LOCUS       NM_001042479            3147 bp    mRNA    linear   PRI 12-FEB-2024
DEFINITION  Homo sapiens gem nuclear organelle associated protein 8 (GEMIN8),
            transcript variant 2, mRNA.
ACCESSION   NM_001042479
VERSION     NM_001042479.2
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 3147)
  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   2  (bases 1 to 3147)
  AUTHORS   Chari,A., Golas,M.M., Klingenhager,M., Neuenkirchen,N., Sander,B.,
            Englbrecht,C., Sickmann,A., Stark,H. and Fischer,U.
  TITLE     An assembly chaperone collaborates with the SMN complex to generate
            spliceosomal SnRNPs
  JOURNAL   Cell 135 (3), 497-509 (2008)
   PUBMED   18984161
REFERENCE   3  (bases 1 to 3147)
  AUTHORS   Otter,S., Grimmler,M., Neuenkirchen,N., Chari,A., Sickmann,A. and
            Fischer,U.
  TITLE     A comprehensive interaction map of the human survival of motor
            neuron (SMN) complex
  JOURNAL   J Biol Chem 282 (8), 5825-5833 (2007)
   PUBMED   17178713
REFERENCE   4  (bases 1 to 3147)
  AUTHORS   Carissimi,C., Saieva,L., Gabanella,F. and Pellizzoni,L.
  TITLE     Gemin8 is required for the architecture and function of the
            survival motor neuron complex
  JOURNAL   J Biol Chem 281 (48), 37009-37016 (2006)
   PUBMED   17023415
  REMARK    GeneRIF: Gemin8 has an essential role in the proper structural
            organization of the SMN complex and the involvement of the
            heteromeric subunit containing Gemin6, Gemin7, Gemin8, and Unrip in
            the recruitment of Sm proteins to the snRNP assembly pathway
REFERENCE   5  (bases 1 to 3147)
  AUTHORS   Carissimi,C., Saieva,L., Baccon,J., Chiarella,P., Maiolica,A.,
            Sawyer,A., Rappsilber,J. and Pellizzoni,L.
  TITLE     Gemin8 is a novel component of the survival motor neuron complex
            and functions in small nuclear ribonucleoprotein assembly
  JOURNAL   J Biol Chem 281 (12), 8126-8134 (2006)
   PUBMED   16434402
  REMARK    GeneRIF: Gemin8 is a novel integral component of the SMN complex
REFERENCE   6  (bases 1 to 3147)
  AUTHORS   Paushkin,S., Gubitz,A.K., Massenet,S. and Dreyfuss,G.
  TITLE     The SMN complex, an assemblyosome of ribonucleoproteins
  JOURNAL   Curr Opin Cell Biol 14 (3), 305-312 (2002)
   PUBMED   12067652
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC003035.1, BX386466.2 and
            AK000521.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001042479.1.
            
            Summary: The protein encoded by this gene is part of the SMN
            complex, which is necessary for spliceosomal snRNP assembly in the
            cytoplasm and pre-mRNA splicing in the nucleus. The encoded protein
            binds to both SMN1 and the GEMIN6/GEMIN7 heterodimer, mediating
            their interaction. This protein is found in nuclear Gemini of Cajal
            bodies (gems) and in the cytoplasm. Three transcript variants
            encoding the same protein have been found for this gene. [provided
            by RefSeq, May 2010].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 3. All three variants encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.222711.1,
                                           SRR1803612.163234.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155770 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000680255.1/ ENSP00000505429.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                AC003035.1         57151-57160
            11-216              BX386466.2         1-206
            217-979             AK000521.1         306-1068
            980-3147            AC003035.1         78150-80317
FEATURES             Location/Qualifiers
     source          1..3147
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.2"
     gene            1..3147
                     /gene="GEMIN8"
                     /gene_synonym="FAM51A1"
                     /note="gem nuclear organelle associated protein 8"
                     /db_xref="GeneID:54960"
                     /db_xref="HGNC:HGNC:26044"
                     /db_xref="MIM:300962"
     exon            1..116
                     /gene="GEMIN8"
                     /gene_synonym="FAM51A1"
                     /inference="alignment:Splign:2.1.0"
     exon            117..198
                     /gene="GEMIN8"
                     /gene_synonym="FAM51A1"
                     /inference="alignment:Splign:2.1.0"
     exon            199..246
                     /gene="GEMIN8"
                     /gene_synonym="FAM51A1"
                     /inference="alignment:Splign:2.1.0"
     CDS             232..960
                     /gene="GEMIN8"
                     /gene_synonym="FAM51A1"
                     /note="family with sequence similarity 51, member A1;
                     gemin-8"
                     /codon_start=1
                     /product="gem-associated protein 8"
                     /protein_id="NP_001035944.1"
                     /db_xref="CCDS:CCDS14159.1"
                     /db_xref="GeneID:54960"
                     /db_xref="HGNC:HGNC:26044"
                     /db_xref="MIM:300962"
                     /translation="MAAVKASTSKATRPWYSHPVYARYWQHYHQAMAWMQSHHNAYRK
                     AVESCFNLPWYLPSALLPQSSYDNEAAYPQSFYDHHVAWQDYPCSSSHFRRSGQHPRY
                     SSRIQASTKEDQALSKEEEMETESDAEVECDLSNMEITEELRQYFAETERHREERRRQ
                     QQLDAERLDSYVNADHDLYCNTRRSVEAPTERPGERRQAEMKRLYGDSAAKIQAMEAA
                     VQLSFDKHCDRKQPKYWPVIPLKF"
     exon            247..703
                     /gene="GEMIN8"
                     /gene_synonym="FAM51A1"
                     /inference="alignment:Splign:2.1.0"
     exon            704..3147
                     /gene="GEMIN8"
                     /gene_synonym="FAM51A1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1184..1189
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GEMIN8"
                     /gene_synonym="FAM51A1"
                     /note="hexamer: AATAAT"
     polyA_site      1202
                     /gene="GEMIN8"
                     /gene_synonym="FAM51A1"
                     /note="major polyA site"
     polyA_site      1257
                     /gene="GEMIN8"
                     /gene_synonym="FAM51A1"
                     /note="major polyA site"
     regulatory      3128..3133
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GEMIN8"
                     /gene_synonym="FAM51A1"
                     /note="hexamer: AATAAA"
     polyA_site      3147
                     /gene="GEMIN8"
                     /gene_synonym="FAM51A1"
                     /note="major polyA site"
ORIGIN      
        1 agtcgccccg gcaacagccg cctccctcgc gtcccccact ccccctctgt ctctccaagg
       61 aaaactaggc ccctgcgcgg ccaacgccca ggatccgcaa gctgcgcgcc cacgagctcc
      121 accagcccat tggagaaaag ttactgttca gtccctgaag gcttgtgcca taaaagagtg
      181 ggagacattc ccagggagtt tcagcaccca tttggacttt cacaatcaga gatggcagcg
      241 gtaaaggcat caacatcgaa agctaccagg ccttggtatt ctcatccggt atatgcaaga
      301 tactggcaac attatcatca agcaatggct tggatgcaaa gccatcacaa tgcctacagg
      361 aaggccgtgg aatcctgttt caatcttcca tggtacttac cttctgcgct tcttccccaa
      421 agctcttacg ataatgaggc tgcgtatcct cagtccttct atgaccatca tgtggcctgg
      481 caggactacc cctgcagttc ttcacatttc agaagatctg ggcagcatcc acgttacagc
      541 agtaggatcc aggcatccac aaaagaagac caagctttgt ccaaagagga agagatggag
      601 actgagtcag atgcagaggt agaatgtgac ctgagcaata tggaaatcac tgaagagctc
      661 cgccagtact ttgcagagac cgagaggcat agagaagaac gacggcggca gcagcagctg
      721 gatgcagagc gcctggacag ctatgtgaac gctgaccacg acctgtactg caacacccgc
      781 cggtcggtag aagccccaac tgagaggcct ggtgagcggc gccaggccga gatgaagcgt
      841 ttgtacgggg acagtgctgc caagatccaa gccatggagg ccgcggtgca gctgagcttt
      901 gacaagcact gtgaccgaaa gcagcccaag tactggccgg tcatccccct gaagttctga
      961 gctcagggca cagggtaccc agcctctcct tcttcctttt gggtacacgc tctttatctc
     1021 tccttctgta catttcttag ggaaagggga ctttgtactg gggtacaggc atgttcacca
     1081 cagtcccagt gggcctgtca cggggtggat gtactatgcc agccacttgg aggtctgcag
     1141 gacatgttct gttgccaaca tgataaattt tctcctgaca taaaataatt ttgcatatac
     1201 tatactggtt ttttatgttg ttggtaacag ttcaattcat taacgttctt gcctagagat
     1261 actgcctggt gttttgcttt tttatctttt cttgtcttta acctgtctga actacacaaa
     1321 tgcctttaaa aaaccagata tcctctctga ctctagctcc attagccccc actaaaaatg
     1381 agccaagtgt gtagtgagac aaataccact acctgtagtg gagagggatg catgttctat
     1441 aaagggccag agagtgaata tctttggcac tgcaagccac acggtcagtg ttgtgactac
     1501 tcaaccctcc ctttgtagtg tgaaagcagc tgtagacagt aagtaaacaa atgggtgtgg
     1561 ctgtgttcta ataaaacttt atttataaaa acaggcggcc gggcgcaatg gttcatgcct
     1621 gtaatcccag cactttggga ggccgaggtg ggcagatcac gaggtcagga gatggagacc
     1681 atcctggcca acatgatgaa acccgtcgct actaaaatac aaaaaatgag ccgggcatgg
     1741 tggtgtgtgc ctgtaatccc agctacgtgg gagactgagg caggggaatt gcttgaaccc
     1801 aggaggcaga ggttgcagtg agctgagatc gcgccactgc actccaacct agagaaagag
     1861 caagactccg tctcaaaaca aaaacaaaaa cagactgcag gccagatttg gtctacagat
     1921 ggtagtttgc caactgcacc tctcatggaa tgaaaatcac ctgcctgaca tttttattct
     1981 tgttatctca ttatgtctac agagcttaga tgtcatacag aattgagagc aaagaacaat
     2041 aattccggcc cggcgcggtg gctcatgcct gtaatcccag cactttggga ggctgaggtg
     2101 ggcagatcac gagatcagga gatcgagacc atcctggcta acacggtgaa accccatctc
     2161 tactaaaaat acaaaaaatt agccgggcgt ggtggcgggc acctgtagtc ccagctactt
     2221 gggaggctga ggcaggagaa tggcgtgaac ccaggaggcg gagcttgcag tgagccgagc
     2281 tccagcctgg gcaacagagt gagactccat ctcaaaagaa aaaaaaaaaa gaacaataat
     2341 tcccaaacct ggtcactgct gcagtcacct ctgttgcaga aaacgcacag ttgatttctt
     2401 actatataca gcaaatattg atttgataaa ggaatacatt tctgaaaatg aaatctaaaa
     2461 gctgatggag caggtcattt ataaaagcca gctgcctttt aaataagtta ttacagtaca
     2521 ttgccagggt gagcccatgt tgacctgaga agattagcac atccatcaaa ggctggtgaa
     2581 aagatttagt attgacatgt ttctctctaa gaacagttgg cttcacattc agcccctgcc
     2641 ctgagacaaa tgcattattt tcatcagccc tgggtgctta tttttctaag ctctcatttt
     2701 attactggag tcacaatttg tgtgtaggtg ttgccgacaa aaatgataat taactttccc
     2761 ttgaggtgac acataactaa aatttcaaat ctttagtatt tctccctttc attttaaatt
     2821 catatgccta actataaaat aactgtgact gagatacaag tacaaaccaa agcctggaat
     2881 tgcagcaggt gctgaggcat ttgaaagtga aatgtttctc ttcgcaaagg actcttatac
     2941 cctcccctaa agaaatcacc atgccggtct cacccctact ggctttgtta cctaaggctt
     3001 cacctctcag tgcttctggt tccttcctta tccttaaaat gagtgttaat aattctctcg
     3061 tggggtcatt gtgcggacca cattgagtag tgcctgtaaa acagtgctgg ctacacggta
     3121 aatactcaat aaatgttgac acgttta
//
