161618

GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. PubMed ID: 19338053

Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation. PubMed ID: 21670345

A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family. PubMed ID: 23550541

A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. PubMed ID: 23951358

Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum. PubMed ID: 24508941

A novel GJA1 mutation in oculodentodigitaldysplasia with extensive loss of enamel. PubMed ID: 28258662