LOCUS       NM_001409675            4897 bp    mRNA    linear   ROD 22-SEP-2024
DEFINITION  Mus musculus CHM Rab escort protein (Chm), transcript variant 9,
            mRNA.
ACCESSION   NM_001409675
VERSION     NM_001409675.1
KEYWORDS    RefSeq.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 4897)
  AUTHORS   Sarkar,H., Tracey-White,D., Hagag,A.M., Burgoyne,T., Nair,N.,
            Jensen,L.D., Edwards,M.M. and Moosajee,M.
  TITLE     Loss of REP1 impacts choroidal melanogenesis and vasculogenesis in
            choroideremia
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1870 (2), 166963 (2024)
   PUBMED   37989423
REFERENCE   2  (bases 1 to 4897)
  AUTHORS   Meschede,I.P., Burgoyne,T., Tolmachova,T., Seabra,M.C. and
            Futter,C.E.
  TITLE     Chronically shortened rod outer segments accompany photoreceptor
            cell death in Choroideremia
  JOURNAL   PLoS One 15 (11), e0242284 (2020)
   PUBMED   33201897
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4897)
  AUTHORS   Collin,G.B., Gogna,N., Chang,B., Damkham,N., Pinkney,J., Hyde,L.F.,
            Stone,L., Naggert,J.K., Nishina,P.M. and Krebs,M.P.
  TITLE     Mouse Models of Inherited Retinal Degeneration with Photoreceptor
            Cell Loss
  JOURNAL   Cells 9 (4), 931 (2020)
   PUBMED   32290105
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4897)
  AUTHORS   Hayes,M.J., Burgoyne,T., Wavre-Shapton,S.T., Tolmachova,T.,
            Seabra,M.C. and Futter,C.E.
  TITLE     Remodeling of the Basal Labyrinth of Retinal Pigment Epithelial
            Cells With Osmotic Challenge, Age, and Disease
  JOURNAL   Invest Ophthalmol Vis Sci 60 (7), 2515-2524 (2019)
   PUBMED   31194861
REFERENCE   5  (bases 1 to 4897)
  AUTHORS   Wavre-Shapton,S.T., Tolmachova,T., Lopes da Silva,M., Futter,C.E.
            and Seabra,M.C.
  TITLE     Conditional ablation of the choroideremia gene causes age-related
            changes in mouse retinal pigment epithelium
  JOURNAL   PLoS One 8 (2), e57769 (2013)
   PUBMED   23460904
  REMARK    GeneRIF: Loss of the Chm/Rep1 gene causes premature accumulation of
            features of aging in the retinal pigment epithelium.
            Erratum:[PLoS One. 2013;8(5).
            doi:10.1371/annotation/83a88285-e6a0-41fb-ae67-4315c21e5090. da
            Silva, Mafalda Lopes [corrected to Lopes da Silva, Mafalda]]
REFERENCE   6  (bases 1 to 4897)
  AUTHORS   Shi,W., van den Hurk,J.A., Alamo-Bethencourt,V., Mayer,W.,
            Winkens,H.J., Ropers,H.H., Cremers,F.P. and Fundele,R.
  TITLE     Choroideremia gene product affects trophoblast development and
            vascularization in mouse extra-embryonic tissues
  JOURNAL   Dev Biol 272 (1), 53-65 (2004)
   PUBMED   15242790
REFERENCE   7  (bases 1 to 4897)
  AUTHORS   Stryke,D., Kawamoto,M., Huang,C.C., Johns,S.J., King,L.A.,
            Harper,C.A., Meng,E.C., Lee,R.E., Yee,A., L'Italien,L.,
            Chuang,P.T., Young,S.G., Skarnes,W.C., Babbitt,P.C. and Ferrin,T.E.
  TITLE     BayGenomics: a resource of insertional mutations in mouse embryonic
            stem cells
  JOURNAL   Nucleic Acids Res 31 (1), 278-281 (2003)
   PUBMED   12520002
REFERENCE   8  (bases 1 to 4897)
  AUTHORS   Alexandrov,K., Simon,I., Yurchenko,V., Iakovenko,A., Rostkova,E.,
            Scheidig,A.J. and Goody,R.S.
  TITLE     Characterization of the ternary complex between Rab7, REP-1 and Rab
            geranylgeranyl transferase
  JOURNAL   Eur J Biochem 265 (1), 160-170 (1999)
   PUBMED   10491170
REFERENCE   9  (bases 1 to 4897)
  AUTHORS   van den Hurk,J.A., Hendriks,W., van de Pol,D.J., Oerlemans,F.,
            Jaissle,G., Ruther,K., Kohler,K., Hartmann,J., Zrenner,E., van
            Bokhoven,H., Wieringa,B., Ropers,H.H. and Cremers,F.P.
  TITLE     Mouse choroideremia gene mutation causes photoreceptor cell
            degeneration and is not transmitted through the female germline
  JOURNAL   Hum Mol Genet 6 (6), 851-858 (1997)
   PUBMED   9175730
REFERENCE   10 (bases 1 to 4897)
  AUTHORS   Andres,D.A., Seabra,M.C., Brown,M.S., Armstrong,S.A., Smeland,T.E.,
            Cremers,F.P. and Goldstein,J.L.
  TITLE     cDNA cloning of component A of Rab geranylgeranyl transferase and
            demonstration of its role as a Rab escort protein
  JOURNAL   Cell 73 (6), 1091-1099 (1993)
   PUBMED   8513495
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL669958.14.
            
            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 :: SRR7345562.793278.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-110               AL669958.14        160405-160514       c
            111-177             AL669958.14        134708-134774       c
            178-250             AL669958.14        115918-115990       c
            251-375             AL669958.14        114540-114664       c
            376-786             AL669958.14        91220-91630         c
            787-903             AL669958.14        87753-87869         c
            904-1024            AL669958.14        87133-87253         c
            1025-1250           AL669958.14        85380-85605         c
            1251-1328           AL669958.14        55342-55419         c
            1329-1433           AL669958.14        47121-47225         c
            1434-1497           AL669958.14        44783-44846         c
            1498-1594           AL669958.14        40051-40147         c
            1595-1693           AL669958.14        28266-28364         c
            1694-1854           AL669958.14        22540-22700         c
            1855-4897           AL669958.14        15797-18839         c
FEATURES             Location/Qualifiers
     source          1..4897
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="X"
                     /map="X 48.94 cM"
     gene            1..4897
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /note="CHM Rab escort protein"
                     /db_xref="GeneID:12662"
                     /db_xref="MGI:MGI:892979"
     exon            1..110
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            111..177
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            178..250
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            251..375
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            376..786
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             433..2046
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /note="isoform 8 is encoded by transcript variant 9; rab
                     proteins geranylgeranyltransferase component A 1; rab
                     escort protein 1; choroideraemia protein homolog;
                     choroideremia protein homolog; choroidermia (RAB escort
                     protein 1)"
                     /codon_start=1
                     /product="rab proteins geranylgeranyltransferase component
                     A 1 isoform 8"
                     /protein_id="NP_001396604.1"
                     /db_xref="GeneID:12662"
                     /db_xref="MGI:MGI:892979"
                     /translation="MSAQATEAAEAAEAAEAAEATEAAEAACLPTAEESLSTRSCELP
                     AEQSQCTGPESSPQVNDAEVGEKETQSDAKSSTEQSSEILPKVQDNTETPKRNVITYS
                     QIIKEGRRFNIDLVSKLLYSRGLLIDLLIKSNVSRYAEFKNITRILAFREGTVEQVPC
                     SRADVFNSKQLTMVEKRMLMKFLTFCVEYEDHPDEYKAYEETTFSEYLKTQKLTPNLQ
                     YFVLHSIAMTSETTSSTVDGLKATKKFLQCLGRYGNTPFLFPLYGQGELPQCFCRMCA
                     VFGGIYCLRHSVQCLVVDKESRKCKAIVDQFGQRIISKHFVIEDSYLSENTCSGVQYR
                     QISRAVLITDGSVLKPDSDQQVSILTVPAEESGSFAVRVIELCSSTMTCMKGTYLVHL
                     TCMSSKTAREDLERVVQKLFTPYTEIEAENEQVEKPRILWALYFNMRDSSDISRDCYN
                     DLPSNVYVCSGPDCNLGNDNAVQQAETVFQKICPNEDFCPAPPNPEDIILDGDSSQQE
                     VSESSVIPETNSETPKESTVLGDSEEPSE"
     exon            787..903
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            904..1024
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1025..1250
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1251..1328
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1329..1433
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1434..1497
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1498..1594
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1595..1693
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1694..1854
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1855..4897
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4877..4882
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /note="hexamer: AATAAA"
     polyA_site      4897
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /note="major polyA site"
ORIGIN      
        1 gaggtagtgt ggagtcagcg caggacttgg cagctccagg gaggggcttg gacccgcggt
       61 gttttgcgcc ttttgagtag gggtcgatct ggtcgatgcc gattgctgag gtctgcctga
      121 atccatcatt gcagctgcat gttcaaggag tggccagagg gttctgcatg ttgattcaag
      181 aagctactat ggaggaaact gggccagttt cagcttttca ggactgttgt cctggctaaa
      241 ggaataccag gaaaatagtg atgttgtgac tgaaaattca atgtggcaag aacagatact
      301 tgaaaacgaa gaagctattc ttcttagtag caaggacaaa acaattcaac atgtagaagt
      361 attttgttat gccaggattt gcacaaagat gttgaagaag ctggtgcact gcagaaaaat
      421 cctgcttcag tgatgtccgc acaggccaca gaggccgcag aggctgcaga ggccgcagag
      481 gctgcagagg ccacagaggc tgcagaggcc gcttgccttc ctactgcaga ggagtcctta
      541 agcacgagga gctgtgaact acctgcagaa caaagtcagt gcacggggcc agagagttca
      601 ccacaagtaa atgatgctga agtaggagag aaagaaactc agagtgatgc aaaaagttca
      661 acagaacaat caagtgaaat tttgcctaaa gtacaagaca acacagagac accaaagaga
      721 aatgtaatta cttactcaca gattattaaa gaaggccgaa gatttaacat tgatttagta
      781 tcaaaacttc tctattctcg gggattacta attgatcttc taatcaaatc aaatgttagt
      841 cggtatgcag agtttaaaaa cattacgagg attcttgcat ttcgagaagg aactgtggaa
      901 caggtcccct gttccagagc agatgtcttc aatagcaaac aacttactat ggtagaaaag
      961 cgaatgctta tgaaatttct tacattttgt gtggaatatg aagaccatcc cgatgagtac
     1021 aaagcatacg aggaaactac attttctgaa tacttaaaaa ctcaaaaatt aacccccaac
     1081 ctacaatatt ttgtcctgca ctcaattgca atgacatcag agacaacaag cagtactgta
     1141 gatggtctca aagctactaa aaagtttctt cagtgtcttg ggcggtatgg caacactcca
     1201 tttctgtttc ctttatatgg ccaaggagaa cttccacagt gtttttgcag aatgtgtgct
     1261 gtgtttggtg gaatctattg tcttcgccat tcagtacagt gccttgtagt ggacaaagaa
     1321 tccagaaaat gtaaagcaat tgtagatcag tttggtcaaa ggataatctc taaacatttc
     1381 gttattgaag acagttacct ttctgagaat acatgttccg gtgtacagta caggcaaatt
     1441 tccagggcag tcctgattac agatggatca gtactaaaac ccgattctga tcaacaggtc
     1501 tccattttga cagtgccagc agaagagtca ggaagttttg ctgttcgagt cattgagtta
     1561 tgctcttcaa caatgacatg catgaaaggc acatacttgg tacatttgac ttgcatgtct
     1621 tctaaaacag caagagaaga tttagaacga gtagtccaga aattgtttac tccatataca
     1681 gaaatcgaag cagaaaatga acaggttgaa aagccaagaa ttctatgggc actctacttc
     1741 aatatgagag actcttcgga tatcagcaga gattgttata atgatttacc gtccaatgtc
     1801 tatgtgtgct ctggccctga ctgtaatcta ggaaatgata atgcagtcca acaggcggaa
     1861 acagttttcc agaaaatctg cccaaatgaa gacttctgtc cagccccacc aaatcctgaa
     1921 gatattattc ttgatggaga cagctcacaa caagaagttt cagaatccag tgtcatacca
     1981 gaaaccaact cagaaactcc caaggaaagt acagtcctag gagactcaga agagccctct
     2041 gaatagtgga tgtgcatcag acataacatt ctatttggaa attcctgtcg ccttcacagt
     2101 cttcttgata gaaggaatat ttgaaatctt tcaaaaagca acaaccaatt tattaggaaa
     2161 aattaggaga aacaggttcc agaaatccaa aaaggaattt tttcaacaag ggcatttcca
     2221 gaaacataaa acacttataa agcacattaa cttacctgtt ttaacatacc aaacctgtga
     2281 gattagcagg tgaaaaatat gaaaggactg attcccagaa atgtagttat gatgggaaag
     2341 gggtcctatg cttcgttaac aattatgtgg tgttcacaga aatttgttcg ccaattgtga
     2401 tctttttgtt gttgttgttg ttgaaagcca catctggaga gtcagctcac atacttattt
     2461 tggttatttg aattatattt tcaatctgag catgatataa cagataaaag catgtgtaaa
     2521 tacggtagaa taaagctaaa ctatcatgaa ctggccagga gcctatattt ggagtaaaag
     2581 ttggttttat ttcctatgtt aaaagctgaa tatgttaata ctaaggtgtt tagacatttt
     2641 gctaatttta atttcttagt aattagtgat ttgtatataa atcacataca caattggcca
     2701 aacttcaaag attaagaaat agaagaatac aagcaaacat ttgataggat gattctactg
     2761 agtcaacgga agcactaagt ccttatccac agaactaatt tcatcatagc tgtgttactc
     2821 aaaatattag gcaaattgtt aaacttatct tcagtttctc cagatatgaa gtgaaacatg
     2881 cctcctataa cagagcagtc ttgaagatca atgcagcact aacattagaa tggttcttct
     2941 ggacattgat ctgtggaaaa atatcaaacc aacctcatga tcacagtgtt atatttattg
     3001 cagtaaattt ttaatgccag tctgtttcct aaactcatta ataacaggtg gaatggtagt
     3061 tcttgaagtc ttaggaatac tttataaatt aacgttcctc ttctggcaac aaaaccatca
     3121 agacctgaac agagtgtagc aattaataac ctgtaatata cattttacat gagaaaaatg
     3181 agggctatcc attgacagaa aacctatttg caatgcctac atttaaatgt ctctaagctc
     3241 tgatggtcta ctttcttgag caatagttta gacctagaac tgcctataaa taaataaaca
     3301 ataaataaac gcaatgcttc ctgtcaggga gccatggctc caaggaaaag cacagaattc
     3361 tccatgtgca gctgcttccc taacctggcc aggtttcagc gatgttaaag ctcccagcac
     3421 agattcataa gaaatgtaaa aatccaagga atgtagctct tgctgaccct tgaagaagga
     3481 gttggattga gaaaatggga aaaatttccc agacttccag gctgttcctc tcaggttgcc
     3541 tgtacctccc gctgtacagc tctctcctct ggggtatcca atccttttta taatgtcaca
     3601 caaatcaggg acagaatcac tttataacct actttgtcac aaagcttcag ctcttatgtc
     3661 agctgttgtt tcctgaagcc cacctagggc atgcactaaa tgccaagtac gctcctgtaa
     3721 tgcaccaggt actggccctg cctctccata ccagcaatat gaaagtttct cttggatggg
     3781 gacgttaagt tggaatacaa tcacagttat gtcacaccag taaaagtgtt atactttgtt
     3841 ataatcttag agttaaggcc tcctaaatgt agaatgcaca tttatctaag gagactatta
     3901 agctagatag ggttagaata attagaagaa ctagacacct ttggacactg cagctctgta
     3961 cattgtagaa caacacagaa actatttttt atttcatggc ccagcgtaca caatatcttt
     4021 ttttcatcct tttggtgcaa tcagaaaaaa aaaaaaaaaa actctcttcc aggtcattta
     4081 ctgagtatat tattaaaatg cttaaagctc ctgaatatga ttaataatga ctgaaatacc
     4141 acaaaattgt tttcaaaatt gtagacagac ctatttcttg ttgcctcaga gtgtcatact
     4201 aaacctttga agagcatttt cttttgtttt cttaattatt gcttaatact tggttttact
     4261 gtattaaggt caaaacaata ccaacaacaa accttaaggt tgtattataa aaccttacaa
     4321 cacaatgttt gctgttttac acaatgcaaa catttcagta attttaaatt ttgaagttgc
     4381 tggtatcaaa atttttttat ttgtttgttg aaagtattta aatatgcatg cctgtttctg
     4441 gaaacgaaaa atggtatatc attaagtgat aagatccaat aactaatcct atgttgcttt
     4501 tgtatatttt tctagttggt gtgcctgtct aagaaagcat atataataaa tgtcagtttc
     4561 tatttttata taataaaatg gccatgggta acttctagac tagtggacat ttctaacata
     4621 atatctataa ttataatgtt aattaataat tattaacttc tggcaagatt gtttctagaa
     4681 ttatctgccc tagtattgtt atctagttcc taatagtagc aatcatttaa aggaatttaa
     4741 aaaaacattt tcttgcaaat acttatgtgc tactggtatt gaataatttg tcttttgctc
     4801 agtaaaagtt cttacgtatt taaaaaggca tgagtctata ataatttgca tactgtaaca
     4861 gggaattttc agagaaaata aagacttttc aatgctt
//
