LOCUS       NM_018818               4867 bp    mRNA    linear   ROD 20-SEP-2024
DEFINITION  Mus musculus CHM Rab escort protein (Chm), transcript variant 1,
            mRNA.
ACCESSION   NM_018818 XM_909568
VERSION     NM_018818.2
KEYWORDS    RefSeq; RefSeq Select.
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 4867)
  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 4867)
  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 4867)
  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 4867)
  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 4867)
  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 4867)
  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 4867)
  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 4867)
  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 4867)
  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 4867)
  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
            AK021238.1, AK141830.1, AK035956.1 and AL669958.14.
            
            On Jul 26, 2006 this sequence version replaced NM_018818.1.
            
            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##
            RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-6                 AK021238.1         4-9
            7-755               AK141830.1         2-750
            756-872             AK035956.1         751-867
            873-2068            AK141830.1         751-1946
            2069-4867           AL669958.14        15796-18594         c
FEATURES             Location/Qualifiers
     source          1..4867
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="X"
                     /map="X 48.94 cM"
     gene            1..4867
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /note="CHM Rab escort protein"
                     /db_xref="GeneID:12662"
                     /db_xref="MGI:MGI:892979"
     exon            1..75
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             27..2015
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /note="isoform 1 is encoded by transcript variant 1; 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 1"
                     /protein_id="NP_061288.2"
                     /db_xref="CCDS:CCDS41107.1"
                     /db_xref="GeneID:12662"
                     /db_xref="MGI:MGI:892979"
                     /translation="MADNLPSDFDVIVIGTGLPESIIAAACSRSGQRVLHVDSRSYYG
                     GNWASFSFSGLLSWLKEYQENSDVVTENSMWQEQILENEEAILLSSKDKTIQHVEVFC
                     YASQDLHKDVEEAGALQKNPASVMSAQATEAAEAAEAAEAAEATEAAEAACLPTAEES
                     LSTRSCELPAEQSQCTGPESSPQVNDAEVGEKETQSDAKSSTEQSSEILPKVQDNTET
                     PKRNVITYSQIIKEGRRFNIDLVSKLLYSRGLLIDLLIKSNVSRYAEFKNITRILAFR
                     EGTVEQVPCSRADVFNSKQLTMVEKRMLMKFLTFCVEYEDHPDEYKAYEETTFSEYLK
                     TQKLTPNLQYFVLHSIAMTSETTSSTVDGLKATKKFLQCLGRYGNTPFLFPLYGQGEL
                     PQCFCRMCAVFGGIYCLRHSVQCLVVDKESRKCKAIVDQFGQRIISKHFVIEDSYLSE
                     NTCSGVQYRQISRAVLITDGSVLKPDSDQQVSILTVPAEESGSFAVRVIELCSSTMTC
                     MKGTYLVHLTCMSSKTAREDLERVVQKLFTPYTEIEAENEQVEKPRILWALYFNMRDS
                     SDISRDCYNDLPSNVYVCSGPDCNLGNDNAVQQAETVFQKICPNEDFCPAPPNPEDII
                     LDGDSSQQEVSESSVIPETNSETPKESTVLGDSEEPSE"
     exon            76..142
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            143..215
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            216..340
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            341..755
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            756..872
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            873..993
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            994..1219
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1220..1297
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1298..1402
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1403..1466
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1467..1563
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1564..1662
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1663..1823
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1824..4867
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4846..4851
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /note="hexamer: AATAAA"
     polyA_site      4866
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /note="major polyA site"
ORIGIN      
        1 agtcacatga cacgtttcct gtcaagatgg cggataatct cccttcggac tttgatgtga
       61 tcgtaatagg gacgggtctg cctgaatcca tcattgcagc tgcatgttca aggagtggcc
      121 agagggttct gcatgttgat tcaagaagct actatggagg aaactgggcc agtttcagct
      181 tttcaggact gttgtcctgg ctaaaggaat accaggaaaa tagtgatgtt gtgactgaaa
      241 attcaatgtg gcaagaacag atacttgaaa acgaagaagc tattcttctt agtagcaagg
      301 acaaaacaat tcaacatgta gaagtatttt gttatgccag tcaggatttg cacaaagatg
      361 ttgaagaagc tggtgcactg cagaaaaatc ctgcttcagt gatgtccgca caggccacag
      421 aggccgcaga ggctgcagag gccgcagagg ctgcagaggc cacagaggct gcagaggccg
      481 cttgccttcc tactgcagag gagtccttaa gcacgaggag ctgtgaacta cctgcagaac
      541 aaagtcagtg cacggggcca gagagttcac cacaagtaaa tgatgctgaa gtaggagaga
      601 aagaaactca gagtgatgca aaaagttcaa cagaacaatc aagtgaaatt ttgcctaaag
      661 tacaagacaa cacagagaca ccaaagagaa atgtaattac ttactcacag attattaaag
      721 aaggccgaag atttaacatt gatttagtat caaaacttct ctattctcgg ggattactaa
      781 ttgatcttct aatcaaatca aatgttagtc ggtatgcaga gtttaaaaac attacgagga
      841 ttcttgcatt tcgagaagga actgtggaac aggtcccctg ttccagagca gatgtcttca
      901 atagcaaaca acttactatg gtagaaaagc gaatgcttat gaaatttctt acattttgtg
      961 tggaatatga agaccatccc gatgagtaca aagcatacga ggaaactaca ttttctgaat
     1021 acttaaaaac tcaaaaatta acccccaacc tacaatattt tgtcctgcac tcaattgcaa
     1081 tgacatcaga gacaacaagc agtactgtag atggtctcaa agctactaaa aagtttcttc
     1141 agtgtcttgg gcggtatggc aacactccat ttctgtttcc tttatatggc caaggagaac
     1201 ttccacagtg tttttgcaga atgtgtgctg tgtttggtgg aatctattgt cttcgccatt
     1261 cagtacagtg ccttgtagtg gacaaagaat ccagaaaatg taaagcaatt gtagatcagt
     1321 ttggtcaaag gataatctct aaacatttcg ttattgaaga cagttacctt tctgagaata
     1381 catgttccgg tgtacagtac aggcaaattt ccagggcagt cctgattaca gatggatcag
     1441 tactaaaacc cgattctgat caacaggtct ccattttgac agtgccagca gaagagtcag
     1501 gaagttttgc tgttcgagtc attgagttat gctcttcaac aatgacatgc atgaaaggca
     1561 catacttggt acatttgact tgcatgtctt ctaaaacagc aagagaagat ttagaacgag
     1621 tagtccagaa attgtttact ccatatacag aaatcgaagc agaaaatgaa caggttgaaa
     1681 agccaagaat tctatgggca ctctacttca atatgagaga ctcttcggat atcagcagag
     1741 attgttataa tgatttaccg tccaatgtct atgtgtgctc tggccctgac tgtaatctag
     1801 gaaatgataa tgcagtccaa caggcggaaa cagttttcca gaaaatctgc ccaaatgaag
     1861 acttctgtcc agccccacca aatcctgaag atattattct tgatggagac agctcacaac
     1921 aagaagtttc agaatccagt gtcataccag aaaccaactc agaaactccc aaggaaagta
     1981 cagtcctagg agactcagaa gagccctctg aatagtggat gtgcatcaga cataacattc
     2041 tatttggaaa ttcctgtcgc cttcacagtc ttcttgatag aaggaatatt tgaaatcttt
     2101 caaaaagcaa caaccaattt attaggaaaa attaggagaa acaggttcca gaaatccaaa
     2161 aaggaatttt ttcaacaagg gcatttccag aaacataaaa cacttataaa gcacattaac
     2221 ttacctgttt taacatacca aacctgtgag attagcaggt gaaaaatatg aaaggactga
     2281 ttcccagaaa tgtagttatg atgggaaagg ggtcctatgc ttcgttaaca attatgtggt
     2341 gttcacagaa atttgttcgc caattgtgat ctttttgttg ttgttgttgt tgaaagccac
     2401 atctggagag tcagctcaca tacttatttt ggttatttga attatatttt caatctgagc
     2461 atgatataac agataaaagc atgtgtaaat acggtagaat aaagctaaac tatcatgaac
     2521 tggccaggag cctatatttg gagtaaaagt tggttttatt tcctatgtta aaagctgaat
     2581 atgttaatac taaggtgttt agacattttg ctaattttaa tttcttagta attagtgatt
     2641 tgtatataaa tcacatacac aattggccaa acttcaaaga ttaagaaata gaagaataca
     2701 agcaaacatt tgataggatg attctactga gtcaacggaa gcactaagtc cttatccaca
     2761 gaactaattt catcatagct gtgttactca aaatattagg caaattgtta aacttatctt
     2821 cagtttctcc agatatgaag tgaaacatgc ctcctataac agagcagtct tgaagatcaa
     2881 tgcagcacta acattagaat ggttcttctg gacattgatc tgtggaaaaa tatcaaacca
     2941 acctcatgat cacagtgtta tatttattgc agtaaatttt taatgccagt ctgtttccta
     3001 aactcattaa taacaggtgg aatggtagtt cttgaagtct taggaatact ttataaatta
     3061 acgttcctct tctggcaaca aaaccatcaa gacctgaaca gagtgtagca attaataacc
     3121 tgtaatatac attttacatg agaaaaatga gggctatcca ttgacagaaa acctatttgc
     3181 aatgcctaca tttaaatgtc tctaagctct gatggtctac tttcttgagc aatagtttag
     3241 acctagaact gcctataaat aaataaacaa taaataaacg caatgcttcc tgtcagggag
     3301 ccatggctcc aaggaaaagc acagaattct ccatgtgcag ctgcttccct aacctggcca
     3361 ggtttcagcg atgttaaagc tcccagcaca gattcataag aaatgtaaaa atccaaggaa
     3421 tgtagctctt gctgaccctt gaagaaggag ttggattgag aaaatgggaa aaatttccca
     3481 gacttccagg ctgttcctct caggttgcct gtacctcccg ctgtacagct ctctcctctg
     3541 gggtatccaa tcctttttat aatgtcacac aaatcaggga cagaatcact ttataaccta
     3601 ctttgtcaca aagcttcagc tcttatgtca gctgttgttt cctgaagccc acctagggca
     3661 tgcactaaat gccaagtacg ctcctgtaat gcaccaggta ctggccctgc ctctccatac
     3721 cagcaatatg aaagtttctc ttggatgggg acgttaagtt ggaatacaat cacagttatg
     3781 tcacaccagt aaaagtgtta tactttgtta taatcttaga gttaaggcct cctaaatgta
     3841 gaatgcacat ttatctaagg agactattaa gctagatagg gttagaataa ttagaagaac
     3901 tagacacctt tggacactgc agctctgtac attgtagaac aacacagaaa ctatttttta
     3961 tttcatggcc cagcgtacac aatatctttt tttcatcctt ttggtgcaat cagaaaaaaa
     4021 aaaaaaaaaa ctctcttcca ggtcatttac tgagtatatt attaaaatgc ttaaagctcc
     4081 tgaatatgat taataatgac tgaaatacca caaaattgtt ttcaaaattg tagacagacc
     4141 tatttcttgt tgcctcagag tgtcatacta aacctttgaa gagcattttc ttttgttttc
     4201 ttaattattg cttaatactt ggttttactg tattaaggtc aaaacaatac caacaacaaa
     4261 ccttaaggtt gtattataaa accttacaac acaatgtttg ctgttttaca caatgcaaac
     4321 atttcagtaa ttttaaattt tgaagttgct ggtatcaaaa tttttttatt tgtttgttga
     4381 aagtatttaa atatgcatgc ctgtttctgg aaacgaaaaa tggtatatca ttaagtgata
     4441 agatccaata actaatccta tgttgctttt gtatattttt ctagttggtg tgcctgtcta
     4501 agaaagcata tataataaat gtcagtttct atttttatat aataaaatgg ccatgggtaa
     4561 cttctagact agtggacatt tctaacataa tatctataat tataatgtta attaataatt
     4621 attaacttct ggcaagattg tttctagaat tatctgccct agtattgtta tctagttcct
     4681 aatagtagca atcatttaaa ggaatttaaa aaaacatttt cttgcaaata cttatgtgct
     4741 actggtattg aataatttgt cttttgctca gtaaaagttc ttacgtattt aaaaaggcat
     4801 gagtctataa taatttgcat actgtaacag ggaattttca gagaaaataa agacttttca
     4861 atgcttt
//
