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Protein

Gap junction alpha-9 protein

Gene

GJA9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript 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.By similarity

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-190861 Gap junction assembly

Names & Taxonomyi

Protein namesi
Recommended name:
Gap junction alpha-9 protein
Alternative name(s):
Connexin-58
Short name:
Cx58
Connexin-59
Short name:
Cx59
Gap junction alpha-10 protein
Gene namesi
Name:GJA9
Synonyms:GJA10
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000131233.9
HGNCiHGNC:19155 GJA9
MIMi611923 gene
neXtProtiNX_P57773

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 – 19CytoplasmicSequence analysisAdd BLAST19
Transmembranei20 – 40HelicalSequence analysisAdd BLAST21
Topological domaini41 – 77ExtracellularSequence analysisAdd BLAST37
Transmembranei78 – 98HelicalSequence analysisAdd BLAST21
Topological domaini99 – 166CytoplasmicSequence analysisAdd BLAST68
Transmembranei167 – 187HelicalSequence analysisAdd BLAST21
Topological domaini188 – 209ExtracellularSequence analysisAdd BLAST22
Transmembranei210 – 230HelicalSequence analysisAdd BLAST21
Topological domaini231 – 515CytoplasmicSequence analysisAdd BLAST285

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi81025
PharmGKBiPA164741587

Polymorphism and mutation databases

BioMutaiGJA9
DMDMi50403749

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000578401 – 515Gap junction alpha-9 proteinAdd BLAST515

Proteomic databases

PaxDbiP57773
PeptideAtlasiP57773
PRIDEiP57773

Expressioni

Tissue specificityi

Highly abundant in skeletal muscle. Also detected in testis.1 Publication

Gene expression databases

BgeeiENSG00000131233
CleanExiHS_GJA10
HS_GJA9
GenevisibleiP57773 HS

Organism-specific databases

HPAiHPA067850

Interactioni

Subunit structurei

A connexon is composed of a hexamer of connexins.By similarity

Protein-protein interaction databases

BioGridi123346, 1 interactor
STRINGi9606.ENSP00000350415

Structurei

3D structure databases

ProteinModelPortaliP57773
SMRiP57773
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IGQJ Eukaryota
ENOG4110KSA LUCA
GeneTreeiENSGT00910000143998
HOGENOMiHOG000231127
HOVERGENiHBG094583
InParanoidiP57773
KOiK07618
OMAiWGQYKLK
OrthoDBiEOG091G06LA
PhylomeDBiP57773
TreeFamiTF329606

Family and domain databases

Gene3Di1.20.1440.80, 1 hit
InterProiView protein in InterPro
IPR000500 Connexin
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
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

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P57773-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGDWNLLGDT LEEVHIHSTM IGKIWLTILF IFRMLVLGVA AEDVWNDEQS
60 70 80 90 100
GFICNTEQPG CRNVCYDQAF PISLIRYWVL QVIFVSSPSL VYMGHALYRL
110 120 130 140 150
RVLEEERQRM KAQLRVELEE VEFEMPRDRR RLEQELCQLE KRKLNKAPLR
160 170 180 190 200
GTLLCTYVIH IFTRSVVEVG FMIGQYLLYG FHLEPLFKCH GHPCPNIIDC
210 220 230 240 250
FVSRPTEKTI FLLFMQSIAT ISLFLNILEI FHLGFKKIKR GLWGKYKLKK
260 270 280 290 300
EHNEFHANKA KQNVAKYQST SANSLKRLPS APDYNLLVEK QTHTAVYPSL
310 320 330 340 350
NSSSVFQPNP DNHSVNDEKC ILDEQETVLS NEISTLSTSC SHFQHISSNN
360 370 380 390 400
NKDTHKIFGK ELNGNQLMEK RETEGKDSKR NYYSRGHRSI PGVAIDGENN
410 420 430 440 450
MRQSPQTVFS LPANCDWKPR WLRATWGSST EHENRGSPPK GNLKGQFRKG
460 470 480 490 500
TVRTLPPSQG DSQSLDIPNT ADSLGGLSFE PGLVRTCNNP VCPPNHVVSL
510
TNNLIGRRVP TDLQI
Length:515
Mass (Da):58,842
Last modified:July 19, 2004 - v2
Checksum:iEEBF18F9C0AD0C96
GO
Isoform 2 (identifier: P57773-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     441-515: GNLKGQFRKG...GRRVPTDLQI → VPGSKATASS...MGHHSFRGPR

Note: No experimental confirmation available.
Show »
Length:514
Mass (Da):58,950
Checksum:iE9E458D72DD0A584
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_019392497V → I1 PublicationCorresponds to variant dbSNP:rs880303Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_035808441 – 515GNLKG…TDLQI → VPGSKATASSLLLILQRPTS SQPRLKETPKIKAEAKIYDS KHPPQLLQSTVSTFSGREPR SPAPMGHHSFRGPR in isoform 2. 1 PublicationAdd BLAST75

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF179597 Genomic DNA Translation: AAG09406.1
AF271261 mRNA Translation: AAK55516.1
AK123051 mRNA Translation: BAG53864.1
AK312811 mRNA Translation: BAG35669.1
AL139260 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX07289.1
CCDSiCCDS432.1 [P57773-1]
RefSeqiNP_110399.2, NM_030772.4 [P57773-1]
UniGeneiHs.591506

Genome annotation databases

EnsembliENST00000357771; ENSP00000350415; ENSG00000131233 [P57773-1]
ENST00000360786; ENSP00000354020; ENSG00000131233 [P57773-1]
GeneIDi81025
KEGGihsa:81025
UCSCiuc057ezo.1 human [P57773-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCXA9_HUMAN
AccessioniPrimary (citable) accession number: P57773
Secondary accession number(s): B2R722
, B3KVQ2, Q5TA63, Q96KG0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: July 19, 2004
Last modified: March 28, 2018
This is version 136 of the entry and version 2 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
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Main funding by: National Institutes of Health