LOCUS       NM_000390               5438 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens CHM Rab escort protein (CHM), transcript variant 1,
            mRNA.
ACCESSION   NM_000390
VERSION     NM_000390.4
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 5438)
  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
  REMARK    GeneRIF: Loss of REP1 impacts choroidal melanogenesis and
            vasculogenesis in choroideremia.
REFERENCE   2  (bases 1 to 5438)
  AUTHORS   Iwagawa,T., Masumoto,H., Tabuchi,H., Tani,K., Conklin,B.R. and
            Watanabe,S.
  TITLE     Evaluation of CRISPR/Cas9 exon-skipping vector for choroideremia
            using human induced pluripotent stem cell-derived RPE
  JOURNAL   J Gene Med 25 (2), e3464 (2023)
   PUBMED   36413603
  REMARK    GeneRIF: Evaluation of CRISPR/Cas9 exon-skipping vector for
            choroideremia using human induced pluripotent stem cell-derived
            RPE.
REFERENCE   3  (bases 1 to 5438)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   4  (bases 1 to 5438)
  AUTHORS   Fioretti,T., Di Iorio,V., Lombardo,B., De Falco,F., Cevenini,A.,
            Cattaneo,F., Testa,F., Pastore,L., Simonelli,F. and Esposito,G.
  TITLE     Molecular Characterization of Choroideremia-Associated Deletions
            Reveals an Unexpected Regulation of CHM Gene Transcription
  JOURNAL   Genes (Basel) 12 (8), 1111 (2021)
   PUBMED   34440285
  REMARK    GeneRIF: Molecular Characterization of Choroideremia-Associated
            Deletions Reveals an Unexpected Regulation of CHM Gene
            Transcription.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5438)
  AUTHORS   van Bokhoven,H., van den Hurk,J.A., Bogerd,L., Philippe,C.,
            Gilgenkrantz,S., de Jong,P., Ropers,H.H. and Cremers,F.P.
  TITLE     Cloning and characterization of the human choroideremia gene
  JOURNAL   Hum Mol Genet 3 (7), 1041-1046 (1994)
   PUBMED   7981670
REFERENCE   6  (bases 1 to 5438)
  AUTHORS   MacDonald,I.M., Hume,S., Zhai,Y. and Xu,M.
  TITLE     Choroideremia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301511
REFERENCE   7  (bases 1 to 5438)
  AUTHORS   van den Hurk,J.A., van de Pol,T.J., Molloy,C.M., Brunsmann,F.,
            Ruther,K., Zrenner,E., Pinckers,A.J., Pawlowitzki,I.H.,
            Bleeker-Wagemakers,E.M., Wieringa,B. et al.
  TITLE     Detection and characterization of point mutations in the
            choroideremia candidate gene by PCR-SSCP analysis and direct DNA
            sequencing
  JOURNAL   Am J Hum Genet 50 (6), 1195-1202 (1992)
   PUBMED   1598901
REFERENCE   8  (bases 1 to 5438)
  AUTHORS   Sankila,E.M., Tolvanen,R., van den Hurk,J.A., Cremers,F.P. and de
            la Chapelle,A.
  TITLE     Aberrant splicing of the CHM gene is a significant cause of
            choroideremia
  JOURNAL   Nat Genet 1 (2), 109-113 (1992)
   PUBMED   1302003
REFERENCE   9  (bases 1 to 5438)
  AUTHORS   Molloy,C.M., van de Pol,T.J., Brohet,R.M., Ropers,H.H. and
            Cremers,F.P.
  TITLE     Three RFLPs for pZ11 (DXS540) in the choroideremia gene at Xq21.2
  JOURNAL   Nucleic Acids Res 20 (6), 1434 (1992)
   PUBMED   1373238
REFERENCE   10 (bases 1 to 5438)
  AUTHORS   Merry,D.E., Janne,P.A., Landers,J.E., Lewis,R.A. and Nussbaum,R.L.
  TITLE     Isolation of a candidate gene for choroideremia
  JOURNAL   Proc Natl Acad Sci U S A 89 (6), 2135-2139 (1992)
   PUBMED   1549574
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X78121.1, AK291160.1,
            AL022401.2 and BU688880.1.
            
            On Nov 23, 2018 this sequence version replaced NM_000390.3.
            
            Summary: This gene encodes component A of the RAB geranylgeranyl
            transferase holoenzyme. In the dimeric holoenzyme, this subunit
            binds unprenylated Rab GTPases and then presents them to the
            catalytic Rab GGTase subunit for the geranylgeranyl transfer
            reaction. Rab GTPases need to be geranylgeranyled on either one or
            two cysteine residues in their C-terminus to localize to the
            correct intracellular membrane. Mutations in this gene are a cause
            of choroideremia; also known as tapetochoroidal dystrophy (TCD).
            This X-linked disease is characterized by progressive dystrophy of
            the choroid, retinal pigment epithelium and retina. Alternatively
            spliced transcript variants have been found for this gene.
            [provided by RefSeq, Mar 2016].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript and encodes the longest isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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 :: SRR14038194.341389.1,
                                           SRR14038191.932767.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000357749.7/ ENSP00000350386.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2111              X78121.1           5-2115
            2112-2443           AK291160.1         2108-2439
            2444-4728           AL022401.2         154961-157245       c
            4729-5438           BU688880.1         18-727              c
FEATURES             Location/Qualifiers
     source          1..5438
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq21.2"
     gene            1..5438
                     /gene="CHM"
                     /gene_synonym="DXS540; GGTA; HSD-32; REP-1; TCD"
                     /note="CHM Rab escort protein"
                     /db_xref="GeneID:1121"
                     /db_xref="HGNC:HGNC:1940"
                     /db_xref="MIM:300390"
     exon            1..75
                     /gene="CHM"
                     /gene_synonym="DXS540; GGTA; HSD-32; REP-1; TCD"
                     /inference="alignment:Splign:2.1.0"
     CDS             27..1988
                     /gene="CHM"
                     /gene_synonym="DXS540; GGTA; HSD-32; REP-1; TCD"
                     /note="isoform a is encoded by transcript variant 1; rab
                     proteins geranylgeranyltransferase component A 1;
                     choroideremia (Rab escort protein 1); CHM, Rab escort
                     protein 1"
                     /codon_start=1
                     /product="rab proteins geranylgeranyltransferase component
                     A 1 isoform a"
                     /protein_id="NP_000381.1"
                     /db_xref="CCDS:CCDS14454.1"
                     /db_xref="GeneID:1121"
                     /db_xref="HGNC:HGNC:1940"
                     /db_xref="MIM:300390"
                     /translation="MADTLPSEFDVIVIGTGLPESIIAAACSRSGRRVLHVDSRSYYG
                     GNWASFSFSGLLSWLKEYQENSDIVSDSPVWQDQILENEEAIALSRKDKTIQHVEVFC
                     YASQDLHEDVEEAGALQKNHALVTSANSTEAADSAFLPTEDESLSTMSCEMLTEQTPS
                     SDPENALEVNGAEVTGEKENHCDDKTCVPSTSAEDMSENVPIAEDTTEQPKKNRITYS
                     QIIKEGRRFNIDLVSKLLYSRGLLIDLLIKSNVSRYAEFKNITRILAFREGRVEQVPC
                     SRADVFNSKQLTMVEKRMLMKFLTFCMEYEKYPDEYKGYEEITFYEYLKTQKLTPNLQ
                     YIVMHSIAMTSETASSTIDGLKATKNFLHCLGRYGNTPFLFPLYGQGELPQCFCRMCA
                     VFGGIYCLRHSVQCLVVDKESRKCKAIIDQFGQRIISEHFLVEDSYFPENMCSRVQYR
                     QISRAVLITDRSVLKTDSDQQISILTVPAEEPGTFAVRVIELCSSTMTCMKGTYLVHL
                     TCTSSKTAREDLESVVQKLFVPYTEMEIENEQVEKPRILWALYFNMRDSSDISRSCYN
                     DLPSNVYVCSGPDCGLGNDNAVKQAETLFQEICPNEDFCPPPPNPEDIILDGDSLQPE
                     ASESSAIPEANSETFKESTNLGNLEESSE"
     exon            76..142
                     /gene="CHM"
                     /gene_synonym="DXS540; GGTA; HSD-32; REP-1; TCD"
                     /inference="alignment:Splign:2.1.0"
     exon            143..215
                     /gene="CHM"
                     /gene_synonym="DXS540; GGTA; HSD-32; REP-1; TCD"
                     /inference="alignment:Splign:2.1.0"
     exon            216..340
                     /gene="CHM"
                     /gene_synonym="DXS540; GGTA; HSD-32; REP-1; TCD"
                     /inference="alignment:Splign:2.1.0"
     exon            341..728
                     /gene="CHM"
                     /gene_synonym="DXS540; GGTA; HSD-32; REP-1; TCD"
                     /inference="alignment:Splign:2.1.0"
     exon            729..845
                     /gene="CHM"
                     /gene_synonym="DXS540; GGTA; HSD-32; REP-1; TCD"
                     /inference="alignment:Splign:2.1.0"
     exon            846..966
                     /gene="CHM"
                     /gene_synonym="DXS540; GGTA; HSD-32; REP-1; TCD"
                     /inference="alignment:Splign:2.1.0"
     exon            967..1192
                     /gene="CHM"
                     /gene_synonym="DXS540; GGTA; HSD-32; REP-1; TCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1193..1270
                     /gene="CHM"
                     /gene_synonym="DXS540; GGTA; HSD-32; REP-1; TCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1271..1375
                     /gene="CHM"
                     /gene_synonym="DXS540; GGTA; HSD-32; REP-1; TCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1376..1439
                     /gene="CHM"
                     /gene_synonym="DXS540; GGTA; HSD-32; REP-1; TCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1440..1536
                     /gene="CHM"
                     /gene_synonym="DXS540; GGTA; HSD-32; REP-1; TCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1537..1635
                     /gene="CHM"
                     /gene_synonym="DXS540; GGTA; HSD-32; REP-1; TCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1636..1796
                     /gene="CHM"
                     /gene_synonym="DXS540; GGTA; HSD-32; REP-1; TCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1797..5438
                     /gene="CHM"
                     /gene_synonym="DXS540; GGTA; HSD-32; REP-1; TCD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5414..5419
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHM"
                     /gene_synonym="DXS540; GGTA; HSD-32; REP-1; TCD"
                     /note="hexamer: AATAAA"
     polyA_site      5438
                     /gene="CHM"
                     /gene_synonym="DXS540; GGTA; HSD-32; REP-1; TCD"
                     /note="major polyA site"
ORIGIN      
        1 agtcacatga cacgtttccc gtcaagatgg cggatactct cccttcggag tttgatgtga
       61 tcgtaatagg gacgggtttg cctgaatcca tcattgcagc tgcatgttca agaagtggcc
      121 ggagagttct gcatgttgat tcaagaagct actatggagg aaactgggcc agttttagct
      181 tttcaggact attgtcctgg ctaaaggaat accaggaaaa cagtgacatt gtaagtgaca
      241 gtccagtgtg gcaagaccag atccttgaaa atgaagaagc cattgctctt agcaggaagg
      301 acaaaactat tcaacatgtg gaagtatttt gttatgccag tcaggatttg catgaagatg
      361 tcgaagaagc tggtgcactg cagaaaaatc atgctcttgt gacatctgca aactccacag
      421 aagctgcaga ttctgccttc ctgcctacgg aggatgagtc attaagcact atgagctgtg
      481 aaatgctcac agaacaaact ccaagcagcg atccagagaa tgcgctagaa gtaaatggtg
      541 ctgaagtgac aggggaaaaa gaaaaccatt gtgatgataa aacttgtgtg ccatcaactt
      601 cagcagaaga catgagtgaa aatgtgccta tagcagaaga taccacagag caaccaaaga
      661 aaaacagaat tacttactca caaattatta aagaaggcag gagatttaat attgatttag
      721 tatcaaagct gctgtattct cgaggattac taattgatct tctaatcaaa tctaatgtta
      781 gtcgatatgc agagtttaaa aatattacca ggattcttgc atttcgagaa ggacgagtgg
      841 aacaggttcc gtgttccaga gcagatgtct ttaatagcaa acaacttact atggtagaaa
      901 agcgaatgct aatgaaattt cttacatttt gtatggaata tgagaaatat cctgatgaat
      961 ataaaggata tgaagagatc acattttatg aatatttaaa gactcaaaaa ttaaccccca
     1021 acctccaata tattgtcatg cattcaattg caatgacatc agagacagcc agcagcacca
     1081 tagatggtct caaagctacc aaaaactttc ttcactgtct tgggcggtat ggcaacactc
     1141 catttttgtt tcctttatat ggccaaggag aactccccca gtgtttctgc aggatgtgtg
     1201 ctgtgtttgg tggaatttat tgtcttcgcc attcagtaca gtgccttgta gtggacaaag
     1261 aatccagaaa atgtaaagca attatagatc agtttggtca gagaataatc tctgagcatt
     1321 tcctcgtgga ggacagttac tttcctgaga acatgtgctc acgtgtgcaa tacaggcaga
     1381 tctccagggc agtgctgatt acagatagat ctgtcctaaa aacagattca gatcaacaga
     1441 tttccatttt gacagtgcca gcagaggaac caggaacttt tgctgttcgg gtcattgagt
     1501 tatgttcttc aacgatgaca tgcatgaaag gcacctattt ggttcatttg acttgcacat
     1561 cttctaaaac agcaagagaa gatttagaat cagttgtgca gaaattgttt gttccatata
     1621 ctgaaatgga gatagaaaat gaacaagtag aaaagccaag aattctgtgg gctctttact
     1681 tcaatatgag agattcgtca gacatcagca ggagctgtta taatgattta ccatccaacg
     1741 tttatgtctg ctctggccca gattgtggtt taggaaatga taatgcagtc aaacaggctg
     1801 aaacactttt ccaggaaatc tgccccaatg aagatttctg tccccctcca ccaaatcctg
     1861 aagacattat ccttgatgga gacagtttac agccagaggc ttcagaatcc agtgccatac
     1921 cagaggctaa ctcggagact ttcaaggaaa gcacaaacct tggaaaccta gaggagtcct
     1981 ctgaataatg gatatacacc aaactggata cccaactttg gaaattctga ctggtctcag
     2041 agtctacttg atagaaggac tgtttgagaa atgttagaaa gcagcagcaa ttataaggca
     2101 aaataggtaa tagaaatcca aaaggggatt ttccttatag aggacattcc aagaacacac
     2161 aacacttata aagcacattg acttgctcat tttaaatacc aaacttgtgt gactagcaga
     2221 tgaaaattat aaatcaattg attctcagga atgtaactgt ggatatgaaa gtgatcctat
     2281 gcattgttaa taattccatg gtcttaggac aattttgctt accactttgg atctttgttt
     2341 gaaagccaca ttttcagaac cagctcatgt attttctttg gttatttgaa ttttattttc
     2401 tttatggaca agagcatcat aacataatga taaaaacata tagaaaaact aaagtatcat
     2461 gatctagata gaagcctgta tttggaatac aggtttgttt tgctttctat gttgagaagc
     2521 attgaaaatg ctaatataaa ggtgtttaga catttttacg aataagtcag tagtgttttt
     2581 tagtatcagt agtgatattt gtttgtaaat tatttacata ttgggaaagg tcaataatga
     2641 agaaatgaaa gaatggaagg aaaggtgtgg ataggctcat tggtatttga atattctgtc
     2701 tgtcaagtaa ctagagtatt aggctaattg tctacagacc taatttaatc ctggctgtcc
     2761 tactgatgat atttggtaaa ttgtttaact tctgagccta cgtttctcca tatataaagt
     2821 ggaaatagta ttactatgcc tactatatga gaatggttat gaagacaatg caatgccatg
     2881 tttagaatcg gtttgccaga agaaaattgt tttagaattt tcccattgac ttgatgaatc
     2941 tcaaaagtct cacgcaggaa ataattgctt gctgtcagtc aacttccaaa caaaatagat
     3001 cacagtgttt ttattgcatt aagcttttta aatgaaaatt tcttttttaa agtagtattt
     3061 tatagtctta cagaccagta aaaatagtaa caagtagaat tgtggttttg aaatattact
     3121 aaggaaaaca ctctataaat tgttttattc cttttctggt aggtaaacct gcaaccacca
     3181 aggactccaa attgtgtatg acagttggta agccctaata tacactacat aaaaacgtta
     3241 gggctgcctg taatcccagc actttgggaa gctgaggtgg gtagatcact tgaggtcagg
     3301 agttcgagac cagcctggcc aacatggcga aaccctgtct ctactaaaaa tacaaaattt
     3361 tagctgggtg ttatggtggg cacctgtaat cccagctact ttgaagatga ggtagcagac
     3421 tcacttgaac cagggaggcg gaggttgcag tgagccaaga ttttgccact gcactccagc
     3481 ctgggtgaca gagcaagact ctgtctcaca aaaaaaaaaa aagggggctg tacataggca
     3541 gcaaactaag ctgcagtgat gttgcctata tttaaatttt ctcaaatggc caagctctga
     3601 tggtctactt tatttgagca atagttgaga cttataattg cctataaata aacaaacaaa
     3661 tgaactattt gttttttttt ctcacaacat ctggcctata ttgtctgtca ggaagccatg
     3721 gctccaatgt aaagtacata gttcttacat acttcaactg cagctggtcc ctgacctcac
     3781 caggtttcag agatgttctt aaaggaagcc agctgtggca ggtcacagat tcatgggaaa
     3841 tggaaagaac caaggaatat agctcttgcc tcacctttct acccactgca gatatagttc
     3901 aagccagagt aatggaagaa cttaacttac tagcctctca ggctgctcct atccctacct
     3961 cccagtgtac agcccctccc catctcttta gtcccctttc cctcacttcc ccttttataa
     4021 tgtcacacaa atcagggaca gtaggatcac attataacct actttgtcat agggattcga
     4081 tttttcttat atcaaatcat gtttcctgaa acccagctgg ggcatatgca ctcaatgtct
     4141 aatacatact tattaatgta ccggatattg gccttgcccc tggatatcag caatatatta
     4201 taaaaggttc cagtagatga gacgattgag tctgaataca attgcagtaa attgtgccaa
     4261 taaagatatt gtactgttac ggtcttagag ttaaagccgc ttgaatgcag catgcacatt
     4321 catgtaaaca gacaatcagg gtaggcctag aataaccaca aaaattctat tggccttact
     4381 gcagccacct atatgtagaa caatggagga gatagtttgt ggtccattat tgtaccctgt
     4441 ttcatccatt agcatcagaa tctctctttc aggtcattta ttaaatatga ttgaaatgtt
     4501 taaaagttcc tgaacatgat tcatgatgat taaaatatca tacaactgat aaaagacttt
     4561 aagaacttta tatatttcct gttgcctcaa aatgtaacag aaattattct tagagctttg
     4621 attttagcta tcctaattac tgcaaataaa tatttgttct tatagtttta aatcaaaaag
     4681 aaaagtcttg ttataaaacc ttaagcttga aatcatatta ataaaatata ttgtacatag
     4741 tggaaaattt tcagtagcta atttaaaatt tcagaaaatg ctattaaaga attttgattc
     4801 aagtatttaa actgtttagt tatgcatgct tcttattaac cgaaaatgat aataccattt
     4861 agtttagtga tcagtatgag aagcaatacc taatcctatg ttgctattgt attttttcct
     4921 agttggtgtg cctgctcaga aaaacatata ctgtatgtgt atacatacct gtgtatatat
     4981 aaaaggtcaa tttatatatt tttctatagg aaaatggagt aacaagttcc ctatctccca
     5041 tatttatttg tccatagtaa aatggccaca ttgatgataa tttctagaac tagtttctga
     5101 gattgtcagc cctttgtcta aaataatggc agtattaatg attgacttct gtcactgcca
     5161 tagttacctg gattgtcagc cttggtagcc tttgtctaaa gtcctaaaga gttccaaaaa
     5221 aaatgtgttg aaatttaatt gctaaatagt ggttggtgat tctttacagt aggaattgta
     5281 ataattttct tgcaaataag ttatttactg ctattgatat tgaataattt gtcttttatt
     5341 cagatatatt tcaaaaagca tgaatatatg attattcata aattgtatac tttaccagta
     5401 agttttcaga ggaaataaag acttttaaat ccttttca
//
