UniProtKB - P17302 (CXA1_HUMAN)

>sp|P17302|CXA1_HUMAN Gap junction alpha-1 protein OS=Homo sapiens OX=9606 GN=GJA1 PE=1 SV=2
MGDWSALGKLLDKVQAYSTAGGKVWLSVLFIFRILLLGTAVESAWGDEQSAFRCNTQQPG
CENVCYDKSFPISHVRFWVLQIIFVSVPTLLYLAHVFYVMRKEEKLNKKEEELKVAQTDG
VNVDMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIISILFKSIFEVAFLLIQWYIYGFS
LSAVYTCKRDPCPHQVDCFLSRPTEKTIFIIFMLVVSLVSLALNIIELFYVFFKGVKDRV
KGKSDPYHATSGALSPAKDCGSQKYAYFNGCSSPTAPLSPMSPPGYKLVTGDRNNSSCRN
YNKQASEQNWANYSAEQNRMGQAGSTISNSHAQPFDFPDDNQNSKKLAAGHELQPLAIVD
QRPSSRASSRASSRPRPDDLEI

Entry version 241 (17 Jun 2020)
Sequence version 2 (23 Jan 2007)
Previous versions | rss

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Protein

Gap junction alpha-1 protein

Gene

GJA1

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

Functionⁱ

Gap junction protein that acts as a regulator of bladder capacity. A gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph. Negative regulator of bladder functional capacity: acts by enhancing intercellular electrical and chemical transmission, thus sensitizing bladder muscles to cholinergic neural stimuli and causing them to contract (By similarity). May play a role in cell growth inhibition through the regulation of NOV expression and localization. Plays an essential role in gap junction communication in the ventricles (By similarity).By similarity

Caution

PubMed:7715640 reported a mutation Pro-364 linked to congenital heart diseases. PubMed:8873667 later shown that it is an artifact.Curated

PubMed:11741837 reported 2 mutations (Phe-11 and Ala-24) linked to non-syndromic autosomal recessive deafness (DFNBG). These mutations have subsequently been shown (PubMed:12457340) to involve the pseudogene of connexin-43 located on chromosome 5.1 Publication

GO - Molecular functionⁱ

Complete GO annotation on QuickGO ...

GO - Biological processⁱ

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Reactomeⁱ	R-HSA-190704 Oligomerization of connexins into connexons R-HSA-190827 Transport of connexins along the secretory pathway R-HSA-190840 Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane R-HSA-190861 Gap junction assembly R-HSA-190873 Gap junction degradation R-HSA-191650 Regulation of gap junction activity R-HSA-196025 Formation of annular gap junctions
SignaLinkⁱ	P17302
SIGNORⁱ	P17302

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Gap junction alpha-1 protein Alternative name(s): Connexin-43 Short name: Cx43 Gap junction 43 kDa heart protein
Gene namesⁱ	Name:GJA1 Synonyms:GJAL
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 6

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000152661.7
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:4274 GJA1
MIMⁱ	121014 gene
neXtProtⁱ	NX_P17302

Topology

Feature key	Position(s)	DescriptionActions	Length
Topological domainⁱ	1 – 13	CytoplasmicSequence analysisAdd BLAST	13
Transmembraneⁱ	14 – 36	HelicalSequence analysisAdd BLAST	23
Topological domainⁱ	37 – 76	ExtracellularSequence analysisAdd BLAST	40
Transmembraneⁱ	77 – 99	HelicalSequence analysisAdd BLAST	23
Topological domainⁱ	100 – 154	CytoplasmicSequence analysisAdd BLAST	55
Transmembraneⁱ	155 – 177	HelicalSequence analysisAdd BLAST	23
Topological domainⁱ	178 – 208	ExtracellularSequence analysisAdd BLAST	31
Transmembraneⁱ	209 – 231	HelicalSequence analysisAdd BLAST	23
Topological domainⁱ	232 – 382	CytoplasmicSequence analysisAdd BLAST	151

Keywords - Cellular componentⁱ

Cell junction, Cell membrane, Endoplasmic reticulum, Gap junction, Membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Oculodentodigital dysplasia (ODDD)17 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disease characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding. Cardiac abnormalities are observed in rare instances.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_058990	2	G → V in ODDD. 1 Publication	1
Natural variantⁱVAR_058991	7	L → V in ODDD. 1 Publication	1
Natural variantⁱVAR_078238	11	L → I in ODDD. 1 Publication	1
Natural variantⁱVAR_058992	11	L → P in ODDD. 2 PublicationsCorresponds to variant dbSNP:rs121912969EnsemblClinVar.	1
Natural variantⁱVAR_015747	17	Y → S in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893961EnsemblClinVar.	1
Natural variantⁱVAR_015748	18	S → P in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893962EnsemblClinVar.	1
Natural variantⁱVAR_015749	21	G → R in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893963EnsemblClinVar.	1
Natural variantⁱVAR_015750	22	G → E in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893964EnsemblClinVar.	1
Natural variantⁱVAR_015751	23	K → T in ODDD. 1 Publication	1
Natural variantⁱVAR_038356	27	S → P in ODDD. 1 Publication	1
Natural variantⁱVAR_038357	31	I → M in ODDD. 1 Publication	1
Natural variantⁱVAR_015752	40	A → V in ODDD. 4 PublicationsCorresponds to variant dbSNP:rs1554200992EnsemblClinVar.	1
Natural variantⁱVAR_070439	41 – 44	Missing in ODDD. 1 Publication	4
Natural variantⁱVAR_071009	47	D → H in ODDD. 1 Publication	1
Natural variantⁱVAR_015753	49	Q → K in ODDD. 1 Publication	1
Natural variantⁱVAR_058994	49	Q → P in ODDD. 1 Publication	1
Natural variantⁱVAR_058995	49	Q → QQ in ODDD. 1 Publication	1
Natural variantⁱVAR_015754	52	F → FF in ODDD. 1 Publication	1
Natural variantⁱVAR_058996	59	P → H in ODDD. 1 Publication	1
Natural variantⁱVAR_038358	69	S → Y in ODDD. 1 Publication	1
Natural variantⁱVAR_015755	76	R → S in ODDD. 1 PublicationCorresponds to variant dbSNP:rs267606845EnsemblClinVar.	1
Natural variantⁱVAR_071010	86	S → Y in ODDD; de novo mutation found in a sporadic case. 1 Publication	1
Natural variantⁱVAR_015756	90	L → V in ODDD. 1 Publication	1
Natural variantⁱVAR_058998	95	H → R in ODDD. 1 Publication	1
Natural variantⁱVAR_058999	96	V → A in ODDD. 1 Publication	1
Natural variantⁱVAR_059000	96	V → E in ODDD. 1 Publication	1
Natural variantⁱVAR_059001	96	V → M in ODDD. 1 PublicationCorresponds to variant dbSNP:rs28931601EnsemblClinVar.	1
Natural variantⁱVAR_015757	98	Y → C in ODDD. 1 Publication	1
Natural variantⁱVAR_015758	102	K → N in ODDD. 1 PublicationCorresponds to variant dbSNP:rs1554201011EnsemblClinVar.	1
Natural variantⁱVAR_059002	106	L → P in ODDD. 1 Publication	1
Natural variantⁱVAR_071011	106	L → R in ODDD. 1 Publication	1
Natural variantⁱVAR_059003	110	E → D in ODDD. 1 Publication	1
Natural variantⁱVAR_038359	113	L → P in ODDD. 2 Publications	1
Natural variantⁱVAR_015759	130	I → T in ODDD. 1 PublicationCorresponds to variant dbSNP:rs1554201017EnsemblClinVar.	1
Natural variantⁱVAR_015760	134	K → E in ODDD. 1 Publication	1
Natural variantⁱVAR_038360	134	K → N in ODDD. 1 Publication	1
Natural variantⁱVAR_015761	138	G → R in ODDD. 1 Publication	1
Natural variantⁱVAR_059004	147	M → T in ODDD. 1 PublicationCorresponds to variant dbSNP:rs1057518872EnsemblClinVar.	1
Natural variantⁱVAR_014095	148	R → Q in ODDD. 1 PublicationCorresponds to variant dbSNP:rs962041031EnsemblClinVar.	1
Natural variantⁱVAR_059005	154	T → A in ODDD. 2 Publications	1
Natural variantⁱVAR_059006	154	T → N in ODDD. 1 Publication	1
Natural variantⁱVAR_059007	169	Missing in ODDD. 1 Publication	1
Natural variantⁱVAR_059008	194	H → P in ODDD; atypical form of ODDD characterized by the predominance of the ocular involvement and by the absence of hand and/or foot syndactyly and absence of any neurologic signs. 1 PublicationCorresponds to variant dbSNP:rs104893966EnsemblClinVar.	1
Natural variantⁱVAR_059009	201	S → F in ODDD. 1 Publication	1
Natural variantⁱVAR_015762	202	R → H in ODDD. 3 PublicationsCorresponds to variant dbSNP:rs750294638EnsemblClinVar.	1
Natural variantⁱVAR_070440	206	K → R in ODDD. 1 PublicationCorresponds to variant dbSNP:rs397518464EnsemblClinVar.	1
Natural variantⁱVAR_015763	216	V → L in ODDD. 1 PublicationCorresponds to variant dbSNP:rs1554201043EnsemblClinVar.	1
Natural variantⁱVAR_059010	220	S → Y in ODDD. 1 Publication	1

Oculodentodigital dysplasia, autosomal recessive (ODDD-AR)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Related information in OMIM

Syndactyly 3 (SDTY3)1 Publication

The disease may be caused by mutations affecting the gene represented in this entry.

Disease descriptionA form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. In SDTY3, there is usually complete and bilateral syndactyly between the fourth and fifth fingers. Usually it is soft tissue syndactyly but occasionally the distal phalanges are fused. The fifth finger is short with absent or rudimentary middle phalanx. The feet are not affected.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_038361	143	G → S in SDTY3. 1 PublicationCorresponds to variant dbSNP:rs28931600EnsemblClinVar.		1

Hypoplastic left heart syndrome 1 (HLHS1)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA syndrome due to defective development of the aorta proximal to the entrance of the ductus arteriosus, and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_032924	362	R → Q in HLHS1 and AVSD3; unknown pathological significance; associated with Q-376 in one individual with atrioventricular septal defect; abolishes phosphorylation by PKA and PKC. 1 PublicationCorresponds to variant dbSNP:rs2227885EnsemblClinVar.		1
Natural variantⁱVAR_032925	376	R → Q in HLHS1 and AVSD3; unknown pathological significance; associated with Q-362 in one individual with atrioventricular septal defect; abolishes phosphorylation by PKA and PKC. 1 PublicationCorresponds to variant dbSNP:rs104893965EnsemblClinVar.		1

Hallermann-Streiff syndrome (HSS)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies and proportionate short stature. Mental retardation is present in a minority of cases.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_058997	76	R → H in HSS; overlapping features with oculodentodigital dysplasia. 1 PublicationCorresponds to variant dbSNP:rs267606844EnsemblClinVar.		1

Atrioventricular septal defect 3 (AVSD3)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_032924	362	R → Q in HLHS1 and AVSD3; unknown pathological significance; associated with Q-376 in one individual with atrioventricular septal defect; abolishes phosphorylation by PKA and PKC. 1 PublicationCorresponds to variant dbSNP:rs2227885EnsemblClinVar.		1
Natural variantⁱVAR_032925	376	R → Q in HLHS1 and AVSD3; unknown pathological significance; associated with Q-362 in one individual with atrioventricular septal defect; abolishes phosphorylation by PKA and PKC. 1 PublicationCorresponds to variant dbSNP:rs104893965EnsemblClinVar.		1

Craniometaphyseal dysplasia, autosomal recessive (CMDR)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_070441	239	R → Q in CMDR. 1 PublicationCorresponds to variant dbSNP:rs764670582EnsemblClinVar.		1

Erythrokeratodermia variabilis et progressiva 3 (EKVP3)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_075755	44	A → V in EKVP3; loss of localization to the plasma membrane, retention in the Golgi apparatus. 1 PublicationCorresponds to variant dbSNP:rs794729675EnsemblClinVar.		1
Natural variantⁱVAR_075756	227	E → D in EKVP3; loss of localization to the plasma membrane, retention in the Golgi apparatus. 1 PublicationCorresponds to variant dbSNP:rs875989815EnsemblClinVar.		1

Palmoplantar keratoderma and congenital alopecia 1 (PPKCA1)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA rare autosomal dominant disorder characterized by severe hyperkeratosis of the palms and soles, and congenital hypotrichosis or alopecia. Dystrophic nail changes occur in some patients.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_075754	8	G → V in PPKCA1; can form functional gap junctions; results in enhanced hemichannel activity that causes increased cell death. 1 PublicationCorresponds to variant dbSNP:rs864309644EnsemblClinVar.		1

Keywords - Diseaseⁱ

Cataract, Disease mutation, Hypotrichosis, Palmoplantar keratoderma

Organism-specific databases

DisGeNET More...DisGeNETⁱ	2697
MalaCards human disease database More...MalaCardsⁱ	GJA1
MIMⁱ	104100 phenotype 164200 phenotype 186100 phenotype 218400 phenotype 234100 phenotype 241550 phenotype 257850 phenotype 600309 phenotype 617525 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000152661
Orphanetⁱ	1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia 90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB 1522 Craniometaphyseal dysplasia 317 Erythrokeratodermia variabilis 2248 Hypoplastic left heart syndrome 2710 Oculodentodigital dysplasia 93404 Syndactyly type 3
PharmGKBⁱ	PA28685

Miscellaneous databases

Pharosⁱ	P17302 Tbio

Pharosⁱ

P17302 Tbio

Chemistry databases

Drug and drug target database More...DrugBankⁱ	DB01136 Carvedilol

DrugBankⁱ

DB01136 Carvedilol

Polymorphism and mutation databases

BioMutaⁱ	GJA1
DMDMⁱ	117706

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000057801	1 – 382	Gap junction alpha-1 proteinAdd BLAST		382

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	5	PhosphoserineBy similarity	1
Disulfide bondⁱ	54 ↔ 192	1 Publication
Cross-linkⁱ	144	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication
Disulfide bondⁱ	187 ↔ 198	1 Publication
Cross-linkⁱ	237	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication
Modified residueⁱ	247	PhosphotyrosineBy similarity	1
Modified residueⁱ	255	PhosphoserineCombined sources1 Publication	1
Modified residueⁱ	262	Phosphoserine2 Publications	1
Modified residueⁱ	271	S-nitrosocysteineBy similarity	1
Modified residueⁱ	275	PhosphothreonineBy similarity	1
Modified residueⁱ	306	PhosphoserineBy similarity	1
Modified residueⁱ	314	PhosphoserineCombined sources	1
Modified residueⁱ	325	Phosphoserine; by CK11 Publication	1
Modified residueⁱ	326	PhosphothreonineBy similarity	1
Modified residueⁱ	328	Phosphoserine; by CK11 Publication	1
Modified residueⁱ	330	Phosphoserine; by CK11 Publication	1
Modified residueⁱ	344	PhosphoserineCombined sources	1
Modified residueⁱ	365	PhosphoserineBy similarity	1
Modified residueⁱ	368	Phosphoserine; by PKC/PRKCG and PKC/PRKCDBy similarity	1
Modified residueⁱ	369	PhosphoserineBy similarity	1
Modified residueⁱ	373	PhosphoserineBy similarity	1

Post-translational modificationⁱ

Phosphorylated at Ser-368 by PRKCG; phosphorylation induces disassembly of gap junction plaques and inhibition of gap junction activity (By similarity). Phosphorylation at Ser-325, Ser-328 and Ser-330 by CK1 modulates gap junction assembly. Phosphorylation at Ser-368 by PRKCD triggers its internalization into small vesicles leading to proteasome-mediated degradation (By similarity).By similarity3 Publications

Sumoylated with SUMO1, SUMO2 and SUMO3, which may regulate the level of functional Cx43 gap junctions at the plasma membrane. May be desumoylated by SENP1 or SENP2.1 Publication

S-nitrosylation at Cys-271 is enriched at the muscle endothelial gap junction in arteries, it augments channel permeability and may regulate of smooth muscle cell to endothelial cell communication.By similarity

Acetylated in the developing cortex; leading to delocalization from the cell membrane.By similarity

Keywords - PTMⁱ

Acetylation, Disulfide bond, Isopeptide bond, Phosphoprotein, S-nitrosylation, Ubl conjugation

Proteomic databases

EPDⁱ	P17302
jPOSTⁱ	P17302
MassIVEⁱ	P17302
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P17302
PaxDbⁱ	P17302
PeptideAtlas More...PeptideAtlasⁱ	P17302
PRIDEⁱ	P17302
ProteomicsDBⁱ	53467
TopDownProteomicsⁱ	P17302

PTM databases

iPTMnetⁱ	P17302
PhosphoSitePlusⁱ	P17302

Expressionⁱ

Tissue specificityⁱ

Expressed in the heart and fetal cochlea.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000152661 Expressed in pigmented layer of retina and 235 other tissues
Genevisibleⁱ	P17302 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	ENSG00000152661 Low tissue specificity

HPAⁱ

ENSG00000152661 Low tissue specificity

Interactionⁱ

Subunit structureⁱ

A connexon is composed of a hexamer of connexins.

Interacts (via C-terminus) with TJP1 (By similarity).

Interacts (via C-terminus) with SRC (via SH3 domain) (By similarity).

Interacts (not ubiquitinated) with UBQLN4 (via UBA domain) (By similarity).

Interacts with SGSM3 and CNST (By similarity).

Interacts with RIC1/CIP150.

Interacts with CSNK1D.

Interacts with NOV (PubMed:15181016, PubMed:15213231).

Interacts with TMEM65 (By similarity).

By similarity4 Publications

Binary interactionsⁱ

Hide details

P17302

With	#Exp.	IntAct
CREB3 - isoform 1 [O43889-2]	4	EBI-1103439,EBI-625022
DSC2 - isoform 2A [Q02487-1]	2	EBI-1103439,EBI-6900677
NINJ2 [Q9NZG7]	3	EBI-1103439,EBI-10317425
PLPP4 [Q5VZY2]	3	EBI-1103439,EBI-10485931
TJP1 [Q07157]	3	EBI-1103439,EBI-79553
TMEM128 - isoform 2 [Q5BJH2-2]	3	EBI-1103439,EBI-10694905
TMEM86B [Q8N661]	3	EBI-1103439,EBI-2548832

GO - Molecular functionⁱ

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGRIDⁱ	108964, 75 interactors
IntActⁱ	P17302, 42 interactors
Molecular INTeraction database More...MINTⁱ	P17302
STRINGⁱ	9606.ENSP00000282561

Miscellaneous databases

RNActⁱ	P17302 protein

RNActⁱ

P17302 protein

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	240 – 242	Combined sources	3
Helixⁱ	246 – 253	Combined sources	8
Helixⁱ	255 – 257	Combined sources	3

Show more details

3D structure databases

SMRⁱ	P17302
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Family & Domainsⁱ

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	244 – 382	Interaction with NOVBy similarityAdd BLAST		139
Regionⁱ	264 – 382	Interaction with UBQLN4By similarityAdd BLAST		119

Sequence similaritiesⁱ

Belongs to the connexin family. Alpha-type (group II) subfamily.Curated

Keywords - Domainⁱ

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	ENOG410IF97 Eukaryota ENOG4110JTW LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00990000203503
HOGENOMⁱ	CLU_037388_0_0_1
InParanoidⁱ	P17302
KEGG Orthology (KO) More...KOⁱ	K07372
OMAⁱ	LVIQWYM
Database of Orthologous Groups More...OrthoDBⁱ	519426at2759
PhylomeDBⁱ	P17302
TreeFamⁱ	TF329606

Family and domain databases

Gene3Dⁱ	1.20.1440.80, 1 hit 1.20.5.1130, 1 hit
InterProⁱ	View protein in InterPro IPR035091 Alpha_helix_dom_sf IPR000500 Connexin IPR002261 Connexin43 IPR013124 Connexin43_C IPR034634 Connexin_C IPR019570 Connexin_CCC IPR017990 Connexin_CS IPR013092 Connexin_N IPR038359 Connexin_N_sf
PANTHERⁱ	PTHR11984 PTHR11984, 1 hit PTHR11984:SF33 PTHR11984:SF33, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00029 Connexin, 1 hit PF03508 Connexin43, 1 hit
PRINTSⁱ	PR00206 CONNEXIN PR01132 CONNEXINA1
SMARTⁱ	View protein in SMART SM00037 CNX, 1 hit SM01089 Connexin_CCC, 1 hit
SUPFAMⁱ	SSF118220 SSF118220, 1 hit
PROSITEⁱ	View protein in PROSITE PS00407 CONNEXINS_1, 1 hit PS00408 CONNEXINS_2, 1 hit

Sequenceⁱ

Sequence statusⁱ: Complete.

P17302-1 [UniParc]FASTA Add to basket

« Hide

        10         20         30         40         50
MGDWSALGKL LDKVQAYSTA GGKVWLSVLF IFRILLLGTA VESAWGDEQS 
        60         70         80         90        100
AFRCNTQQPG CENVCYDKSF PISHVRFWVL QIIFVSVPTL LYLAHVFYVM 
       110        120        130        140        150
RKEEKLNKKE EELKVAQTDG VNVDMHLKQI EIKKFKYGIE EHGKVKMRGG 
       160        170        180        190        200
LLRTYIISIL FKSIFEVAFL LIQWYIYGFS LSAVYTCKRD PCPHQVDCFL 
       210        220        230        240        250
SRPTEKTIFI IFMLVVSLVS LALNIIELFY VFFKGVKDRV KGKSDPYHAT 
       260        270        280        290        300
SGALSPAKDC GSQKYAYFNG CSSPTAPLSP MSPPGYKLVT GDRNNSSCRN 
       310        320        330        340        350
YNKQASEQNW ANYSAEQNRM GQAGSTISNS HAQPFDFPDD NQNSKKLAAG 
       360        370        380 
HELQPLAIVD QRPSSRASSR ASSRPRPDDL EI

Length:382

Mass (Da):43,008

Last modified:January 23, 2007 - v2

Checksum:ⁱ7DDDAD8040284176

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_058990	2	G → V in ODDD. 1 Publication	1
Natural variantⁱVAR_058991	7	L → V in ODDD. 1 Publication	1
Natural variantⁱVAR_075754	8	G → V in PPKCA1; can form functional gap junctions; results in enhanced hemichannel activity that causes increased cell death. 1 PublicationCorresponds to variant dbSNP:rs864309644EnsemblClinVar.	1
Natural variantⁱVAR_078238	11	L → I in ODDD. 1 Publication	1
Natural variantⁱVAR_058992	11	L → P in ODDD. 2 PublicationsCorresponds to variant dbSNP:rs121912969EnsemblClinVar.	1
Natural variantⁱVAR_015747	17	Y → S in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893961EnsemblClinVar.	1
Natural variantⁱVAR_015748	18	S → P in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893962EnsemblClinVar.	1
Natural variantⁱVAR_015749	21	G → R in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893963EnsemblClinVar.	1
Natural variantⁱVAR_015750	22	G → E in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893964EnsemblClinVar.	1
Natural variantⁱVAR_015751	23	K → T in ODDD. 1 Publication	1
Natural variantⁱVAR_038356	27	S → P in ODDD. 1 Publication	1
Natural variantⁱVAR_038357	31	I → M in ODDD. 1 Publication	1
Natural variantⁱVAR_015752	40	A → V in ODDD. 4 PublicationsCorresponds to variant dbSNP:rs1554200992EnsemblClinVar.	1
Natural variantⁱVAR_070439	41 – 44	Missing in ODDD. 1 Publication	4
Natural variantⁱVAR_058993	41	V → L Found in a patient with hidrotic ectodermal dysplasia, abortive features of oculodentodigital dysplasia and extensive hyperkeratosis of the skin; unknown pathological significance; the patient also carries GJB2 variant H-127. 1 Publication	1
Natural variantⁱVAR_075755	44	A → V in EKVP3; loss of localization to the plasma membrane, retention in the Golgi apparatus. 1 PublicationCorresponds to variant dbSNP:rs794729675EnsemblClinVar.	1
Natural variantⁱVAR_071009	47	D → H in ODDD. 1 Publication	1
Natural variantⁱVAR_015753	49	Q → K in ODDD. 1 Publication	1
Natural variantⁱVAR_058994	49	Q → P in ODDD. 1 Publication	1
Natural variantⁱVAR_058995	49	Q → QQ in ODDD. 1 Publication	1
Natural variantⁱVAR_015754	52	F → FF in ODDD. 1 Publication	1
Natural variantⁱVAR_058996	59	P → H in ODDD. 1 Publication	1
Natural variantⁱVAR_038358	69	S → Y in ODDD. 1 Publication	1
Natural variantⁱVAR_058997	76	R → H in HSS; overlapping features with oculodentodigital dysplasia. 1 PublicationCorresponds to variant dbSNP:rs267606844EnsemblClinVar.	1
Natural variantⁱVAR_015755	76	R → S in ODDD. 1 PublicationCorresponds to variant dbSNP:rs267606845EnsemblClinVar.	1
Natural variantⁱVAR_071010	86	S → Y in ODDD; de novo mutation found in a sporadic case. 1 Publication	1
Natural variantⁱVAR_015756	90	L → V in ODDD. 1 Publication	1
Natural variantⁱVAR_058998	95	H → R in ODDD. 1 Publication	1
Natural variantⁱVAR_058999	96	V → A in ODDD. 1 Publication	1
Natural variantⁱVAR_059000	96	V → E in ODDD. 1 Publication	1
Natural variantⁱVAR_059001	96	V → M in ODDD. 1 PublicationCorresponds to variant dbSNP:rs28931601EnsemblClinVar.	1
Natural variantⁱVAR_015757	98	Y → C in ODDD. 1 Publication	1
Natural variantⁱVAR_015758	102	K → N in ODDD. 1 PublicationCorresponds to variant dbSNP:rs1554201011EnsemblClinVar.	1
Natural variantⁱVAR_059002	106	L → P in ODDD. 1 Publication	1
Natural variantⁱVAR_071011	106	L → R in ODDD. 1 Publication	1
Natural variantⁱVAR_059003	110	E → D in ODDD. 1 Publication	1
Natural variantⁱVAR_038359	113	L → P in ODDD. 2 Publications	1
Natural variantⁱVAR_015759	130	I → T in ODDD. 1 PublicationCorresponds to variant dbSNP:rs1554201017EnsemblClinVar.	1
Natural variantⁱVAR_015760	134	K → E in ODDD. 1 Publication	1
Natural variantⁱVAR_038360	134	K → N in ODDD. 1 Publication	1
Natural variantⁱVAR_015761	138	G → R in ODDD. 1 Publication	1
Natural variantⁱVAR_038361	143	G → S in SDTY3. 1 PublicationCorresponds to variant dbSNP:rs28931600EnsemblClinVar.	1
Natural variantⁱVAR_059004	147	M → T in ODDD. 1 PublicationCorresponds to variant dbSNP:rs1057518872EnsemblClinVar.	1
Natural variantⁱVAR_014095	148	R → Q in ODDD. 1 PublicationCorresponds to variant dbSNP:rs962041031EnsemblClinVar.	1
Natural variantⁱVAR_059005	154	T → A in ODDD. 2 Publications	1
Natural variantⁱVAR_059006	154	T → N in ODDD. 1 Publication	1
Natural variantⁱVAR_014096	168	A → T. Corresponds to variant dbSNP:rs2228961Ensembl.	1
Natural variantⁱVAR_059007	169	Missing in ODDD. 1 Publication	1
Natural variantⁱVAR_059008	194	H → P in ODDD; atypical form of ODDD characterized by the predominance of the ocular involvement and by the absence of hand and/or foot syndactyly and absence of any neurologic signs. 1 PublicationCorresponds to variant dbSNP:rs104893966EnsemblClinVar.	1
Natural variantⁱVAR_059009	201	S → F in ODDD. 1 Publication	1
Natural variantⁱVAR_015762	202	R → H in ODDD. 3 PublicationsCorresponds to variant dbSNP:rs750294638EnsemblClinVar.	1
Natural variantⁱVAR_070440	206	K → R in ODDD. 1 PublicationCorresponds to variant dbSNP:rs397518464EnsemblClinVar.	1
Natural variantⁱVAR_015763	216	V → L in ODDD. 1 PublicationCorresponds to variant dbSNP:rs1554201043EnsemblClinVar.	1
Natural variantⁱVAR_059010	220	S → Y in ODDD. 1 Publication	1
Natural variantⁱVAR_075756	227	E → D in EKVP3; loss of localization to the plasma membrane, retention in the Golgi apparatus. 1 PublicationCorresponds to variant dbSNP:rs875989815EnsemblClinVar.	1
Natural variantⁱVAR_070441	239	R → Q in CMDR. 1 PublicationCorresponds to variant dbSNP:rs764670582EnsemblClinVar.	1
Natural variantⁱVAR_014100	239	R → W in congenital heart malformations. 1 Publication	1
Natural variantⁱVAR_059011	251	S → T in congenital heart malformations. 1 Publication	1
Natural variantⁱVAR_059012	253	A → P in congenital heart malformations. 1 Publication	1
Natural variantⁱVAR_015764	253	A → V1 PublicationCorresponds to variant dbSNP:rs17653265EnsemblClinVar.	1
Natural variantⁱVAR_014101	283	P → L in congenital heart malformations. 1 Publication	1
Natural variantⁱVAR_014102	290	T → N in congenital heart malformations. 1 Publication	1
Natural variantⁱVAR_059013	326	T → A1 Publication	1
Natural variantⁱVAR_059014	352	E → G in heart malformations. 1 Publication	1
Natural variantⁱVAR_032924	362	R → Q in HLHS1 and AVSD3; unknown pathological significance; associated with Q-376 in one individual with atrioventricular septal defect; abolishes phosphorylation by PKA and PKC. 1 PublicationCorresponds to variant dbSNP:rs2227885EnsemblClinVar.	1
Natural variantⁱVAR_059015	364	S → P in heart malformations; shows abnormalities in the regulation of cell-cell communication as compared with cells expressing normal GJA1. 1 Publication	1
Natural variantⁱVAR_059016	365	S → N in heart malformations. 1 Publication	1
Natural variantⁱVAR_059017	373	S → G1 Publication	1
Natural variantⁱVAR_032925	376	R → Q in HLHS1 and AVSD3; unknown pathological significance; associated with Q-362 in one individual with atrioventricular septal defect; abolishes phosphorylation by PKA and PKC. 1 PublicationCorresponds to variant dbSNP:rs104893965EnsemblClinVar.	1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	X52947 mRNA Translation: CAA37122.1 M65188 mRNA Translation: AAA52131.1 AF151980 Genomic DNA Translation: AAD37802.2 CR541660 mRNA Translation: CAG46461.1 AK312324 mRNA Translation: BAG35246.1 AL139098 Genomic DNA No translation available. CH471051 Genomic DNA Translation: EAW48178.1 BC026329 mRNA Translation: AAH26329.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS5123.1
PIRⁱ	A35853
NCBI Reference Sequences More...RefSeqⁱ	NP_000156.1, NM_000165.4

Genome annotation databases

Ensemblⁱ	ENST00000282561; ENSP00000282561; ENSG00000152661 ENST00000647564; ENSP00000497565; ENSG00000152661 ENST00000649003; ENSP00000497283; ENSG00000152661 ENST00000650427; ENSP00000497367; ENSG00000152661
GeneIDⁱ	2697
KEGGⁱ	hsa:2697
UCSC genome browser More...UCSCⁱ	uc003pyr.4 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
P17302	Connexin K2		HUMAN		382	UniRef100_P17302
Gap junction protein		HUMAN		283

Protein	Similar proteins		Species	Score	Length	Source
P17302	Gap junction alpha-1 protein		BOVIN		383	UniRef90_P17302
Gap junction alpha-1 protein		PIG		382
Gap junction alpha-1 protein		RABIT		382
Gap junction alpha-1 protein		CANLF		382
Gap junction alpha-1 protein	)	RAT		382
+154

Protein	Similar proteins		Species	Score	Length	Source
P17302	Gap junction alpha-1 protein		BOVIN		383	UniRef50_P17302
Gap junction alpha-1 protein	)	RAT		382
Gap junction alpha-1 protein		CANLF		382
Gap junction alpha-1 protein		PIG		382
Gap junction alpha-1 protein		RABIT		382
+388

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	X52947 mRNA Translation: CAA37122.1 M65188 mRNA Translation: AAA52131.1 AF151980 Genomic DNA Translation: AAD37802.2 CR541660 mRNA Translation: CAG46461.1 AK312324 mRNA Translation: BAG35246.1 AL139098 Genomic DNA No translation available. CH471051 Genomic DNA Translation: EAW48178.1 BC026329 mRNA Translation: AAH26329.1
CCDSⁱ	CCDS5123.1
PIRⁱ	A35853
RefSeqⁱ	NP_000156.1, NM_000165.4

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	2LL2	NMR	-	A	234-259	[»]
SMRⁱ	P17302
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Protein-protein interaction databases

BioGRIDⁱ	108964, 75 interactors
IntActⁱ	P17302, 42 interactors
MINTⁱ	P17302
STRINGⁱ	9606.ENSP00000282561

Chemistry databases

DrugBankⁱ	DB01136 Carvedilol

DrugBankⁱ

DB01136 Carvedilol

PTM databases

iPTMnetⁱ	P17302
PhosphoSitePlusⁱ	P17302

Polymorphism and mutation databases

BioMutaⁱ	GJA1
DMDMⁱ	117706

Proteomic databases

EPDⁱ	P17302
jPOSTⁱ	P17302
MassIVEⁱ	P17302
MaxQBⁱ	P17302
PaxDbⁱ	P17302
PeptideAtlasⁱ	P17302
PRIDEⁱ	P17302
ProteomicsDBⁱ	53467
TopDownProteomicsⁱ	P17302

Protocols and materials databases

Antibodypediaⁱ	4382 1158 antibodies
The DNASU plasmid repository More...DNASUⁱ	2697

Genome annotation databases

Ensemblⁱ	ENST00000282561; ENSP00000282561; ENSG00000152661 ENST00000647564; ENSP00000497565; ENSG00000152661 ENST00000649003; ENSP00000497283; ENSG00000152661 ENST00000650427; ENSP00000497367; ENSG00000152661
GeneIDⁱ	2697
KEGGⁱ	hsa:2697
UCSCⁱ	uc003pyr.4 human

Organism-specific databases

CTDⁱ	2697
DisGeNETⁱ	2697
EuPathDBⁱ	HostDB:ENSG00000152661.7
GeneCardsⁱ	GJA1
HGNCⁱ	HGNC:4274 GJA1
HPAⁱ	ENSG00000152661 Low tissue specificity
MalaCardsⁱ	GJA1
MIMⁱ	104100 phenotype 121014 gene 164200 phenotype 186100 phenotype 218400 phenotype 234100 phenotype 241550 phenotype 257850 phenotype 600309 phenotype 617525 phenotype
neXtProtⁱ	NX_P17302
OpenTargetsⁱ	ENSG00000152661
Orphanetⁱ	1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia 90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB 1522 Craniometaphyseal dysplasia 317 Erythrokeratodermia variabilis 2248 Hypoplastic left heart syndrome 2710 Oculodentodigital dysplasia 93404 Syndactyly type 3
PharmGKBⁱ	PA28685
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410IF97 Eukaryota ENOG4110JTW LUCA
GeneTreeⁱ	ENSGT00990000203503
HOGENOMⁱ	CLU_037388_0_0_1
InParanoidⁱ	P17302
KOⁱ	K07372
OMAⁱ	LVIQWYM
OrthoDBⁱ	519426at2759
PhylomeDBⁱ	P17302
TreeFamⁱ	TF329606

Enzyme and pathway databases

Reactomeⁱ	R-HSA-190704 Oligomerization of connexins into connexons R-HSA-190827 Transport of connexins along the secretory pathway R-HSA-190840 Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane R-HSA-190861 Gap junction assembly R-HSA-190873 Gap junction degradation R-HSA-191650 Regulation of gap junction activity R-HSA-196025 Formation of annular gap junctions
SignaLinkⁱ	P17302
SIGNORⁱ	P17302

Miscellaneous databases

BioGRID-ORCSⁱ	2697 24 hits in 780 CRISPR screens
ChiTaRSⁱ	GJA1 human
GeneWikiⁱ	GJA1
GenomeRNAiⁱ	2697
Pharosⁱ	P17302 Tbio
Protein Ontology More...PROⁱ	PR:P17302
RNActⁱ	P17302 protein
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000152661 Expressed in pigmented layer of retina and 235 other tissues
Genevisibleⁱ	P17302 HS

Family and domain databases

Gene3Dⁱ	1.20.1440.80, 1 hit 1.20.5.1130, 1 hit
InterProⁱ	View protein in InterPro IPR035091 Alpha_helix_dom_sf IPR000500 Connexin IPR002261 Connexin43 IPR013124 Connexin43_C IPR034634 Connexin_C IPR019570 Connexin_CCC IPR017990 Connexin_CS IPR013092 Connexin_N IPR038359 Connexin_N_sf
PANTHERⁱ	PTHR11984 PTHR11984, 1 hit PTHR11984:SF33 PTHR11984:SF33, 1 hit
Pfamⁱ	View protein in Pfam PF00029 Connexin, 1 hit PF03508 Connexin43, 1 hit
PRINTSⁱ	PR00206 CONNEXIN PR01132 CONNEXINA1
SMARTⁱ	View protein in SMART SM00037 CNX, 1 hit SM01089 Connexin_CCC, 1 hit
SUPFAMⁱ	SSF118220 SSF118220, 1 hit
PROSITEⁱ	View protein in PROSITE PS00407 CONNEXINS_1, 1 hit PS00408 CONNEXINS_2, 1 hit
ProtoNetⁱ	Search...
MobiDBⁱ	Search...

Entry informationⁱ

Entry nameⁱ	CXA1_HUMAN
Accessionⁱ	P17302Primary (citable) accession number: P17302 Secondary accession number(s): B2R5U9, Q6FHU1, Q9Y5I8
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	August 1, 1990
	Last sequence update:	January 23, 2007
	Last modified:	June 17, 2020
	This is version 241 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Reference proteome

Documents

PDB cross-references
Index of Protein Data Bank (PDB) cross-references
SIMILARITY comments
Index of protein domains and families
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM

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UniProtKB - P17302 (CXA1_HUMAN)

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Gap junction alpha-1 protein

GJA1

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Caution

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Endoplasmic reticulum

Plasma membrane

Other locations

Endoplasmic reticulum

Endosome

Golgi apparatus

Lysosome

Mitochondrion

Nucleus

Plasma Membrane

Other locations

Topology

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Miscellaneous databases

Chemistry databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

P17302

GO - Molecular functioni

Protein-protein interaction databases

Miscellaneous databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ