REEP6_DANRE
ID REEP6_DANRE Reviewed; 208 AA.
AC Q66IF1;
DT 03-SEP-2014, integrated into UniProtKB/Swiss-Prot.
DT 11-OCT-2004, sequence version 1.
DT 03-AUG-2022, entry version 98.
DE RecName: Full=Receptor expression-enhancing protein 6;
GN Name=reep6 {ECO:0000312|Ensembl:ENSDARP00000107799,
GN ECO:0000312|ZFIN:ZDB-GENE-040912-98}; ORFNames=zgc:101529;
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;
RN [1] {ECO:0000312|Ensembl:ENSDARP00000107799}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Tuebingen {ECO:0000312|Ensembl:ENSDARP00000107799};
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:AAH81377.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Eye {ECO:0000312|EMBL:AAH81377.1};
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (APR-2008) to the EMBL/GenBank/DDBJ databases.
RN [3] {ECO:0000305}
RP FUNCTION, AND DISRUPTION PHENOTYPE.
RX PubMed=24691551; DOI=10.1093/hmg/ddu143;
RA Hao H., Veleri S., Sun B., Kim D.S., Keeley P.W., Kim J.W., Yang H.J.,
RA Yadav S.P., Manjunath S.H., Sood R., Liu P., Reese B.E., Swaroop A.;
RT "Regulation of a novel isoform of receptor expression enhancing protein
RT REEP6 in rod photoreceptors by bZIP transcription factor NRL.";
RL Hum. Mol. Genet. 23:4260-4271(2014).
CC -!- FUNCTION: Required correct function and survival of retinal
CC photoreceptors (PubMed:24691551). Required for retinal development (By
CC similarity). In rod photoreceptors, facilitates stability and/or
CC trafficking of guanylate cyclases and is required to maintain
CC endoplasmic reticulum and mitochondrial homeostasis (By similarity).
CC May play a role in clathrin-coated intracellular vesicle trafficking of
CC proteins from the endoplasmic reticulum to the retinal rod plasma
CC membrane (By similarity). {ECO:0000250|UniProtKB:Q9JM62,
CC ECO:0000269|PubMed:24691551}.
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
CC {ECO:0000250|UniProtKB:Q9JM62}; Multi-pass membrane protein
CC {ECO:0000255}. Cytoplasmic vesicle, clathrin-coated vesicle membrane
CC {ECO:0000250|UniProtKB:Q9JM62}; Multi-pass membrane protein
CC {ECO:0000255}.
CC -!- DISRUPTION PHENOTYPE: Morpholino knockdown causes abnormal retinal
CC lamination in the developing eye. {ECO:0000269|PubMed:24691551}.
CC -!- SIMILARITY: Belongs to the DP1 family. {ECO:0000305}.
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DR EMBL; CR678040; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; FP016232; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC081377; AAH81377.1; -; mRNA.
DR EMBL; BC165140; AAI65140.1; -; mRNA.
DR RefSeq; NP_001004656.1; NM_001004656.2.
DR AlphaFoldDB; Q66IF1; -.
DR SMR; Q66IF1; -.
DR STRING; 7955.ENSDARP00000063075; -.
DR PaxDb; Q66IF1; -.
DR Ensembl; ENSDART00000130400; ENSDARP00000107799; ENSDARG00000087349.
DR Ensembl; ENSDART00000153470; ENSDARP00000129289; ENSDARG00000087349.
DR Ensembl; ENSDART00000155427; ENSDARP00000127823; ENSDARG00000087349.
DR GeneID; 447918; -.
DR KEGG; dre:447918; -.
DR CTD; 92840; -.
DR ZFIN; ZDB-GENE-040912-98; reep6.
DR eggNOG; KOG1725; Eukaryota.
DR GeneTree; ENSGT00940000161493; -.
DR InParanoid; Q66IF1; -.
DR OMA; YLGKCCF; -.
DR OrthoDB; 1473891at2759; -.
DR PhylomeDB; Q66IF1; -.
DR TreeFam; TF314913; -.
DR PRO; PR:Q66IF1; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 11.
DR Bgee; ENSDARG00000087349; Expressed in retina and 6 other tissues.
DR ExpressionAtlas; Q66IF1; baseline.
DR GO; GO:0030665; C:clathrin-coated vesicle membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0060059; P:embryonic retina morphogenesis in camera-type eye; IMP:UniProtKB.
DR GO; GO:0010842; P:retina layer formation; IMP:UniProtKB.
DR InterPro; IPR004345; TB2_DP1_HVA22.
DR PANTHER; PTHR12300; PTHR12300; 1.
DR Pfam; PF03134; TB2_DP1_HVA22; 1.
PE 2: Evidence at transcript level;
KW Cytoplasmic vesicle; Developmental protein; Endoplasmic reticulum;
KW Membrane; Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..208
FT /note="Receptor expression-enhancing protein 6"
FT /id="PRO_0000430020"
FT TRANSMEM 49..69
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 93..113
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 115..135
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 187..208
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 208 AA; 23536 MW; 76DFB0B6177CDA42 CRC64;
MFAIFTKIKD RVEAFLNEKN IVTDCLNKIE EKTGIKKRYL AYGAAGVTGA FLLLGYGASL
ICNLIGFVYP AYFSIKAIES PGKEDDTQWL TYWVIYGFFS VGEFFSDIFL HWFPFYYVCK
CLFLLWCMAP VSWNGSQVLY RHVVRPFFLK HEAAVDGMVS NISVKAMSAA ENVTREVLHT
LVRNRTVGPA ESEPRSLPSS AHTEPTVD
