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Protein

Gap junction alpha-4 protein

Gene

GJA4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

One 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.

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-190861 Gap junction assembly

Protein family/group databases

TCDBi1.A.24.1.6 the gap junction-forming connexin (connexin) family

Names & Taxonomyi

Protein namesi
Recommended name:
Gap junction alpha-4 protein
Alternative name(s):
Connexin-37
Short name:
Cx37
Gene namesi
Name:GJA4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000187513.8
HGNCiHGNC:4278 GJA4
MIMi121012 gene
neXtProtiNX_P35212

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 20CytoplasmicSequence analysisAdd BLAST20
Transmembranei21 – 40HelicalSequence analysisAdd BLAST20
Topological domaini41 – 76ExtracellularSequence analysisAdd BLAST36
Transmembranei77 – 99HelicalSequence analysisAdd BLAST23
Topological domaini100 – 148CytoplasmicSequence analysisAdd BLAST49
Transmembranei149 – 165HelicalSequence analysisAdd BLAST17
Topological domaini166 – 207ExtracellularSequence analysisAdd BLAST42
Transmembranei208 – 230HelicalSequence analysisAdd BLAST23
Topological domaini231 – 333CytoplasmicSequence analysisAdd BLAST103

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi2701
OpenTargetsiENSG00000187513
PharmGKBiPA28689

Polymorphism and mutation databases

BioMutaiGJA4
DMDMi8928555

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000578141 – 333Gap junction alpha-4 proteinAdd BLAST333

Proteomic databases

PaxDbiP35212
PeptideAtlasiP35212
PRIDEiP35212
ProteomicsDBi54983

PTM databases

iPTMnetiP35212
PhosphoSitePlusiP35212

Expressioni

Tissue specificityi

Expressed in multiple organs and tissues, including heart, uterus, ovary, and blood vessel endothelium.

Gene expression databases

BgeeiENSG00000187513 Expressed in 177 organ(s), highest expression level in tibial artery
CleanExiHS_GJA4
ExpressionAtlasiP35212 baseline and differential
GenevisibleiP35212 HS

Organism-specific databases

HPAiHPA047981

Interactioni

Subunit structurei

A connexon is composed of a hexamer of connexins.

Binary interactionsi

WithEntry#Exp.IntActNotes
OPRM1P353722EBI-6918707,EBI-2624570

Protein-protein interaction databases

BioGridi108968, 3 interactors
IntActiP35212, 6 interactors
STRINGi9606.ENSP00000343676

Structurei

3D structure databases

ProteinModelPortaliP35212
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IF97 Eukaryota
ENOG4110JTW LUCA
GeneTreeiENSGT00910000143998
HOVERGENiHBG009576
InParanoidiP35212
KOiK07613
OMAiSDFECNT
OrthoDBiEOG091G0FKH
PhylomeDBiP35212
TreeFamiTF329606

Family and domain databases

Gene3Di1.20.1440.80, 1 hit
InterProiView protein in InterPro
IPR000500 Connexin
IPR002263 Connexin37
IPR019570 Connexin_CCC
IPR017990 Connexin_CS
IPR013092 Connexin_N
IPR038359 Connexin_N_sf
PANTHERiPTHR11984 PTHR11984, 1 hit
PfamiView protein in Pfam
PF00029 Connexin, 1 hit
PRINTSiPR00206 CONNEXIN
PR01134 CONNEXINA4
SMARTiView protein in SMART
SM00037 CNX, 1 hit
SM01089 Connexin_CCC, 1 hit
PROSITEiView protein in PROSITE
PS00407 CONNEXINS_1, 1 hit
PS00408 CONNEXINS_2, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

P35212-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGDWGFLEKL LDQVQEHSTV VGKIWLTVLF IFRILILGLA GESVWGDEQS
60 70 80 90 100
DFECNTAQPG CTNVCYDQAF PISHIRYWVL QFLFVSTPTL VYLGHVIYLS
110 120 130 140 150
RREERLRQKE GELRALPAKD PQVERALAAV ERQMAKISVA EDGRLRIRGA
160 170 180 190 200
LMGTYVASVL CKSVLEAGFL YGQWRLYGWT MEPVFVCQRA PCPYLVDCFV
210 220 230 240 250
SRPTEKTIFI IFMLVVGLIS LVLNLLELVH LLCRCLSRGM RARQGQDAPP
260 270 280 290 300
TQGTSSDPYT DQVFFYLPVG QGPSSPPCPT YNGLSSSEQN WANLTTEERL
310 320 330
ASSRPPLFLD PPPQNGQKPP SRPSSSASKK QYV
Length:333
Mass (Da):37,414
Last modified:January 23, 2007 - v3
Checksum:i93AD224531E5EAD2
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5JW71Q5JW71_HUMAN
Gap junction protein
GJA4
292Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00915971P → S1 Publication1
Natural variantiVAR_009160128A → V1 PublicationCorresponds to variant dbSNP:rs147128480Ensembl.1
Natural variantiVAR_009161130V → I3 PublicationsCorresponds to variant dbSNP:rs41266431Ensembl.1
Natural variantiVAR_009162319P → S in allele CX37*2. 4 PublicationsCorresponds to variant dbSNP:rs1764391Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M96789 mRNA Translation: AAA52558.2
AF139100 Genomic DNA Translation: AAD31869.1
AF139101 Genomic DNA Translation: AAD31870.1
AF139102 Genomic DNA Translation: AAD31871.1
AF139103 Genomic DNA Translation: AAD31872.1
AF139104 Genomic DNA Translation: AAD31873.1
AF139105 Genomic DNA Translation: AAD31874.1
AF181620 mRNA Translation: AAD56940.1
AF132674 Genomic DNA Translation: AAF62342.1
AK291563 mRNA Translation: BAF84252.1
AL121988 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX07440.1
CH471059 Genomic DNA Translation: EAX07441.1
BC027889 mRNA Translation: AAH27889.1
BC072389 mRNA Translation: AAH72389.1
CCDSiCCDS30669.1
PIRiI55593
RefSeqiNP_002051.2, NM_002060.2
XP_005270807.1, XM_005270750.2
XP_016856532.1, XM_017001043.1
UniGeneiHs.296310

Genome annotation databases

EnsembliENST00000342280; ENSP00000343676; ENSG00000187513
GeneIDi2701
KEGGihsa:2701
UCSCiuc001bya.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M96789 mRNA Translation: AAA52558.2
AF139100 Genomic DNA Translation: AAD31869.1
AF139101 Genomic DNA Translation: AAD31870.1
AF139102 Genomic DNA Translation: AAD31871.1
AF139103 Genomic DNA Translation: AAD31872.1
AF139104 Genomic DNA Translation: AAD31873.1
AF139105 Genomic DNA Translation: AAD31874.1
AF181620 mRNA Translation: AAD56940.1
AF132674 Genomic DNA Translation: AAF62342.1
AK291563 mRNA Translation: BAF84252.1
AL121988 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX07440.1
CH471059 Genomic DNA Translation: EAX07441.1
BC027889 mRNA Translation: AAH27889.1
BC072389 mRNA Translation: AAH72389.1
CCDSiCCDS30669.1
PIRiI55593
RefSeqiNP_002051.2, NM_002060.2
XP_005270807.1, XM_005270750.2
XP_016856532.1, XM_017001043.1
UniGeneiHs.296310

3D structure databases

ProteinModelPortaliP35212
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108968, 3 interactors
IntActiP35212, 6 interactors
STRINGi9606.ENSP00000343676

Protein family/group databases

TCDBi1.A.24.1.6 the gap junction-forming connexin (connexin) family

PTM databases

iPTMnetiP35212
PhosphoSitePlusiP35212

Polymorphism and mutation databases

BioMutaiGJA4
DMDMi8928555

Proteomic databases

PaxDbiP35212
PeptideAtlasiP35212
PRIDEiP35212
ProteomicsDBi54983

Protocols and materials databases

DNASUi2701
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000342280; ENSP00000343676; ENSG00000187513
GeneIDi2701
KEGGihsa:2701
UCSCiuc001bya.3 human

Organism-specific databases

CTDi2701
DisGeNETi2701
EuPathDBiHostDB:ENSG00000187513.8
GeneCardsiGJA4
HGNCiHGNC:4278 GJA4
HPAiHPA047981
MIMi121012 gene
neXtProtiNX_P35212
OpenTargetsiENSG00000187513
PharmGKBiPA28689
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF97 Eukaryota
ENOG4110JTW LUCA
GeneTreeiENSGT00910000143998
HOVERGENiHBG009576
InParanoidiP35212
KOiK07613
OMAiSDFECNT
OrthoDBiEOG091G0FKH
PhylomeDBiP35212
TreeFamiTF329606

Enzyme and pathway databases

ReactomeiR-HSA-190861 Gap junction assembly

Miscellaneous databases

ChiTaRSiGJA4 human
GeneWikiiGJA4
GenomeRNAii2701
PROiPR:P35212
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000187513 Expressed in 177 organ(s), highest expression level in tibial artery
CleanExiHS_GJA4
ExpressionAtlasiP35212 baseline and differential
GenevisibleiP35212 HS

Family and domain databases

Gene3Di1.20.1440.80, 1 hit
InterProiView protein in InterPro
IPR000500 Connexin
IPR002263 Connexin37
IPR019570 Connexin_CCC
IPR017990 Connexin_CS
IPR013092 Connexin_N
IPR038359 Connexin_N_sf
PANTHERiPTHR11984 PTHR11984, 1 hit
PfamiView protein in Pfam
PF00029 Connexin, 1 hit
PRINTSiPR00206 CONNEXIN
PR01134 CONNEXINA4
SMARTiView protein in SMART
SM00037 CNX, 1 hit
SM01089 Connexin_CCC, 1 hit
PROSITEiView protein in PROSITE
PS00407 CONNEXINS_1, 1 hit
PS00408 CONNEXINS_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCXA4_HUMAN
AccessioniPrimary (citable) accession number: P35212
Secondary accession number(s): A8K698
, D3DPR4, Q9P106, Q9UBL1, Q9UNA9, Q9UNB0, Q9UNB1, Q9Y5N7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1994
Last sequence update: January 23, 2007
Last modified: September 12, 2018
This is version 161 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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