LOCUS       NM_024034               2778 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens ganglioside induced differentiation associated protein
            1 like 1 (GDAP1L1), transcript variant 2, mRNA.
ACCESSION   NM_024034
VERSION     NM_024034.6
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 2778)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 2778)
  AUTHORS   Alalaiwe,A., Chen,C.Y., Chang,Z.Y., Sung,J.T., Chuang,S.Y. and
            Fang,J.Y.
  TITLE     Psoriasiform Inflammation Is Associated with Mitochondrial
            Fission/GDAP1L1 Signaling in Macrophages
  JOURNAL   Int J Mol Sci 22 (19), 10410 (2021)
   PUBMED   34638757
  REMARK    GeneRIF: Psoriasiform Inflammation Is Associated with Mitochondrial
            Fission/GDAP1L1 Signaling in Macrophages.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2778)
  AUTHORS   Deloukas,P., Matthews,L.H., Ashurst,J., Burton,J., Gilbert,J.G.,
            Jones,M., Stavrides,G., Almeida,J.P., Babbage,A.K., Bagguley,C.L.,
            Bailey,J., Barlow,K.F., Bates,K.N., Beard,L.M., Beare,D.M.,
            Beasley,O.P., Bird,C.P., Blakey,S.E., Bridgeman,A.M., Brown,A.J.,
            Buck,D., Burrill,W., Butler,A.P., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M., Clark,G., Clark,L.N., Clark,S.Y.,
            Clee,C.M., Clegg,S., Cobley,V.E., Collier,R.E., Connor,R.,
            Corby,N.R., Coulson,A., Coville,G.J., Deadman,R., Dhami,P.,
            Dunn,M., Ellington,A.G., Frankland,J.A., Fraser,A., French,L.,
            Garner,P., Grafham,D.V., Griffiths,C., Griffiths,M.N., Gwilliam,R.,
            Hall,R.E., Hammond,S., Harley,J.L., Heath,P.D., Ho,S., Holden,J.L.,
            Howden,P.J., Huckle,E., Hunt,A.R., Hunt,S.E., Jekosch,K.,
            Johnson,C.M., Johnson,D., Kay,M.P., Kimberley,A.M., King,A.,
            Knights,A., Laird,G.K., Lawlor,S., Lehvaslaiho,M.H., Leversha,M.,
            Lloyd,C., Lloyd,D.M., Lovell,J.D., Marsh,V.L., Martin,S.L.,
            McConnachie,L.J., McLay,K., McMurray,A.A., Milne,S., Mistry,D.,
            Moore,M.J., Mullikin,J.C., Nickerson,T., Oliver,K., Parker,A.,
            Patel,R., Pearce,T.A., Peck,A.I., Phillimore,B.J.,
            Prathalingam,S.R., Plumb,R.W., Ramsay,H., Rice,C.M., Ross,M.T.,
            Scott,C.E., Sehra,H.K., Shownkeen,R., Sims,S., Skuce,C.D.,
            Smith,M.L., Soderlund,C., Steward,C.A., Sulston,J.E., Swann,M.,
            Sycamore,N., Taylor,R., Tee,L., Thomas,D.W., Thorpe,A., Tracey,A.,
            Tromans,A.C., Vaudin,M., Wall,M., Wallis,J.M., Whitehead,S.L.,
            Whittaker,P., Willey,D.L., Williams,L., Williams,S.A., Wilming,L.,
            Wray,P.W., Hubbard,T., Durbin,R.M., Bentley,D.R., Beck,S. and
            Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
REFERENCE   4  (bases 1 to 2778)
  AUTHORS   Yudate,H.T., Suwa,M., Irie,R., Matsui,H., Nishikawa,T.,
            Nakamura,Y., Yamaguchi,D., Peng,Z.Z., Yamamoto,T., Nagai,K.,
            Hayashi,K., Otsuki,T., Sugiyama,T., Ota,T., Suzuki,Y., Sugano,S.,
            Isogai,T. and Masuho,Y.
  TITLE     HUNT: launch of a full-length cDNA database from the Helix Research
            Institute
  JOURNAL   Nucleic Acids Res 29 (1), 185-188 (2001)
   PUBMED   11125086
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC000199.1, CR749676.1,
            AI564068.1, BX423630.2 and AL117382.28.
            
            On Feb 27, 2020 this sequence version replaced NM_024034.5.
            
            Summary: The ganglioside GD3 synthase causes cell differentiation
            with neurite sprouting when transfected into the mouse
            neuroblastoma cell line Neuro2a. After differentiation, the
            expression of several genes is upregulated, including one that
            encodes a protein termed ganglioside-induced
            differentiation-associated protein 1 (Gdap1). A similar gene was
            found in humans, and mutations in the human gene are associated
            with Charcot-Marie-Tooth type 4A disease. The protein encoded by
            this gene is similar in sequence to the human GDAP1 protein.
            Several transcript variants encoding different isoforms, as well as
            a noncoding transcript variant, have been found for this gene.
            [provided by RefSeq, Feb 2012].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice junction at the 5' end of an exon compared to variant 1. The
            resulting isoform (2) has the same N- and C-termini but is shorter
            compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK056251.1, SRR14038193.3996518.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145245
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000342560.10/ ENSP00000341782.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1157              BC000199.1         27-1183
            1158-2204           CR749676.1         496-1542
            2205-2595           AI564068.1         1-391               c
            2596-2748           BX423630.2         1-153               c
            2749-2778           AL117382.28        13262-13291
FEATURES             Location/Qualifiers
     source          1..2778
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.12"
     gene            1..2778
                     /gene="GDAP1L1"
                     /gene_synonym="dJ881L22.1; dJ995J12.1.1"
                     /note="ganglioside induced differentiation associated
                     protein 1 like 1"
                     /db_xref="GeneID:78997"
                     /db_xref="HGNC:HGNC:4213"
     exon            1..207
                     /gene="GDAP1L1"
                     /gene_synonym="dJ881L22.1; dJ995J12.1.1"
                     /inference="alignment:Splign:2.1.0"
     CDS             28..1131
                     /gene="GDAP1L1"
                     /gene_synonym="dJ881L22.1; dJ995J12.1.1"
                     /note="isoform 2 is encoded by transcript variant 2;
                     GDAP1-L1"
                     /codon_start=1
                     /product="ganglioside-induced differentiation-associated
                     protein 1-like 1 isoform 2"
                     /protein_id="NP_076939.3"
                     /db_xref="CCDS:CCDS13328.1"
                     /db_xref="GeneID:78997"
                     /db_xref="HGNC:HGNC:4213"
                     /translation="MATPNNLTPTNCSWWPISALESDAAKPAEAPDAPEAASPAHWPR
                     ESLVLYHWTQSFSSQKVRLVIAEKGLVCEERDVSLPQSEHKEPWFMRLNLGEEVPVII
                     HRDNIISDYDQIIDYVERTFTGEHVVALMPEVGSLQHARVLQYRELLDALPMDAYTHG
                     CILHPELTTDSMIPKYATAEIRRHLANATTDLMKLDHEEEPQLSEPYLSKQKKLMAKI
                     LEHDDVSYLKKILGELAMVLDQIEAELEKRKLENEGQKCELWLCGCAFTLADVLLGAT
                     LHRLKFLGLSKKYWEDGSRPNLQSFFERVQRRFAFRKVLGDIHTTLLSAVIPNAFRLV
                     KRKPPSFFGASFLMGSLGGMGYFAYWYLKKKYI"
     exon            208..400
                     /gene="GDAP1L1"
                     /gene_synonym="dJ881L22.1; dJ995J12.1.1"
                     /inference="alignment:Splign:2.1.0"
     exon            401..574
                     /gene="GDAP1L1"
                     /gene_synonym="dJ881L22.1; dJ995J12.1.1"
                     /inference="alignment:Splign:2.1.0"
     exon            575..672
                     /gene="GDAP1L1"
                     /gene_synonym="dJ881L22.1; dJ995J12.1.1"
                     /inference="alignment:Splign:2.1.0"
     exon            673..787
                     /gene="GDAP1L1"
                     /gene_synonym="dJ881L22.1; dJ995J12.1.1"
                     /inference="alignment:Splign:2.1.0"
     exon            788..2778
                     /gene="GDAP1L1"
                     /gene_synonym="dJ881L22.1; dJ995J12.1.1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1121..1126
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GDAP1L1"
                     /gene_synonym="dJ881L22.1; dJ995J12.1.1"
                     /note="hexamer: AATACA"
     polyA_site      1158
                     /gene="GDAP1L1"
                     /gene_synonym="dJ881L22.1; dJ995J12.1.1"
                     /note="major polyA site"
     regulatory      2185..2190
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GDAP1L1"
                     /gene_synonym="dJ881L22.1; dJ995J12.1.1"
                     /note="hexamer: AATAAA"
     polyA_site      2204
                     /gene="GDAP1L1"
                     /gene_synonym="dJ881L22.1; dJ995J12.1.1"
     regulatory      2758..2763
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GDAP1L1"
                     /gene_synonym="dJ881L22.1; dJ995J12.1.1"
                     /note="hexamer: AATAAA"
     polyA_site      2778
                     /gene="GDAP1L1"
                     /gene_synonym="dJ881L22.1; dJ995J12.1.1"
ORIGIN      
        1 ctttcctgcc tctgattccg ggctgtcatg gcgaccccca acaatctgac ccccaccaac
       61 tgcagctggt ggcccatctc cgcgctggag agcgatgcgg ccaagccagc ggaggccccc
      121 gacgctcccg aggcggccag ccccgcccat tggcccaggg agagcctggt tctgtaccac
      181 tggacccagt ccttcagctc gcagaaggtg cggctggtga tcgccgagaa gggcctggtg
      241 tgcgaggagc gggacgtgag cctgccacag agcgagcaca aggagccctg gttcatgcgg
      301 ctcaacctgg gcgaggaggt gcccgtcatc atccaccgcg acaacatcat cagtgactat
      361 gaccagatca ttgactatgt ggagcgcacc ttcacaggag agcacgtggt ggccctgatg
      421 cccgaggtgg gcagcctgca gcacgcacgg gtgctgcagt accgggagct gctggacgca
      481 ctgcccatgg atgcctacac gcatggctgc atcctgcatc ccgagctcac caccgactcc
      541 atgatcccca agtacgccac ggccgagatc cgcagacatt tagccaatgc caccacggac
      601 ctcatgaaac tggaccatga agaggagccc cagctctccg agccctacct ttctaaacaa
      661 aagaagctca tggccaagat cttggagcat gatgatgtga gctacctgaa gaagatcctc
      721 ggggaactgg ccatggtgct ggaccagatt gaggcggagc tggagaagag gaagctggag
      781 aacgaggggc agaaatgcga gctgtggctc tgtggctgtg ccttcaccct cgctgatgtc
      841 ctcctgggag ccaccctgca ccgcctcaag ttcctgggac tgtccaagaa atactgggaa
      901 gatggcagcc ggcccaacct gcagtccttc tttgagaggg tccagagacg ctttgccttc
      961 cggaaagtcc tgggtgacat ccacaccacc ctgctgtcgg ccgtcatccc caatgctttc
     1021 cggctggtca agaggaaacc cccatccttc ttcggggcgt ccttcctcat gggctccctg
     1081 ggtgggatgg gctactttgc ctactggtac ctcaagaaaa aatacatcta gggccaggcc
     1141 tggggcttgg tgtctgactg tcggtgtctc tgtgctgtgt gattccccgt gagctctcag
     1201 taactcactg tctcatgaac acttggacag ccctccccgc ccttcgttct gagtaataat
     1261 accgtcagtg tgaaaacatt ccgtagttta gaagtagacg ttgccaatgc tgtgactcaa
     1321 ggccacggct ctactaaaag agagagagga agcgagagag agagagaaaa aacaaaaaac
     1381 agaaaacacg aatgcctttt ctatcgattc aaggtctcaa gatggaactg tggagactgg
     1441 ttaggatctg aggtgagtcc caggatgttt cgtccaccag ggcccagatt ctgggaggtg
     1501 ctggggactc agagggcctg acccctcacc tccccttccc tcttgcccag ggaactcttc
     1561 cacaggacaa agccgacatc aagactcaac tcctctaacc ggtacctctg aatggggctg
     1621 gataaccgga gaccccatgg gaggtccctg aagatcagaa ggggcttcac gcttctcctg
     1681 gacatggact agcttgagcc aaggcagtgg cacccaaaaa ccaggctgca gtggggacgg
     1741 ataccatgag cacaccctct cattgtcctt ctgatttggt ccatgtgttg ggtttggcct
     1801 tagtagaaat ctctgaaggc agcagccatc atcctcttcc taccttgagt ttttctaccc
     1861 tgtgaggtgg gactttcagt aaaagccatg ttgaccctct ctcagaaggt cagtccagcc
     1921 caagtgcagg ggcggatctg gaggtggaca aacctaggtc cccctcctag cctctgtcca
     1981 agccatctcc ttcaatatcc cccccttcct gtcactcccg gggctgtccc tgtactacac
     2041 ggtgccatgg agccggggag agcggggaag tctctgcatc catgccaccc accccagtcg
     2101 ggtctcactt tcctgtgcct tttgcatgtt gggaaagggt cttggtgtca ctgccgctca
     2161 tgcatagaaa ccaccaaaag ccccaataaa gcatccagga ggaacagttg cttttcattt
     2221 ctaaacctgt gctgtccatc tagttctcat tgccaagtgc tggagccaga agggtagaga
     2281 tgtgaggttt cagtctcagt tcttcacaag agcaagcaag agttgactgc ctgtctcaag
     2341 ttgctgggtc tggggctggc ttccagactg actttccagg gctctgacct taacatcaac
     2401 ccagctcatt taggctcagc cctttacagg ttacagggca tgtgtacaac cctttgttct
     2461 cattaacctg tgcaagggcc aggtgtagtg actcatattt ataatcccag tgctttggga
     2521 ggccaaggcg ggagaattgc tccaggccag gagttcaaga caagcctggg caatatagcg
     2581 agaccccatc tctagaaaat aaaataaaat aaacctatat atggacctca gggggcaccc
     2641 agggcacatg ccccccaccc caatttccca gagggaaaaa tgtatttaaa atgcccaaag
     2701 aacattaaat caggagtata atgtgtagaa tataaggcat ggttttactt attttgcaat
     2761 aaaaaaaagt attaagaa
//
