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Gap junction alpha-10 protein (Connexin-57) (Cx57)

 CXA10_MOUSE             Reviewed;         505 AA.
Q9WUS4; A2ANV0;
21-FEB-2001, integrated into UniProtKB/Swiss-Prot.
15-JAN-2008, sequence version 2.
28-MAR-2018, entry version 125.
RecName: Full=Gap junction alpha-10 protein;
AltName: Full=Connexin-57;
Short=Cx57;
Name=Gja10;
Mus musculus (Mouse).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
Muroidea; Muridae; Murinae; Mus; Mus.
NCBI_TaxID=10090;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=10329667; DOI=10.1074/jbc.274.21.14716;
Manthey D., Bukauskas F., Kozak C., Willecke K., Lee C.G.;
"Molecular cloning and functional expression of the mouse gap junction
gene connexin-57 in human HeLa cells.";
J. Biol. Chem. 274:14716-14723(1999).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
STRAIN=C57BL/6J;
PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S.,
She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W.,
Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T.,
Zhou S., Teague B., Potamousis K., Churas C., Place M., Herschleb J.,
Runnheim R., Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z.,
Lindblad-Toh K., Eichler E.E., Ponting C.P.;
"Lineage-specific biology revealed by a finished genome assembly of
the mouse.";
PLoS Biol. 7:E1000112-E1000112(2009).
[3]
NUCLEOTIDE SEQUENCE [MRNA] OF 478-505 (ISOFORM 2), FUNCTION, TISSUE
SPECIFICITY, DEVELOPMENTAL STAGE, AND DISRUPTION PHENOTYPE.
PubMed=15147297; DOI=10.1111/j.0953-816X.2004.03360.x;
Hombach S., Janssen-Bienhold U., Soehl G., Schubert T., Buessow H.,
Ott T., Weiler R., Willecke K.;
"Functional expression of connexin57 in horizontal cells of the mouse
retina.";
Eur. J. Neurosci. 19:2633-2640(2004).
[4]
TISSUE SPECIFICITY.
PubMed=12881038; DOI=10.1080/15419060302063;
Soehl G., Nielsen P.A., Eiberger J., Willecke K.;
"Expression profiles of the novel human connexin genes hCx30.2,
hCx40.1, and hCx62 differ from their putative mouse orthologues.";
Cell Commun. Adhes. 10:27-36(2003).
[5]
FUNCTION, AND DISRUPTION PHENOTYPE.
PubMed=16820008; DOI=10.1111/j.1460-9568.2006.04848.x;
Shelley J., Dedek K., Schubert T., Feigenspan A., Schultz K.,
Hombach S., Willecke K., Weiler R.;
"Horizontal cell receptive fields are reduced in connexin57-deficient
mice.";
Eur. J. Neurosci. 23:3176-3186(2006).
[6]
FUNCTION, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
PubMed=17681699; DOI=10.1016/j.neuroscience.2007.06.003;
Ciolofan C., Lynn B.D., Wellershaus K., Willecke K., Nagy J.I.;
"Spatial relationships of connexin36, connexin57 and zonula occludens-
1 in the outer plexiform layer of mouse retina.";
Neuroscience 148:473-488(2007).
[7]
FUNCTION, AND DISRUPTION PHENOTYPE.
PubMed=18320035; DOI=10.1371/journal.pone.0001714;
Dedek K., Pandarinath C., Alam N.M., Wellershaus K., Schubert T.,
Willecke K., Prusky G.T., Weiler R., Nirenberg S.;
"Ganglion cell adaptability: does the coupling of horizontal cells
play a role?";
PLoS ONE 3:E1714-E1714(2008).
-!- 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.
Involved in tracer coupling between horizontal cells of the
retina. May play a role in the regulation of horizontal cell
patterning. {ECO:0000269|PubMed:15147297,
ECO:0000269|PubMed:16820008, ECO:0000269|PubMed:17681699,
ECO:0000269|PubMed:18320035}.
-!- SUBUNIT: A connexon is composed of a hexamer of connexins.
{ECO:0000250}.
-!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17681699};
Multi-pass membrane protein {ECO:0000269|PubMed:17681699}. Cell
junction, gap junction {ECO:0000269|PubMed:17681699}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=Q9WUS4-1; Sequence=Displayed;
Name=2;
IsoId=Q9WUS4-2; Sequence=VSP_035809;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: Low levels were detected in skin, heart,
kidney, testis, ovary, intestine. Expression not detected in
brain, sciatic nerve or liver. According to PubMed:15147297
expression is detected only in horizontal cells in the inner
nuclear layer of the retina and not in other neurons of the
central nervous system or tissues. Detected in the outer plexiform
layer of the retina (at protein level).
{ECO:0000269|PubMed:12881038, ECO:0000269|PubMed:15147297,
ECO:0000269|PubMed:17681699}.
-!- DEVELOPMENTAL STAGE: Expressed in the retina from E16.5 to P1, in
the thymus from E18.5 to P1, and in kidney from E16.5 to E18.5.
{ECO:0000269|PubMed:15147297}.
-!- DISRUPTION PHENOTYPE: Mice are fertile and show no obvious
anatomical or behavioral abnormalities. In horizontal cells of the
retina tracer coupling is abolished but the spatial tuning of
ganglion cells is unchanged. {ECO:0000269|PubMed:15147297,
ECO:0000269|PubMed:16820008, ECO:0000269|PubMed:18320035}.
-!- SIMILARITY: Belongs to the connexin family. Alpha-type (group II)
subfamily. {ECO:0000305}.
-----------------------------------------------------------------------
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Distributed under the Creative Commons Attribution-NoDerivs License
-----------------------------------------------------------------------
EMBL; AJ010741; CAB40358.1; -; Genomic_DNA.
EMBL; AL831746; CAM26624.1; -; Genomic_DNA.
CCDS; CCDS18015.1; -. [Q9WUS4-1]
RefSeq; NP_034419.2; NM_010289.2. [Q9WUS4-1]
UniGene; Mm.377084; -.
ProteinModelPortal; Q9WUS4; -.
SMR; Q9WUS4; -.
STRING; 10090.ENSMUSP00000061742; -.
PaxDb; Q9WUS4; -.
PRIDE; Q9WUS4; -.
DNASU; 14610; -.
Ensembl; ENSMUST00000056517; ENSMUSP00000061742; ENSMUSG00000051056. [Q9WUS4-1]
Ensembl; ENSMUST00000219644; ENSMUSP00000151323; ENSMUSG00000051056. [Q9WUS4-2]
GeneID; 14610; -.
KEGG; mmu:14610; -.
UCSC; uc008sev.1; mouse. [Q9WUS4-1]
CTD; 84694; -.
MGI; MGI:1339969; Gja10.
eggNOG; ENOG410IGQJ; Eukaryota.
eggNOG; ENOG4110KSA; LUCA.
GeneTree; ENSGT00910000143998; -.
HOGENOM; HOG000231126; -.
HOVERGEN; HBG009576; -.
InParanoid; Q9WUS4; -.
KO; K07631; -.
OMA; GCLLRTY; -.
OrthoDB; EOG091G06LA; -.
PhylomeDB; Q9WUS4; -.
TreeFam; TF329606; -.
Reactome; R-MMU-112303; Electric Transmission Across Gap Junctions.
Reactome; R-MMU-190861; Gap junction assembly.
PRO; PR:Q9WUS4; -.
Proteomes; UP000000589; Chromosome 4.
Bgee; ENSMUSG00000051056; -.
CleanEx; MM_GJA10; -.
Genevisible; Q9WUS4; MM.
GO; GO:0005922; C:connexin complex; IEA:InterPro.
GO; GO:0005921; C:gap junction; IDA:MGI.
GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
GO; GO:0005243; F:gap junction channel activity; IDA:MGI.
GO; GO:0007154; P:cell communication; IEA:InterPro.
GO; GO:0050908; P:detection of light stimulus involved in visual perception; IMP:MGI.
GO; GO:0007276; P:gamete generation; IDA:MGI.
GO; GO:0009416; P:response to light stimulus; IMP:MGI.
GO; GO:0007416; P:synapse assembly; IMP:MGI.
Gene3D; 1.20.1440.80; -; 1.
InterPro; IPR000500; Connexin.
InterPro; IPR019570; Connexin_CCC.
InterPro; IPR017990; Connexin_CS.
InterPro; IPR013092; Connexin_N.
InterPro; IPR038359; Connexin_N_sf.
PANTHER; PTHR11984; PTHR11984; 1.
Pfam; PF00029; Connexin; 1.
PRINTS; PR00206; CONNEXIN.
SMART; SM00037; CNX; 1.
SMART; SM01089; Connexin_CCC; 1.
PROSITE; PS00407; CONNEXINS_1; 1.
PROSITE; PS00408; CONNEXINS_2; 1.
1: Evidence at protein level;
Alternative splicing; Cell junction; Cell membrane; Complete proteome;
Gap junction; Membrane; Reference proteome; Transmembrane;
Transmembrane helix.
CHAIN 1 505 Gap junction alpha-10 protein.
/FTId=PRO_0000057841.
TOPO_DOM 1 16 Cytoplasmic. {ECO:0000255}.
TRANSMEM 17 37 Helical. {ECO:0000255}.
TOPO_DOM 38 76 Extracellular. {ECO:0000255}.
TRANSMEM 77 97 Helical. {ECO:0000255}.
TOPO_DOM 98 165 Cytoplasmic. {ECO:0000255}.
TRANSMEM 166 186 Helical. {ECO:0000255}.
TOPO_DOM 187 209 Extracellular. {ECO:0000255}.
TRANSMEM 210 230 Helical. {ECO:0000255}.
TOPO_DOM 231 505 Cytoplasmic. {ECO:0000255}.
VAR_SEQ 481 505 VSKSSHVDSPPHSSFIIHETYVYVY -> NMLLELSSIMKK
(in isoform 2).
{ECO:0000303|PubMed:15147297}.
/FTId=VSP_035809.
CONFLICT 143 143 R -> K (in Ref. 1; CAB40358).
{ECO:0000305}.
CONFLICT 272 272 I -> V (in Ref. 1; CAB40358).
{ECO:0000305}.
CONFLICT 330 330 A -> T (in Ref. 1; CAB40358).
{ECO:0000305}.
SEQUENCE 505 AA; 57127 MW; F7FAFBA21EDE2A7B CRC64;
MGDWNLLGGI LEEVHSHSTI VGKIWLTILF IFRMLVLGVA AEDVWDDEQS AFACNTQQPG
CNNICYDDAF PISLIRFWVL QIIFVSSPSL VYMGHALYRL RDFEKQRQKK KLYLRAQMEN
PELDLEEQQR VDKELRRLEE QKRIHKVPLK GCLLRTYVLH ILTRSVLEVG FMIGQYILYG
FQMHPIYKCT QAPCPNSVDC FVSRPTEKTI FMLFMHSIAA ISLLLNILEI FHLGIRKIMR
ALDGKSSSGN TENETGPPFH STNYSGTQQC MICSSLPERI SLLQANNKQQ VIRVNIPRSK
SMWQIPHPRQ LEVDVSCGKR DWAEKIESCA QLHVHSPCPH DRSARIQHPG QQPCHSVFGP
KNAMSQSWFG TMTASQHRPS SALETWERSQ GPEASGRSLT DRQSHFQGSD GSARESGVWT
DRLGPGSRKA SFLSRLMSEK GQRHSDSGSS RSLNSSCLDF SHGENSPSPL PSATGHRASM
VSKSSHVDSP PHSSFIIHET YVYVY


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