LOCUS       NM_007241               2044 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens SNF8 subunit of ESCRT-II (SNF8), transcript variant 1,
            mRNA.
ACCESSION   NM_007241
VERSION     NM_007241.4
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 2044)
  AUTHORS   Brugger,M., Lauri,A., Zhen,Y., Gramegna,L.L., Zott,B., Sekulic,N.,
            Fasano,G., Kopajtich,R., Cordeddu,V., Radio,F.C., Mancini,C.,
            Pizzi,S., Paradisi,G., Zanni,G., Vasco,G., Carrozzo,R., Palombo,F.,
            Tonon,C., Lodi,R., La Morgia,C., Arelin,M., Blechschmidt,C.,
            Finck,T., Sorensen,V., Kreiser,K., Strobl-Wildemann,G., Daum,H.,
            Michaelson-Cohen,R., Ziccardi,L., Zampino,G., Prokisch,H., Abou
            Jamra,R., Fiorini,C., Arzberger,T., Winkelmann,J., Caporali,L.,
            Carelli,V., Stenmark,H., Tartaglia,M. and Wagner,M.
  TITLE     Bi-allelic variants in SNF8 cause a disease spectrum ranging from
            severe developmental and epileptic encephalopathy to syndromic
            optic atrophy
  JOURNAL   Am J Hum Genet 111 (3), 594-613 (2024)
   PUBMED   38423010
  REMARK    GeneRIF: Bi-allelic variants in SNF8 cause a disease spectrum
            ranging from severe developmental and epileptic encephalopathy to
            syndromic optic atrophy.
REFERENCE   2  (bases 1 to 2044)
  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   3  (bases 1 to 2044)
  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   4  (bases 1 to 2044)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 2044)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 2044)
  AUTHORS   Martin-Serrano,J., Yarovoy,A., Perez-Caballero,D. and Bieniasz,P.D.
  TITLE     Divergent retroviral late-budding domains recruit vacuolar protein
            sorting factors by using alternative adaptor proteins
  JOURNAL   Proc Natl Acad Sci U S A 100 (21), 12414-12419 (2003)
   PUBMED   14519844
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2003 Dec 9;100(25):152845.
            Yaravoy, A [corrected to Yarovoy, A]]
REFERENCE   7  (bases 1 to 2044)
  AUTHORS   von Schwedler,U.K., Stuchell,M., Muller,B., Ward,D.M., Chung,H.Y.,
            Morita,E., Wang,H.E., Davis,T., He,G.P., Cimbora,D.M., Scott,A.,
            Krausslich,H.G., Kaplan,J., Morham,S.G. and Sundquist,W.I.
  TITLE     The protein network of HIV budding
  JOURNAL   Cell 114 (6), 701-713 (2003)
   PUBMED   14505570
REFERENCE   8  (bases 1 to 2044)
  AUTHORS   Kamura,T., Burian,D., Khalili,H., Schmidt,S.L., Sato,S., Liu,W.J.,
            Conrad,M.N., Conaway,R.C., Conaway,J.W. and Shilatifard,A.
  TITLE     Cloning and characterization of ELL-associated proteins EAP45 and
            EAP20. a role for yeast EAP-like proteins in regulation of gene
            expression by glucose
  JOURNAL   J Biol Chem 276 (19), 16528-16533 (2001)
   PUBMED   11278625
REFERENCE   9  (bases 1 to 2044)
  AUTHORS   Lippincott-Schwartz,J., Roberts,T.H. and Hirschberg,K.
  TITLE     Secretory protein trafficking and organelle dynamics in living
            cells
  JOURNAL   Annu Rev Cell Dev Biol 16, 557-589 (2000)
   PUBMED   11031247
  REMARK    Review article
REFERENCE   10 (bases 1 to 2044)
  AUTHORS   Schmidt,A.E., Miller,T., Schmidt,S.L., Shiekhattar,R. and
            Shilatifard,A.
  TITLE     Cloning and characterization of the EAP30 subunit of the ELL
            complex that confers derepression of transcription by RNA
            polymerase II
  JOURNAL   J Biol Chem 274 (31), 21981-21985 (1999)
   PUBMED   10419521
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP342490.1, BC008976.1 and
            AC091133.11.
            
            On May 17, 2019 this sequence version replaced NM_007241.3.
            
            Summary: The protein encoded by this gene is a component of the
            endosomal sorting complex required for transport II (ESCRT-II),
            which regulates the movement of ubiquitinylated transmembrane
            proteins to the lysosome for degradation. This complex also
            interacts with the RNA polymerase II elongation factor (ELL) to
            overcome the repressive effects of ELL on RNA polymerase II
            activity. Several transcript variants encoding different isoforms
            have been found for this gene. [provided by RefSeq, Nov 2015].
            
            Transcript Variant: This variant (1) encodes the longest 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 :: BC008976.1, DRR138527.757703.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000502492.6/ ENSP00000421380.1
            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
            1-50                BP342490.1         1-50
            51-1264             BC008976.1         1-1214
            1265-2044           AC091133.11        110672-111451
FEATURES             Location/Qualifiers
     source          1..2044
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.32"
     gene            1..2044
                     /gene="SNF8"
                     /gene_synonym="DEE115; Dot3; EAP30; NEDOA; VPS22"
                     /note="SNF8 subunit of ESCRT-II"
                     /db_xref="GeneID:11267"
                     /db_xref="HGNC:HGNC:17028"
                     /db_xref="MIM:610904"
     exon            1..162
                     /gene="SNF8"
                     /gene_synonym="DEE115; Dot3; EAP30; NEDOA; VPS22"
                     /inference="alignment:Splign:2.1.0"
     CDS             109..885
                     /gene="SNF8"
                     /gene_synonym="DEE115; Dot3; EAP30; NEDOA; VPS22"
                     /note="isoform 1 is encoded by transcript variant 1; EAP30
                     subunit of ELL complex; vacuolar-sorting protein SNF8;
                     ESCRT-II complex subunit VPS22; ELL-associated protein of
                     30 kDa; SNF8, ESCRT-II complex subunit, homolog"
                     /codon_start=1
                     /product="vacuolar-sorting protein SNF8 isoform 1"
                     /protein_id="NP_009172.2"
                     /db_xref="CCDS:CCDS11541.1"
                     /db_xref="GeneID:11267"
                     /db_xref="HGNC:HGNC:17028"
                     /db_xref="MIM:610904"
                     /translation="MHRRGVGAGAIAKKKLAEAKYKERGTVLAEDQLAQMSKQLDMFK
                     TNLEEFASKHKQEIRKNPEFRVQFQDMCATIGVDPLASGKGFWSEMLGVGDFYYELGV
                     QIIEVCLALKHRNGGLITLEELHQQVLKGRGKFAQDVSQDDLIRAIKKLKALGTGFGI
                     IPVGGTYLIQSVPAELNMDHTVVLQLAEKNGYVTVSEIKASLKWETERARQVLEHLLK
                     EGLAWLDLQAPGEAHYWLPALFTDLYSQEITAEEAREALP"
     exon            163..213
                     /gene="SNF8"
                     /gene_synonym="DEE115; Dot3; EAP30; NEDOA; VPS22"
                     /inference="alignment:Splign:2.1.0"
     exon            214..352
                     /gene="SNF8"
                     /gene_synonym="DEE115; Dot3; EAP30; NEDOA; VPS22"
                     /inference="alignment:Splign:2.1.0"
     exon            353..457
                     /gene="SNF8"
                     /gene_synonym="DEE115; Dot3; EAP30; NEDOA; VPS22"
                     /inference="alignment:Splign:2.1.0"
     exon            458..530
                     /gene="SNF8"
                     /gene_synonym="DEE115; Dot3; EAP30; NEDOA; VPS22"
                     /inference="alignment:Splign:2.1.0"
     exon            531..672
                     /gene="SNF8"
                     /gene_synonym="DEE115; Dot3; EAP30; NEDOA; VPS22"
                     /inference="alignment:Splign:2.1.0"
     exon            673..747
                     /gene="SNF8"
                     /gene_synonym="DEE115; Dot3; EAP30; NEDOA; VPS22"
                     /inference="alignment:Splign:2.1.0"
     exon            748..2044
                     /gene="SNF8"
                     /gene_synonym="DEE115; Dot3; EAP30; NEDOA; VPS22"
                     /inference="alignment:Splign:2.1.0"
     regulatory      968..973
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNF8"
                     /gene_synonym="DEE115; Dot3; EAP30; NEDOA; VPS22"
                     /note="hexamer: AATAGA"
     polyA_site      989
                     /gene="SNF8"
                     /gene_synonym="DEE115; Dot3; EAP30; NEDOA; VPS22"
                     /note="major polyA site"
     regulatory      1242..1247
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNF8"
                     /gene_synonym="DEE115; Dot3; EAP30; NEDOA; VPS22"
                     /note="hexamer: AATAAA"
     polyA_site      1264
                     /gene="SNF8"
                     /gene_synonym="DEE115; Dot3; EAP30; NEDOA; VPS22"
     polyA_site      1299
                     /gene="SNF8"
                     /gene_synonym="DEE115; Dot3; EAP30; NEDOA; VPS22"
ORIGIN      
        1 gcagatgacg cgcggctcgg gcttccgcct tggggagccg gcggcggagt ccgggacgtg
       61 gagacccggg gtcccggcag ccgggcggcc cgcgggccca gggtggggat gcaccgccgc
      121 ggggtgggag ctggcgccat cgccaagaag aaacttgcag aggccaagta taaggagcga
      181 gggacggtct tggctgagga ccagctagcc cagatgtcaa agcagttgga catgttcaag
      241 accaacctgg aggaatttgc cagcaaacac aagcaggaga tccggaagaa tcctgagttc
      301 cgtgtgcagt tccaggacat gtgtgcaacc attggcgtgg atccgctggc ctctggaaaa
      361 ggattttggt ctgagatgct gggcgtgggg gacttctatt acgaactagg tgtccaaatt
      421 atcgaagtgt gcctggcgct gaagcatcgg aatggaggtc tgataacttt ggaggaacta
      481 catcaacagg tgttgaaggg aaggggcaag ttcgcccagg atgtcagtca agatgacctg
      541 atcagagcca tcaagaaact aaaggcactt ggcactggct tcggcatcat ccctgtgggc
      601 ggcacttacc tcattcagtc tgttccagct gagctcaata tggatcacac cgtggtgctg
      661 cagctggcag agaagaatgg ctacgtgact gtcagtgaga tcaaagccag tcttaaatgg
      721 gagaccgagc gagcgcggca agtgctggaa cacctgctga aggaagggtt ggcgtggctg
      781 gacttacagg ccccagggga ggcccactac tggctgccag ctctcttcac tgacctctac
      841 tcccaggaga ttacagctga ggaggccaga gaagccctcc cctgactgca tgtggaaggg
      901 cacacagcag caggcaggga ggaggcggag gtggcaaata aacctgggca attttgttta
      961 tacaaaaaat agaaaaaaag ttccaagttt ttctttcttc cctcattctt ttatttttga
     1021 aaagtgcctt cacgttgcat ttttattgga ggaaaacctc gctcgttcag taagcataat
     1081 ctgattaaca cagagaacgg caagcacata taaaatgatt tttgtaggtc atctgcaagt
     1141 tcatggaaga gctgggccta gaatgtgggt tgtttcctgg cctgtctagt ctttgtagct
     1201 gtgagacata gattacagcc tatgctaatt caaacctttt aaataaaatg ttccttatct
     1261 caaactagct ggtcctaatg gaccagtaaa taatattcac tttcagtctc ttctggcttc
     1321 ctctgtagag gctctaggtt atgacagagt tagctgtgag tatgaaggaa atagaagtca
     1381 atgtccaatc gtggctaaat tggaggaaag aaaacaatgg aatctgaggg gaatcaaaca
     1441 atagttaggg aatgttctat tttcttaaat tccctactag ctttctcacc ctcctgtagt
     1501 gattgccagg tccctctagc ctcagtagtg ggaaagggag tcatttactg aacacctacc
     1561 ctgtgccatt ttacatacag ctcacttaaa tttcaccaag taggcagcct tcaacatcac
     1621 aggtgattca atcaaagtaa tttgccaggg gccgccagct tcagccgagc taaagctggt
     1681 gcctaggcct attaacccga gcccatgcct tcatgtatca ctgcatagta cagaatggca
     1741 gcacatactg tgtgtagaca tttttctaca cacgtggtca gccaagagta aaagcctctg
     1801 catcagaaag caagaatctc ctatagcaag tagaagtggt gatgagggaa gaggccagag
     1861 ttgtttaagg ctcccaaagt ccttatggtc taaaggctaa gatcctaaaa gtgctagttt
     1921 agtactggaa atctgaaaac tcaatggttt ttccatactg agacccttcc tttagcagga
     1981 tatagcctgg gcccatctct tcctctgcct atccttgtag gacatgctca ctccaagctc
     2041 tgga
//
