RTBDN_HUMAN
ID RTBDN_HUMAN Reviewed; 229 AA.
AC Q9BSG5; F1T0I8; Q9BWT5;
DT 06-DEC-2005, integrated into UniProtKB/Swiss-Prot.
DT 06-DEC-2005, sequence version 2.
DT 03-AUG-2022, entry version 140.
DE RecName: Full=Retbindin;
DE Flags: Precursor;
GN Name=RTBDN;
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 1).
RC TISSUE=Retina;
RX PubMed=12107411;
RA Wistow G., Berstein S.L., Wyatt M.K., Ray S., Behal A., Touchman J.W.,
RA Bouffard G., Smith D., Peterson K.;
RT "Expressed sequence tag analysis of human retina for the NEIBank project:
RT retbindin, an abundant, novel retinal cDNA and alternative splicing of
RT other retina-preferred gene transcripts.";
RL Mol. Vis. 8:196-204(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Retinoblastoma;
RX PubMed=21697133; DOI=10.1167/iovs.11-7479;
RA Oshikawa M., Tsutsui C., Ikegami T., Fuchida Y., Matsubara M., Toyama S.,
RA Usami R., Ohtoko K., Kato S.;
RT "Full-length transcriptome analysis of human retina-derived cell lines
RT ARPE-19 and Y79 using the vector-capping method.";
RL Invest. Ophthalmol. Vis. Sci. 52:6662-6670(2011).
RN [3]
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 [4]
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 [5]
RP TISSUE SPECIFICITY.
RX PubMed=25542898; DOI=10.1074/jbc.m114.624189;
RA Kelley R.A., Al-Ubaidi M.R., Naash M.I.;
RT "Retbindin is an extracellular riboflavin-binding protein found at the
RT photoreceptor/retinal pigment epithelium interface.";
RL J. Biol. Chem. 290:5041-5052(2015).
CC -!- FUNCTION: Riboflavin-binding protein which might have a role in retinal
CC flavin transport. {ECO:0000250|UniProtKB:Q8QZY4}.
CC -!- SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular
CC matrix, interphotoreceptor matrix {ECO:0000250|UniProtKB:Q8QZY4}. Cell
CC membrane; Peripheral membrane protein {ECO:0000250|UniProtKB:Q8QZY4}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9BSG5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BSG5-2; Sequence=VSP_037666;
CC Name=3;
CC IsoId=Q9BSG5-3; Sequence=VSP_046903;
CC -!- TISSUE SPECIFICITY: Expressed in peripheral retina (at protein level).
CC {ECO:0000269|PubMed:25542898}.
CC -!- PTM: Not N-glycosylated. {ECO:0000250|UniProtKB:Q8QZY4}.
CC -!- SIMILARITY: Belongs to the folate receptor family. {ECO:0000305}.
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DR EMBL; AY028917; AAK26169.1; -; mRNA.
DR EMBL; AB593122; BAJ84062.1; -; mRNA.
DR EMBL; AC020934; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC005063; AAH05063.1; -; mRNA.
DR CCDS; CCDS12283.1; -. [Q9BSG5-2]
DR CCDS; CCDS45994.1; -. [Q9BSG5-1]
DR CCDS; CCDS59355.1; -. [Q9BSG5-1]
DR RefSeq; NP_001074466.1; NM_001080997.2. [Q9BSG5-1]
DR RefSeq; NP_001257370.1; NM_001270441.1. [Q9BSG5-1]
DR RefSeq; NP_001257371.1; NM_001270442.1.
DR RefSeq; NP_001257372.1; NM_001270443.1. [Q9BSG5-1]
DR RefSeq; NP_001257373.1; NM_001270444.1. [Q9BSG5-1]
DR RefSeq; NP_001257374.1; NM_001270445.1.
DR RefSeq; NP_113617.1; NM_031429.2. [Q9BSG5-2]
DR AlphaFoldDB; Q9BSG5; -.
DR SMR; Q9BSG5; -.
DR BioGRID; 123678; 11.
DR IntAct; Q9BSG5; 7.
DR STRING; 9606.ENSP00000326253; -.
DR TCDB; 9.B.92.2.1; the folate receptor (fr) family.
DR iPTMnet; Q9BSG5; -.
DR PhosphoSitePlus; Q9BSG5; -.
DR BioMuta; RTBDN; -.
DR DMDM; 83305682; -.
DR MassIVE; Q9BSG5; -.
DR PaxDb; Q9BSG5; -.
DR PeptideAtlas; Q9BSG5; -.
DR PRIDE; Q9BSG5; -.
DR ProteomicsDB; 78889; -. [Q9BSG5-1]
DR ProteomicsDB; 78890; -. [Q9BSG5-2]
DR Antibodypedia; 65265; 53 antibodies from 14 providers.
DR DNASU; 83546; -.
DR Ensembl; ENST00000322912.9; ENSP00000326253.4; ENSG00000132026.15. [Q9BSG5-2]
DR Ensembl; ENST00000393233.6; ENSP00000376925.3; ENSG00000132026.15. [Q9BSG5-1]
DR Ensembl; ENST00000458671.6; ENSP00000416375.1; ENSG00000132026.15. [Q9BSG5-1]
DR Ensembl; ENST00000592204.5; ENSP00000466765.1; ENSG00000132026.15. [Q9BSG5-3]
DR Ensembl; ENST00000674343.2; ENSP00000501410.1; ENSG00000132026.15. [Q9BSG5-1]
DR GeneID; 83546; -.
DR KEGG; hsa:83546; -.
DR MANE-Select; ENST00000674343.2; ENSP00000501410.1; NM_001270441.2; NP_001257370.2.
DR UCSC; uc002mvi.5; human. [Q9BSG5-1]
DR CTD; 83546; -.
DR DisGeNET; 83546; -.
DR GeneCards; RTBDN; -.
DR HGNC; HGNC:30310; RTBDN.
DR HPA; ENSG00000132026; Tissue enriched (retina).
DR MIM; 609553; gene.
DR neXtProt; NX_Q9BSG5; -.
DR OpenTargets; ENSG00000132026; -.
DR PharmGKB; PA144596387; -.
DR VEuPathDB; HostDB:ENSG00000132026; -.
DR eggNOG; ENOG502RYYP; Eukaryota.
DR GeneTree; ENSGT00950000183144; -.
DR InParanoid; Q9BSG5; -.
DR OMA; MACRGHT; -.
DR OrthoDB; 1534387at2759; -.
DR PhylomeDB; Q9BSG5; -.
DR TreeFam; TF337710; -.
DR PathwayCommons; Q9BSG5; -.
DR SignaLink; Q9BSG5; -.
DR BioGRID-ORCS; 83546; 18 hits in 1070 CRISPR screens.
DR ChiTaRS; RTBDN; human.
DR GenomeRNAi; 83546; -.
DR Pharos; Q9BSG5; Tdark.
DR PRO; PR:Q9BSG5; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q9BSG5; protein.
DR Bgee; ENSG00000132026; Expressed in pituitary gland and 87 other tissues.
DR ExpressionAtlas; Q9BSG5; baseline and differential.
DR Genevisible; Q9BSG5; HS.
DR GO; GO:0031362; C:anchored component of external side of plasma membrane; IBA:GO_Central.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-KW.
DR GO; GO:0019897; C:extrinsic component of plasma membrane; IEA:Ensembl.
DR GO; GO:0033165; C:interphotoreceptor matrix; IEA:UniProtKB-SubCell.
DR GO; GO:1902444; F:riboflavin binding; IBA:GO_Central.
DR GO; GO:0032217; F:riboflavin transmembrane transporter activity; IBA:GO_Central.
DR GO; GO:0038023; F:signaling receptor activity; IBA:GO_Central.
DR InterPro; IPR004269; Folate_rcpt.
DR InterPro; IPR018143; Folate_rcpt-like.
DR PANTHER; PTHR10517; PTHR10517; 1.
DR Pfam; PF03024; Folate_rec; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Disulfide bond; Extracellular matrix;
KW Membrane; Reference proteome; Secreted; Signal.
FT SIGNAL 1..30
FT /evidence="ECO:0000255"
FT CHAIN 31..229
FT /note="Retbindin"
FT /id="PRO_0000043174"
FT REGION 189..229
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 207..229
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT DISULFID 79..149
FT /evidence="ECO:0000250|UniProtKB:P15328"
FT DISULFID 86..126
FT /evidence="ECO:0000250|UniProtKB:P15328"
FT DISULFID 119..163
FT /evidence="ECO:0000250|UniProtKB:P15328"
FT DISULFID 132..145
FT /evidence="ECO:0000250|UniProtKB:P15328"
FT VAR_SEQ 1
FT /note="M -> MDEALETQLKTSRGRFSATESLPTLELLSQVDM (in isoform
FT 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_037666"
FT VAR_SEQ 1
FT /note="M -> MARQLLSQVDM (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:21697133"
FT /id="VSP_046903"
FT VARIANT 198
FT /note="G -> A (in dbSNP:rs13628)"
FT /id="VAR_049053"
SQ SEQUENCE 229 AA; 24615 MW; C049E48426403D52 CRC64;
MDCRVHMRPI GLTWVLQLTL AWILLEACGG SRPLQARSQQ HHGLAADLGK GKLHLAGPCC
PSEMDTTETS GPGNHPERCG VPSPECESFL EHLQRALRSR FRLRLLGVRQ AQPLCEELCQ
AWFANCEDDI TCGPTWLPLS EKRGCEPSCL TYGQTFADGT DLCRSALGHA LPVAAPGARH
CFNISISAVP RPRPGRRGRE APSRRSRSPR TSILDAAGSG SGSGSGSGP
