LOCUS       NM_002900               4290 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens retinol binding protein 3 (RBP3), mRNA.
ACCESSION   NM_002900
VERSION     NM_002900.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4290)
  AUTHORS   Georgiou,M., Fujinami,K., Robson,A.G., Fujinami-Yokokawa,Y.,
            Shakarchi,A.F., Ji,M.H., Uwaydat,S.H., Kim,A., Kolesnikova,M.,
            Arno,G., Pontikos,N., Mahroo,O.A., Tsang,S.H., Webster,A.R. and
            Michaelides,M.
  TITLE     RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy:
            Genetic Characterization, Natural History, and Deep Phenotyping
  JOURNAL   Am J Ophthalmol 258, 119-129 (2024)
   PUBMED   37806543
  REMARK    GeneRIF: RBP3-Retinopathy-Inherited High Myopia and Retinal
            Dystrophy: Genetic Characterization, Natural History, and Deep
            Phenotyping.
REFERENCE   2  (bases 1 to 4290)
  AUTHORS   Kaushik,V., Gessa,L., Kumar,N. and Fernandes,H.
  TITLE     Towards a New Biomarker for Diabetic Retinopathy: Exploring RBP3
            Structure and Retinoids Binding for Functional Imaging of Eyes In
            Vivo
  JOURNAL   Int J Mol Sci 24 (5), 4408 (2023)
   PUBMED   36901838
  REMARK    GeneRIF: Towards a New Biomarker for Diabetic Retinopathy:
            Exploring RBP3 Structure and Retinoids Binding for Functional
            Imaging of Eyes In Vivo.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4290)
  AUTHORS   Fickweiler,W., Park,H., Park,K., Mitzner,M.G., Chokshi,T.,
            Boumenna,T., Gautier,J., Zaitsu,Y., Wu,I.H., Cavallerano,J.,
            Aiello,L.P., Sun,J.K. and King,G.L.
  TITLE     Elevated Retinol Binding Protein 3 Concentrations Are Associated
            With Decreased Vitreous Inflammatory Cytokines, VEGF, and
            Progression of Diabetic Retinopathy
  JOURNAL   Diabetes Care 45 (9), 2159-2162 (2022)
   PUBMED   35852358
  REMARK    GeneRIF: Elevated Retinol Binding Protein 3 Concentrations Are
            Associated With Decreased Vitreous Inflammatory Cytokines, VEGF,
            and Progression of Diabetic Retinopathy.
REFERENCE   4  (bases 1 to 4290)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 4290)
  AUTHORS   Yokomizo,H., Maeda,Y., Park,K., Clermont,A.C., Hernandez,S.L.,
            Fickweiler,W., Li,Q., Wang,C.H., Paniagua,S.M., Simao,F.,
            Ishikado,A., Sun,B., Wu,I.H., Katagiri,S., Pober,D.M.,
            Tinsley,L.J., Avery,R.L., Feener,E.P., Kern,T.S., Keenan,H.A.,
            Aiello,L.P., Sun,J.K. and King,G.L.
  TITLE     Retinol binding protein 3 is increased in the retina of patients
            with diabetes resistant to diabetic retinopathy
  JOURNAL   Sci Transl Med 11 (499) (2019)
   PUBMED   31270273
  REMARK    GeneRIF: Elevated expression of photoreceptor-secreted RBP3 may
            have a role in protection against the progression of diabetic
            retinopathy.
REFERENCE   6  (bases 1 to 4290)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   7  (bases 1 to 4290)
  AUTHORS   Albini,A., Toffenetti,J., Zhu,Z., Chader,G.J. and Noonan,D.M.
  TITLE     Hypomethylation of the interphotoreceptor retinoid-binding protein
            (IRBP) promotor and first exon is linked to expression of the gene
  JOURNAL   Nucleic Acids Res 18 (17), 5181-5187 (1990)
   PUBMED   2402443
REFERENCE   8  (bases 1 to 4290)
  AUTHORS   Fong,S.L., Fong,W.B., Morris,T.A., Kedzie,K.M. and Bridges,C.D.
  TITLE     Characterization and comparative structural features of the gene
            for human interstitial retinol-binding protein
  JOURNAL   J Biol Chem 265 (7), 3648-3653 (1990)
   PUBMED   2303470
REFERENCE   9  (bases 1 to 4290)
  AUTHORS   Si,J.S., Borst,D.E., Redmond,T.M. and Nickerson,J.M.
  TITLE     Cloning of cDNAs encoding human interphotoreceptor retinoid-binding
            protein (IRBP) and comparison with bovine IRBP sequences
  JOURNAL   Gene 80 (1), 99-108 (1989)
   PUBMED   2792773
REFERENCE   10 (bases 1 to 4290)
  AUTHORS   Liou,G.I., Ma,D.P., Yang,Y.W., Geng,L., Zhu,C. and Baehr,W.
  TITLE     Human interstitial retinoid-binding protein. Gene structure and
            primary structure
  JOURNAL   J Biol Chem 264 (14), 8200-8206 (1989)
   PUBMED   2542268
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL731561.12, M22453.1 and
            BC039844.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_002900.2.
            
            Summary: Interphotoreceptor retinol-binding protein is a large
            glycoprotein known to bind retinoids and found primarily in the
            interphotoreceptor matrix of the retina between the retinal pigment
            epithelium and the photoreceptor cells. It is thought to transport
            retinoids between the retinal pigment epithelium and the
            photoreceptors, a critical role in the visual process.The human
            IRBP gene is approximately 9.5 kbp in length and consists of four
            exons separated by three introns. The introns are 1.6-1.9 kbp long.
            The gene is transcribed by photoreceptor and retinoblastoma cells
            into an approximately 4.3-kilobase mRNA that is translated and
            processed into a glycosylated protein of 135,000 Da. The amino acid
            sequence of human IRBP can be divided into four contiguous homology
            domains with 33-38% identity, suggesting a series of gene
            duplication events. In the gene, the boundaries of these domains
            are not defined by exon-intron junctions, as might have been
            expected. The first three homology domains and part of the fourth
            are all encoded by the first large exon, which is 3,180 base pairs
            long. The remainder of the fourth domain is encoded in the last
            three exons, which are 191, 143, and approximately 740 base pairs
            long, respectively. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC039844.1, AB593121.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968968,
                                           SAMEA2142853 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000584701.2/ ENSP00000463151.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 AL731561.12        113585-113592       c
            9-31                M22453.1           1-23
            32-2391             BC039844.1         14-2373
            2392-4084           M22453.1           2385-4077
            4085-4284           BC039844.1         4067-4266
            4285-4290           AL731561.12        104074-104079       c
FEATURES             Location/Qualifiers
     source          1..4290
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.22"
     gene            1..4290
                     /gene="RBP3"
                     /gene_synonym="D10S64; D10S65; D10S66; IRBP; RBPI; RP66"
                     /note="retinol binding protein 3"
                     /db_xref="GeneID:5949"
                     /db_xref="HGNC:HGNC:9921"
                     /db_xref="MIM:180290"
     exon            1..3176
                     /gene="RBP3"
                     /gene_synonym="D10S64; D10S65; D10S66; IRBP; RBPI; RP66"
                     /inference="alignment:Splign:2.1.0"
     CDS             123..3866
                     /gene="RBP3"
                     /gene_synonym="D10S64; D10S65; D10S66; IRBP; RBPI; RP66"
                     /note="interphotoreceptor retinoid-binding protein;
                     interstitial retinol binding protein 3; retinol binding
                     protein 3, interstitial"
                     /codon_start=1
                     /product="retinol-binding protein 3 precursor"
                     /protein_id="NP_002891.1"
                     /db_xref="CCDS:CCDS73119.1"
                     /db_xref="GeneID:5949"
                     /db_xref="HGNC:HGNC:9921"
                     /db_xref="MIM:180290"
                     /translation="MMREWVLLMSVLLCGLAGPTHLFQPSLVLDMAKVLLDNYCFPEN
                     LLGMQEAIQQAIKSHEILSISDPQTLASVLTAGVQSSLNDPRLVISYEPSTPEPPPQV
                     PALTSLSEEELLAWLQRGLRHEVLEGNVGYLRVDSVPGQEVLSMMGEFLVAHVWGNLM
                     GTSALVLDLRHCTGGQVSGIPYIISYLHPGNTILHVDTIYNRPSNTTTEIWTLPQVLG
                     ERYGADKDVVVLTSSQTRGVAEDIAHILKQMRRAIVVGERTGGGALDLRKLRIGESDF
                     FFTVPVSRSLGPLGGGSQTWEGSGVLPCVGTPAEQALEKALAILTLRSALPGVVHCLQ
                     EVLKDYYTLVDRVPTLLQHLASMDFSTVVSEEDLVTKLNAGLQAASEDPRLLVRAIGP
                     TETPSWPAPDAAAEDSPGVAPELPEDEAIRQALVDSVFQVSVLPGNVGYLRFDSFADA
                     SVLGVLAPYVLRQVWEPLQDTEHLIMDLRHNPGGPSSAVPLLLSYFQGPEAGPVHLFT
                     TYDRRTNITQEHFSHMELPGPRYSTQRGVYLLTSHRTATAAEEFAFLMQSLGWATLVG
                     EITAGNLLHTRTVPLLDTPEGSLALTVPVLTFIDNHGEAWLGGGVVPDAIVLAEEALD
                     KAQEVLEFHQSLGALVEGTGHLLEAHYARPEVVGQTSALLRAKLAQGAYRTAVDLESL
                     ASQLTADLQEVSGDHRLLVFHSPGELVVEEAPPPPPAVPSPEELTYLIEALFKTEVLP
                     GQLGYLRFDAMAELETVKAVGPQLVRLVWQQLVDTAALVIDLRYNPGSYSTAIPLLCS
                     YFFEAEPRQHLYSVFDRATSKVTEVWTLPQVAGQRYGSHKDLYILMSHTSGSAAEAFA
                     HTMQDLQRATVIGEPTAGGALSVGIYQVGSSPLYASMPTQMAMSATTGKAWDLAGVEP
                     DITVPMSEALSIAQDIVALRAKVPTVLQTAGKLVADNYASAELGAKMATKLSGLQSRY
                     SRVTSEVALAEILGADLQMLSGDPHLKAAHIPENAKDRIPGIVPMQIPSPEVFEELIK
                     FSFHTNVLEDNIGYLRFDMFGDGELLTQVSRLLVEHIWKKIMHTDAMIIDMRFNIGGP
                     TSSIPILCSYFFDEGPPVLLDKIYSRPDDSVSELWTHAQVVGERYGSKKSMVILTSSV
                     TAGTAEEFTYIMKRLGRALVIGEVTSGGCQPPQTYHVDDTNLYLTIPTARSVGASDGS
                     SWEGVGVTPHVVVPAEEALARAKEMLQHNQLRVKRSPGLQDHL"
     exon            3177..3367
                     /gene="RBP3"
                     /gene_synonym="D10S64; D10S65; D10S66; IRBP; RBPI; RP66"
                     /inference="alignment:Splign:2.1.0"
     exon            3368..3510
                     /gene="RBP3"
                     /gene_synonym="D10S64; D10S65; D10S66; IRBP; RBPI; RP66"
                     /inference="alignment:Splign:2.1.0"
     exon            3511..4290
                     /gene="RBP3"
                     /gene_synonym="D10S64; D10S65; D10S66; IRBP; RBPI; RP66"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4264..4269
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RBP3"
                     /gene_synonym="D10S64; D10S65; D10S66; IRBP; RBPI; RP66"
                     /note="hexamer: ATTATA"
     polyA_site      4290
                     /gene="RBP3"
                     /gene_synonym="D10S64; D10S65; D10S66; IRBP; RBPI; RP66"
                     /note="major polyA site"
ORIGIN      
        1 agaccttctg tccaccagct gagaaggaca agggcggaag gcagctgcac agagcagggc
       61 cacggccttg cacacagtcc agggagcttt tgtgcaggag ccaggcctcc ccctgggtcc
      121 ccatgatgag agaatgggtt ctgctcatgt ccgtgctgct ctgtggcctg gctggcccca
      181 cacacctgtt ccagccaagc ctggtgctgg acatggccaa ggtcctcttg gataactact
      241 gcttcccgga gaacctgctg ggcatgcagg aagccatcca gcaggccatc aagagccatg
      301 agattctgag catctcagac ccgcagacgc tggccagtgt gctgacagcc ggggtgcaga
      361 gctccctgaa cgatcctcgc ctggtcatct cctatgagcc cagcaccccc gagcctcccc
      421 cacaagtccc agcactcacc agcctctcag aagaggaact gcttgcctgg ctgcaaaggg
      481 gcctccgcca tgaggttctg gagggtaatg tgggctacct gcgggtggac agcgtcccgg
      541 gccaggaggt gctgagcatg atgggggagt tcctggtggc ccacgtgtgg gggaatctca
      601 tgggcacctc cgccttagtg ctggatctcc ggcactgcac aggaggccag gtctctggca
      661 ttccctacat catctcctac ctgcacccag ggaacaccat cctgcacgtg gacactatct
      721 acaaccgccc ctccaacacc accacggaga tctggacctt gccccaggtc ctgggagaaa
      781 ggtacggtgc cgacaaggat gtggtggtcc tcaccagcag ccagaccagg ggcgtggccg
      841 aggacatcgc gcacatcctt aagcagatgc gcagggccat cgtggtgggc gagcggactg
      901 ggggaggggc cctggacctc cggaagctga ggataggcga gtctgacttc ttcttcacgg
      961 tgcccgtgtc caggtccctg gggccccttg gtggaggcag ccagacgtgg gagggcagcg
     1021 gggtgctgcc ctgtgtgggg actccggccg agcaggccct ggagaaagcc ctggccatcc
     1081 tcactctgcg cagcgccctt ccaggggtag tccactgcct ccaggaggtc ctgaaggact
     1141 actacacgct ggtggaccgt gtgcccaccc tgctgcagca cttggccagc atggacttct
     1201 ccacggtggt ctccgaggaa gatctggtca ccaagctcaa tgccggcctg caggctgcgt
     1261 ctgaggatcc caggctcctg gtgcgagcca tcgggcccac agaaactcct tcttggcccg
     1321 cgcccgacgc tgcagccgaa gactcaccag gggtggcccc agagttgcct gaggacgagg
     1381 ctatccggca agcactggtg gactctgtgt tccaggtgtc ggtgctgcca ggcaatgtgg
     1441 gctacctgcg cttcgatagt tttgctgacg cctccgtcct gggtgtgttg gccccatatg
     1501 tcctgcgcca ggtgtgggag ccgctacagg acacggagca cctcatcatg gacctgcgcc
     1561 acaaccctgg agggccatcc tctgctgtgc ccctgctcct gtcctacttc cagggccctg
     1621 aggccggccc cgtgcacctc ttcaccacct atgatcgccg caccaacatc acgcaggagc
     1681 acttcagcca catggagctc ccgggcccac gctacagcac ccaacgtggg gtgtatctgc
     1741 tcaccagcca ccgcaccgcc acggccgcgg aggagttcgc cttccttatg cagtcgctgg
     1801 gctgggccac actggtaggt gagatcaccg cgggcaacct gctgcacacc cgcacggtgc
     1861 cgctgctgga cacacccgaa ggcagcctcg cgctcaccgt gccggtcctc accttcatcg
     1921 acaatcacgg cgaggcctgg ctgggtggtg gagtggtgcc cgatgccatc gtgctggccg
     1981 aggaggccct ggacaaagcc caggaagtgc tggagttcca ccaaagcctg ggggccttgg
     2041 tggagggcac agggcacctg ctggaggccc actatgctcg gccagaggtc gtggggcaga
     2101 ccagtgccct cctgcgggcc aagctggccc agggcgccta ccgcacagct gtggacttgg
     2161 agtctctggc ctctcagctc acagcagacc tccaggaggt gtctggggac caccgcttgc
     2221 tagtgttcca cagccctggc gagctggtgg tagaggaagc acccccacca ccccctgctg
     2281 tcccctctcc agaggagctc acctacctta ttgaggccct gttcaagaca gaggtgctgc
     2341 ccggccagct gggctacctg cgttttgacg ccatggctga actggagaca gtgaaggccg
     2401 tggggccaca gctggtgcgg ctggtatggc aacagctggt ggacacggct gcgctggtga
     2461 tcgacctgcg ctacaaccct ggcagctact ccacggccat cccgctgctc tgctcctact
     2521 tctttgaggc agagccccgc cagcacctgt attctgtctt tgacagggcc acctcaaaag
     2581 tcacggaggt gtggaccttg ccccaggtcg ccggccagcg ctacggctca cacaaggacc
     2641 tctacatcct gatgagccac accagtggct ctgcggccga ggcctttgca cacaccatgc
     2701 aggacctgca gcgggccacg gtcattgggg agcccacggc cggaggcgca ctctctgtgg
     2761 gcatctacca ggtgggcagc agccccttat atgcatccat gcccacccag atggccatga
     2821 gtgccaccac aggcaaggcc tgggacctgg ctggtgtgga gcccgacatc actgtgccca
     2881 tgagcgaagc cctttccata gcccaggaca tagtggctct gcgtgccaag gtgcccacgg
     2941 tgctgcagac ggccgggaag ctggtggctg ataactatgc ctctgccgag ctgggggcca
     3001 agatggccac caaactgagc ggtctgcaga gccgctactc cagggtgacc tcagaagtgg
     3061 ccctagccga gatcctgggg gctgacctgc agatgctctc cggagaccca cacctgaagg
     3121 cagcccatat ccctgagaat gccaaggacc gcattcctgg aattgtgccc atgcagatcc
     3181 cttcccctga agtatttgaa gagctgatca agttttcctt ccacactaac gtgcttgagg
     3241 acaacattgg ctacttgagg tttgacatgt ttggggacgg tgagctgctc acccaggtct
     3301 ccaggctgct ggtggagcac atctggaaga agatcatgca cacggatgcc atgatcatcg
     3361 acatgaggtt caacatcggt ggccccacat cctccattcc catcttgtgc tcctacttct
     3421 ttgatgaagg ccctccagtt ctgctggaca agatctacag ccggcctgat gactctgtca
     3481 gtgaactctg gacacacgcc caggttgtag gtgaacgcta tggctccaag aagagcatgg
     3541 tcattctgac cagcagtgtg acggccggca ccgcggagga gttcacctat atcatgaaga
     3601 ggctgggccg ggccctggtc attggggagg tgaccagtgg gggctgccag ccaccacaga
     3661 cctaccacgt ggatgacacc aacctctacc tcactatccc cacggcccgt tctgtggggg
     3721 cctcggatgg cagctcctgg gaaggggtgg gggtgacacc ccatgtggtt gtccctgcag
     3781 aagaggctct cgccagggcc aaggagatgc tccagcacaa ccagctgagg gtgaagcgga
     3841 gcccaggcct gcaggaccac ctgtagggaa gggccccata ggcagagccc cagggcagac
     3901 agaacctctg ggacacacac caagggcact cctgcaggtg gcccggcctg aggttcccag
     3961 gagcagcaaa ggggcctgct gagctctggt taggttacag ctggaggtgt gtatatatac
     4021 acacacacac atgtatatac acatatatat gtgtatgtat atatatgtat atatatatgg
     4081 ctttccaata accacctaaa ttttaacaaa ggttccttct aagtggtaga acttggggtg
     4141 gtatttttac cttccttctt catactttgc tctttttctt aaatactcat taatgtgcat
     4201 atatcattat tttcagatgc agctatcatt attccaaaat acaaaataaa gaagataaaa
     4261 taaattatat acccgagcca ttaaccacaa
//
