EMP2_DANRE
ID EMP2_DANRE Reviewed; 161 AA.
AC F1QIK8;
DT 29-OCT-2014, integrated into UniProtKB/Swiss-Prot.
DT 14-MAY-2014, sequence version 2.
DT 03-AUG-2022, entry version 59.
DE RecName: Full=Epithelial membrane protein 2;
DE Short=EMP-2;
GN Name=emp2 {ECO:0000312|ZFIN:ZDB-GENE-040822-24};
GN ORFNames=zgc:100935 {ECO:0000312|ZFIN:ZDB-GENE-040822-24};
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955 {ECO:0000312|Ensembl:ENSDARP00000065494};
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Tuebingen;
RX PubMed=23594743; DOI=10.1038/nature12111;
RA Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT "The zebrafish reference genome sequence and its relationship to the human
RT genome.";
RL Nature 496:498-503(2013).
RN [2]
RP FUNCTION, AND TISSUE SPECIFICITY.
RX PubMed=24814193; DOI=10.1016/j.ajhg.2014.04.010;
RA Gee H.Y., Ashraf S., Wan X., Vega-Warner V., Esteve-Rudd J., Lovric S.,
RA Fang H., Hurd T.W., Sadowski C.E., Allen S.J., Otto E.A., Korkmaz E.,
RA Washburn J., Levy S., Williams D.S., Bakkaloglu S.A., Zolotnitskaya A.,
RA Ozaltin F., Zhou W., Hildebrandt F.;
RT "Mutations in EMP2 cause childhood-onset nephrotic syndrome.";
RL Am. J. Hum. Genet. 94:884-890(2014).
CC -!- FUNCTION: Functions as a key regulator of cell membrane composition by
CC regulating protein surface expression. Also, plays a role in regulation
CC of processes including cell migration, cell proliferation, cell
CC contraction and cell adhesion. May play a role in glomerular filtration
CC (PubMed:24814193). {ECO:0000250|UniProtKB:O88662,
CC ECO:0000250|UniProtKB:P54851, ECO:0000269|PubMed:24814193}.
CC -!- SUBCELLULAR LOCATION: Golgi apparatus membrane
CC {ECO:0000250|UniProtKB:O88662}; Multi-pass membrane protein
CC {ECO:0000255}. Cell membrane {ECO:0000250|UniProtKB:O88662,
CC ECO:0000250|UniProtKB:P54851}. Apical cell membrane
CC {ECO:0000250|UniProtKB:O88662}. Membrane raft
CC {ECO:0000250|UniProtKB:O88662, ECO:0000250|UniProtKB:P54851}. Cytoplasm
CC {ECO:0000250|UniProtKB:O88662, ECO:0000250|UniProtKB:P54851,
CC ECO:0000250|UniProtKB:Q66HH2}. Nucleus {ECO:0000250|UniProtKB:Q66HH2}.
CC Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:O88662}.
CC -!- TISSUE SPECIFICITY: Expressed in the arches, orbits, pectoral fins,
CC vessels, pronephric renal tubules, and glomeruli.
CC {ECO:0000269|PubMed:24814193}.
CC -!- SIMILARITY: Belongs to the PMP-22/EMP/MP20 family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; CR954963; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR RefSeq; XP_017209506.1; XM_017354017.1.
DR AlphaFoldDB; F1QIK8; -.
DR SMR; F1QIK8; -.
DR STRING; 7955.ENSDARP00000065494; -.
DR PaxDb; F1QIK8; -.
DR Ensembl; ENSDART00000065495; ENSDARP00000065494; ENSDARG00000044588.
DR ZFIN; ZDB-GENE-040822-24; emp2.
DR eggNOG; ENOG502RYYE; Eukaryota.
DR GeneTree; ENSGT00950000182696; -.
DR HOGENOM; CLU_138632_0_0_1; -.
DR InParanoid; F1QIK8; -.
DR OMA; ADIWRVC; -.
DR OrthoDB; 1345659at2759; -.
DR TreeFam; TF330414; -.
DR PRO; PR:F1QIK8; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 3.
DR Bgee; ENSDARG00000044588; Expressed in somite and 31 other tissues.
DR GO; GO:0016324; C:apical plasma membrane; ISS:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005794; C:Golgi apparatus; ISS:UniProtKB.
DR GO; GO:0000139; C:Golgi membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0045121; C:membrane raft; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; ISS:UniProtKB.
DR GO; GO:0008284; P:positive regulation of cell population proliferation; ISS:UniProtKB.
DR GO; GO:0003093; P:regulation of glomerular filtration; IMP:UniProtKB.
DR InterPro; IPR003933; EMP-2.
DR InterPro; IPR004031; PMP22/EMP/MP20/Claudin.
DR InterPro; IPR004032; PMP22_EMP_MP20.
DR PANTHER; PTHR10671:SF32; PTHR10671:SF32; 1.
DR Pfam; PF00822; PMP22_Claudin; 1.
DR PRINTS; PR01453; EPMEMFAMILY.
DR PROSITE; PS01221; PMP22_1; 1.
DR PROSITE; PS01222; PMP22_2; 1.
PE 2: Evidence at transcript level;
KW Cell membrane; Cytoplasm; Golgi apparatus; Membrane; Nucleus;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..161
FT /note="Epithelial membrane protein 2"
FT /id="PRO_0000430725"
FT TRANSMEM 1..21
FT /note="Helical; Name=1"
FT /evidence="ECO:0000255"
FT TRANSMEM 67..87
FT /note="Helical; Name=2"
FT /evidence="ECO:0000255"
FT TRANSMEM 95..115
FT /note="Helical; Name=3"
FT /evidence="ECO:0000255"
FT TRANSMEM 137..157
FT /note="Helical; Name=4"
FT /evidence="ECO:0000255"
SQ SEQUENCE 161 AA; 18215 MW; F428EA80EA8F4B8C CRC64;
MLVILAFIIL FHITSAILLF IATINNAWRI KGDFSMDLWY NCNTTACYDI PKSATYDAAY
LQAVQATMIL ATILCCVGFF VFILQLFRLK QGERFVFTAI IQLLSAFCVM TGASIYTAEG
LTFNGQEFKN AEYGYSFVVA WVAFPMTLLS GLMYLVLRKR K
