LOCUS       NM_018972               3645 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens ganglioside induced differentiation associated protein
            1 (GDAP1), transcript variant 1, mRNA.
ACCESSION   NM_018972
VERSION     NM_018972.4
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 3645)
  AUTHORS   Li,Z., Zeng,S., Xie,Y., Li,X., Huang,S., Zhao,H., Cao,W., Liu,L.,
            Wang,M., Gong,Q., Liu,J., Rong,P. and Zhang,R.
  TITLE     Genetic and clinical profile of 15 Chinese families with
            GDAP1-related Charcot-Marie-Tooth disease and identification of
            H256R as a frequent mutation
  JOURNAL   J Peripher Nerv Syst 29 (2), 232-242 (2024)
   PUBMED   38705839
  REMARK    GeneRIF: Genetic and clinical profile of 15 Chinese families with
            GDAP1-related Charcot-Marie-Tooth disease and identification of
            H256R as a frequent mutation.
REFERENCE   2  (bases 1 to 3645)
  AUTHORS   Asif,M., Chiou,C.C., Hussain,M.F., Hussain,M., Sajid,Z.,
            Gulsher,M., Raheem,A., Khan,A., Nasreen,N., Kloczkowski,A.,
            Hassan,M., Iqbal,F. and Chen,C.C.
  TITLE     Homozygous Mutations in GDAP1 and MFN2 Genes Resulted in Autosomal
            Recessive Forms of Charcot-Marie-Tooth Disease in Consanguineous
            Pakistani Families
  JOURNAL   DNA Cell Biol 42 (11), 697-708 (2023)
   PUBMED   37797217
  REMARK    GeneRIF: Homozygous Mutations in GDAP1 and MFN2 Genes Resulted in
            Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in
            Consanguineous Pakistani Families.
REFERENCE   3  (bases 1 to 3645)
  AUTHORS   Cantarero,L., Garcia-Vargas,G., Hoenicka,J. and Palau,F.
  TITLE     Differential effects of Mendelian GDAP1 clinical variants on
            mitochondria-lysosome membrane contacts sites
  JOURNAL   Biol Open 12 (4) (2023)
   PUBMED   36912213
  REMARK    GeneRIF: Differential effects of Mendelian GDAP1 clinical variants
            on mitochondria-lysosome membrane contacts sites.
REFERENCE   4  (bases 1 to 3645)
  AUTHORS   Liu,H., Nakagawa,T., Kanematsu,T., Uchida,T. and Tsuji,S.
  TITLE     Isolation of 10 differentially expressed cDNAs in differentiated
            Neuro2a cells induced through controlled expression of the GD3
            synthase gene
  JOURNAL   J Neurochem 72 (5), 1781-1790 (1999)
   PUBMED   10217254
REFERENCE   5  (bases 1 to 3645)
  AUTHORS   Ben Othmane,K., Hentati,F., Lennon,F., Ben Hamida,C., Blel,S.,
            Roses,A.D., Pericak-Vance,M.A., Ben Hamida,M. and Vance,J.M.
  TITLE     Linkage of a locus (CMT4A) for autosomal recessive
            Charcot-Marie-Tooth disease to chromosome 8q
  JOURNAL   Hum Mol Genet 2 (10), 1625-1628 (1993)
   PUBMED   8268915
REFERENCE   6  (bases 1 to 3645)
  AUTHORS   Bird,T.D.
  TITLE     GDAP1-Related Hereditary Motor and Sensory Neuropathy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301711
REFERENCE   7  (bases 1 to 3645)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 4 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301641
REFERENCE   8  (bases 1 to 3645)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Hereditary Neuropathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301532
REFERENCE   9  (bases 1 to 3645)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 2 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301462
REFERENCE   10 (bases 1 to 3645)
  AUTHORS   Gauldie,J., Bhandari,S.C. and Singal,D.P.
  TITLE     Alteration of the HL-A antigenic site in situ
  JOURNAL   Immunol Commun 4 (5), 465-476 (1975)
   PUBMED   54332
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB505741.1, AC103952.5,
            AK292572.1, Y17849.1 and AW016619.1.
            
            On May 17, 2019 this sequence version replaced NM_018972.3.
            
            Summary: This gene encodes a member of the ganglioside-induced
            differentiation-associated protein family, which may play a role in
            a signal transduction pathway during neuronal development.
            Mutations in this gene have been associated with various forms of
            Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants
            encoding different isoforms and a noncoding variant have been
            identified for this gene. [provided by RefSeq, Feb 2012].
            
            Transcript Variant: This variant (1) represents the longest variant
            and encodes the longer 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 :: SRR1660807.141881.1,
                                           SRR1803611.211755.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000220822.12/ ENSP00000220822.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-59                DB505741.1         21-79
            60-133              AC103952.5         22138-22211
            134-160             AK292572.1         93-119
            161-176             Y17849.1           109-124
            177-369             AC103952.5         22950-23142
            370-543             AC103952.5         31813-31986
            544-638             AC103952.5         33560-33654
            639-753             AC103952.5         34615-34729
            754-3350            AC103952.5         35661-38257
            3351-3645           AW016619.1         15-309              c
FEATURES             Location/Qualifiers
     source          1..3645
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q21.11"
     gene            1..3645
                     /gene="GDAP1"
                     /gene_synonym="CMT4; CMT4A; CMTRIA"
                     /note="ganglioside induced differentiation associated
                     protein 1"
                     /db_xref="GeneID:54332"
                     /db_xref="HGNC:HGNC:15968"
                     /db_xref="MIM:606598"
     exon            1..176
                     /gene="GDAP1"
                     /gene_synonym="CMT4; CMT4A; CMTRIA"
                     /inference="alignment:Splign:2.1.0"
     CDS             60..1136
                     /gene="GDAP1"
                     /gene_synonym="CMT4; CMT4A; CMTRIA"
                     /note="isoform a is encoded by transcript variant 1;
                     Charcot-Marie-Tooth neuropathy 4A"
                     /codon_start=1
                     /product="ganglioside-induced differentiation-associated
                     protein 1 isoform a"
                     /protein_id="NP_061845.2"
                     /db_xref="CCDS:CCDS34911.1"
                     /db_xref="GeneID:54332"
                     /db_xref="HGNC:HGNC:15968"
                     /db_xref="MIM:606598"
                     /translation="MAERQEEQRGSPPLRAEGKADAEVKLILYHWTHSFSSQKVRLVI
                     AEKALKCEEHDVSLPLSEHNEPWFMRLNSTGEVPVLIHGENIICEATQIIDYLEQTFL
                     DERTPRLMPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTVDSMIPAYATTRI
                     RSQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDNVKYLKKILDELEKVLDQ
                     VETELQRRNEETPEEGQQPWLCGESFTLADVSLAVTLHRLKFLGFARRNWGNGKRPNL
                     ETYYERVLKRKTFNKVLGHVNNILISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGY
                     FAFMLFRKRLGSMILAFRPRPNYF"
     exon            177..369
                     /gene="GDAP1"
                     /gene_synonym="CMT4; CMT4A; CMTRIA"
                     /inference="alignment:Splign:2.1.0"
     exon            370..543
                     /gene="GDAP1"
                     /gene_synonym="CMT4; CMT4A; CMTRIA"
                     /inference="alignment:Splign:2.1.0"
     exon            544..638
                     /gene="GDAP1"
                     /gene_synonym="CMT4; CMT4A; CMTRIA"
                     /inference="alignment:Splign:2.1.0"
     exon            639..753
                     /gene="GDAP1"
                     /gene_synonym="CMT4; CMT4A; CMTRIA"
                     /inference="alignment:Splign:2.1.0"
     exon            754..3645
                     /gene="GDAP1"
                     /gene_synonym="CMT4; CMT4A; CMTRIA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2568..2573
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GDAP1"
                     /gene_synonym="CMT4; CMT4A; CMTRIA"
                     /note="hexamer: AATAAA"
     regulatory      2582..2587
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GDAP1"
                     /gene_synonym="CMT4; CMT4A; CMTRIA"
                     /note="hexamer: AGTAAA"
     polyA_site      2597
                     /gene="GDAP1"
                     /gene_synonym="CMT4; CMT4A; CMTRIA"
     polyA_site      2603
                     /gene="GDAP1"
                     /gene_synonym="CMT4; CMT4A; CMTRIA"
                     /note="major polyA site"
     regulatory      3622..3627
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GDAP1"
                     /gene_synonym="CMT4; CMT4A; CMTRIA"
                     /note="hexamer: AATAAA"
     polyA_site      3645
                     /gene="GDAP1"
                     /gene_synonym="CMT4; CMT4A; CMTRIA"
                     /note="major polyA site"
ORIGIN      
        1 gtgggaggga gaagtccagg gcggacaggc tgggcgcacc cgtgctcgcg caccccaaga
       61 tggctgagag gcaggaagag cagagaggga gcccgccctt gagggcggaa ggcaaggccg
      121 acgcggaggt taagctcatt ctgtaccatt ggacgcattc cttcagctct caaaaggtgc
      181 gcttggtaat tgctgaaaag gcattgaagt gcgaggaaca tgatgtaagt ctgcccttga
      241 gtgagcacaa tgagccttgg tttatgcgtt tgaactcaac tggagaagtg cctgtcctta
      301 tccacgggga aaacataatt tgtgaggcca ctcagatcat tgattatctt gaacagactt
      361 tcctggatga aagaacaccc aggttaatgc ctgataaaga aagcatgtat tacccacggg
      421 tacaacatta ccgagagctg cttgactcct tgccaatgga tgcctataca catggctgca
      481 ttttacatcc tgagttaact gtggactcca tgatcccggc ttatgcaact acaaggattc
      541 gtagccaaat tggaaacaca gagtctgagc tgaagaaact tgctgaagaa aacccagatt
      601 tacaagaagc atacattgca aaacagaaac gacttaaatc aaagctgctt gatcatgaca
      661 atgtcaagta tttgaagaaa attcttgatg agttggagaa agtcttggat caggttgaaa
      721 ctgaattgca aagaagaaat gaagaaaccc cagaagaggg ccagcaacct tggctctgcg
      781 gtgaatcctt caccctggca gacgtctcac tcgctgtcac attgcatcga ctgaagttcc
      841 tggggtttgc aaggagaaac tggggaaacg gaaagcgacc aaacttggaa acctattacg
      901 agcgtgtctt gaagagaaaa acatttaaca aggttttagg acatgtcaac aatatattaa
      961 tctctgcagt gctgccaaca gcattccggg tggccaagaa aagggcccca aaagttcttg
     1021 gcacgaccct tgtggttggt ttgcttgcag gagtgggata ttttgctttt atgcttttca
     1081 gaaagaggct tggcagcatg atattagcat ttagacccag accaaattat ttctaggttt
     1141 gttgggatct tgtcgtggca gctcatccaa gcatttagct agaccctgtg attgcccgtg
     1201 gctctctgag tctgtcttat tgagtagtta gcagtatttt ttcctaaaat tcagaagtca
     1261 tctttgttac acaacacagg ggttcaggta gcaataggac acaaaattgc tttattctac
     1321 aactgccagc tccaggcaga aataggaagg caaagagata agagaaggaa aaatgagaga
     1381 atgaagtctg tatagggtag agcaatagaa agtaagcttc gggtgcctcc aacgttcatg
     1441 gctgcctgtc tcattggtaa acctcacatt tagttacttg tggctactgc ccacacatac
     1501 acttctgtaa ttgagaactc ttaggagagg actagggaat cactggggat agtgggctgg
     1561 agagaacccc aggctttata tgtatacttt gacctcagtg ttaattttaa atgcttatga
     1621 atcacacaca ttgctttagt aagattaagt gcttatatac tagaaatttg atgctcattg
     1681 gaacacatct gcctagcatt tctgtaaaag tcttaagtga tattaagatg attccttacc
     1741 atttcagatg gtccgcaatt tgaattacca agtggtaatg gttccttact gttttagatg
     1801 gtgcctgtga gataccattc ctctggatgg tcatgtccag tcagtgggag gtagaaaggg
     1861 tggcatctgt agccctcttc atacacataa gtggcattta ggtgaatgtc ccagctaatc
     1921 actagcatgt ctaggtattg gctgggtagt gggtattttg atgatctggg agcaccaaat
     1981 atgttcattc ttcgtttggg gaggctggtc tgtaaacaca aaaattgttg tccagatctt
     2041 tcatctgttt atgatcatca acaaagactt gttagaaagg tctagtctta gcacttggca
     2101 gttaatctag ggaagatgaa ttaaatgggt agatagtgat gcatacctgt attcactgat
     2161 gtatgtttaa gggatttggg ggggatacct cagttcatgt ggaagggaca gtctcggtgt
     2221 gtcccatgaa taaccttgga actgcaacaa atggtttgtg ctcagaaaaa gtctttcatg
     2281 gtgacaggaa gacagtttcc ctggagctgg ccatgaaggc cttagaagcc atttctggtg
     2341 tctggtgggt agcaggcata gagatgatgt gccgaggtcc cagtgaacaa cagtagccaa
     2401 agaatgtact aactttatca ttaataggaa agtcatacct aggaaacaat gactttttga
     2461 tggcaaaatg attttttaat tctattttga tgctgtaatt ccatttcatg acctagttgt
     2521 attagaaaac cttgatgaac tatatgttcc cgatttacaa aaaaattaat aaaacctcca
     2581 gagtaaactc agtcaaacaa taattgagta gcagctttta taacatttaa aatttgcaca
     2641 tgagtgtgtt gtcatatgga gtgtctgaat ctgttgctgg gacataccaa tccatgtatt
     2701 cattagagcc atagaagtta ttattcatta gttcatagtg tttgagttct ttatgtcact
     2761 ctgttagaaa caagaactga gtcgtgaaga aataagaatt ggatttttat aaaaacctct
     2821 gaaggatatt tacctatgaa aaagttgtta agaataaaaa ttagaagtcc atggttaact
     2881 tttccttcaa tttatattat tcctgaatca tagggaatct ttctagaatg tgtttataat
     2941 ttccttgtac agtttctttg gaaatacgtt aaagatagtg gcaatttcat atatttcatg
     3001 gatacttgag tttgtgcttt taaggtgttt gtttagggat acaatgacca ctagatgtcg
     3061 ctgtttatcc agtagactaa gattgagtgt tctttttgtt cagcaactct tctaaaatgt
     3121 ttcaagcaaa gatagtaatg acctcagttt ctgaaataag ggcatcttca tcagattatt
     3181 cttctgtttt aaaaaaaagc ttgaggcaaa tgtgagtgat ttccagtgct ttgaaaggga
     3241 ttacagtatc acacaatgtc aagctagagt taaacacagt attagctaaa taggcactta
     3301 tgtgtatttt ctttttcatg attatcggtg actggtcagt gtactcatca atttccaaaa
     3361 tttgtataaa tatcacaatt agaaaaatgc ctgaggtact aaagttatgt tggctttttg
     3421 tgtcttaaca cacataaata ctattgttat tgcagcagat gccttttgaa tccattttcc
     3481 ataattgcgg atagtcataa attgcttgct caatttttag taattattgc tgttgacacc
     3541 agcgttgtag atttttggtg ttgttgaatg cagtagagag accaagacac tattctgtaa
     3601 gatcaataaa agtaattgga aaataaatat gaaccctaaa acaaa
//
