REEP5_DANRE
ID REEP5_DANRE Reviewed; 189 AA.
AC Q6PBX9;
DT 23-FEB-2022, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 107.
DE RecName: Full=Receptor expression-enhancing protein 5 {ECO:0000305};
GN Name=reep5 {ECO:0000312|ZFIN:ZDB-GENE-030131-9181};
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|EMBL:AAH59545.1};
RN [1] {ECO:0000312|Proteomes:UP000000437}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Tuebingen {ECO:0000312|Proteomes:UP000000437};
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] {ECO:0000312|EMBL:AAH59545.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Eye {ECO:0000312|EMBL:AAH59545.1};
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases.
RN [3] {ECO:0000305}
RP FUNCTION, DEVELOPMENTAL STAGE, AND DISRUPTION PHENOTYPE.
RX PubMed=32075961; DOI=10.1038/s41467-019-14143-9;
RA Lee S.H., Hadipour-Lakmehsari S., Murthy H.R., Gibb N., Miyake T.,
RA Teng A.C.T., Cosme J., Yu J.C., Moon M., Lim S., Wong V., Liu P.,
RA Billia F., Fernandez-Gonzalez R., Stagljar I., Sharma P., Kislinger T.,
RA Scott I.C., Gramolini A.O.;
RT "REEP5 depletion causes sarco-endoplasmic reticulum vacuolization and
RT cardiac functional defects.";
RL Nat. Commun. 11:965-965(2020).
CC -!- FUNCTION: Plays an essential role in heart function and development by
CC regulating the organization and function of the sarcoplasmic reticulum
CC in cardiomyocytes. {ECO:0000269|PubMed:32075961}.
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
CC {ECO:0000250|UniProtKB:Q60870}; Multi-pass membrane protein
CC {ECO:0000255}. Sarcoplasmic reticulum membrane
CC {ECO:0000250|UniProtKB:Q60870}; Multi-pass membrane protein
CC {ECO:0000255}.
CC -!- DEVELOPMENTAL STAGE: Expressed in embryos 48 to 96 hours post-
CC fertilization (at protein level) (PubMed:32075961). Expressed in both
CC ventricular and atrial cardiomyocytes (at protein level)
CC (PubMed:32075961). {ECO:0000269|PubMed:32075961}.
CC -!- DOMAIN: The short lumenal loops between transmembrane domains 1 and 2
CC and between transmembrane domains 3 and 4 may impart a wedge-like
CC configuration, thus deforming membranes.
CC {ECO:0000250|UniProtKB:Q00765}.
CC -!- DISRUPTION PHENOTYPE: 60% of embryos die 7 days post-fertilization
CC (PubMed:32075961). Embryos have cardiac developmental defects including
CC a lack of cardiac looping and atrio-ventricular conduction defects with
CC dysynchronous beating rhythms (PubMed:32075961). Increase in RTN4
CC protein expression levels (PubMed:32075961). Morpholino knockdown
CC causes apparent sarcoplasmic reticulum membrane vacuolization in
CC ventricular tissue along with structural discontinuity between
CC sarcomeres (PubMed:32075961). {ECO:0000269|PubMed:32075961}.
CC -!- SIMILARITY: Belongs to the DP1 family. {ECO:0000255|RuleBase:RU362006}.
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DR EMBL; BX005434; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC059545; AAH59545.1; -; mRNA.
DR RefSeq; NP_956352.1; NM_200058.1.
DR AlphaFoldDB; Q6PBX9; -.
DR STRING; 7955.ENSDARP00000069043; -.
DR PaxDb; Q6PBX9; -.
DR Ensembl; ENSDART00000164770; ENSDARP00000137299; ENSDARG00000100742.
DR GeneID; 337237; -.
DR KEGG; dre:337237; -.
DR CTD; 7905; -.
DR ZFIN; ZDB-GENE-030131-9181; reep5.
DR eggNOG; KOG1725; Eukaryota.
DR GeneTree; ENSGT00940000157873; -.
DR HOGENOM; CLU_028431_2_0_1; -.
DR InParanoid; Q6PBX9; -.
DR OMA; FILVLWM; -.
DR OrthoDB; 1473891at2759; -.
DR PhylomeDB; Q6PBX9; -.
DR TreeFam; TF314913; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 10.
DR Bgee; ENSDARG00000100742; Expressed in zone of skin and 45 other tissues.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0033017; C:sarcoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0090158; P:endoplasmic reticulum membrane organization; IMP:UniProtKB.
DR InterPro; IPR004345; TB2_DP1_HVA22.
DR PANTHER; PTHR12300; PTHR12300; 1.
DR Pfam; PF03134; TB2_DP1_HVA22; 1.
PE 1: Evidence at protein level;
KW Endoplasmic reticulum; Membrane; Reference proteome;
KW Sarcoplasmic reticulum; Transmembrane; Transmembrane helix.
FT CHAIN 1..189
FT /note="Receptor expression-enhancing protein 5"
FT /id="PRO_0000454705"
FT TOPO_DOM 1..34
FT /note="Cytoplasmic"
FT /evidence="ECO:0000250|UniProtKB:Q00765"
FT TRANSMEM 35..51
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 52..57
FT /note="Lumenal"
FT /evidence="ECO:0000305"
FT TRANSMEM 58..75
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 76..94
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 95..115
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 116..117
FT /note="Lumenal"
FT /evidence="ECO:0000305"
FT TRANSMEM 118..138
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 139..189
FT /note="Cytoplasmic"
FT /evidence="ECO:0000250|UniProtKB:Q00765"
FT REGION 114..185
FT /note="Required for dimerization and maintaining
FT endoplasmic reticulum morphology"
FT /evidence="ECO:0000250|UniProtKB:Q00765"
SQ SEQUENCE 189 AA; 21407 MW; 377F699D5D779120 CRC64;
MAAALKQRFD NALHEKNMVT DLLAKIEAKT GVNRSYIAYA VIAFIAIYLV IGYGASLLCN
LIGFVYPAYI SIKAIESPAK DDDTKWLTYW VVYGVFSVVE FFADIFLSWF PFYFLAKCAF
LVWCMAPTPS NGSIMLYTRI IRPFFLKNEA KIDNVMKDLT DKAAGAADKI KDEAKKATAN
IMFEEKKHY
