MultifacetedProtDB - Bologna Biocomputing Group

Structure

PDB	Resolution (Å)	PDB name
2LL2		Structure of the Cx43 C-terminal domain bound to tubulin
7F92	3.1	Structure of connexin43/Cx43/GJA1 gap junction intercellular channel in LMNG/CHS detergents at pH ~8.0
7F93	3.6	Structure of connexin43/Cx43/GJA1 gap junction intercellular channel in nanodiscs with soybean lipids at pH ~8.0
7F94	3.6	Structure of C-terminal truncated connexin43/Cx43/GJA1 gap junction intercellular channel with two conformationally different hemichannels
7XQ9	3.3	Structure of connexin43/Cx43/GJA1 gap junction intercellular channel in GDN detergents at pH ~8.0
7XQB	3.0	Structure of connexin43/Cx43/GJA1 gap junction intercellular channel in POPE/CHS nanodiscs at pH ~8.0
7XQD	2.7	Structure of C-terminal truncated connexin43/Cx43/GJA1 gap junction intercellular channel in POPE/CHS nanodiscs (C1 symmetry)
7XQF	2.3	Structure of C-terminal truncated connexin43/Cx43/GJA1 gap junction intercellular channel in POPE/CHS nanodiscs
7XQG	3.8	Hemichannel-focused structure of C-terminal truncated connexin43/Cx43/GJA1 gap junction intercellular channel in POPE nanodiscs (GCN conformation)
7XQH	3.8	Hemichannel-focused structure of C-terminal truncated connexin43/Cx43/GJA1 gap junction intercellular channel in POPE nanodiscs (GCN-TM1i conformation)
7XQI	3.7	Hemichannel-focused structure of C-terminal truncated connexin43/Cx43/GJA1 gap junction intercellular channel in POPE nanodiscs (FIN conformation)
7XQJ	4.0	Hemichannel-focused structure of C-terminal truncated connexin43/Cx43/GJA1 gap junction intercellular channel in POPE nanodiscs (PLN conformation)
7Z1T	2.26	Connexin43 gap junction channel structure in digitonin
7Z22	2.95	Connexin43 gap junction channel structure in nanodisc
7Z23	3.98	Connexin43 hemi channel in nanodisc

GO term

GO ontology	GO term	GO description
Biological Process	GO:0086014	atrial cardiac muscle cell action potential
Biological Process	GO:0060348	bone development
Biological Process	GO:0046849	bone remodeling
Biological Process	GO:0003161	cardiac conduction system development
Biological Process	GO:0010644	cell communication by electrical coupling
Biological Process	GO:0086064	cell communication by electrical coupling involved in cardiac conduction
Biological Process	GO:0007267	cell-cell signaling
Biological Process	GO:1904646	cellular response to amyloid-beta
Biological Process	GO:0000132	establishment of mitotic spindle orientation
Biological Process	GO:0140115	export across plasma membrane
Biological Process	GO:0016264	gap junction assembly
Biological Process	GO:0014047	glutamate secretion
Biological Process	GO:0007507	heart development
Biological Process	GO:0035633	maintenance of blood-brain barrier
Biological Process	GO:0099111	microtubule-based transport
Biological Process	GO:0034220	monoatomic ion transmembrane transport
Biological Process	GO:0030308	negative regulation of cell growth
Biological Process	GO:0032277	negative regulation of gonadotropin secretion
Biological Process	GO:1901164	negative regulation of trophoblast cell migration
Biological Process	GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling
Biological Process	GO:0120162	positive regulation of cold-induced thermogenesis
Biological Process	GO:0010628	positive regulation of gene expression
Biological Process	GO:1905772	positive regulation of mesodermal cell differentiation
Biological Process	GO:1905332	positive regulation of morphogenesis of an epithelium
Biological Process	GO:2000648	positive regulation of stem cell proliferation
Biological Process	GO:1904707	positive regulation of vascular associated smooth muscle cell proliferation
Biological Process	GO:0008104	protein localization
Biological Process	GO:0007165	signal transduction
Biological Process	GO:0007283	spermatogenesis
Biological Process	GO:0042908	xenobiotic transport
Molecular Function	GO:0043014	alpha-tubulin binding
Molecular Function	GO:0008013	beta-catenin binding
Molecular Function	GO:0015562	efflux transmembrane transporter activity
Molecular Function	GO:0005243	gap junction channel activity
Molecular Function	GO:0086075	gap junction channel activity involved in cardiac conduction electrical coupling
Molecular Function	GO:1903763	gap junction channel activity involved in cell communication by electrical coupling
Molecular Function	GO:0055077	gap junction hemi-channel activity
Molecular Function	GO:0034634	glutathione transmembrane transporter activity
Molecular Function	GO:0015075	monoatomic ion transmembrane transporter activity
Molecular Function	GO:0015631	tubulin binding
Cellular Component	GO:0005794	Golgi apparatus
Cellular Component	GO:0000139	Golgi membrane
Cellular Component	GO:0030660	Golgi-associated vesicle membrane
Cellular Component	GO:0016324	apical plasma membrane
Cellular Component	GO:0030054	cell junction
Cellular Component	GO:0044291	cell-cell contact zone
Cellular Component	GO:0005922	connexin complex
Cellular Component	GO:0005737	cytoplasm
Cellular Component	GO:0005789	endoplasmic reticulum membrane
Cellular Component	GO:0005925	focal adhesion
Cellular Component	GO:0005921	gap junction
Cellular Component	GO:0014704	intercalated disc
Cellular Component	GO:0043231	intracellular membrane-bounded organelle
Cellular Component	GO:0045121	membrane raft
Cellular Component	GO:0005739	mitochondrion
Cellular Component	GO:0005654	nucleoplasm
Cellular Component	GO:0005634	nucleus
Cellular Component	GO:0005886	plasma membrane
Cellular Component	GO:0070160	tight junction

InterPro / Pfam

InterPro	InterPro name
IPR000500	Connexin
IPR002261	Gap junction alpha-1 protein (Cx43)
IPR013092	Connexin, N-terminal
IPR013124	Gap junction alpha-1 protein (Cx43), C-terminal
IPR017990	Connexin, conserved site
IPR019570	Gap junction protein, cysteine-rich domain
IPR034634	Connexin, C-terminal
IPR035091	Gap junction alpha-1 protein (Cx43), alpha helix domain superfamily
IPR038359	Connexin, N-terminal domain superfamily

Pfam	Pfam name
PF00029	Connexin
PF03508	Gap junction alpha-1 protein (Cx43)

Reactome

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-190704	Oligomerization of connexins into connexons	Leaf	R-HSA-5653656	Vesicle-mediated transport
R-HSA-190827	Transport of connexins along the secretory pathway	Leaf	R-HSA-5653656	Vesicle-mediated transport
R-HSA-190840	Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane	Leaf	R-HSA-5653656	Vesicle-mediated transport
R-HSA-190861	Gap junction assembly	Internal node	R-HSA-5653656	Vesicle-mediated transport
R-HSA-190873	Gap junction degradation	Internal node	R-HSA-5653656	Vesicle-mediated transport
R-HSA-191650	Regulation of gap junction activity	Leaf	R-HSA-5653656	Vesicle-mediated transport
R-HSA-196025	Formation of annular gap junctions	Leaf	R-HSA-5653656	Vesicle-mediated transport
R-HSA-9013406	RHOQ GTPase cycle	Leaf	R-HSA-162582	Signal Transduction
R-HSA-9013409	RHOJ GTPase cycle	Leaf	R-HSA-162582	Signal Transduction
R-HSA-9705677	SARS-CoV-2 targets PDZ proteins in cell-cell junction	Leaf	R-HSA-1643685	Disease

Subcellular location

Location	ECO term	Pubmed
Cell junction, gap junction	ECO:0000269	PubMed:22411987
Cell junction, gap junction	ECO:0000269	PubMed:25398053
Cell membrane	ECO:0000269	PubMed:22411987
Cell membrane	ECO:0000269	PubMed:25398053
Endoplasmic reticulum	ECO:0000250

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0002217	Slow-growing hair
HP:0001041	Facial erythema
HP:0002299	Brittle hair
HP:0002230	Generalized hirsutism
HP:0000678	Dental crowding
HP:0001250	Seizure
HP:0000160	Narrow mouth
HP:0030680	Abnormality of cardiovascular system morphology
HP:0000303	Mandibular prognathia
HP:0001231	Abnormal fingernail morphology
HP:0001595	Abnormal hair morphology
HP:0000501	Glaucoma
HP:0000035	Abnormal testis morphology
HP:0001808	Fragile nails
HP:0002135	Basal ganglia calcification
HP:0000365	Hearing impairment
HP:0006384	Club-shaped distal femur
HP:0007400	Irregular hyperpigmentation
HP:0009779	3-4 toe syndactyly
HP:0001249	Intellectual disability
HP:0001631	Atrial septal defect
HP:0000953	Hyperpigmentation of the skin
HP:0005768	2-4 toe cutaneous syndactyly
HP:0001629	Ventricular septal defect
HP:0001324	Muscle weakness
HP:0001597	Abnormality of the nail
HP:0001156	Brachydactyly
HP:0000525	Abnormality iris morphology
HP:0000679	Taurodontia
HP:0009237	Short 5th finger
HP:0000280	Coarse facial features
HP:0002500	Abnormal cerebral white matter morphology
HP:0002223	Absent eyebrow
HP:0000992	Cutaneous photosensitivity
HP:0003067	Madelung deformity
HP:0000581	Blepharophimosis
HP:0000494	Downslanted palpebral fissures
HP:0000691	Microdontia
HP:0000161	Median cleft lip
HP:0000187	Broad alveolar ridges
HP:0002916	Abnormality of chromosome segregation
HP:0000689	Dental malocclusion
HP:0000407	Sensorineural hearing impairment
HP:0025114	Hypergranulosis
HP:0000988	Skin rash
HP:0010491	Digital constriction ring
HP:0002827	Hip dislocation
HP:0000582	Upslanted palpebral fissure
HP:0001943	Hypoglycemia
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand
HP:0003015	Flared metaphysis
HP:0001251	Ataxia
HP:0000460	Narrow nose
HP:0011939	3-4 finger cutaneous syndactyly
HP:0008070	Sparse hair
HP:0031057	Skin fissure
HP:0008069	Neoplasm of the skin
HP:0000248	Brachycephaly
HP:0000343	Long philtrum
HP:0010783	Erythema
HP:0005588	Patchy palmoplantar hyperkeratosis
HP:0001260	Dysarthria
HP:0004437	Cranial hyperostosis
HP:0011675	Arrhythmia
HP:0003103	Abnormal cortical bone morphology
HP:0001291	Abnormal cranial nerve morphology
HP:0006801	Hyperactive deep tendon reflexes
HP:0002514	Cerebral calcification
HP:0008499	High hypermetropia
HP:0002209	Sparse scalp hair
HP:0000286	Epicanthus
HP:0012733	Macule
HP:0000411	Protruding ear
HP:0006323	Premature loss of primary teeth
HP:0025493	Palmoplantar erythema
HP:0002194	Delayed gross motor development
HP:0001537	Umbilical hernia
HP:0000653	Sparse eyelashes
HP:0002750	Delayed skeletal maturation
HP:0002213	Fine hair
HP:0000958	Dry skin
HP:0009804	Tooth agenesis
HP:0000982	Palmoplantar keratoderma
HP:0001596	Alopecia
HP:0005769	Fifth finger distal phalanx clinodactyly
HP:0001177	Preaxial hand polydactyly
HP:0045075	Sparse eyebrow
HP:0006334	Hypoplasia of the primary teeth
HP:0002967	Cubitus valgus
HP:0040189	Scaling skin
HP:0001159	Syndactyly
HP:0006101	Finger syndactyly
HP:0000598	Abnormality of the ear
HP:0010109	Short hallux
HP:0100018	Nuclear cataract
HP:0005622	Broad long bones
HP:0001347	Hyperreflexia
HP:0010628	Facial palsy
HP:0200055	Small hand
HP:0009772	Patchy sclerosis of finger phalanx
HP:0000518	Cataract
HP:0008404	Nail dystrophy
HP:0001508	Failure to thrive
HP:0000670	Carious teeth
HP:0001263	Global developmental delay
HP:0040162	Orthokeratosis
HP:0011359	Dry hair
HP:0010761	Broad columella
HP:0009886	Trichorrhexis nodosa
HP:0000601	Hypotelorism
HP:0000750	Delayed speech and language development
HP:0000256	Macrocephaly
HP:0011002	Osteopetrosis
HP:0000486	Strabismus
HP:0012304	Hypoplastic aortic arch
HP:0000204	Cleft upper lip
HP:0001034	Hypermelanotic macule
HP:0009765	Low hanging columella
HP:0007543	Epidermal hyperkeratosis
HP:0000347	Micrognathia
HP:0002298	Absent hair
HP:0000889	Abnormal clavicle morphology
HP:0000430	Underdeveloped nasal alae
HP:0000377	Abnormal pinna morphology
HP:0100490	Camptodactyly of finger
HP:0025092	Epidermal acanthosis
HP:0002212	Curly hair
HP:0010705	4-5 finger syndactyly
HP:0005280	Depressed nasal bridge
HP:0000369	Low-set ears
HP:0008572	External ear malformation
HP:0011838	Sclerodactyly
HP:0000819	Diabetes mellitus
HP:0007556	Plantar hyperkeratosis
HP:0005465	Facial hyperostosis
HP:0001161	Hand polydactyly
HP:0000505	Visual impairment
HP:0000944	Abnormal metaphysis morphology
HP:0006297	Enamel hypoplasia
HP:0002435	Meningocele
HP:0000675	Macrodontia of permanent maxillary central incisor
HP:0000252	Microcephaly
HP:0003189	Long nose
HP:0001773	Short foot
HP:0000962	Hyperkeratosis
HP:0001257	Spasticity
HP:0002007	Frontal bossing
HP:0000685	Hypoplasia of teeth
HP:0100335	Non-midline cleft lip
HP:0009800	Maternal diabetes
HP:0000684	Delayed eruption of teeth
HP:0000490	Deeply set eye
HP:0001824	Weight loss
HP:0001643	Patent ductus arteriosus
HP:0000478	Abnormality of the eye
HP:0009748	Large earlobe
HP:0009183	Joint contracture of the 5th finger
HP:0008442	Vertebral hyperostosis
HP:0000554	Uveitis
HP:0001739	Abnormal nasopharynx morphology
HP:0002164	Nail dysplasia
HP:0002313	Spastic paraparesis
HP:0002385	Paraparesis
HP:0000007	Autosomal recessive inheritance
HP:0011342	Mild global developmental delay
HP:0004407	Bony paranasal bossing
HP:0000506	Telecanthus
HP:0000696	Delayed eruption of permanent teeth
HP:0000940	Abnormal diaphysis morphology
HP:0000006	Autosomal dominant inheritance
HP:0009917	Persistent pupillary membrane
HP:0003577	Congenital onset
HP:0007957	Corneal opacity
HP:0004220	Short middle phalanx of the 5th finger
HP:0000316	Hypertelorism
HP:0000405	Conductive hearing impairment
HP:0004322	Short stature
HP:0001592	Selective tooth agenesis
HP:0100774	Hyperostosis
HP:0001182	Tapered finger
HP:0000504	Abnormality of vision
HP:0007360	Aplasia/Hypoplasia of the cerebellum
HP:0004209	Clinodactyly of the 5th finger
HP:0009900	Unilateral deafness
HP:0001718	Mitral stenosis
HP:0032152	Keratosis pilaris
HP:0004493	Craniofacial hyperostosis
HP:0002273	Tetraparesis
HP:0000410	Mixed hearing impairment
HP:0001807	Ridged nail
HP:0000545	Myopia
HP:0004528	Generalized hypotrichosis
HP:0001288	Gait disturbance
HP:0000765	Abnormal thorax morphology
HP:0001742	Nasal congestion
HP:0001770	Toe syndactyly
HP:0000482	Microcornea
HP:0000648	Optic atrophy
HP:0000175	Cleft palate
HP:0011560	Mitral atresia
HP:0004383	Hypoplastic left heart
HP:0003196	Short nose
HP:0001831	Short toe
HP:0000366	Abnormality of the nose
HP:0000239	Large fontanelles
HP:0010537	Wide cranial sutures
HP:0000568	Microphthalmia
HP:0008066	Abnormal blistering of the skin
HP:0000446	Narrow nasal bridge
HP:0000327	Hypoplasia of the maxilla
HP:0003593	Infantile onset
HP:0000463	Anteverted nares
HP:0000348	High forehead
HP:0009162	Absent middle phalanx of 5th finger
HP:0000639	Nystagmus
HP:0000431	Wide nasal bridge
HP:0001820	Leukonychia
HP:0003312	Abnormal form of the vertebral bodies
HP:0030084	Clinodactyly
HP:0000011	Neurogenic bladder
HP:0012785	Flexion contracture of finger
HP:0000218	High palate
HP:0012745	Short palpebral fissure
HP:0006480	Premature loss of teeth
HP:0000233	Thin vermilion border
HP:0000682	Abnormal dental enamel morphology
HP:0001058	Poor wound healing
HP:0100255	Metaphyseal dysplasia
HP:0000613	Photophobia
HP:0002652	Skeletal dysplasia

Tissue and cell type

Tissue	Cell type	Expression level	Reliability
adrenal gland	glandular cells	High	Enhanced
bone marrow	hematopoietic cells	Low	Enhanced
breast	glandular cells	Low	Enhanced
breast	myoepithelial cells	Medium	Enhanced
caudate	glial cells	Medium	Enhanced
caudate	neuronal cells	Medium	Enhanced
cerebellum	granular cells - cytoplasm/membrane	Medium	Enhanced
cerebellum	processes in granular layer	High	Enhanced
cerebellum	processes in molecular layer	High	Enhanced
cerebellum	processes in white matter	Low	Enhanced
cerebral cortex	endothelial cells	Low	Enhanced
cerebral cortex	glial cells	Low	Enhanced
cerebral cortex	neuronal cells	Medium	Enhanced
cerebral cortex	neuropil	High	Enhanced
cervix	squamous epithelial cells	High	Enhanced
colon	endothelial cells	Low	Enhanced
colon	glandular cells	Low	Enhanced
colon	peripheral nerve/ganglion	Medium	Enhanced
duodenum	glandular cells	Low	Enhanced
endometrium	ciliated epithelial cells	High	Enhanced
endometrium	endothelial cells	High	Enhanced
endometrium	nonciliated glandular epithelial cells	High	Enhanced
endometrium	nonciliated luminal epithelial cells	High	Enhanced
endometrium	stromal fibroblasts	High	Enhanced
endometrium 1	cells in endometrial stroma	High	Enhanced
endometrium 1	glandular cells	Low	Enhanced
endometrium 2	cells in endometrial stroma	High	Enhanced
endometrium 2	glandular cells	Low	Enhanced
epididymis	glandular cells	Medium	Enhanced
esophagus	squamous epithelial cells	Medium	Enhanced
fallopian tube	glandular cells	Low	Enhanced
gallbladder	glandular cells	Medium	Enhanced
heart muscle	cardiomyocytes	High	Enhanced
hippocampus	glial cells	Medium	Enhanced
hippocampus	neuronal cells	Medium	Enhanced
kidney	cells in glomeruli	Medium	Enhanced
kidney	cells in tubules	Medium	Enhanced
lung	alveolar cells	Low	Enhanced
lung	macrophages	Low	Enhanced
lymph node	germinal center cells	Medium	Enhanced
oral mucosa	squamous epithelial cells	Medium	Enhanced
parathyroid gland	glandular cells	High	Enhanced
placenta	cytotrophoblasts	High	Enhanced
placenta	endothelial cells	High	Enhanced
placenta	hofbauer cells	High	Enhanced
prostate	glandular cells	High	Enhanced
seminal vesicle	glandular cells	Low	Enhanced
skin 1	cells in basal layer	Medium	Enhanced
skin 1	cells in spinous layer	High	Enhanced
skin 1	fibrohistiocytic cells	Low	Enhanced
skin 1	langerhans cells	High	Enhanced
skin 1	melanocytes	Medium	Enhanced
skin 2	cells in basal layer	Medium	Enhanced
skin 2	cells in spinous layer	High	Enhanced
skin 2	endothelial cells	Low	Enhanced
skin 2	fibrohistiocytic cells	High	Enhanced
skin 2	hair follicles	Medium	Enhanced
skin 2	langerhans cells	High	Enhanced
skin 2	melanocytes	Medium	Enhanced
small intestine	glandular cells	Low	Enhanced
soft tissue 1	fibroblasts	Low	Enhanced
soft tissue 1	peripheral nerve	Low	Enhanced
soft tissue 2	fibroblasts	Medium	Enhanced
soft tissue 2	peripheral nerve	Low	Enhanced
spleen	cells in red pulp	Low	Enhanced
stomach 1	glandular cells	Low	Enhanced
stomach 2	glandular cells	Low	Enhanced
testis	Leydig cells	High	Enhanced
testis	elongated or late spermatids	Medium	Enhanced
testis	sertoli cells	High	Enhanced
thyroid gland	glandular cells	Medium	Enhanced
tonsil	squamous epithelial cells	High	Enhanced
urinary bladder	urothelial cells	Medium	Enhanced
vagina	squamous epithelial cells	High	Enhanced

Disease

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
autosomal dominant palmoplantar keratoderma and congenital alopecia	MONDO:0007083	Q82	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:104100	Orphanet:1010
syndactyly type 3	MONDO:0008514	Q70	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:186100	Orphanet:93404
syndactyly type 5	MONDO:0008516	Q70	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:186300	Orphanet:93406
craniometaphyseal dysplasia, autosomal recessive	MONDO:0009035	Q78	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:218400
hallermann-streiff syndrome	MONDO:0009318	Q87	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:234100	Orphanet:2108
hypoplastic left heart syndrome 1	MONDO:0009433	Q23	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:241550
oculodentodigital dysplasia, autosomal recessive	MONDO:0009768	Q87	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:257850
atrioventricular septal defect 3	MONDO:0010859	Q21	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:600309
erythrokeratodermia variabilis et progressiva 3	MONDO:0033013	Q82	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:617525

Summary of P17302

Gene: GJA1, GJAL
Protein: Gap junction alpha-1 protein

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of P17302

Gene: GJA1, GJAL Protein: Gap junction alpha-1 protein

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: GJA1, GJAL
Protein: Gap junction alpha-1 protein