GJA1 | ENSG00000152661 | NCBI 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)
Alpha-tubulin binding
(GO:0043014)
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)
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)
Microtubule-based transport
(GO:0099111)
Milk ejection reflex
(GO:0060156)
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)
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)
Transmembrane transport
(GO:0055085)
Tubulin binding
(GO:0015631)
Xenobiotic transport
(GO:0042908)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: embryonic stem cell (CL0002322)
Fold Change: 105.1590
Cell Significance Index: -43.3200
Cell Name: smooth muscle fiber of ileum (CL1000278)
Fold Change: 79.8415
Cell Significance Index: -37.7000
Cell Name: mucosal type mast cell (CL0000485)
Fold Change: 79.1125
Cell Significance Index: -32.1400
Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 9.9973
Cell Significance Index: -39.4500
Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: 9.7758
Cell Significance Index: 313.1100
Cell Name: epidermal Langerhans cell (CL0002457)
Fold Change: 7.7196
Cell Significance Index: -16.9000
Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 4.7665
Cell Significance Index: 127.7200
Cell Name: vascular lymphangioblast (CL0005022)
Fold Change: 4.0300
Cell Significance Index: 71.2200
Cell Name: granulosa cell (CL0000501)
Fold Change: 3.5845
Cell Significance Index: 94.2600
Cell Name: prostate gland microvascular endothelial cell (CL2000059)
Fold Change: 3.5325
Cell Significance Index: 25.3700
Cell Name: odontoblast (CL0000060)
Fold Change: 3.3148
Cell Significance Index: 424.9400
Cell Name: hippocampal astrocyte (CL0002604)
Fold Change: 3.1752
Cell Significance Index: 44.4000
Cell Name: granular cell of epidermis (CL0002189)
Fold Change: 3.0490
Cell Significance Index: 3.5100
Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: 1.4526
Cell Significance Index: 642.2500
Cell Name: epidermal cell (CL0000362)
Fold Change: 1.2996
Cell Significance Index: 2.9300
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 1.2661
Cell Significance Index: 36.4800
Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: 1.2480
Cell Significance Index: 145.4400
Cell Name: leptomeningeal cell (CL0000708)
Fold Change: 1.0702
Cell Significance Index: 22.8800
Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 1.0537
Cell Significance Index: 28.6800
Cell Name: endothelial cell of venule (CL1000414)
Fold Change: 0.8979
Cell Significance Index: 10.2000
Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 0.8561
Cell Significance Index: 117.5600
Cell Name: sebum secreting cell (CL0000317)
Fold Change: 0.6571
Cell Significance Index: 46.4700
Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: 0.6356
Cell Significance Index: 18.2200
Cell Name: mature astrocyte (CL0002627)
Fold Change: 0.6128
Cell Significance Index: 6.8100
Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 0.5136
Cell Significance Index: 26.6800
Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.4173
Cell Significance Index: 79.4200
Cell Name: fibroblast of dermis (CL0002551)
Fold Change: 0.3781
Cell Significance Index: 7.9200
Cell Name: endothelial cell of placenta (CL0009092)
Fold Change: 0.3327
Cell Significance Index: 2.0100
Cell Name: basal cell of epidermis (CL0002187)
Fold Change: 0.3226
Cell Significance Index: 4.9000
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.2666
Cell Significance Index: 20.4600
Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 0.2587
Cell Significance Index: 31.8100
Cell Name: fallopian tube secretory epithelial cell (CL4030006)
Fold Change: 0.1939
Cell Significance Index: 3.0000
Cell Name: corneal epithelial cell (CL0000575)
Fold Change: 0.1823
Cell Significance Index: 2.6000
Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.1819
Cell Significance Index: 32.8000
Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 0.1772
Cell Significance Index: 112.5300
Cell Name: lung endothelial cell (CL1001567)
Fold Change: 0.1520
Cell Significance Index: 7.9200
Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.1480
Cell Significance Index: 278.7500
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.1278
Cell Significance Index: 20.7900
Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.0977
Cell Significance Index: 9.6700
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.0927
Cell Significance Index: 83.6600
Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: 0.0449
Cell Significance Index: 1.5600
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.0308
Cell Significance Index: 3.3500
Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.0034
Cell Significance Index: -0.0900
Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0051
Cell Significance Index: -0.7400
Cell Name: anterior lens cell (CL0002223)
Fold Change: -0.0145
Cell Significance Index: -26.6800
Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0235
Cell Significance Index: -17.7900
Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0238
Cell Significance Index: -17.6400
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: -0.0299
Cell Significance Index: -1.0500
Cell Name: lens epithelial cell (CL0002224)
Fold Change: -0.0348
Cell Significance Index: -53.5300
Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0376
Cell Significance Index: -23.4500
Cell Name: cell in vitro (CL0001034)
Fold Change: -0.0378
Cell Significance Index: -20.6700
Cell Name: secondary lens fiber (CL0002225)
Fold Change: -0.0451
Cell Significance Index: -61.3800
Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0490
Cell Significance Index: -35.9000
Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: -0.0566
Cell Significance Index: -20.3000
Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: -0.0568
Cell Significance Index: -1.4200
Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0594
Cell Significance Index: -33.4900
Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0680
Cell Significance Index: -30.8800
Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: -0.0977
Cell Significance Index: -1.6900
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0986
Cell Significance Index: -28.3700
Cell Name: neoplastic cell (CL0001063)
Fold Change: -0.1084
Cell Significance Index: -21.5100
Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.1173
Cell Significance Index: -7.1900
Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: -0.1219
Cell Significance Index: -2.6400
Cell Name: gut absorptive cell (CL0000677)
Fold Change: -0.1271
Cell Significance Index: -7.6300
Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.1561
Cell Significance Index: -32.8700
Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.1585
Cell Significance Index: -27.0600
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: -0.1653
Cell Significance Index: -33.1500
Cell Name: cardiac muscle cell (CL0000746)
Fold Change: -0.1795
Cell Significance Index: -2.6500
Cell Name: lactocyte (CL0002325)
Fold Change: -0.1873
Cell Significance Index: -24.2000
Cell Name: basal epithelial cell of prostatic duct (CL0002236)
Fold Change: -0.1926
Cell Significance Index: -1.7100
Cell Name: embryonic fibroblast (CL2000042)
Fold Change: -0.2299
Cell Significance Index: -1.1000
Cell Name: preosteoblast (CL0007010)
Fold Change: -0.2463
Cell Significance Index: -2.2400
Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: -0.2480
Cell Significance Index: -6.9300
Cell Name: mesenchymal cell (CL0008019)
Fold Change: -0.2557
Cell Significance Index: -4.2800
Cell Name: pancreatic endocrine cell (CL0008024)
Fold Change: -0.2746
Cell Significance Index: -31.3500
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.2767
Cell Significance Index: -31.7100
Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: -0.2846
Cell Significance Index: -12.9000
Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: -0.3064
Cell Significance Index: -4.1800
Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: -0.3132
Cell Significance Index: -21.6600
Cell Name: abnormal cell (CL0001061)
Fold Change: -0.3144
Cell Significance Index: -32.1200
Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.3171
Cell Significance Index: -33.0200
Cell Name: forebrain neuroblast (CL1000042)
Fold Change: -0.3207
Cell Significance Index: -19.7100
Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: -0.3258
Cell Significance Index: -38.4200
Cell Name: neuron associated cell (CL0000095)
Fold Change: -0.3780
Cell Significance Index: -15.4900
Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.3926
Cell Significance Index: -29.2600
Cell Name: fibro/adipogenic progenitor cell (CL0009099)
Fold Change: -0.3983
Cell Significance Index: -20.1300
Cell Name: preadipocyte (CL0002334)
Fold Change: -0.4068
Cell Significance Index: -7.9400
Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: -0.4457
Cell Significance Index: -6.4100
Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.4566
Cell Significance Index: -36.1600
Cell Name: retinal progenitor cell (CL0002672)
Fold Change: -0.4739
Cell Significance Index: -26.5900
Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.5265
Cell Significance Index: -24.7500
Cell Name: hippocampal granule cell (CL0001033)
Fold Change: -0.5482
Cell Significance Index: -36.8600
Cell Name: early pro-B cell (CL0002046)
Fold Change: -0.5850
Cell Significance Index: -37.7400
Cell Name: astrocyte (CL0000127)
Fold Change: -0.6073
Cell Significance Index: -6.9500
Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: -0.6263
Cell Significance Index: -39.4800
Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: -0.7400
Cell Significance Index: -15.7600
Cell Name: epithelial cell of nephron (CL1000449)
Fold Change: -0.7589
Cell Significance Index: -6.4500
Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.8902
Cell Significance Index: -46.7400
Cell Name: stratified epithelial cell (CL0000079)
Fold Change: -0.9221
Cell Significance Index: -33.8500
Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: -0.9734
Cell Significance Index: -43.0600
Cell Name: keratinocyte (CL0000312)
Fold Change: -1.0194
Cell Significance Index: -25.4600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

**Key Characteristics:** GJA1 is a transmembrane protein that forms gap junction channels, allowing for the direct exchange of ions, metabolites, and signaling molecules between adjacent cells. It is a member of the connexin family, which is composed of six subunits (α, β, γ, δ, ε, and ζ). GJA1 is specifically expressed in a wide range of tissues, including the heart, brain, and reproductive organs. Its expression is tightly regulated during development and is involved in various cellular processes, including cell proliferation, differentiation, and survival. **Pathways and Functions:** GJA1 plays a critical role in several cellular pathways, including: 1. **Cardiac Conduction:** GJA1 is essential for the development and function of the cardiac conduction system, allowing for the coordinated contraction of the heart. 2. **Cell-Cell Signaling:** Gap junctions formed by GJA1 facilitate the exchange of signaling molecules, enabling cells to communicate and coordinate their behavior. 3. **Developmental Processes:** GJA1 is involved in various developmental processes, including embryonic development, tissue morphogenesis, and organogenesis. 4. **Neurological Function:** GJA1 is expressed in the brain and is involved in neuronal communication, synaptic plasticity, and neurodevelopment. **Functions:** GJA1 has several functions, including: 1. **Ion Channel Activity:** GJA1 forms gap junction channels, allowing for the exchange of ions and metabolites between cells. 2. **Signaling Molecule Transport:** GJA1 facilitates the transport of signaling molecules, enabling cells to communicate and coordinate their behavior. 3. **Cell Proliferation and Differentiation:** GJA1 is involved in the regulation of cell proliferation and differentiation, particularly during development and tissue repair. 4. **Tissue Function:** GJA1 is essential for the proper functioning of various tissues, including the heart, brain, and reproductive organs. **Clinical Significance:** Dysregulation of GJA1 has been implicated in various diseases, including: 1. **Cardiac Arrhythmias:** Abnormal gap junction function and GJA1 expression have been linked to cardiac arrhythmias, such as atrial fibrillation. 2. **Neurological Disorders:** GJA1 dysregulation has been implicated in neurological disorders, including Alzheimer's disease, Parkinson's disease, and multiple sclerosis. 3. **Reproductive Disorders:** GJA1 expression is altered in reproductive disorders, such as infertility and miscarriage. 4. **Infectious Diseases:** GJA1 has been shown to be involved in the pathogenesis of infectious diseases, including SARS-CoV-2. In conclusion, GJA1 is a critical component of gap junctions, essential for cell-to-cell communication and tissue function. Its dysregulation has been implicated in various diseases, highlighting the importance of GJA1 in maintaining tissue homeostasis and preventing disease. As an expert immunologist, I emphasize the need for further research on GJA1 to fully understand its role in human health and disease.

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. 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