LOCUS       NM_000327               1358 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens retinal outer segment membrane protein 1 (ROM1), mRNA.
ACCESSION   NM_000327
VERSION     NM_000327.4
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 1358)
  AUTHORS   Zernant,J., Lee,W., Wang,J., Goetz,K., Ullah,E., Nagasaki,T.,
            Su,P.Y., Fishman,G.A., Tsang,S.H., Tumminia,S.J., Brooks,B.P.,
            Hufnagel,R.B., Chen,R. and Allikmets,R.
  TITLE     Rare and common variants in ROM1 and PRPH2 genes trans-modify
            Stargardt/ABCA4 disease
  JOURNAL   PLoS Genet 18 (3), e1010129 (2022)
   PUBMED   35353811
  REMARK    GeneRIF: Rare and common variants in ROM1 and PRPH2 genes
            trans-modify Stargardt/ABCA4 disease.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1358)
  AUTHORS   Zhang,M., Jiang,J. and Ma,C.
  TITLE     The Outer Retinal Membrane Protein 1 Could Inhibit Lung Cancer
            Progression as a Tumor Suppressor
  JOURNAL   Comput Math Methods Med 2021, 6651764 (2021)
   PUBMED   33680068
  REMARK    GeneRIF: The Outer Retinal Membrane Protein 1 Could Inhibit Lung
            Cancer Progression as a Tumor Suppressor.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1358)
  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   4  (bases 1 to 1358)
  AUTHORS   Bohm,S., Riedmayr,L.M., Nguyen,O.N.P., Giessl,A., Liebscher,T.,
            Butz,E.S., Schon,C., Michalakis,S., Wahl-Schott,C., Biel,M. and
            Becirovic,E.
  TITLE     Peripherin-2 and Rom-1 have opposing effects on rod outer segment
            targeting of retinitis pigmentosa-linked peripherin-2 mutants
  JOURNAL   Sci Rep 7 (1), 2321 (2017)
   PUBMED   28539581
  REMARK    GeneRIF: our study unravels unexpected opposing roles of per(WT)
            and Rom-1 in rod outer segment (OS)targeting of adRP-linked
            peripherin-2 mutants and suggests a new treatment strategy for the
            affected individuals.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1358)
  AUTHORS   Conley,S.M., Stuck,M.W., Watson,J.N. and Naash,M.I.
  TITLE     Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis
            pigmentosa
  JOURNAL   Hum Mol Genet 26 (3), 509-518 (2017)
   PUBMED   28053051
  REMARK    GeneRIF: ablation of Rom1 results in the conversion of an MD/PD
            phenotype characterized by cone functional defects and the
            formation of abnormal Prph2/Rom1 complexes to an RP phenotype
            characterized by rod-dominant functional defects and reductions in
            total Prph2 protein. Thus one method by which ROM1 may act as a
            disease modifier is by contributing to the large variability in
            PRPH2-associated disease phenotype
REFERENCE   6  (bases 1 to 1358)
  AUTHORS   Kajiwara,K., Berson,E.L. and Dryja,T.P.
  TITLE     Digenic retinitis pigmentosa due to mutations at the unlinked
            peripherin/RDS and ROM1 loci
  JOURNAL   Science 264 (5165), 1604-1608 (1994)
   PUBMED   8202715
REFERENCE   7  (bases 1 to 1358)
  AUTHORS   Bascom,R.A., Liu,L., Humphries,P., Fishman,G.A., Murray,J.C. and
            McInnes,R.R.
  TITLE     Polymorphisms and rare sequence variants at the ROM1 locus
  JOURNAL   Hum Mol Genet 2 (11), 1975-1977 (1993)
   PUBMED   7904211
REFERENCE   8  (bases 1 to 1358)
  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 1358)
  AUTHORS   Bascom,R.A., Garcia-Heras,J., Hsieh,C.L., Gerhard,D.S., Jones,C.,
            Francke,U., Willard,H.F., Ledbetter,D.H. and McInnes,R.R.
  TITLE     Localization of the photoreceptor gene ROM1 to human chromosome 11
            and mouse chromosome 19: sublocalization to human 11q13 between PGA
            and PYGM
  JOURNAL   Am J Hum Genet 51 (5), 1028-1035 (1992)
   PUBMED   1415249
REFERENCE   10 (bases 1 to 1358)
  AUTHORS   Bascom,R.A., Manara,S., Collins,L., Molday,R.S., Kalnins,V.I. and
            McInnes,R.R.
  TITLE     Cloning of the cDNA for a novel photoreceptor membrane protein
            (rom-1) identifies a disk rim protein family implicated in human
            retinopathies
  JOURNAL   Neuron 8 (6), 1171-1184 (1992)
   PUBMED   1610568
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001458.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 25, 2020 this sequence version replaced NM_000327.3.
            
            Summary: This gene is a member of a photoreceptor-specific gene
            family and encodes an integral membrane protein found in the
            photoreceptor disk rim of the eye. This protein can form homodimers
            or can heterodimerize with another photoreceptor, retinal
            degeneration slow (RDS). It is essential for disk morphogenesis,
            and may also function as an adhesion molecule involved in the
            stabilization and compaction of outer segment disks or in the
            maintenance of the curvature of the rim. Certain defects in this
            gene have been associated with the degenerative eye disease
            retinitis pigmentosa. [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 :: BC008100.1, L07894.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000278833.4/ ENSP00000278833.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-615               AP001458.6         20524-21138
            616-862             AP001458.6         21525-21771
            863-1358            AP001458.6         21888-22383
FEATURES             Location/Qualifiers
     source          1..1358
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.3"
     gene            1..1358
                     /gene="ROM1"
                     /gene_synonym="ROM; ROSP1; RP7; TSPAN23"
                     /note="retinal outer segment membrane protein 1"
                     /db_xref="GeneID:6094"
                     /db_xref="HGNC:HGNC:10254"
                     /db_xref="MIM:180721"
     exon            1..615
                     /gene="ROM1"
                     /gene_synonym="ROM; ROSP1; RP7; TSPAN23"
                     /inference="alignment:Splign:2.1.0"
     CDS             26..1081
                     /gene="ROM1"
                     /gene_synonym="ROM; ROSP1; RP7; TSPAN23"
                     /note="tetraspanin-23"
                     /codon_start=1
                     /product="rod outer segment membrane protein 1"
                     /protein_id="NP_000318.2"
                     /db_xref="CCDS:CCDS8024.1"
                     /db_xref="GeneID:6094"
                     /db_xref="HGNC:HGNC:10254"
                     /db_xref="MIM:180721"
                     /translation="MAPVLPLVLPLQPRIRLAQGLWLLSWLLALAGGVILLCSGHLLV
                     QLRHLGTFLAPSCQFPVLPQAALAAGAVALGTGLVGVGASRASLNAALYPPWRGVLGP
                     LLVAGTAGGGGLLVVGLGLALALPGSLDEALEEGLVTALAHYKDTEVPGHCQAKRLVD
                     ELQLRYHCCGRHGYKDWFGVQWVSSRYLDPGDRDVADRIQSNVEGLYLTDGVPFSCCN
                     PHSPRPCLQNRLSDSYAHPLFDPRQPNQNLWAQGCHEVLLEHLQDLAGTLGSMLAVTF
                     LLQALVLLGLRYLQTALEGLGGVIDAGGETQGYLFPSGLKDMLKTAWLQGGVACRPAP
                     EEAPPGEAPPKEDLSEA"
     exon            616..862
                     /gene="ROM1"
                     /gene_synonym="ROM; ROSP1; RP7; TSPAN23"
                     /inference="alignment:Splign:2.1.0"
     exon            863..1358
                     /gene="ROM1"
                     /gene_synonym="ROM; ROSP1; RP7; TSPAN23"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1339..1344
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ROM1"
                     /gene_synonym="ROM; ROSP1; RP7; TSPAN23"
                     /note="hexamer: AATAAA"
     polyA_site      1358
                     /gene="ROM1"
                     /gene_synonym="ROM; ROSP1; RP7; TSPAN23"
                     /note="major polyA site"
ORIGIN      
        1 gcattccctt gggcagagat gggagatggc gccggtgttg cccctggtgc tgcccctgca
       61 gccccgcatc cgcctggcac aagggctctg gctcctctcc tggctgctgg cgctggctgg
      121 tggcgtcatc ctcctctgta gtgggcacct cctggtccag ctaaggcacc ttggcacctt
      181 cctggctccc tcctgtcagt tccctgtcct gccccaggct gccctggcag cgggcgcggt
      241 ggctctgggc acaggactag tgggtgtagg agccagccgg gcaagtctga atgcagctct
      301 ataccctccc tggcgagggg tcctgggccc gctgctggtg gctggcacgg ctggtggggg
      361 ggggctcctg gtcgtcggcc tcgggctagc cctggctttg cctgggagtc tggatgaggc
      421 gctggaggag ggcctggtga ctgccttggc tcactacaag gacacagagg tgcctgggca
      481 ctgtcaggcc aaaaggctgg tggatgagct gcaactgagg taccactgct gcgggcgcca
      541 cgggtacaag gattggtttg gggtccagtg ggtcagcagc cgttacctgg atcccggtga
      601 ccgggatgtg gctgaccgga tccagagcaa tgtagaaggc ctatacctga ctgatggggt
      661 ccctttctcc tgttgcaacc cccactcacc ccggccttgc ctgcaaaacc gtctttcaga
      721 ctcctacgcc caccccctgt tcgatccccg acaacccaac caaaacctct gggcccaagg
      781 gtgccatgag gtgctgctgg agcacttgca ggacttggca ggcacactgg gtagcatgct
      841 ggctgtcacc ttcctactgc aggctctggt gctccttggc ctgcggtacc tgcaaacagc
      901 actggagggg cttggagggg tcattgatgc gggaggagag acccagggct atctctttcc
      961 cagtgggctg aaagatatgc tgaaaacagc atggctacag ggaggggttg cctgcaggcc
     1021 agcacctgag gaggccccac caggagaagc acctcccaag gaggatctat ctgaggccta
     1081 gaggcctgga gcttggggtg aggaagaggg agggatggac aagtctgaaa acctcacaac
     1141 tccttaccaa ggctccaggt tggggggatc gtaggattag aggggctaag gatagtcagc
     1201 gagctggact ggggtaagaa agaaaaccag atgtcctagg gcctagccct tgtagtcaga
     1261 accaccaggg aacagcaaag aacagagtga tgggaaagtg acatgagaag gcctggaggc
     1321 tgattctgat atagactcaa taaagttttt ggatggaa
//
