LOCUS       NP_006260               2156 aa            linear   PRI 28-APR-2025
DEFINITION  oxygen-regulated protein 1 isoform 1 [Homo sapiens].
ACCESSION   NP_006260 XP_001714844 XP_001714927 XP_001714975
VERSION     NP_006260.1
DBSOURCE    REFSEQ: accession NM_006269.2
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  (residues 1 to 2156)
  AUTHORS   Natsume,K., Kominami,T., Goto,K., Koyanagi,Y., Inooka,T., Ota,J.,
            Kawano,K., Yamada,K., Okuda,D., Yuki,K., Nishiguchi,K.M. and
            Ushida,H.
  TITLE     Phenotypic variability of RP1-related inherited retinal dystrophy
            associated with the c.5797 C > T (p.Arg1933*) variant in the
            Japanese population
  JOURNAL   Sci Rep 14 (1), 25669 (2024)
   PUBMED   39463394
  REMARK    GeneRIF: Phenotypic variability of RP1-related inherited retinal
            dystrophy associated with the c.5797 C > T (p.Arg1933*) variant in
            the Japanese population.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 2156)
  AUTHORS   D'Esposito,F., Randazzo,V., Vega,M.I., Esposito,G., Maltese,P.E.,
            Torregrossa,S., Scibetta,P., Listi,F., Gagliano,C., Scalia,L.,
            Pioppo,A., Marino,A., Piergentili,M., Malvone,E., Fioretti,T.,
            Vitrano,A., Piccione,M., Avitabile,T., Salvatore,F., Bertelli,M.,
            Costagliola,C., Cordeiro,M.F., Maggio,A. and D'Alcamo,E.
  TITLE     RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated
            Families Affected by Rod-Cone Dystrophy: Potential Founder Effect
            in Western Sicily
  JOURNAL   Medicina (Kaunas) 60 (2), 254 (2024)
   PUBMED   38399542
  REMARK    GeneRIF: RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly
            Unrelated Families Affected by Rod-Cone Dystrophy: Potential
            Founder Effect in Western Sicily.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 2156)
  AUTHORS   Chen,L., Zhao,M., Zhou,M., Luo,J., Li,S., Liu,X., Cheng,Z.,
            Zhuo,Y., Zeng,W., Zhang,Z. and Zhou,L.
  TITLE     LncRNA RP1-276N6.2 Expression and RP1-276N6.2 Gene Polymorphisms
            Contribute to the Risk of Coronary Artery Disease in Chinese Han
            Population
  JOURNAL   DNA Cell Biol 42 (12), 746-752 (2023)
   PUBMED   37843894
  REMARK    GeneRIF: LncRNA RP1-276N6.2 Expression and RP1-276N6.2 Gene
            Polymorphisms Contribute to the Risk of Coronary Artery Disease in
            Chinese Han Population.
REFERENCE   4  (residues 1 to 2156)
  AUTHORS   Lazaro-Guevara,J.M., Flores-Robles,B.J., Garrido-Lopez,K.M.,
            McKeown,R.J., Flores-Moran,A.E., Labrador-Sanchez,E.,
            Pinillos-Aransay,V., Trasahedo,E.A., Lopez-Martin,J.A.,
            Soberanis,L.S.R., Melgar,M.Y., Tellez-Arreola,J.L. and
            Thebault,S.C.
  TITLE     Identification of RP1 as the genetic cause of retinitis pigmentosa
            in a multi-generational pedigree using Extremely Low-Coverage Whole
            Genome Sequencing (XLC-WGS)
  JOURNAL   Gene 851, 146956 (2023)
   PUBMED   36341727
  REMARK    GeneRIF: Identification of RP1 as the genetic cause of retinitis
            pigmentosa in a multi-generational pedigree using Extremely
            Low-Coverage Whole Genome Sequencing (XLC-WGS).
REFERENCE   5  (residues 1 to 2156)
  AUTHORS   Won,D., Hwang,J.Y., Shim,Y., Byeon,S.H., Lee,J., Lee,C.S., Kim,M.,
            Lim,H.T., Choi,J.R., Lee,S.T. and Han,J.
  TITLE     In Silico identification of a common mobile element insertion in
            exon 4 of RP1
  JOURNAL   Sci Rep 11 (1), 13381 (2021)
   PUBMED   34183725
  REMARK    GeneRIF: In Silico identification of a common mobile element
            insertion in exon 4 of RP1.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 2156)
  AUTHORS   Sullivan,L.S., Heckenlively,J.R., Bowne,S.J., Zuo,J., Hide,W.A.,
            Gal,A., Denton,M., Inglehearn,C.F., Blanton,S.H. and Daiger,S.P.
  TITLE     Mutations in a novel retina-specific gene cause autosomal dominant
            retinitis pigmentosa
  JOURNAL   Nat Genet 22 (3), 255-259 (1999)
   PUBMED   10391212
REFERENCE   7  (residues 1 to 2156)
  AUTHORS   Pierce,E.A., Quinn,T., Meehan,T., McGee,T.L., Berson,E.L. and
            Dryja,T.P.
  TITLE     Mutations in a gene encoding a new oxygen-regulated photoreceptor
            protein cause dominant retinitis pigmentosa
  JOURNAL   Nat Genet 22 (3), 248-254 (1999)
   PUBMED   10391211
REFERENCE   8  (residues 1 to 2156)
  AUTHORS   Juwana,J.P., Henderikx,P., Mischo,A., Wadle,A., Fadle,N.,
            Gerlach,K., Arends,J.W., Hoogenboom,H., Pfreundschuh,M. and
            Renner,C.
  TITLE     EB/RP gene family encodes tubulin binding proteins
  JOURNAL   Int J Cancer 81 (2), 275-284 (1999)
   PUBMED   10188731
REFERENCE   9  (residues 1 to 2156)
  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   10 (residues 1 to 2156)
  AUTHORS   Blanton,S.H., Heckenlively,J.R., Cottingham,A.W., Friedman,J.,
            Sadler,L.A., Wagner,M., Friedman,L.H. and Daiger,S.P.
  TITLE     Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to
            the pericentric region of human chromosome 8
  JOURNAL   Genomics 11 (4), 857-869 (1991)
   PUBMED   1783394
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF141021.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On or before Jan 22, 2009 this sequence version replaced
            XP_001714927.1, XP_001714844.1, XP_001714975.1.
            
            Summary: This gene encodes a member of the doublecortin family. The
            protein encoded by this gene contains two doublecortin domains,
            which bind microtubules and regulate microtubule polymerization.
            The encoded protein is a photoreceptor microtubule-associated
            protein and is required for correct stacking of outer segment disc.
            This protein and the RP1L1 protein, another retinal-specific
            protein, play essential and synergistic roles in affecting
            photosensitivity and outer segment morphogenesis of rod
            photoreceptors. Because of its response to in vivo retinal oxygen
            levels, this protein was initially named ORP1 (oxygen-regulated
            protein-1). This protein was subsequently designated RP1 (retinitis
            pigmentosa 1) when it was found that mutations in this gene cause
            autosomal dominant retinitis pigmentosa. Mutations in this gene
            also cause autosomal recessive retinitis pigmentosa. Transcript
            variants resulted from an alternative promoter and alternative
            splicings have been found, which overlap the current reference
            sequence and has several exons upstream and downstream of the
            current reference sequence. However, the biological validity and
            full-length nature of some variants cannot be determined at this
            time.[provided by RefSeq, Sep 2010].
            
            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 :: AF141021.1, AF146592.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968968,
                                           SAMEA2144333 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000220676.2/ ENSP00000220676.1
            RefSeq Select criteria :: based on longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2156
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q11.23-q12.1"
     Protein         1..2156
                     /product="oxygen-regulated protein 1 isoform 1"
                     /note="oxygen-regulated protein 1; retinitis pigmentosa 1
                     protein; retinitis pigmentosa 1 (autosomal dominant);
                     doublecortin domain containing 4A; retinitis pigmentosa
                     RP1 protein"
                     /calculated_mol_wt=240531
     Region          1..25
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P56715.1)"
     Region          36..114
                     /region_name="DCX1_RP1"
                     /note="Doublecortin-like domain 1 found in retinitis
                     pigmentosa 1 (RP1)-like protein; cd17145"
                     /db_xref="CDD:340665"
     Region          154..229
                     /region_name="DCX2_RP1"
                     /note="Dublecortin-like domain 2 found in retinitis
                     pigmentosa 1 (RP1)-like protein; cd17147"
                     /db_xref="CDD:340667"
     Site            order(167,204)
                     /site_type="other"
                     /note="key conserved lysines"
                     /db_xref="CDD:340667"
     Region          353..375
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P56715.1)"
     Region          666..686
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P56715.1)"
     Region          1438..1458
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P56715.1)"
     Region          1590..1621
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P56715.1)"
     CDS             1..2156
                     /gene="RP1"
                     /gene_synonym="DCDC4A; ORP1"
                     /coded_by="NM_006269.2:120..6590"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS6160.1"
                     /db_xref="GeneID:6101"
                     /db_xref="HGNC:HGNC:10263"
                     /db_xref="MIM:603937"
ORIGIN      
        1 msdtpstgfs iihptssegq vppprhlslt hpvvakrisf yksgdpqfgg vrvvvnprsf
       61 ksfdalldnl srkvplpfgv rnistprgrh sitrleeled gesylcshgr kvqpvdldka
      121 rrrprpwlss raisahspph pvavaapgmp rpprslvvfr ngdpktrrav llsrrvtqsf
      181 eaflqhltev mqrpvvklya tdgrrvpslq avilssgavv aagrepfkpg nydiqkyllp
      241 arlpgisqrv ypkgnakses rkisthmsss srsqiysvss ekthnndcyl dysfvpekyl
      301 alekndsqnl piypseddie ksiifnqdgt mtvemkvrfr ikeeetikwt ttvsktgpsn
      361 ndeksemsfp grtesrssgl klaacsfsad vspmerssnq egslaeeini qmtdqvaetc
      421 ssaswenatv dtdiiqgtqd qakhrfyrpp tpglrrvrqk ksvigsvtlv setevqekmi
      481 gqfsyseere sgenkseyhm fthscskmss vsnkpvlvqi nnndqmeess lerkkensll
      541 kssaisagvi eitsqkmlem shnnglpsti snnsiveedv vdcvvldnkt giknfktygn
      601 tndrfspisa dathfssnns gtdkniseap aseasstvta ridrlinefa qcgltklpkn
      661 ekkilssvas kkkkksrqqa insryqdgql atkgilnkne rintkgritk emivqdsdsp
      721 lkggilceed lqksdtvies ntfcsksnln stisknfhrn klnttqnskv qglltkrksr
      781 slnkislgap kkreigqrdk vfphneskyc kstfenkslf hvfnileqkp kdfyapqsqa
      841 evasgylrgm akkslvskvt dshitlksqk krkgdkvkas ailskqhatt ranslaslkk
      901 pdfpeaiahh siqnyiqswl qninpyptlk piksapvcrn etsvvncsnn sfsgndphtn
      961 sgkisnfvme snkhitkiag ltgdnlckeg dksfiandtg eedlhetqvg slndaylvpl
     1021 hehctlsqsa indhntkshi aaeksgpekk lvyqeinlar krqsveaaiq vdpieeetpk
     1081 dllpvlmlhq lqasvpgihk tqngvvqmpg slagvpfhsa icnsstnlll awllvlnlkg
     1141 smnsfcqvda hkatnksset lalleilkhi aiteeaddlk aavanlvest tshfglseke
     1201 qdmvpidlsa ncstvniqsv pkcsenertq gissldggcs aseacapevc vlevtcspce
     1261 mctvnkaysp ketcnpsdtf fpsdgygvdq tsmnkacflg evcsltdtvf sdkacaqken
     1321 htyegacpid etyvpvnvcn tidflnsken tytdnldste elergddiqk dlniltdpey
     1381 kngfntlvsh qnvsnlsscg lclsekeael dkkhsslddf encslrkfqd enaytsfdme
     1441 eprtseepgs itnsmtsser niselesfee lenhdtdifn tvvnggeqat eeliqeevea
     1501 sktlelidis sknimeekrm ngiiyeiisk rlatppsldf cydskqnsek etnegetkmv
     1561 kmmvktmetg sysesspdlk kcikspvtsd wsdyrpdsds eqpyktssdd pndsgeltqe
     1621 keynigfvkr aieklygkad iikpsffpgs trksqvcpyn svefqcsrka slydsegqsf
     1681 gsseqvssss smlqefqeer qdkcdvsavr dnycrgdive pgtkqnddsr iltdieegvl
     1741 idkgkwllke nhllrmssen pgmcgnadtt svdtlldnns sevpyshfgn lapgptmdel
     1801 ssseleeltq plelkcnyfn mphgsdsepf hedlldvrne tcakerianh hteekgshqs
     1861 ervctsvths fisagnkvyp vsddaiknqp lpgsnmihgt lqeadsldkl yalcgqhcpi
     1921 ltviiqpmne edrgfayrke sdienflgfy lwmkihpyll qtdknvfree nnkasmrqnl
     1981 idnaigdifd qfyfsntfdl mgkrrkqkri nflgleeegn lkkfqpdlke rfcmnflhts
     2041 llvvgnvdsn tqdlsgqtne ifkavdennn llnnrfqgsr tnlnqvvren inchyffeml
     2101 gqaclldicq vetslnisnr nilelcmfeg enlfiweeed ilnltdless reqedl
//
