CXA9_HUMAN
ID CXA9_HUMAN Reviewed; 515 AA.
AC P57773; B2R722; B3KVQ2; Q5TA63; Q96KG0;
DT 21-FEB-2001, integrated into UniProtKB/Swiss-Prot.
DT 19-JUL-2004, sequence version 2.
DT 03-AUG-2022, entry version 159.
DE RecName: Full=Gap junction alpha-9 protein;
DE AltName: Full=Connexin-58;
DE Short=Cx58;
DE AltName: Full=Connexin-59;
DE Short=Cx59;
DE AltName: Full=Gap junction alpha-10 protein;
GN Name=GJA9; Synonyms=GJA10;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT ILE-497.
RA Coucke P.J., Van Laer L., Meyers J., Van Hauwe P., Ottschytsch N.,
RA Wauters G., Kelley P., Willems P.J., Van Camp G.;
RT "Identification of a new connexin gene using degenerate PCR primers.";
RL Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Placenta;
RA Xia J.H., Lu C.Y., He Y.G., Zhang H.L., Deng H.;
RT "Molecular cloning of human CX58.";
RL Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP TISSUE SPECIFICITY.
RX PubMed=12881038; DOI=10.1080/15419060302063;
RA Soehl G., Nielsen P.A., Eiberger J., Willecke K.;
RT "Expression profiles of the novel human connexin genes hCx30.2, hCx40.1,
RT and hCx62 differ from their putative mouse orthologues.";
RL Cell Commun. Adhes. 10:27-36(2003).
CC -!- FUNCTION: One gap junction consists of a cluster of closely packed
CC pairs of transmembrane channels, the connexons, through which materials
CC of low MW diffuse from one cell to a neighboring cell. {ECO:0000250}.
CC -!- SUBUNIT: A connexon is composed of a hexamer of connexins.
CC {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane
CC protein {ECO:0000250}. Cell junction, gap junction {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P57773-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P57773-2; Sequence=VSP_035808;
CC -!- TISSUE SPECIFICITY: Highly abundant in skeletal muscle. Also detected
CC in testis. {ECO:0000269|PubMed:12881038}.
CC -!- SIMILARITY: Belongs to the connexin family. Alpha-type (group II)
CC subfamily. {ECO:0000305}.
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DR EMBL; AF179597; AAG09406.1; -; Genomic_DNA.
DR EMBL; AF271261; AAK55516.1; -; mRNA.
DR EMBL; AK123051; BAG53864.1; -; mRNA.
DR EMBL; AK312811; BAG35669.1; -; mRNA.
DR EMBL; AL139260; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471059; EAX07289.1; -; Genomic_DNA.
DR CCDS; CCDS432.1; -. [P57773-1]
DR RefSeq; NP_110399.2; NM_030772.4. [P57773-1]
DR AlphaFoldDB; P57773; -.
DR SMR; P57773; -.
DR BioGRID; 123346; 1.
DR STRING; 9606.ENSP00000354020; -.
DR BioMuta; GJA9; -.
DR DMDM; 50403749; -.
DR MassIVE; P57773; -.
DR PaxDb; P57773; -.
DR PeptideAtlas; P57773; -.
DR PRIDE; P57773; -.
DR ProteomicsDB; 57035; -. [P57773-1]
DR Antibodypedia; 31839; 156 antibodies from 23 providers.
DR DNASU; 81025; -.
DR Ensembl; ENST00000357771.5; ENSP00000350415.3; ENSG00000131233.10. [P57773-1]
DR Ensembl; ENST00000360786.3; ENSP00000354020.3; ENSG00000131233.10. [P57773-1]
DR GeneID; 81025; -.
DR KEGG; hsa:81025; -.
DR MANE-Select; ENST00000357771.5; ENSP00000350415.3; NM_030772.5; NP_110399.2.
DR UCSC; uc057ezo.1; human. [P57773-1]
DR CTD; 81025; -.
DR DisGeNET; 81025; -.
DR GeneCards; GJA9; -.
DR HGNC; HGNC:19155; GJA9.
DR HPA; ENSG00000131233; Tissue enhanced (brain).
DR MIM; 611923; gene.
DR neXtProt; NX_P57773; -.
DR PharmGKB; PA164741587; -.
DR VEuPathDB; HostDB:ENSG00000131233; -.
DR eggNOG; ENOG502QQPH; Eukaryota.
DR GeneTree; ENSGT01050000244914; -.
DR HOGENOM; CLU_037388_1_1_1; -.
DR InParanoid; P57773; -.
DR OMA; WGQYKLK; -.
DR OrthoDB; 1307900at2759; -.
DR PhylomeDB; P57773; -.
DR TreeFam; TF329606; -.
DR PathwayCommons; P57773; -.
DR Reactome; R-HSA-190861; Gap junction assembly.
DR BioGRID-ORCS; 81025; 9 hits in 1068 CRISPR screens.
DR GenomeRNAi; 81025; -.
DR Pharos; P57773; Tbio.
DR PRO; PR:P57773; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; P57773; protein.
DR Bgee; ENSG00000131233; Expressed in colonic epithelium and 46 other tissues.
DR ExpressionAtlas; P57773; baseline.
DR Genevisible; P57773; HS.
DR GO; GO:0005922; C:connexin complex; IEA:InterPro.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005243; F:gap junction channel activity; IBA:GO_Central.
DR GO; GO:0007267; P:cell-cell signaling; IBA:GO_Central.
DR Gene3D; 1.20.1440.80; -; 1.
DR InterPro; IPR000500; Connexin.
DR InterPro; IPR019570; Connexin_CCC.
DR InterPro; IPR017990; Connexin_CS.
DR InterPro; IPR013092; Connexin_N.
DR InterPro; IPR038359; Connexin_N_sf.
DR PANTHER; PTHR11984; PTHR11984; 1.
DR Pfam; PF00029; Connexin; 1.
DR PRINTS; PR00206; CONNEXIN.
DR SMART; SM00037; CNX; 1.
DR SMART; SM01089; Connexin_CCC; 1.
DR PROSITE; PS00407; CONNEXINS_1; 1.
DR PROSITE; PS00408; CONNEXINS_2; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell junction; Cell membrane; Gap junction; Membrane;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..515
FT /note="Gap junction alpha-9 protein"
FT /id="PRO_0000057840"
FT TOPO_DOM 1..19
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 20..40
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 41..77
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 78..98
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 99..166
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 167..187
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 188..209
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 210..230
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 231..515
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 370..400
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 428..472
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 370..384
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 452..471
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 441..515
FT /note="GNLKGQFRKGTVRTLPPSQGDSQSLDIPNTADSLGGLSFEPGLVRTCNNPVC
FT PPNHVVSLTNNLIGRRVPTDLQI -> VPGSKATASSLLLILQRPTSSQPRLKETPKIK
FT AEAKIYDSKHPPQLLQSTVSTFSGREPRSPAPMGHHSFRGPR (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_035808"
FT VARIANT 497
FT /note="V -> I (in dbSNP:rs880303)"
FT /evidence="ECO:0000269|Ref.1"
FT /id="VAR_019392"
SQ SEQUENCE 515 AA; 58842 MW; EEBF18F9C0AD0C96 CRC64;
MGDWNLLGDT LEEVHIHSTM IGKIWLTILF IFRMLVLGVA AEDVWNDEQS GFICNTEQPG
CRNVCYDQAF PISLIRYWVL QVIFVSSPSL VYMGHALYRL RVLEEERQRM KAQLRVELEE
VEFEMPRDRR RLEQELCQLE KRKLNKAPLR GTLLCTYVIH IFTRSVVEVG FMIGQYLLYG
FHLEPLFKCH GHPCPNIIDC FVSRPTEKTI FLLFMQSIAT ISLFLNILEI FHLGFKKIKR
GLWGKYKLKK EHNEFHANKA KQNVAKYQST SANSLKRLPS APDYNLLVEK QTHTAVYPSL
NSSSVFQPNP DNHSVNDEKC ILDEQETVLS NEISTLSTSC SHFQHISSNN NKDTHKIFGK
ELNGNQLMEK RETEGKDSKR NYYSRGHRSI PGVAIDGENN MRQSPQTVFS LPANCDWKPR
WLRATWGSST EHENRGSPPK GNLKGQFRKG TVRTLPPSQG DSQSLDIPNT ADSLGGLSFE
PGLVRTCNNP VCPPNHVVSL TNNLIGRRVP TDLQI
