LOCUS       NM_000326               1638 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens retinaldehyde binding protein 1 (RLBP1), mRNA.
ACCESSION   NM_000326
VERSION     NM_000326.5
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 1638)
  AUTHORS   Richard,A.J., Huckfeldt,R.M., Reichel,E. and Liang,M.C.
  TITLE     Variants of Uncertain Significance: Twins With Identical Pathogenic
            Gene Mutations in Retinitis Punctata Albescens
  JOURNAL   Ophthalmic Surg Lasers Imaging Retina 52 (8), 450-453 (2021)
   PUBMED   34410188
  REMARK    GeneRIF: Variants of Uncertain Significance: Twins With Identical
            Pathogenic Gene Mutations in Retinitis Punctata Albescens.
REFERENCE   2  (bases 1 to 1638)
  AUTHORS   Sparrow,J.R., Parmann,R., Tsang,S.H., Allikmets,R., Chang,S. and
            Jauregui,R.
  TITLE     Shared Features in Retinal Disorders With Involvement of Retinal
            Pigment Epithelium
  JOURNAL   Invest Ophthalmol Vis Sci 62 (7), 15 (2021)
   PUBMED   34115091
  REMARK    GeneRIF: Shared Features in Retinal Disorders With Involvement of
            Retinal Pigment Epithelium.
REFERENCE   3  (bases 1 to 1638)
  AUTHORS   Al-Bdour,M., Pauleck,S., Dardas,Z., Barham,R., Ali,D., Amr,S.,
            Mustafa,L., Abu-Ameerh,M., Maswadi,R., Azab,B. and Awidi,A.
  TITLE     Clinical heterogeneity in retinitis pigmentosa caused by variants
            in RP1 and RLBP1 in five extended consanguineous pedigrees
  JOURNAL   Mol Vis 26, 445-458 (2020)
   PUBMED   32587456
  REMARK    GeneRIF: Clinical heterogeneity in retinitis pigmentosa caused by
            variants in RP1 and RLBP1 in five extended consanguineous
            pedigrees.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1638)
  AUTHORS   Lima de Carvalho,J.R. Jr., Kim,H.J., Ueda,K., Zhao,J., Owji,A.P.,
            Yang,T., Tsang,S.H. and Sparrow,J.R.
  TITLE     Effects of deficiency in the RLBP1-encoded visual cycle protein
            CRALBP on visual dysfunction in humans and mice
  JOURNAL   J Biol Chem 295 (19), 6767-6780 (2020)
   PUBMED   32188692
  REMARK    GeneRIF: Effects of deficiency in the RLBP1-encoded visual cycle
            protein CRALBP on visual dysfunction in humans and mice.
REFERENCE   5  (bases 1 to 1638)
  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   6  (bases 1 to 1638)
  AUTHORS   Dunn,K.C., Aotaki-Keen,A.E., Putkey,F.R. and Hjelmeland,L.M.
  TITLE     ARPE-19, a human retinal pigment epithelial cell line with
            differentiated properties
  JOURNAL   Exp Eye Res 62 (2), 155-169 (1996)
   PUBMED   8698076
REFERENCE   7  (bases 1 to 1638)
  AUTHORS   Intres,R., Goldflam,S., Cook,J.R. and Crabb,J.W.
  TITLE     Molecular cloning and structural analysis of the human gene
            encoding cellular retinaldehyde-binding protein
  JOURNAL   J Biol Chem 269 (41), 25411-25418 (1994)
   PUBMED   7929238
REFERENCE   8  (bases 1 to 1638)
  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   9  (bases 1 to 1638)
  AUTHORS   Sparkes,R.S., Heinzmann,C., Goldflam,S., Kojis,T., Saari,J.C.,
            Mohandas,T., Klisak,I., Bateman,J.B. and Crabb,J.W.
  TITLE     Assignment of the gene (RLBP1) for cellular retinaldehyde-binding
            protein (CRALBP) to human chromosome 15q26 and mouse chromosome 7
  JOURNAL   Genomics 12 (1), 58-62 (1992)
   PUBMED   1733864
REFERENCE   10 (bases 1 to 1638)
  AUTHORS   Crabb,J.W., Goldflam,S., Harris,S.E. and Saari,J.C.
  TITLE     Cloning of the cDNAs encoding the cellular retinaldehyde-binding
            protein from bovine and human retina and comparison of the protein
            structures
  JOURNAL   J Biol Chem 263 (35), 18688-18692 (1988)
   PUBMED   3198595
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC124068.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000326.4.
            
            Summary: The protein encoded by this gene is a 36-kD water-soluble
            protein which carries 11-cis-retinaldehyde or 11-cis-retinal as
            physiologic ligands. It may be a functional component of the visual
            cycle. Mutations of this gene have been associated with severe
            rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal
            recessive retinitis pigmentosa) and retinitis punctata albescens.
            [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: BC004199.2, SRR1803611.244325.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2157437
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000268125.10/ ENSP00000268125.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-45                AC124068.6         55114-55158         c
            46-168              AC124068.6         53316-53438         c
            169-280             AC124068.6         52543-52654         c
            281-409             AC124068.6         52144-52272         c
            410-614             AC124068.6         50699-50903         c
            615-793             AC124068.6         48639-48817         c
            794-952             AC124068.6         45322-45480         c
            953-1063            AC124068.6         44278-44388         c
            1064-1638           AC124068.6         43448-44022         c
FEATURES             Location/Qualifiers
     source          1..1638
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.1"
     gene            1..1638
                     /gene="RLBP1"
                     /gene_synonym="CRALBP"
                     /note="retinaldehyde binding protein 1"
                     /db_xref="GeneID:6017"
                     /db_xref="HGNC:HGNC:10024"
                     /db_xref="MIM:180090"
     exon            1..45
                     /gene="RLBP1"
                     /gene_synonym="CRALBP"
                     /inference="alignment:Splign:2.1.0"
     exon            46..168
                     /gene="RLBP1"
                     /gene_synonym="CRALBP"
                     /inference="alignment:Splign:2.1.0"
     exon            169..280
                     /gene="RLBP1"
                     /gene_synonym="CRALBP"
                     /inference="alignment:Splign:2.1.0"
     CDS             269..1222
                     /gene="RLBP1"
                     /gene_synonym="CRALBP"
                     /note="cellular retinaldehyde-binding protein-1"
                     /codon_start=1
                     /product="retinaldehyde-binding protein 1"
                     /protein_id="NP_000317.1"
                     /db_xref="CCDS:CCDS32324.1"
                     /db_xref="GeneID:6017"
                     /db_xref="HGNC:HGNC:10024"
                     /db_xref="MIM:180090"
                     /translation="MSEGVGTFRMVPEEEQELRAQLEQLTTKDHGPVFGPCSQLPRHT
                     LQKAKDELNEREETREEAVRELQEMVQAQAASGEELAVAVAERVQEKDSGFFLRFIRA
                     RKFNVGRAYELLRGYVNFRLQYPELFDSLSPEAVRCTIEAGYPGVLSSRDKYGRVVML
                     FNIENWQSQEITFDEILQAYCFILEKLLENEETQINGFCIIENFKGFTMQQAASLRTS
                     DLRKMVDMLQDSFPARFKAIHFIHQPWYFTTTYNVVKPFLKSKLLERVFVHGDDLSGF
                     YQEIDENILPSDFGGTLPKYDGKAVAEQLFGPQAQAENTAF"
     exon            281..409
                     /gene="RLBP1"
                     /gene_synonym="CRALBP"
                     /inference="alignment:Splign:2.1.0"
     exon            410..614
                     /gene="RLBP1"
                     /gene_synonym="CRALBP"
                     /inference="alignment:Splign:2.1.0"
     exon            615..793
                     /gene="RLBP1"
                     /gene_synonym="CRALBP"
                     /inference="alignment:Splign:2.1.0"
     exon            794..952
                     /gene="RLBP1"
                     /gene_synonym="CRALBP"
                     /inference="alignment:Splign:2.1.0"
     exon            953..1063
                     /gene="RLBP1"
                     /gene_synonym="CRALBP"
                     /inference="alignment:Splign:2.1.0"
     exon            1064..1638
                     /gene="RLBP1"
                     /gene_synonym="CRALBP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1613..1618
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RLBP1"
                     /gene_synonym="CRALBP"
                     /note="hexamer: AATAAA"
     polyA_site      1638
                     /gene="RLBP1"
                     /gene_synonym="CRALBP"
                     /note="major polyA site"
ORIGIN      
        1 attcaggtac caggtagccc caaggaggag ctgccgacct ggcagggaac aaccaagact
       61 ggggttaaat ctcacagcct gcaagtggaa gagaagaact tgaacccagg tccaactttt
      121 gcgccacagc aggctgcctc ttggtcctga caggaagtca caacttggcc ctgacttcct
      181 atcctaggga aggggccggc tggagaggcc aggacagaga aagcagatcc cttctttttc
      241 caaggactct gtgtcttcca taggcaacat gtcagaaggg gtgggcacgt tccgcatggt
      301 acctgaagag gaacaggagc tccgtgccca actggagcag ctcacaacca aggaccatgg
      361 acctgtcttt ggcccgtgca gccagctgcc ccgccacacc ttgcagaagg ccaaggatga
      421 gctgaacgag agagaggaga cccgggagga ggcagtgcga gagctgcagg agatggtgca
      481 ggcgcaggcg gcctcggggg aggagctggc ggtggccgtg gcggagaggg tgcaagagaa
      541 ggacagcggc ttcttcctgc gcttcatccg cgcacggaag ttcaacgtgg gccgtgccta
      601 tgagctgctc agaggctatg tgaatttccg gctgcagtac cctgagctct ttgacagcct
      661 gtccccagag gctgtccgct gcaccattga agctggctac cctggtgtcc tctctagtcg
      721 ggacaagtat ggccgagtgg tcatgctctt caacattgag aactggcaaa gtcaagaaat
      781 cacctttgat gagatcttgc aggcatattg cttcatcctg gagaagctgc tggagaatga
      841 ggaaactcaa atcaatggct tctgcatcat tgagaacttc aagggcttta ccatgcagca
      901 ggctgctagt ctccggactt cagatctcag gaagatggtg gacatgctcc aggattcctt
      961 cccagcccgg ttcaaagcca tccacttcat ccaccagcca tggtacttca ccacgaccta
     1021 caatgtggtc aagcccttct tgaagagcaa gctgcttgag agggtctttg tccacgggga
     1081 tgacctttct ggtttctacc aggagatcga tgagaacatc ctgccctctg acttcggggg
     1141 cacgctgccc aagtatgatg gcaaggccgt tgctgagcag ctctttggcc cccaggccca
     1201 agctgagaac acagccttct gaaaacatct cctgccagct gaactgtagt tagaatctct
     1261 gggcctctcc tcaactgtcc tggacccaag gctaggaaag ggctgcttga gatgactgtg
     1321 gtcccccctt agactcccta agcccgagtg agctcaggtg tcaccctgtt ctcaagttgg
     1381 gggatgggta ataaaggagg gggaattccc ttgaacaaga agaactgggg atagttatat
     1441 ttccacctgc ccttgaagct ttaagacagt gatttttgtg taaggttgta tttcaaagac
     1501 tcgaattcat tttctcagtc atttcctttg taacagagtt ttacgactta gagtctgtga
     1561 aaacaggcaa ggagcccggg ttaaaatatc cccctattcg cccccaaaat gcaataaaag
     1621 aagataaaag agagagga
//
