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P57773 (CXA9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 103. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:GJA9
Synonyms:GJA10
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length515 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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.

Subunit structure

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

Subcellular location

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

Tissue specificity

Highly abundant in skeletal muscle. Also detected in testis. Ref.6

Sequence similarities

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

Ontologies

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P57773-1)

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.
Isoform 2 (identifier: P57773-2)

The sequence of this isoform differs from the canonical sequence as follows:
     441-515: GNLKGQFRKG...GRRVPTDLQI → VPGSKATASS...MGHHSFRGPR
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 515515Gap junction alpha-9 protein
PRO_0000057840

Regions

Topological domain1 – 1919Cytoplasmic Potential
Transmembrane20 – 4021Helical; Potential
Topological domain41 – 7737Extracellular Potential
Transmembrane78 – 9821Helical; Potential
Topological domain99 – 16668Cytoplasmic Potential
Transmembrane167 – 18721Helical; Potential
Topological domain188 – 20922Extracellular Potential
Transmembrane210 – 23021Helical; Potential
Topological domain231 – 515285Cytoplasmic Potential

Natural variations

Alternative sequence441 – 51575GNLKG…TDLQI → VPGSKATASSLLLILQRPTS SQPRLKETPKIKAEAKIYDS KHPPQLLQSTVSTFSGREPR SPAPMGHHSFRGPR in isoform 2.
VSP_035808
Natural variant4971V → I. Ref.1
Corresponds to variant rs880303 [ dbSNP | Ensembl ].
VAR_019392

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 19, 2004. Version 2.
Checksum: EEBF18F9C0AD0C96

FASTA51558,842
        10         20         30         40         50         60 
MGDWNLLGDT LEEVHIHSTM IGKIWLTILF IFRMLVLGVA AEDVWNDEQS GFICNTEQPG 

        70         80         90        100        110        120 
CRNVCYDQAF PISLIRYWVL QVIFVSSPSL VYMGHALYRL RVLEEERQRM KAQLRVELEE 

       130        140        150        160        170        180 
VEFEMPRDRR RLEQELCQLE KRKLNKAPLR GTLLCTYVIH IFTRSVVEVG FMIGQYLLYG 

       190        200        210        220        230        240 
FHLEPLFKCH GHPCPNIIDC FVSRPTEKTI FLLFMQSIAT ISLFLNILEI FHLGFKKIKR 

       250        260        270        280        290        300 
GLWGKYKLKK EHNEFHANKA KQNVAKYQST SANSLKRLPS APDYNLLVEK QTHTAVYPSL 

       310        320        330        340        350        360 
NSSSVFQPNP DNHSVNDEKC ILDEQETVLS NEISTLSTSC SHFQHISSNN NKDTHKIFGK 

       370        380        390        400        410        420 
ELNGNQLMEK RETEGKDSKR NYYSRGHRSI PGVAIDGENN MRQSPQTVFS LPANCDWKPR 

       430        440        450        460        470        480 
WLRATWGSST EHENRGSPPK GNLKGQFRKG TVRTLPPSQG DSQSLDIPNT ADSLGGLSFE 

       490        500        510 
PGLVRTCNNP VCPPNHVVSL TNNLIGRRVP TDLQI 

« Hide

Isoform 2 [UniParc].

Checksum: E9E458D72DD0A584
Show »

FASTA51458,950

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_110399.2. NM_030772.4.
UniGeneHs.591506.

3D structure databases

ProteinModelPortalP57773.
SMRP57773. Positions 3-233.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123346. 2 interactions.

Chemistry

GuidetoPHARMACOLOGY733.

Polymorphism databases

DMDM50403749.

Proteomic databases

PaxDbP57773.
PRIDEP57773.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000357771; ENSP00000350415; ENSG00000131233. [P57773-1]
ENST00000360786; ENSP00000354020; ENSG00000131233. [P57773-1]
GeneID81025.
KEGGhsa:81025.
UCSCuc021olr.1. human. [P57773-1]

Organism-specific databases

CTD81025.
GeneCardsGC01M039339.
HGNCHGNC:19155. GJA9.
MIM611923. gene.
neXtProtNX_P57773.
PharmGKBPA164741587.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG47548.
HOGENOMHOG000231127.
HOVERGENHBG094583.
InParanoidP57773.
KOK07618.
OrthoDBEOG7P2XSS.
PhylomeDBP57773.
TreeFamTF329606.

Enzyme and pathway databases

ReactomeREACT_11123. Membrane Trafficking.

Gene expression databases

BgeeP57773.
CleanExHS_GJA10.
HS_GJA9.
GenevestigatorP57773.

Family and domain databases

InterProIPR000500. Connexin.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERPTHR11984. PTHR11984. 1 hit.
PfamPF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view]
PRINTSPR00206. CONNEXIN.
SMARTSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi81025.
NextBio71344.
PROP57773.
SOURCESearch...

Entry information

Entry nameCXA9_HUMAN
AccessionPrimary (citable) accession number: P57773
Secondary accession number(s): B2R722 expand/collapse secondary AC list , B3KVQ2, Q5TA63, Q96KG0
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: July 19, 2004
Last modified: April 16, 2014
This is version 103 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM