LOCUS       NM_000405               3603 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens ganglioside GM2 activator (GM2A), transcript variant
            1, mRNA.
ACCESSION   NM_000405
VERSION     NM_000405.5
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 3603)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 3603)
  AUTHORS   Inci,A., Cengiz Ergin,F.B., Biberoglu,G., Okur,I., Ezgu,F.S. and
            Tumer,L.
  TITLE     Two patients from Turkey with a novel variant in the GM2A gene and
            review of the literature
  JOURNAL   J Pediatr Endocrinol Metab 34 (6), 805-812 (2021)
   PUBMED   33819415
  REMARK    GeneRIF: Two patients from Turkey with a novel variant in the GM2A
            gene and review of the literature.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3603)
  AUTHORS   Bedia,C., Badia,M., Muixi,L., Levade,T., Tauler,R. and Sierra,A.
  TITLE     GM2-GM3 gangliosides ratio is dependent on GRP94 through
            down-regulation of GM2-AP cofactor in brain metastasis cells
  JOURNAL   Sci Rep 9 (1), 14241 (2019)
   PUBMED   31578452
  REMARK    GeneRIF: GM2-GM3 gangliosides ratio is dependent on GRP94 through
            down-regulation of GM2-AP cofactor in brain metastasis cells.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3603)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (bases 1 to 3603)
  AUTHORS   Xiao,C., Toro,C. and Tifft,C.
  TITLE     GM2 Activator Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   36007105
REFERENCE   6  (bases 1 to 3603)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
REFERENCE   7  (bases 1 to 3603)
  AUTHORS   Xie,B., Kennedy,J.L., McInnes,B., Auger,D. and Mahuran,D.
  TITLE     Identification of a processed pseudogene related to the functional
            gene encoding the GM2 activator protein: localization of the
            pseudogene to human chromosome 3 and the functional gene to human
            chromosome 5
  JOURNAL   Genomics 14 (3), 796-798 (1992)
   PUBMED   1427911
REFERENCE   8  (bases 1 to 3603)
  AUTHORS   Nagarajan,S., Chen,H.C., Li,S.C., Li,Y.T. and Lockyer,J.M.
  TITLE     Evidence for two cDNA clones encoding human GM2-activator protein
  JOURNAL   Biochem J 282 (Pt 3) (Pt 3), 807-813 (1992)
   PUBMED   1554364
REFERENCE   9  (bases 1 to 3603)
  AUTHORS   Klima,H., Tanaka,A., Schnabel,D., Nakano,T., Schroder,M., Suzuki,K.
            and Sandhoff,K.
  TITLE     Characterization of full-length cDNAs and the gene coding for the
            human GM2 activator protein
  JOURNAL   FEBS Lett 289 (2), 260-264 (1991)
   PUBMED   1915857
REFERENCE   10 (bases 1 to 3603)
  AUTHORS   Li,S.C., Nakamura,T., Ogamo,A. and Li,Y.T.
  TITLE     Evidence for the presence of two separate protein activators for
            the enzymic hydrolysis of GM1 and GM2 gangliosides
  JOURNAL   J Biol Chem 254 (21), 10592-10595 (1979)
   PUBMED   115863
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM834780.1, X61095.1 and
            AC008385.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_000405.4.
            
            Summary: This gene encodes a small glycolipid transport protein
            which acts as a substrate specific co-factor for the lysosomal
            enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with
            GM2 ganglioside activator, catalyzes the degradation of the
            ganglioside GM2, and other molecules containing terminal N-acetyl
            hexosamines. Mutations in this gene result in GM2-gangliosidosis
            type AB or the AB variant of Tay-Sachs disease. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Nov 2009].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (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##
            Transcript exon combination :: SRR1803615.27033.1,
                                           SRR1803617.237572.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000357164.4/ ENSP00000349687.3
            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
            1-22                BM834780.1         294-315
            23-976              X61095.1           12-965
            977-3557            AC008385.7         88982-91562         c
            3558-3603           AC008385.7         88936-88981         c
FEATURES             Location/Qualifiers
     source          1..3603
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q33.1"
     gene            1..3603
                     /gene="GM2A"
                     /gene_synonym="GM2-AP; GM2AP; SAP-3"
                     /note="ganglioside GM2 activator"
                     /db_xref="GeneID:2760"
                     /db_xref="HGNC:HGNC:4367"
                     /db_xref="MIM:613109"
     exon            1..113
                     /gene="GM2A"
                     /gene_synonym="GM2-AP; GM2AP; SAP-3"
                     /inference="alignment:Splign:2.1.0"
     CDS             33..614
                     /gene="GM2A"
                     /gene_synonym="GM2-AP; GM2AP; SAP-3"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; cerebroside sulfate activator protein;
                     sphingolipid activator protein 3; shingolipid activator
                     protein 3; GM2-activator protein; GM2 ganglioside
                     activator"
                     /codon_start=1
                     /product="ganglioside GM2 activator isoform 1 precursor"
                     /protein_id="NP_000396.2"
                     /db_xref="CCDS:CCDS4313.1"
                     /db_xref="GeneID:2760"
                     /db_xref="HGNC:HGNC:4367"
                     /db_xref="MIM:613109"
                     /translation="MQSLMQAPLLIALGLLLAAPAQAHLKKPSQLSSFSWDNCDEGKD
                     PAVIRSLTLEPDPIIVPGNVTLSVMGSTSVPLSSPLKVDLVLEKEVAGLWIKIPCTDY
                     IGSCTFEHFCDVLDMLIPTGEPCPEPLRTYGLPCHCPFKEGTYSLPKSEFVVPDLELP
                     SWLTTGNYRIESVLSSSGKRLGCIKIAASLKGI"
     exon            114..275
                     /gene="GM2A"
                     /gene_synonym="GM2-AP; GM2AP; SAP-3"
                     /inference="alignment:Splign:2.1.0"
     exon            276..458
                     /gene="GM2A"
                     /gene_synonym="GM2-AP; GM2AP; SAP-3"
                     /inference="alignment:Splign:2.1.0"
     exon            459..3603
                     /gene="GM2A"
                     /gene_synonym="GM2-AP; GM2AP; SAP-3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2382..2387
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GM2A"
                     /gene_synonym="GM2-AP; GM2AP; SAP-3"
                     /note="hexamer: AATAAA"
     polyA_site      2401
                     /gene="GM2A"
                     /gene_synonym="GM2-AP; GM2AP; SAP-3"
                     /note="major polyA site"
     regulatory      3527..3532
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GM2A"
                     /gene_synonym="GM2-AP; GM2AP; SAP-3"
                     /note="hexamer: AATAAA"
     regulatory      3540..3545
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GM2A"
                     /gene_synonym="GM2-AP; GM2AP; SAP-3"
                     /note="hexamer: AGTAAA"
     regulatory      3551..3556
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GM2A"
                     /gene_synonym="GM2-AP; GM2AP; SAP-3"
                     /note="hexamer: AATAAA"
     polyA_site      3552
                     /gene="GM2A"
                     /gene_synonym="GM2-AP; GM2AP; SAP-3"
     polyA_site      3557
                     /gene="GM2A"
                     /gene_synonym="GM2-AP; GM2AP; SAP-3"
     polyA_site      3577
                     /gene="GM2A"
                     /gene_synonym="GM2-AP; GM2AP; SAP-3"
ORIGIN      
        1 gcagttaact ccgccctgac ccacccttcc cgatgcagtc cctgatgcag gctcccctcc
       61 tgatcgccct gggcttgctt ctcgcggccc ctgcgcaagc ccacctgaaa aagccatccc
      121 agctcagtag cttttcctgg gataactgtg atgaagggaa ggaccctgcg gtgatcagaa
      181 gcctgactct ggagcctgac cccatcatcg ttcctggaaa tgtgaccctc agtgtcatgg
      241 gcagcaccag tgtccccctg agttctcctc tgaaggtgga tttagttttg gagaaggagg
      301 tggctggcct ctggatcaag atcccatgca cagactacat tggcagctgt acctttgaac
      361 acttctgtga tgtgcttgac atgttaattc ctactgggga gccctgccca gagcccctgc
      421 gtacctatgg gcttccttgc cactgtccct tcaaagaagg aacctactca ctgcccaaga
      481 gcgaattcgt tgtgcctgac ctggagctgc ccagttggct caccaccggg aactaccgca
      541 tagagagcgt cctgagcagc agtgggaagc gtctgggctg catcaagatc gctgcctctc
      601 taaagggcat ataacatggc atctgccaca gcagaatgga gcggtgtgag gaaggtccct
      661 tttcctctgt tttgtgtttg ccaaggccaa actcccactc tctgcccccc tttaatcccc
      721 tttctacagt gagtccacta ccctcactga aaatcatttt gtaccactta cattttaggc
      781 tggggcaagc agccctgacc taagggagaa tgagttggac agttcttgat agcccagggc
      841 atctgctggg ctgaccacgt tactcatccc cgttaacatt ctctctaaag agcctcgttc
      901 atttccaaag cagttaagga atgggaacca gagtgtttta ggacctgaag aatctttatg
      961 actctctctc tttcactctt tttttttttt gtcactaagt taaaagcgaa gtgagagtat
     1021 taacgttttt gttctcctcc ggccccctgt tacaatgaag gggcaaaagt atttgctctt
     1081 agtctattcc tcccttaact tctgtgacta atttttattt cctttctaga tttgcccaat
     1141 taatactagg gtgcagtgta tcctggagag gtagggtgtg tgggggagga atcccttggg
     1201 ggagatatta ggagtgctct gttgtttaca aactcaggta cccgcagggc ctagcaagag
     1261 acttaaatga ctgataagaa ccgtgagaaa catgttgctt ccaggcttga tttcgatttt
     1321 tcgctttttt tttttttgag acagaatctc actttgtcac caggctggag tgcagtggtg
     1381 caatctcacc tcactgcaac ctccgcctcc tgggttcaag caattctcct gcctcagcct
     1441 cccaagtagc ttggactaca ggccctgcca ccacgcccgg ctaatttgtg tatttttagt
     1501 agagatgggg tttcaccatg ttggccagga tggtctcgat ctcttgacct cgtgatctgt
     1561 ccaccttggc cttgcaaagc gctggattac aggcatgagc cactacaccc agccgatttt
     1621 tcctttttga ttaaagatgc tattacaatg taaatatttc ttacacagaa agtcacagca
     1681 catgtgccca ttgatacaag gctgctgagg cctggtctcc agttggaaat ataattaagg
     1741 gtggcaagga ctggagtcag ttggagagtg catagccagt ctgtgaagac aactgccaga
     1801 tactggcaat actccagcct ggtgacagag tgagactctg tctcaaaaaa aaagtttcaa
     1861 tgtttactcc tagagaagcc aaaaatccag atttgtatat gaaatcttac cattttaaaa
     1921 gattggcagc taattatttt tttaaaaagc tgtgcagtgt gatgtgtccc aaacggactg
     1981 gctcatgggt ggccacgtca caacctctga tctcagaccg tgcatgcctt gtcctcttaa
     2041 gacaactcct gtggcaccgt ttctccctcc acagggccaa agccatagtg tccggtccca
     2101 aggacaaggc tcttccagtg ctaggagagg tatgagcagc ctctcacctg tgagctgtgg
     2161 ggatcacaag gctgcctgcc tcagtcttgg agtcctgttg ggtgaatgag gcagatggga
     2221 aagagcctca ccagcagctg cttttggagc aggggtccaa ggaagagagg gtggcctcga
     2281 catcaaactg cctggatttt tctaccaccc tgttacatca taacaacttc tgaaacacac
     2341 accagccctg agttctgggc tcatttgaag cctggaatag caataaatct ttttaacttg
     2401 cggacagttt ccccttgcct tggctgcata tttcactgat cacatctcag gatttcaaaa
     2461 gcatttttgg ggtggggctc ttttggttgg aagggtttgt tggaacggta caggtgagcc
     2521 gaggtgattc cagggacgga cccttctgca ggagcttgag cttgcttgtt gtctctgctt
     2581 catcgccatc cagctccctt gtttgctatt ttgctttcca tcacatcatg actgcggaga
     2641 gcaaaaatca cctagtgacc attgaacagg tcccagagac aaaatctttt tatctgagga
     2701 atttaaaagg gagcaaagac cacctggtga ctatcaggcc atgcagaggc aaaacgcctt
     2761 atttggggaa aattaaaagt aattagactt tcctattatc taaagcaggc atctggttcc
     2821 agatttcttt tccccgaaaa aaaccttaga agtaactaaa atttctgtac atctccggaa
     2881 tgccatgctg aaactcactg caaccccacg gtcccgcttt aaggtccata aatatcccta
     2941 aggaaaaatc caccgtggta cattcagtcc tctcaccgag gtgccccatg gcagtcttct
     3001 gcagcattct tctaatacct ttcctttttc aaacctatac tgttgttggt gaattctttt
     3061 taccaaccca cgagttgacc acttcccaat gccggggatc tgacacctca cctggcaatg
     3121 acctccacag ccgtttccct ctgttggatc ttccagcctt attctcaaca gttcattttt
     3181 agttcacatt cttgaccgaa tctcagtagc tcagttaatc tttttatgtc tgctctgctc
     3241 ttgggtcata tgttccgtga ggtttcttag gggtggggga tgaggagtta aaggtggcat
     3301 cttcaatcgc aggtcaaagc agactttaat aaatggtgct gagccaactg gaaagcccct
     3361 tggagaaagt tgaagttaga cctgtacttc acaccatatg caagaatgaa ctccatctgg
     3421 atccaggatc caaatgtaag aaaatgaagc catataaata cagaaggaaa cgtggtggaa
     3481 atatccagtg gcaacaaaat attgacacat ttgactacat gaagataata aaaatgctta
     3541 gtaaaaacac aataaaatca aatgactggg agaaaaattt atccagccta tataatagac
     3601 aaa
//
