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Protein

Gap junction alpha-9 protein

Gene

GJA9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-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

  1. cell communication Source: InterPro
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_9509. 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
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:19155. GJA9.

Subcellular locationi

Cell membrane By similarity; Multi-pass membrane protein By similarity. Cell junctiongap junction By similarity

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1919CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei20 – 4021HelicalSequence AnalysisAdd
BLAST
Topological domaini41 – 7737ExtracellularSequence AnalysisAdd
BLAST
Transmembranei78 – 9821HelicalSequence AnalysisAdd
BLAST
Topological domaini99 – 16668CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei167 – 18721HelicalSequence AnalysisAdd
BLAST
Topological domaini188 – 20922ExtracellularSequence AnalysisAdd
BLAST
Transmembranei210 – 23021HelicalSequence AnalysisAdd
BLAST
Topological domaini231 – 515285CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. connexon complex Source: InterPro
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA164741587.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 515515Gap junction alpha-9 proteinPRO_0000057840Add
BLAST

Proteomic databases

PaxDbiP57773.
PRIDEiP57773.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiP57773.
CleanExiHS_GJA10.
HS_GJA9.
GenevestigatoriP57773.

Organism-specific databases

HPAiHPA067850.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi123346. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliP57773.
SMRiP57773. Positions 3-233.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG47548.
GeneTreeiENSGT00760000118780.
HOGENOMiHOG000231127.
HOVERGENiHBG094583.
InParanoidiP57773.
KOiK07618.
OrthoDBiEOG7P2XSS.
PhylomeDBiP57773.
TreeFamiTF329606.

Family and domain databases

InterProiIPR000500. Connexin.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 1 hit.
PfamiPF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
SMARTiSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEiPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti497 – 4971V → I.1 Publication
Corresponds to variant rs880303 [ dbSNP | Ensembl ].
VAR_019392

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei441 – 51575GNLKG…TDLQI → VPGSKATASSLLLILQRPTS SQPRLKETPKIKAEAKIYDS KHPPQLLQSTVSTFSGREPR SPAPMGHHSFRGPR in isoform 2. 1 PublicationVSP_035808Add
BLAST

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. Translation: CAI23051.1.
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.
UCSCiuc021olr.1. human. [P57773-1]

Polymorphism databases

DMDMi50403749.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

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. Translation: CAI23051.1.
CH471059 Genomic DNA. Translation: EAX07289.1.
CCDSiCCDS432.1. [P57773-1]
RefSeqiNP_110399.2. NM_030772.4. [P57773-1]
UniGeneiHs.591506.

3D structure databases

ProteinModelPortaliP57773.
SMRiP57773. Positions 3-233.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123346. 1 interaction.

Chemistry

GuidetoPHARMACOLOGYi733.

Polymorphism databases

DMDMi50403749.

Proteomic databases

PaxDbiP57773.
PRIDEiP57773.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000357771; ENSP00000350415; ENSG00000131233. [P57773-1]
ENST00000360786; ENSP00000354020; ENSG00000131233. [P57773-1]
GeneIDi81025.
KEGGihsa:81025.
UCSCiuc021olr.1. human. [P57773-1]

Organism-specific databases

CTDi81025.
GeneCardsiGC01M039339.
HGNCiHGNC:19155. GJA9.
HPAiHPA067850.
MIMi611923. gene.
neXtProtiNX_P57773.
PharmGKBiPA164741587.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG47548.
GeneTreeiENSGT00760000118780.
HOGENOMiHOG000231127.
HOVERGENiHBG094583.
InParanoidiP57773.
KOiK07618.
OrthoDBiEOG7P2XSS.
PhylomeDBiP57773.
TreeFamiTF329606.

Enzyme and pathway databases

ReactomeiREACT_9509. Gap junction assembly.

Miscellaneous databases

GenomeRNAii81025.
NextBioi71344.
PROiP57773.
SOURCEiSearch...

Gene expression databases

BgeeiP57773.
CleanExiHS_GJA10.
HS_GJA9.
GenevestigatoriP57773.

Family and domain databases

InterProiIPR000500. Connexin.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 1 hit.
PfamiPF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
SMARTiSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEiPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of a new connexin gene using degenerate PCR primers."
    Coucke P.J., Van Laer L., Meyers J., Van Hauwe P., Ottschytsch N., Wauters G., Kelley P., Willems P.J., Van Camp G.
    Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ILE-497.
  2. "Molecular cloning of human CX58."
    Xia J.H., Lu C.Y., He Y.G., Zhang H.L., Deng H.
    Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Placenta.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Testis.
  4. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues."
    Soehl G., Nielsen P.A., Eiberger J., Willecke K.
    Cell Commun. Adhes. 10:27-36(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.

Entry informationi

Entry nameiCXA9_HUMAN
AccessioniPrimary (citable) accession number: P57773
Secondary accession number(s): B2R722
, B3KVQ2, Q5TA63, Q96KG0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: July 19, 2004
Last modified: March 4, 2015
This is version 110 of the entry and version 2 of the sequence. [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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.