LOCUS       NM_013299               1261 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens SAC3 domain containing 1 (SAC3D1), transcript variant
            1, mRNA.
ACCESSION   NM_013299
VERSION     NM_013299.4
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 1261)
  AUTHORS   Wang,H. and Shi,X.
  TITLE     SAC3D1 activates Wnt/beta-catenin signalling in hepatocellular
            carcinoma
  JOURNAL   Mol Med Rep 26 (4) (2022)
   PUBMED   36004462
  REMARK    GeneRIF: SAC3D1 activates Wnt/betacatenin signalling in
            hepatocellular carcinoma.
REFERENCE   2  (bases 1 to 1261)
  AUTHORS   Liu,A.G., Zhong,J.C., Chen,G., He,R.Q., He,Y.Q., Ma,J., Yang,L.H.,
            Wu,X.J., Huang,J.T., Li,J.J., Mo,W.J. and Qin,X.G.
  TITLE     Upregulated expression of SAC3D1 is associated with progression in
            gastric cancer
  JOURNAL   Int J Oncol 57 (1), 122-138 (2020)
   PUBMED   32319600
  REMARK    GeneRIF: Upregulated expression of SAC3D1 is associated with
            progression in gastric cancer.
REFERENCE   3  (bases 1 to 1261)
  AUTHORS   Woldegebriel,R., Kvist,J., Andersson,N., Ounap,K., Reinson,K.,
            Wojcik,M.H., Bijlsma,E.K., Hoffer,M.J.V., Ryan,M.M., Stark,Z.,
            Walsh,M., Cuppen,I., van den Boogaard,M.H., Bharucha-Goebel,D.,
            Donkervoort,S., Winchester,S., Zori,R., Bonnemann,C.G.,
            Maroofian,R., O'Connor,E., Houlden,H., Zhao,F., Carpen,O.,
            White,M., Sreedharan,J., Stewart,M., Ylikallio,E. and Tyynismaa,H.
  TITLE     Distinct effects on mRNA export factor GANP underlie neurological
            disease phenotypes and alter gene expression depending on intron
            content
  JOURNAL   Hum Mol Genet 29 (9), 1426-1439 (2020)
   PUBMED   32202298
  REMARK    GeneRIF: Distinct effects on mRNA export factor GANP underlie
            neurological disease phenotypes and alter gene expression depending
            on intron content.
REFERENCE   4  (bases 1 to 1261)
  AUTHORS   Han,M.E., Kim,J.Y., Kim,G.H., Park,S.Y., Kim,Y.H. and Oh,S.O.
  TITLE     SAC3D1: a novel prognostic marker in hepatocellular carcinoma
  JOURNAL   Sci Rep 8 (1), 15608 (2018)
   PUBMED   30353105
  REMARK    GeneRIF: In this study, 3 independent cohorts (GSE10186, n = 80;
            TCGA, n = 330 and ICGC, n = 237) were used to assess SAC3D1 as a
            biomarker, which demonstrated SAC3D1 overexpression in
            hepatocellular carcinoma tissues when compared to the matched
            normal tissues.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1261)
  AUTHORS   Nakajima,H., Tamura,T., Ito,M., Shibata,F., Kuroda,K., Fukuchi,Y.,
            Watanabe,N., Kitamura,T., Ikeda,Y. and Handa,M.
  TITLE     SHD1 is a novel cytokine-inducible, negative feedback regulator of
            STAT5-dependent transcription
  JOURNAL   Blood 113 (5), 1027-1036 (2009)
   PUBMED   18838617
  REMARK    GeneRIF: SHD1 is a novel cytokine-inducible negative feedback
            regulator of STAT5a.
REFERENCE   6  (bases 1 to 1261)
  AUTHORS   Baillat,D., Hakimi,M.A., Naar,A.M., Shilatifard,A., Cooch,N. and
            Shiekhattar,R.
  TITLE     Integrator, a multiprotein mediator of small nuclear RNA
            processing, associates with the C-terminal repeat of RNA polymerase
            II
  JOURNAL   Cell 123 (2), 265-276 (2005)
   PUBMED   16239144
REFERENCE   7  (bases 1 to 1261)
  AUTHORS   Khuda,S.E., Yoshida,M., Xing,Y., Shimasaki,T., Takeya,M.,
            Kuwahara,K. and Sakaguchi,N.
  TITLE     The Sac3 homologue shd1 is involved in mitotic progression in
            mammalian cells
  JOURNAL   J Biol Chem 279 (44), 46182-46190 (2004)
   PUBMED   15322101
REFERENCE   8  (bases 1 to 1261)
  AUTHORS   Beausoleil,S.A., Jedrychowski,M., Schwartz,D., Elias,J.E.,
            Villen,J., Li,J., Cohn,M.A., Cantley,L.C. and Gygi,S.P.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP003068.3 and BC007448.2.
            
            On Nov 23, 2018 this sequence version replaced NM_013299.3.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a). Variants 1 and 2 both encode the same isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC007448.2, SRR1163658.457826.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000652489.1/ ENSP00000499090.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-657               AP003068.3         1276-1932
            658-1256            AP003068.3         4291-4889
            1257-1261           BC007448.2         1513-1517
FEATURES             Location/Qualifiers
     source          1..1261
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     gene            1..1261
                     /gene="SAC3D1"
                     /gene_synonym="HSU79266; SHD1"
                     /note="SAC3 domain containing 1"
                     /db_xref="GeneID:29901"
                     /db_xref="HGNC:HGNC:30179"
                     /db_xref="MIM:618796"
     exon            1..657
                     /gene="SAC3D1"
                     /gene_synonym="HSU79266; SHD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             84..1160
                     /gene="SAC3D1"
                     /gene_synonym="HSU79266; SHD1"
                     /note="isoform a is encoded by transcript variant 1; SAC3
                     domain-containing protein 1; SAC3 homology
                     domain-containing protein 1; Sac3 homology domain 1"
                     /codon_start=1
                     /product="SAC3 domain-containing protein 1 isoform a"
                     /protein_id="NP_037431.3"
                     /db_xref="CCDS:CCDS41668.1"
                     /db_xref="GeneID:29901"
                     /db_xref="HGNC:HGNC:30179"
                     /db_xref="MIM:618796"
                     /translation="MPGCELPVGTCPDMCPAAERAQREREHRLHRLEVVPGCRQDPPR
                     ADPQRAVKEYSRPAAGKPRPPPSQLRPPSVLLATVRYLAGEVAESADIARAEVASFVA
                     DRLRAVLLDLALQGAGDAEAAVVLEAALATLLTVVARLGPDAARGPADPVLLQAQVQE
                     GFGSLRRCYARGAGPHPRQPAFQGLFLLYNLGSVEALHEVLQLPAALRACPPLRKALA
                     VDAAFREGNAARLFRLLQTLPYLPSCAVQCHVGHARREALARFARAFSTPKGQTLPLG
                     FMVNLLALDGLREARDLCQAHGLPLDGEERVVFLRGRYVEEGLPPASTCKVLVESKLR
                     GRTLEEVVMAEEEDEGTDRPGSPA"
     exon            658..1261
                     /gene="SAC3D1"
                     /gene_synonym="HSU79266; SHD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1236..1241
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SAC3D1"
                     /gene_synonym="HSU79266; SHD1"
                     /note="hexamer: AATAAA"
     polyA_site      1261
                     /gene="SAC3D1"
                     /gene_synonym="HSU79266; SHD1"
                     /note="major polyA site"
ORIGIN      
        1 ccccccggcc ggcctcgcgt gccttcccgc agcactgccg tccccgggat gctgagcgcc
       61 caccgtctcc ccgcagcccc ctcatgcccg gctgcgagct gcccgtgggc acctgcccgg
      121 acatgtgccc ggccgccgag cgcgcccagc gcgaaaggga gcaccgcctg caccgcttgg
      181 aggtggtgcc gggttgccgc caggacccgc cccgcgcgga tccgcagcgc gcggtgaagg
      241 agtacagccg acccgccgcc ggcaagcccc ggcccccgcc cagccagttg cgtccgccct
      301 ccgtgctgct ggccaccgtg cgctacctgg ccggtgaggt ggcggagagc gccgacatcg
      361 cccgcgccga ggtggccagc ttcgtggcag accgcttgcg agctgtgctc ctggacctgg
      421 cgctgcaggg agcgggcgac gccgaggcag ctgtggtgct ggaggcggcg ctggccacgc
      481 tgctgaccgt agtggcgcgg ctcgggcccg acgcggcgcg gggacccgcg gacccggtgc
      541 tgctgcaggc ccaggtgcag gagggcttcg gctcgctgcg gcgctgctac gcgcggggcg
      601 ccgggccgca cccccgccaa cccgccttcc agggcctctt tctgctctat aacctgggct
      661 cggtggaagc cctgcatgag gttctacagc tgcctgctgc cctgcgcgcc tgcccgcccc
      721 tccgcaaggc cttggcggta gatgctgcct tccgagaggg caatgctgcc cgcctgttcc
      781 gtctgctcca gaccctgccc tacctgccaa gttgcgctgt gcagtgccat gtgggccatg
      841 cccgccggga agccctggcc cgcttcgctc gtgcctttag cacccccaag ggccagacct
      901 tgcctctggg cttcatggtc aacctcttgg ccctggatgg actcagggaa gcacgggacc
      961 tgtgccaggc ccacgggctg cccttggacg gagaggagag agttgtgttc ctgaggggtc
     1021 gctacgtgga ggaagggcta ccgcctgcca gtacgtgcaa ggtgttagtg gagagcaaac
     1081 ttcgaggacg taccctggag gaggtggtca tggcagagga ggaagatgag ggcacggaca
     1141 gacctgggtc cccagcctga ggagggagcg tgagcctccc agagccccag gactgggcca
     1201 gagcacttag gtttcttttt ccatggtttc caggtaataa aaggaacttg ttttgttggt
     1261 a
//
