LOCUS       NM_017686               8819 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens ganglioside induced differentiation associated protein
            2 (GDAP2), transcript variant 1, mRNA.
ACCESSION   NM_017686
VERSION     NM_017686.4
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 8819)
  AUTHORS   Schroder,B., Wrocklage,C., Pan,C., Jager,R., Kosters,B.,
            Schafer,H., Elsasser,H.P., Mann,M. and Hasilik,A.
  TITLE     Integral and associated lysosomal membrane proteins
  JOURNAL   Traffic 8 (12), 1676-1686 (2007)
   PUBMED   17897319
REFERENCE   2  (bases 1 to 8819)
  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   3  (bases 1 to 8819)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB043931.1, BJ992034.1, AK000149.1, BX459360.2, AL122007.7 and
            AA825512.1.
            
            On Nov 23, 2018 this sequence version replaced NM_017686.3.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.91962.1,
                                           SRR1803611.130766.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369443.10/ ENSP00000358451.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-78                DB043931.1         59-136
            79-179              BJ992034.1         60-160
            180-1290            AK000149.1         141-1251
            1291-1687           BX459360.2         519-915             c
            1688-8436           AL122007.7         57059-63807         c
            8437-8819           AA825512.1         9-391               c
FEATURES             Location/Qualifiers
     source          1..8819
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p12"
     gene            1..8819
                     /gene="GDAP2"
                     /gene_synonym="MACROD3; SCAR27"
                     /note="ganglioside induced differentiation associated
                     protein 2"
                     /db_xref="GeneID:54834"
                     /db_xref="HGNC:HGNC:18010"
                     /db_xref="MIM:618128"
     exon            1..174
                     /gene="GDAP2"
                     /gene_synonym="MACROD3; SCAR27"
                     /inference="alignment:Splign:2.1.0"
     exon            175..417
                     /gene="GDAP2"
                     /gene_synonym="MACROD3; SCAR27"
                     /inference="alignment:Splign:2.1.0"
     CDS             242..1735
                     /gene="GDAP2"
                     /gene_synonym="MACROD3; SCAR27"
                     /note="isoform a is encoded by transcript variant 1"
                     /codon_start=1
                     /product="ganglioside-induced differentiation-associated
                     protein 2 isoform a"
                     /protein_id="NP_060156.1"
                     /db_xref="CCDS:CCDS897.1"
                     /db_xref="GeneID:54834"
                     /db_xref="HGNC:HGNC:18010"
                     /db_xref="MIM:618128"
                     /translation="MDPLGAPSQFVDVDTLPSWGDSCQDELNSSDTTAEIFQEDTVRS
                     PFLYNKDVNGKVVLWKGDVALLNCTAIVNTSNESLTDKNPVSESIFMLAGPDLKEDLQ
                     KLKGCRTGEAKLTKGFNLAARFIIHTVGPKYKSRYRTAAESSLYSCYRNVLQLAKEQS
                     MSSVGFCVINSAKRGYPLEDATHIALRTVRRFLEIHGETIEKVVFAVSDLEEGTYQKL
                     LPLYFPRSLKEENRSLPYLPADIGNAEGEPVVPERQIRISEKPGAPEDNQEEEDEGLG
                     VDLSFIGSHAFARMEGDIDKQRKLILQGQLSEAALQKQHQRNYNRWLCQARSEDLSDI
                     ASLKALYQTGVDNCGRTVMVVVGRNIPVTLIDMDKALLYFIHVMDHIAVKEYVLVYFH
                     TLTSEYNHLDSDFLKKLYDVVDVKYKRNLKAVYFVHPTFRSKVSTWFFTTFSVSGLKD
                     KIHHVDSLHQLFSAISPEQIDFPPFVLEYDARENGPYYTSYPPSPDL"
     exon            418..557
                     /gene="GDAP2"
                     /gene_synonym="MACROD3; SCAR27"
                     /inference="alignment:Splign:2.1.0"
     exon            558..711
                     /gene="GDAP2"
                     /gene_synonym="MACROD3; SCAR27"
                     /inference="alignment:Splign:2.1.0"
     exon            712..800
                     /gene="GDAP2"
                     /gene_synonym="MACROD3; SCAR27"
                     /inference="alignment:Splign:2.1.0"
     exon            801..877
                     /gene="GDAP2"
                     /gene_synonym="MACROD3; SCAR27"
                     /inference="alignment:Splign:2.1.0"
     exon            878..1037
                     /gene="GDAP2"
                     /gene_synonym="MACROD3; SCAR27"
                     /inference="alignment:Splign:2.1.0"
     exon            1038..1194
                     /gene="GDAP2"
                     /gene_synonym="MACROD3; SCAR27"
                     /inference="alignment:Splign:2.1.0"
     exon            1195..1271
                     /gene="GDAP2"
                     /gene_synonym="MACROD3; SCAR27"
                     /inference="alignment:Splign:2.1.0"
     exon            1272..1348
                     /gene="GDAP2"
                     /gene_synonym="MACROD3; SCAR27"
                     /inference="alignment:Splign:2.1.0"
     exon            1349..1488
                     /gene="GDAP2"
                     /gene_synonym="MACROD3; SCAR27"
                     /inference="alignment:Splign:2.1.0"
     exon            1489..1543
                     /gene="GDAP2"
                     /gene_synonym="MACROD3; SCAR27"
                     /inference="alignment:Splign:2.1.0"
     exon            1544..1687
                     /gene="GDAP2"
                     /gene_synonym="MACROD3; SCAR27"
                     /inference="alignment:Splign:2.1.0"
     exon            1688..8819
                     /gene="GDAP2"
                     /gene_synonym="MACROD3; SCAR27"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2123..2128
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GDAP2"
                     /gene_synonym="MACROD3; SCAR27"
                     /note="hexamer: AATATA"
     polyA_site      2147
                     /gene="GDAP2"
                     /gene_synonym="MACROD3; SCAR27"
                     /note="major polyA site"
     regulatory      2198..2203
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GDAP2"
                     /gene_synonym="MACROD3; SCAR27"
                     /note="hexamer: TATAAA"
     polyA_site      2229
                     /gene="GDAP2"
                     /gene_synonym="MACROD3; SCAR27"
     regulatory      8799..8804
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GDAP2"
                     /gene_synonym="MACROD3; SCAR27"
                     /note="hexamer: AGTAAA"
     polyA_site      8819
                     /gene="GDAP2"
                     /gene_synonym="MACROD3; SCAR27"
                     /note="major polyA site"
ORIGIN      
        1 agccggtgtt tcgcagccca gagcatttgc agctggtcac tccagtctcc tgggactttg
       61 actcgccgta ctcggcgcgc tcctgctgag ggtcgccgga gatgtcgctc ggccgccttc
      121 taccaggagc ctgatccgtg ccgcccgccg cccggatggg accaccagag tgctctaaag
      181 tctccagtga atattgaatt gctgaggatt ttgggaaaag acaaatcaaa gttcccattc
      241 catggatccc ttaggtgcac cttcccagtt tgtggatgtg gatacactac caagctgggg
      301 tgactcatgc caagatgaat taaattcctc tgatactaca gctgaaatat ttcaggaaga
      361 cactgttcga tcaccttttc tttataataa ggacgtcaat ggaaaagtgg ttctttggaa
      421 aggagatgtg gcattactga actgtacagc cattgtgaat accagcaatg aaagtctcac
      481 agataagaat cctgtgtcag aaagtatctt catgcttgca gggcctgatt tgaaggaaga
      541 tctccagaaa cttaaagggt gccgaacagg tgaagcaaaa ttgacaaaag gattcaatct
      601 agctgcccgg ttcatcattc acacagtggg acctaaatat aaaagccgct atcgcacagc
      661 agctgagagt tccctttata gctgctacag aaacgtactt caactagcaa aagagcagtc
      721 aatgtcttct gttggcttct gtgtcatcaa ttctgcaaaa cgtggttatc ctttagagga
      781 tgcaacacac atagcacttc gcactgtaag aagattccta gagattcatg gggaaaccat
      841 tgaaaaagta gtatttgctg tctctgatct tgaagagggt acttaccaaa agctgctacc
      901 tctctacttc ccaaggtcat taaaagagga gaatcgatca ttgccctacc tacctgcaga
      961 tattggaaat gcagaagggg agcctgtggt acctgaacga cagattagaa taagtgagaa
     1021 acctggtgct ccagaagata accaagaaga ggaggatgaa ggcttgggag ttgatctctc
     1081 tttcattggc tctcatgctt ttgctcgaat ggaaggagat attgacaagc aaagaaaact
     1141 gatccttcag ggacaattat cagaggcagc tctgcagaag cagcatcaaa gaaattataa
     1201 tcgctggtta tgtcaagcaa gatctgagga tctgtctgat attgcttctc taaaagcctt
     1261 ataccaaaca ggtgttgata actgtggtcg aacagtgatg gtggtagttg gaagaaacat
     1321 tcctgtaaca ttaatagata tggacaaggc tctcttatat ttcattcatg taatggatca
     1381 cattgctgtg aaggagtatg tattagtgta ttttcacacc ctgaccagcg aatacaatca
     1441 cctggactcc gacttcctga agaaactcta cgatgttgtt gatgtcaagt acaagaggaa
     1501 tttgaaggct gtttattttg tacatcccac atttcgttca aaggtgtcaa catggttttt
     1561 taccaccttt tctgtctcag gactgaagga caaaatccac catgtggaca gcctccacca
     1621 gctgttttct gccatatcac cagaacagat tgactttcct ccttttgtcc ttgaatatga
     1681 tgccagggaa aacgggcctt actatacatc atatccccca tcaccagatt tgtgacctgc
     1741 catctttcag tgcttcttgg ttcccaggat gccacttcct ccacgaatag ctacctgttg
     1801 aagtgatatt cattgttgct gtacagatcc agagagcctt ttgtccccac ctctctggta
     1861 tttttttatt gactgtatat tttctggcac ataagcaatc taaaaatggt aggccattct
     1921 gaactgcaca cattttaaat ttgtatattt atatgaaatg gaaatgttca tttttagatt
     1981 gttaatagaa attggggagc aacttttgag tatctttagt ttcctgaagg acaccgaatt
     2041 ctccattaga taaaccacca agactgttca catcatctct ctaacattgc acgcttcctt
     2101 tgtgtactta agtgattctc gaaatataca gaaccaatgt atgctaacca gatgcattgt
     2161 ttgcttcaga tccatggtgt taataccatg tatattttat aaagataatt tggctgtgtt
     2221 aaaagagaat tacctgagtc caagaatgtg gaaatgtatc tgacaaaaaa catcaaaatc
     2281 attagcaaaa cataggactt agaatgttaa tgtacaagtt aagactaaag tttaaggact
     2341 aaggttcctt ggattatatg acttgttaag attgccacag ttccgatctc aacagtgtgg
     2401 ggtgaaacaa gaagactgta tcttcagcct ttttcctata atcatggatg atttggtctt
     2461 attcaaaagg accgcacata ttagtactct taagagcatc ttccaagact ccagcagtga
     2521 gcatttagag agtgtgttgt cttccagagt catgaatgat tttgtttagc tatcaggtct
     2581 actacctcta aggacatttc atagcagcat ctcttgagtt gcctgcatca gtgtggagga
     2641 agtgtgtcac agtgaacaaa tccagggagc tgataattgg caaaagacca cttttaccac
     2701 tcaggctcta tttgtgcctt agcttggtta tgagtaaaaa ttagaattat gctgcctacc
     2761 tcacagaggt atcatgaaga tagcatttag aaagggcttt gttgtggtgg ggtatcttca
     2821 gttagttttt aaatgggaat aaatatatat gagggaatgc tacacagcac tcctcttgtc
     2881 cttgatacca tttgagtgat ttttcttttt gtgtggcaat acctgttagt gtaaaattcc
     2941 aaccctgatg acctccttcc tcttttgtcc agaatctctt ctggcctgct catcccctga
     3001 tgctatactt caataagagg catctgttgg ccattttaaa catttcttct tgaattaagg
     3061 tcaaaccatt attattccca tctgggtagc tttgtacttt ttttgattcc tacagccacc
     3121 tccccacagc cccatcttcc tcaccccatc acgtacattg gcagttcaga gaaaaaaaaa
     3181 agcagaacct ttctgttcta tcatgtgctc cagatcagtg cttccaaggg tcccattctt
     3241 ttctgcccaa actaattctt cattggagat caaagaaaca tattctcttc atttatgata
     3301 gggaaatgcc cctatagtgc attaaattca tcctgtattt tcccatataa acaagaagag
     3361 actttacatt ttttagataa aggttcttat cttttgcatg tattgaacac attttctttg
     3421 tgtcagacct caaaattact tgatccttat atatacatct atgttaagat tttctcttat
     3481 gtcccctagg tcatcacatc caggcagcca gtcagatgtc ggatgttaag ctttctctca
     3541 aacagtactt tttttttaac cccttgggca ctgtacctta aaagtctgca actttaactt
     3601 catcttctac agtcaatcgt gagatcatat ttgaggtatc ttcttcacaa ggagcagcta
     3661 tgaaagtctg ccaacttttc tttgttaaag gggaacttgg ctacctcaag aacctggccc
     3721 aaaccatttt ctgtagagat aatagaggcc gtaagctact ttgccaattt gaaaggaagc
     3781 aaatttatat atacaatttc ttacaggcaa tgattttgaa aggatgttcc tttgctatat
     3841 tcataccagt atattaatgt ttagtaacac aagcaggatt ctacatatgc tgagatttta
     3901 gtacaattga tgtcctaggg tataaaggtg atacagaact atatacatat caactgtgtt
     3961 ttataattca atgatgacta aagaaagata aggaccactc ttctcactga aactaaattt
     4021 gatgtgggac caagttcatg cttttataga tgtctaaagt gttatagaat gaagttgctt
     4081 caaagtacca aatcctagag gagaaatata atgaccttga tattgaaatg attaagcaac
     4141 atttggtata ccaatctgcc tttgtgaaaa ggtttagcct gaataataca tgccattttc
     4201 aaggacatat tagaggataa aggggatact ggatggagat gaccaccagc atctgatgtt
     4261 aattcaaagc accaccaagt ctttaattta attaaacttt ggtcatgcca aatgctaatt
     4321 gaattgttga agacacaagt tataaaatat taatttatta atcatgcaag gcataatatg
     4381 atttttaaaa caagtacact tcttgcttcc acgtgtattt gggttcttaa ttcatctata
     4441 tccaagtttc ttgatagtga aaattacctc ttaaaaaagg ttcagccttt attagactcg
     4501 tgagggcaaa tggtacatat tttaaagacg ttttctcctt taatgtatat tatgtttcat
     4561 tggcggatgc tttatatttc ctttttcttt ttcttttttt tttggagaca gtcttactct
     4621 gtcacccaag ctggagtgca atggtgtgat ctcggctcac tgcagcctcg gcctcccagg
     4681 tttaagtggt tctcctgcct cagcctccct agtagctggg actacaggtg cctgccacca
     4741 tgcctggcta attttttttt tttttttttt ttttttcagt agagacaggg tttcaccatg
     4801 ttggccagac tggtctcaaa ctcctgacct caagtgatct tcctgcctcg gcctcccaaa
     4861 gtgttgggct taccagtatg agccaccgtg cccatcctgt atttcctttt tcaaaggaat
     4921 acatctgcag tattttgaga gtaattagca gagggttttt tgagtatttt tggtaggaaa
     4981 aatagatgta gttttttaat caaatttctg aaattgaaaa tatcacttct ttttaaagag
     5041 ggataagtat agtcactcta gtagaaaaac atggcttgcc tatttcctct tcttttctgt
     5101 ttgcttggat attgtttaat gaattcaaac tgtaggttta gtcttgtctt tataacagtt
     5161 aatggagaag tgataaaatt aagtattcag cataaactaa agatcactct ttgtatttcc
     5221 ccgatacatt gacagtatgt atgtatatag agtttaaatt gcttaatata tgcacagaaa
     5281 tgattagaat ttgaagtact atatagagga gagttacatg gttctagtgg cagtggattg
     5341 attgtattaa ggaccaaaag aactgcagga taatataaaa acaccttgaa aactggagtt
     5401 agttaggttt ctttttcttt ttcttttttt tttttaaagg gccttactgt actttttttt
     5461 tttttttggt cacccaggct ggagtgcaat ggcacgatct cggctcactg taatctctgt
     5521 ctcctgggtt caagagattc tcctgtctca gcctccccag taagtgagat tatagacatg
     5581 caccaccatg cccggctaat ttttgtattt ttagtagaga cggggtttca ccatgttggc
     5641 caggctgctc tcgaattcct gacctcaggt gatctgccca ccttggcttc tcaaagtgcc
     5701 agattacagg cataagccac tgtgcctggc caggtttctg attatagttt tcttaagttg
     5761 taatcatcat aattaacgtg cgctagagtg ttttaactgt gctggcacta atgcttcttg
     5821 gcatataatt aactcttgtt ttgcaaaaag accatgaaga atgaaaggag ggctttacct
     5881 taccttagtc attttgggtg aataccgtaa actgggtggc gtaacaaaac acatttattt
     5941 ctcacagttg gaggctgaga aaccccaaga tcaaagtgcc atccagcgca attcctgatg
     6001 agggccctct tctggcttct tgctgtattc tcacttggca gagagagaga gacatcgtta
     6061 ctttcctgtc tcttcttata agggcactaa tctcattcat gagggctcca ccctcatgac
     6121 atgattacca cccagaggcc ccacctccaa atgccatcac tttgtatgtt agggcttcaa
     6181 catatgaatt tgcagacgag gaggagaaca taagcattca gttcataaca tacctataat
     6241 ctaggtcata tcataaaccc agagatgata aggattgcct ggtaggccta accatatata
     6301 catatacatg catgcacaca cacatatatg cataatctgc cttgttttac attctttgag
     6361 tcggacttct gtggtccata tgtagagaac atagagcaat aaataaccta gttcaatctt
     6421 tgagtcttac tgaactagtc cttaaacaga tggtatcaag atcattttag atattagtga
     6481 ctctcttgta tattagttat tttttacact tttaagaaca gcatctttga atcttttcaa
     6541 gtacagtatg ccttaaatgt ataggaccac tgagttcagg aagaaaagca taggtattct
     6601 gtaggtgaat tacactaaca aaatcacaac tgcagaatgt gatctgatac ttttgttgga
     6661 cagtaaagct aatacatttt atatacacag tcataccttt tttttttgta atgtgtttcg
     6721 ttaacgtaag cacacagtca tcacagactg agacaggact ttgttagacc agatcttgtg
     6781 agctaaatat ttaagagctt aacatatata aatgatttta attggtattg ggcgaaggaa
     6841 acctaaaaat gcttaaattg acagatctta caatttgctt actgaaaatt cagaaagctt
     6901 ttatgaaaac tttgtatttt aaaatatttt ttgctcattc tgaattagaa gttagatccc
     6961 ttttaaagag ggtctcactc tatacaaata tagcctatga agaatcaata gtgaaataat
     7021 agtgtttata ttgaacccca ggatgggaca ttattttttg accatttaca tgaggtcttt
     7081 ctctaattac caaagttaac cttaagagta gttaaaaact cagtgaattt tagtcaacat
     7141 tctctgtgga gacctggact agtgtttccc aaactttcat gtgcatgtat caaatcagct
     7201 gaggatatta ttaaatggag attcagattc aatagttctg gggtggcctc tgggattatc
     7261 agtttctaac aagctcttag gtgttatcaa ttctcctggt ccccagacca tagttagagt
     7321 aaaagagtat agactgcatt tagcttccag attttctctt tcaaggaaag gagacagaac
     7381 tgtcattgta attcttcctg tggtccaggc actctaacgt tcatcgtctc ttctaatgct
     7441 cttacaaatc ctgtgaggtt ggtgataata gaagttacct cctgaagacg acattcacaa
     7501 gcaggaccga ccgtgtagac cagttttctc aaactgaata atgtacttca ctttttaata
     7561 aggaaaaaaa tctcttagct cctcagtttt tgcttaattt atatttatta taatgttatc
     7621 taaatatata taaacataaa actaggtata aatgctttat gtttatatgt cttgcacaag
     7681 tataaaacca aaacaagttt atgggttaac acaagcaaaa ctataaaact aataaaattt
     7741 aaaatagtat taaatagtga tgttttgaca aaatgaaatt gtcacttgta atgtgattat
     7801 ggtactgagt gctacagtac aggctctttt cagttcaaca ggcatgtact gccatgtact
     7861 atgtgatgac ccaattcacc ctgttttctc ctattcagac tattacttta atttgttcag
     7921 cacatagtga tgttatttgg tcctcatcta gcctgaatcc atcattcccc tattaaaaca
     7981 gcctctgttc tccataagcc ttccaccact aatgtagaac tgggccttaa cagggaagtc
     8041 aatacaaata caaacctaag cactgagatg gttctgccaa tatttggttt taatacaatt
     8101 atccaaataa ttcagagcat gaatattatt ttaaaatgtt tcatcaacat gaataatgca
     8161 taattctcat agtaagttca tgggcacttt cctacaccca acacatatat actccacaag
     8221 gattttgcat ggaccccagt ttaagaagca acaatttagt ggtcagtagc attggcgctt
     8281 tggcttctga cacactcaga ccttgggcct gtttctcaac tttttctgaa cctcagtgtt
     8341 tttgtgtatt caacagggat aatattaatt gaataattag gaggaacaaa tgcaataatg
     8401 tacataaagc atgcatagta gtgtttataa atagcagcca ccactgcttt gattagaaat
     8461 aataacagct aacatttgag gatttactgt gtgccttgaa cgctgctaag ctctttatat
     8521 atattacata ttgagtggta gaatcaggat tcaaatccag atctgactcc aaagcgcatg
     8581 cttttataaa acataattta aatatagaat atcaatgtaa attgcttatt tagaaagttt
     8641 attttcttat attttctcaa aaatatttat tgtcaaatca gtgattctgt agaggggtaa
     8701 atagctaaat ttccttttaa aaattgtatg atgtgctgat ttcaaattga tgtgaaatac
     8761 agatttcatt taaaggcagt catgccagat tgtgctacag taaaggaata ttcagacca
//
