REEP6_HUMAN
ID REEP6_HUMAN Reviewed; 211 AA.
AC Q96HR9; A0A1L5BXV3; B2RE01; D6W5Z0; Q96LM0;
DT 20-DEC-2005, integrated into UniProtKB/Swiss-Prot.
DT 12-APR-2017, sequence version 2.
DT 03-AUG-2022, entry version 151.
DE RecName: Full=Receptor expression-enhancing protein 6;
DE AltName: Full=Polyposis locus protein 1-like 1;
GN Name=REEP6; Synonyms=C19orf32, DP1L1;
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 [MRNA] (ISOFORM 2).
RX PubMed=15550249; DOI=10.1016/j.cell.2004.11.021;
RA Saito H., Kubota M., Roberts R.W., Chi Q., Matsunami H.;
RT "RTP family members induce functional expression of mammalian odorant
RT receptors.";
RL Cell 119:679-691(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION,
RP TISSUE SPECIFICITY (ISOFORM 1), INVOLVEMENT IN RP77, VARIANTS RP77 LEU-128
RP AND PRO-135, AND CHARACTERIZATION OF VARIANTS RP77 LEU-128 AND PRO-135.
RX PubMed=27889058; DOI=10.1016/j.ajhg.2016.10.008;
RG UKIRDC;
RA Arno G., Agrawal S.A., Eblimit A., Bellingham J., Xu M., Wang F.,
RA Chakarova C., Parfitt D.A., Lane A., Burgoyne T., Hull S., Carss K.J.,
RA Fiorentino A., Hayes M.J., Munro P.M., Nicols R., Pontikos N., Holder G.E.,
RA Asomugha C., Raymond F.L., Moore A.T., Plagnol V., Michaelides M.,
RA Hardcastle A.J., Li Y., Cukras C., Webster A.R., Cheetham M.E., Chen R.;
RT "Mutations in REEP6 cause autosomal-recessive retinitis pigmentosa.";
RL Am. J. Hum. Genet. 99:1305-1315(2016).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Liver, and 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=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Eye;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP TISSUE SPECIFICITY.
RX PubMed=16720576; DOI=10.1074/jbc.m513637200;
RA Behrens M., Bartelt J., Reichling C., Winnig M., Kuhn C., Meyerhof W.;
RT "Members of RTP and REEP gene families influence functional bitter taste
RT receptor expression.";
RL J. Biol. Chem. 281:20650-20659(2006).
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [9]
RP SUBCELLULAR LOCATION.
RX PubMed=24098485; DOI=10.1371/journal.pone.0076366;
RA Bjork S., Hurt C.M., Ho V.K., Angelotti T.;
RT "REEPs are membrane shaping adapter proteins that modulate specific G
RT protein-coupled receptor trafficking by affecting ER cargo capacity.";
RL PLoS ONE 8:E76366-E76366(2013).
RN [10]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
RN [11]
RP VARIANT RP77 LYS-75.
RX PubMed=28369466; DOI=10.1093/hmg/ddx111;
RA Veleri S., Nellissery J., Mishra B., Manjunath S.H., Brooks M.J., Dong L.,
RA Nagashima K., Qian H., Gao C., Sergeev Y.V., Huang X.F., Qu J., Lu F.,
RA Cideciyan A.V., Li T., Jin Z.B., Fariss R.N., Ratnapriya R., Jacobson S.G.,
RA Swaroop A.;
RT "REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is
RT critical for rod photoreceptor function and survival.";
RL Hum. Mol. Genet. 26:2218-2230(2017).
RN [12]
RP VARIANT RP77 89-TRP--LYS-211 DEL.
RX PubMed=29120066; DOI=10.1111/cge.13171;
RA Mejecase C., Mohand-Said S., El Shamieh S., Antonio A., Condroyer C.,
RA Blanchard S., Letexier M., Saraiva J.P., Sahel J.A., Audo I., Zeitz C.;
RT "A novel nonsense variant in REEP6 is involved in a sporadic rod-cone
RT dystrophy case.";
RL Clin. Genet. 93:707-711(2018).
CC -!- FUNCTION: Required for correct function and survival of retinal
CC photoreceptors (PubMed:27889058). 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:27889058}.
CC -!- SUBUNIT: Interacts with STX3 (By similarity). Interacts with clathrin
CC (By similarity). {ECO:0000250|UniProtKB:Q9JM62}.
CC -!- INTERACTION:
CC Q96HR9; Q8NI60: COQ8A; NbExp=9; IntAct=EBI-750345, EBI-745535;
CC Q96HR9; Q8N612: FHIP1B; NbExp=4; IntAct=EBI-750345, EBI-742137;
CC Q96HR9; Q6NT76: HMBOX1; NbExp=3; IntAct=EBI-750345, EBI-2549423;
CC Q96HR9; Q6NT76-2: HMBOX1; NbExp=3; IntAct=EBI-750345, EBI-10212206;
CC Q96HR9; Q99732: LITAF; NbExp=8; IntAct=EBI-750345, EBI-725647;
CC Q96HR9; Q6IQ43: PTPN9; NbExp=3; IntAct=EBI-750345, EBI-10250413;
CC Q96HR9; O00560: SDCBP; NbExp=3; IntAct=EBI-750345, EBI-727004;
CC Q96HR9; Q13596: SNX1; NbExp=4; IntAct=EBI-750345, EBI-2822329;
CC Q96HR9; Q9NRS6: SNX15; NbExp=5; IntAct=EBI-750345, EBI-725924;
CC Q96HR9; Q9NZD8: SPG21; NbExp=4; IntAct=EBI-750345, EBI-742688;
CC Q96HR9; Q63HR2: TNS2; NbExp=3; IntAct=EBI-750345, EBI-949753;
CC Q96HR9; Q99757: TXN2; NbExp=3; IntAct=EBI-750345, EBI-2932492;
CC Q96HR9; Q9BQ24: ZFYVE21; NbExp=3; IntAct=EBI-750345, EBI-2849569;
CC Q96HR9; P0DTC6: 6; Xeno; NbExp=3; IntAct=EBI-750345, EBI-25475897;
CC Q96HR9-2; Q15041: ARL6IP1; NbExp=3; IntAct=EBI-14065960, EBI-714543;
CC Q96HR9-2; P18859: ATP5PF; NbExp=3; IntAct=EBI-14065960, EBI-2606700;
CC Q96HR9-2; P06307: CCK; NbExp=3; IntAct=EBI-14065960, EBI-6624398;
CC Q96HR9-2; P11912: CD79A; NbExp=3; IntAct=EBI-14065960, EBI-7797864;
CC Q96HR9-2; Q16543: CDC37; NbExp=3; IntAct=EBI-14065960, EBI-295634;
CC Q96HR9-2; Q9Y5P4-2: CERT1; NbExp=3; IntAct=EBI-14065960, EBI-11156432;
CC Q96HR9-2; Q8NI60: COQ8A; NbExp=3; IntAct=EBI-14065960, EBI-745535;
CC Q96HR9-2; P49447: CYB561; NbExp=3; IntAct=EBI-14065960, EBI-8646596;
CC Q96HR9-2; O00559: EBAG9; NbExp=3; IntAct=EBI-14065960, EBI-8787095;
CC Q96HR9-2; Q08426: EHHADH; NbExp=3; IntAct=EBI-14065960, EBI-2339219;
CC Q96HR9-2; P48165: GJA8; NbExp=3; IntAct=EBI-14065960, EBI-17458373;
CC Q96HR9-2; Q8TDT2: GPR152; NbExp=3; IntAct=EBI-14065960, EBI-13345167;
CC Q96HR9-2; Q7Z5P4: HSD17B13; NbExp=3; IntAct=EBI-14065960, EBI-18053395;
CC Q96HR9-2; Q9BYR8: KRTAP3-1; NbExp=3; IntAct=EBI-14065960, EBI-9996449;
CC Q96HR9-2; P13473-2: LAMP2; NbExp=3; IntAct=EBI-14065960, EBI-21591415;
CC Q96HR9-2; O95214: LEPROTL1; NbExp=3; IntAct=EBI-14065960, EBI-750776;
CC Q96HR9-2; Q99732: LITAF; NbExp=3; IntAct=EBI-14065960, EBI-725647;
CC Q96HR9-2; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-14065960, EBI-739832;
CC Q96HR9-2; Q9NQG6: MIEF1; NbExp=3; IntAct=EBI-14065960, EBI-740987;
CC Q96HR9-2; Q96C03-3: MIEF2; NbExp=3; IntAct=EBI-14065960, EBI-11988931;
CC Q96HR9-2; Q9HB07: MYG1; NbExp=3; IntAct=EBI-14065960, EBI-709754;
CC Q96HR9-2; Q9ULP0-2: NDRG4; NbExp=7; IntAct=EBI-14065960, EBI-11978907;
CC Q96HR9-2; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-14065960, EBI-741158;
CC Q96HR9-2; Q01968-2: OCRL; NbExp=3; IntAct=EBI-14065960, EBI-11749425;
CC Q96HR9-2; Q9NRD5: PICK1; NbExp=3; IntAct=EBI-14065960, EBI-79165;
CC Q96HR9-2; P43378: PTPN9; NbExp=3; IntAct=EBI-14065960, EBI-742898;
CC Q96HR9-2; Q86VR2: RETREG3; NbExp=3; IntAct=EBI-14065960, EBI-10192441;
CC Q96HR9-2; O00560: SDCBP; NbExp=3; IntAct=EBI-14065960, EBI-727004;
CC Q96HR9-2; Q9Y371: SH3GLB1; NbExp=3; IntAct=EBI-14065960, EBI-2623095;
CC Q96HR9-2; Q8IWU4: SLC30A8; NbExp=3; IntAct=EBI-14065960, EBI-10262251;
CC Q96HR9-2; Q13596: SNX1; NbExp=3; IntAct=EBI-14065960, EBI-2822329;
CC Q96HR9-2; Q9Y5W9: SNX11; NbExp=3; IntAct=EBI-14065960, EBI-10329449;
CC Q96HR9-2; Q9UMY4-1: SNX12; NbExp=3; IntAct=EBI-14065960, EBI-22419305;
CC Q96HR9-2; Q9NRS6: SNX15; NbExp=3; IntAct=EBI-14065960, EBI-725924;
CC Q96HR9-2; Q9Y5X2: SNX8; NbExp=3; IntAct=EBI-14065960, EBI-1752557;
CC Q96HR9-2; Q9NZD8: SPG21; NbExp=3; IntAct=EBI-14065960, EBI-742688;
CC Q96HR9-2; Q86WV6: STING1; NbExp=3; IntAct=EBI-14065960, EBI-2800345;
CC Q96HR9-2; Q17RD7: SYT16; NbExp=3; IntAct=EBI-14065960, EBI-10238936;
CC Q96HR9-2; Q96MV1: TLCD4; NbExp=3; IntAct=EBI-14065960, EBI-12947623;
CC Q96HR9-2; Q6PL24: TMED8; NbExp=3; IntAct=EBI-14065960, EBI-11603430;
CC Q96HR9-2; Q96AN5: TMEM143; NbExp=3; IntAct=EBI-14065960, EBI-13342951;
CC Q96HR9-2; Q6ZT21: TMPPE; NbExp=3; IntAct=EBI-14065960, EBI-11724433;
CC Q96HR9-2; Q99757: TXN2; NbExp=3; IntAct=EBI-14065960, EBI-2932492;
CC Q96HR9-2; Q9Y4P8-4: WIPI2; NbExp=3; IntAct=EBI-14065960, EBI-12205107;
CC Q96HR9-2; Q9BQ24: ZFYVE21; NbExp=3; IntAct=EBI-14065960, EBI-2849569;
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
CC {ECO:0000269|PubMed:24098485, ECO:0000269|PubMed:27889058}; Multi-pass
CC membrane protein {ECO:0000255}. Cytoplasmic vesicle, clathrin-coated
CC vesicle membrane {ECO:0000250|UniProtKB:Q9JM62}; Multi-pass membrane
CC protein {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96HR9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96HR9-2; Sequence=VSP_058885;
CC -!- TISSUE SPECIFICITY: Expressed in circumvallate papillae and testis
CC (PubMed:16720576). Expressed in the retina. Isoform 1 is predominantly
CC present in mature optic cups. Isoform 1 expression is confined to the
CC cell body and inner segment of developing rod photoreceptor cells
CC (PubMed:27889058). {ECO:0000269|PubMed:16720576,
CC ECO:0000269|PubMed:27889058}.
CC -!- DISEASE: Retinitis pigmentosa 77 (RP77) [MIM:617304]: A form of
CC retinitis pigmentosa, a retinal dystrophy belonging to the group of
CC pigmentary retinopathies. Retinitis pigmentosa is characterized by
CC retinal pigment deposits visible on fundus examination and primary loss
CC of rod photoreceptor cells followed by secondary loss of cone
CC photoreceptors. Patients typically have night vision blindness and loss
CC of midperipheral visual field. As their condition progresses, they lose
CC their far peripheral visual field and eventually central vision as
CC well. RP77 inheritance is autosomal recessive.
CC {ECO:0000269|PubMed:27889058, ECO:0000269|PubMed:28369466,
CC ECO:0000269|PubMed:29120066}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the DP1 family. {ECO:0000305}.
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DR EMBL; AY562244; AAT70689.1; -; mRNA.
DR EMBL; KX268612; APL98237.1; -; mRNA.
DR EMBL; AK058112; BAB71670.1; -; mRNA.
DR EMBL; AK315744; BAG38098.1; -; mRNA.
DR EMBL; AC027307; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471139; EAW69491.1; -; Genomic_DNA.
DR EMBL; CH471139; EAW69492.1; -; Genomic_DNA.
DR EMBL; CH471139; EAW69493.1; -; Genomic_DNA.
DR EMBL; BC008201; AAH08201.1; -; mRNA.
DR CCDS; CCDS12070.1; -. [Q96HR9-2]
DR RefSeq; NP_001316485.1; NM_001329556.1. [Q96HR9-1]
DR RefSeq; NP_612402.1; NM_138393.2. [Q96HR9-2]
DR AlphaFoldDB; Q96HR9; -.
DR BioGRID; 124983; 123.
DR IntAct; Q96HR9; 73.
DR MINT; Q96HR9; -.
DR iPTMnet; Q96HR9; -.
DR PhosphoSitePlus; Q96HR9; -.
DR SwissPalm; Q96HR9; -.
DR BioMuta; REEP6; -.
DR DMDM; 74762661; -.
DR EPD; Q96HR9; -.
DR jPOST; Q96HR9; -.
DR MassIVE; Q96HR9; -.
DR MaxQB; Q96HR9; -.
DR PaxDb; Q96HR9; -.
DR PeptideAtlas; Q96HR9; -.
DR PRIDE; Q96HR9; -.
DR ProteomicsDB; 76780; -.
DR Antibodypedia; 10563; 46 antibodies from 15 providers.
DR DNASU; 92840; -.
DR Ensembl; ENST00000233596.8; ENSP00000233596.2; ENSG00000115255.12. [Q96HR9-2]
DR Ensembl; ENST00000395479.10; ENSP00000378861.5; ENSG00000115255.12. [Q96HR9-1]
DR GeneID; 92840; -.
DR KEGG; hsa:92840; -.
DR MANE-Select; ENST00000233596.8; ENSP00000233596.2; NM_138393.4; NP_612402.1. [Q96HR9-2]
DR UCSC; uc002ltc.4; human. [Q96HR9-1]
DR CTD; 92840; -.
DR DisGeNET; 92840; -.
DR GeneCards; REEP6; -.
DR HGNC; HGNC:30078; REEP6.
DR HPA; ENSG00000115255; Tissue enhanced (intestine, liver, testis).
DR MalaCards; REEP6; -.
DR MIM; 609346; gene.
DR MIM; 617304; phenotype.
DR neXtProt; NX_Q96HR9; -.
DR OpenTargets; ENSG00000115255; -.
DR Orphanet; 791; Retinitis pigmentosa.
DR PharmGKB; PA134892881; -.
DR VEuPathDB; HostDB:ENSG00000115255; -.
DR GeneTree; ENSGT00940000161493; -.
DR HOGENOM; CLU_028431_2_0_1; -.
DR InParanoid; Q96HR9; -.
DR OMA; WIPFYFF; -.
DR OrthoDB; 1473891at2759; -.
DR PhylomeDB; Q96HR9; -.
DR TreeFam; TF314913; -.
DR PathwayCommons; Q96HR9; -.
DR SignaLink; Q96HR9; -.
DR BioGRID-ORCS; 92840; 15 hits in 1079 CRISPR screens.
DR GenomeRNAi; 92840; -.
DR Pharos; Q96HR9; Tbio.
DR PRO; PR:Q96HR9; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q96HR9; protein.
DR Bgee; ENSG00000115255; Expressed in right testis and 114 other tissues.
DR ExpressionAtlas; Q96HR9; baseline and differential.
DR Genevisible; Q96HR9; HS.
DR GO; GO:0030665; C:clathrin-coated vesicle membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:UniProtKB.
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:0005634; C:nucleus; HDA:UniProtKB.
DR GO; GO:0001917; C:photoreceptor inner segment; IDA:UniProtKB.
DR GO; GO:0050908; P:detection of light stimulus involved in visual perception; IMP:UniProtKB.
DR GO; GO:0007029; P:endoplasmic reticulum organization; ISS:FlyBase.
DR GO; GO:0032386; P:regulation of intracellular transport; ISS:FlyBase.
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 Alternative splicing; Cytoplasmic vesicle; Disease variant;
KW Endoplasmic reticulum; Membrane; Reference proteome; Retinitis pigmentosa;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..211
FT /note="Receptor expression-enhancing protein 6"
FT /id="PRO_0000101818"
FT TRANSMEM 44..64
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 89..109
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 190..211
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 174..200
FT /note="Missing (in isoform 2)"
FT /id="VSP_058885"
FT VARIANT 75
FT /note="E -> K (in RP77; dbSNP:rs144942685)"
FT /evidence="ECO:0000269|PubMed:28369466"
FT /id="VAR_081396"
FT VARIANT 89..211
FT /note="Missing (in RP77; unknown pathological significance;
FT dbSNP:rs761786834)"
FT /evidence="ECO:0000269|PubMed:29120066"
FT /id="VAR_081397"
FT VARIANT 128
FT /note="P -> L (in RP77; decreased protein levels; does not
FT affect localization to endoplasmic reticulum;
FT dbSNP:rs1057519317)"
FT /evidence="ECO:0000269|PubMed:27889058"
FT /id="VAR_077931"
FT VARIANT 135
FT /note="L -> P (in RP77; decreased protein levels; does not
FT affect localization to endoplasmic reticulum; loss of rod
FT photoreceptor function shown by a mouse knockin model of
FT the mutation; dbSNP:rs1057519316)"
FT /evidence="ECO:0000269|PubMed:27889058"
FT /id="VAR_077932"
FT VARIANT 150
FT /note="A -> D (in dbSNP:rs2271412)"
FT /id="VAR_048927"
FT CONFLICT 42
FT /note="T -> A (in Ref. 3; BAB71670)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 211 AA; 23418 MW; CB45B084E8A584C9 CRC64;
MDGLRQRVEH FLEQRNLVTE VLGALEAKTG VEKRYLAAGA VTLLSLYLLF GYGASLLCNL
IGFVYPAYAS IKAIESPSKD DDTVWLTYWV VYALFGLAEF FSDLLLSWFP FYYVGKCAFL
LFCMAPRPWN GALMLYQRVV RPLFLRHHGA VDRIMNDLSG RALDAAAGIT RNVLQVLARS
RAGITPVAVA GPSTPLEADL KPSQTPQPKD K
