LOCUS       NM_013232               1110 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens programmed cell death 6 (PDCD6), transcript variant 1,
            mRNA.
ACCESSION   NM_013232 XM_001714855 XM_001720072 XM_001723249
VERSION     NM_013232.4
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 1110)
  AUTHORS   Shih,L.C., He,J.L., Chang,W.S., Hsu,C.L., Hsia,T.C., Wang,Y.C.,
            Yang,J.S., Mong,M.C., Tsai,C.W. and Bau,D.T.
  TITLE     The Contribution of PDCD6 Polymorphisms to Oral Cancer Risk
  JOURNAL   Cancer Genomics Proteomics 19 (4), 456-463 (2022)
   PUBMED   35732318
  REMARK    GeneRIF: The Contribution of PDCD6 Polymorphisms to Oral Cancer
            Risk.
REFERENCE   2  (bases 1 to 1110)
  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 1110)
  AUTHORS   Ji,W., Zhang,L., Xu,X. and Liu,X.
  TITLE     ALG2 regulates type I interferon responses by inhibiting STING
            trafficking
  JOURNAL   J Cell Sci 134 (24) (2021)
   PUBMED   34787301
  REMARK    GeneRIF: ALG2 regulates type I interferon responses by inhibiting
            STING trafficking.
REFERENCE   4  (bases 1 to 1110)
  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   5  (bases 1 to 1110)
  AUTHORS   Zhao,L., Zhou,N. and Zhao,P.
  TITLE     Expression level of NEAT1 differentiates benign and malignant
            thyroid nodules by regulating NEAT1/miR-9/PTEN and
            NEAT1/miR-124/PDCD6 signalling
  JOURNAL   Int J Mol Med 46 (5), 1661-1670 (2020)
   PUBMED   32901835
  REMARK    GeneRIF: Expression level of NEAT1 differentiates benign and
            malignant thyroid nodules by regulating NEAT1/miR9/PTEN and
            NEAT1/miR124/PDCD6 signalling.
REFERENCE   6  (bases 1 to 1110)
  AUTHORS   Krebs,J. and Klemenz,R.
  TITLE     The ALG-2/AIP-complex, a modulator at the interface between cell
            proliferation and cell death? A hypothesis
  JOURNAL   Biochim Biophys Acta 1498 (2-3), 153-161 (2000)
   PUBMED   11108958
  REMARK    Review article
REFERENCE   7  (bases 1 to 1110)
  AUTHORS   Chen,B., Borinstein,S.C., Gillis,J., Sykes,V.W. and Bogler,O.
  TITLE     The glioma-associated protein SETA interacts with AIP1/Alix and
            ALG-2 and modulates apoptosis in astrocytes
  JOURNAL   J Biol Chem 275 (25), 19275-19281 (2000)
   PUBMED   10858458
REFERENCE   8  (bases 1 to 1110)
  AUTHORS   Tarabykina,S., Moller,A.L., Durussel,I., Cox,J. and Berchtold,M.W.
  TITLE     Two forms of the apoptosis-linked protein ALG-2 with different
            Ca(2+) affinities and target recognition
  JOURNAL   J Biol Chem 275 (14), 10514-10518 (2000)
   PUBMED   10744743
REFERENCE   9  (bases 1 to 1110)
  AUTHORS   Vito,P., Pellegrini,L., Guiet,C. and D'Adamio,L.
  TITLE     Cloning of AIP1, a novel protein that associates with the
            apoptosis-linked gene ALG-2 in a Ca2+-dependent reaction
  JOURNAL   J Biol Chem 274 (3), 1533-1540 (1999)
   PUBMED   9880530
REFERENCE   10 (bases 1 to 1110)
  AUTHORS   Vito,P., Lacana,E. and D'Adamio,L.
  TITLE     Interfering with apoptosis: Ca(2+)-binding protein ALG-2 and
            Alzheimer's disease gene ALG-3
  JOURNAL   Science 271 (5248), 521-525 (1996)
   PUBMED   8560270
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK223366.1 and BC012384.1.
            
            On Nov 24, 2018 this sequence version replaced NM_013232.3.
            
            Summary: This gene encodes a calcium-binding protein belonging to
            the penta-EF-hand protein family. Calcium binding is important for
            homodimerization and for conformational changes required for
            binding to other protein partners. This gene product participates
            in T cell receptor-, Fas-, and glucocorticoid-induced programmed
            cell death. In mice deficient for this gene product, however,
            apoptosis was not blocked suggesting this gene product is
            functionally redundant. Alternatively spliced transcript variants
            encoding multiple isoforms have been observed for this gene, and a
            pseudogene of this gene is also located on the short arm of
            chromosome 5. [provided by RefSeq, May 2012].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: A downstream translational start codon is selected
            for this RefSeq based on its better conservation in mammalian
            species. An upstream in-frame start codon is also present but is
            poorly conserved; use of the upstream start codon would result in a
            protein that is 32 aa longer. Leaky scanning by ribosomes may allow
            translation initiation at the downstream start codon.
            
            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 :: SRR5189667.253523.1,
                                           SRR5189667.50959.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264933.9/ ENSP00000264933.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-421               AK223366.1         26-446
            422-1110            BC012384.1         415-1103
FEATURES             Location/Qualifiers
     source          1..1110
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.33"
     gene            1..1110
                     /gene="PDCD6"
                     /gene_synonym="ALG-2; ALG2; PEF1B"
                     /note="programmed cell death 6"
                     /db_xref="GeneID:10016"
                     /db_xref="HGNC:HGNC:8765"
                     /db_xref="MIM:601057"
     exon            1..176
                     /gene="PDCD6"
                     /gene_synonym="ALG-2; ALG2; PEF1B"
                     /inference="alignment:Splign:2.1.0"
     CDS             76..651
                     /gene="PDCD6"
                     /gene_synonym="ALG-2; ALG2; PEF1B"
                     /note="isoform 1 is encoded by transcript variant 1;
                     programmed cell death protein 6; probable calcium-binding
                     protein ALG-2; apoptosis-linked gene 2 protein homolog"
                     /codon_start=1
                     /product="programmed cell death protein 6 isoform 1"
                     /protein_id="NP_037364.1"
                     /db_xref="CCDS:CCDS3854.1"
                     /db_xref="GeneID:10016"
                     /db_xref="HGNC:HGNC:8765"
                     /db_xref="MIM:601057"
                     /translation="MAAYSYRPGPGAGPGPAAGAALPDQSFLWNVFQRVDKDRSGVIS
                     DTELQQALSNGTWTPFNPVTVRSIISMFDRENKAGVNFSEFTGVWKYITDWQNVFRTY
                     DRDNSGMIDKNELKQALSGFGYRLSDQFHDILIRKFDRQGRGQIAFDDFIQGCIVLQR
                     LTDIFRRYDTDQDGWIQVSYEQYLSMVFSIV"
     exon            177..238
                     /gene="PDCD6"
                     /gene_synonym="ALG-2; ALG2; PEF1B"
                     /inference="alignment:Splign:2.1.0"
     exon            239..283
                     /gene="PDCD6"
                     /gene_synonym="ALG-2; ALG2; PEF1B"
                     /inference="alignment:Splign:2.1.0"
     exon            284..442
                     /gene="PDCD6"
                     /gene_synonym="ALG-2; ALG2; PEF1B"
                     /inference="alignment:Splign:2.1.0"
     exon            443..552
                     /gene="PDCD6"
                     /gene_synonym="ALG-2; ALG2; PEF1B"
                     /inference="alignment:Splign:2.1.0"
     exon            553..1110
                     /gene="PDCD6"
                     /gene_synonym="ALG-2; ALG2; PEF1B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1088..1093
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDCD6"
                     /gene_synonym="ALG-2; ALG2; PEF1B"
                     /note="hexamer: AATAAA"
     polyA_site      1110
                     /gene="PDCD6"
                     /gene_synonym="ALG-2; ALG2; PEF1B"
                     /note="major polyA site"
ORIGIN      
        1 agaggcggaa gcggagtcgg cctgagaggt ctctcgtcgc tgcaggcgcc tcagcccagc
       61 cgcgtgcctt ggcccatggc cgcctactct taccgccccg gccctggggc cggccctggg
      121 cctgctgcag gcgcggcgct gccggaccag agcttcctgt ggaacgtttt ccagagggtc
      181 gataaagaca ggagtggagt gatatcagac accgagcttc agcaagctct ctccaacggc
      241 acgtggactc cctttaatcc agtgactgtc aggtcgatca tatccatgtt tgaccgtgag
      301 aacaaggccg gcgtgaactt cagcgagttc acgggtgtgt ggaagtacat cacggactgg
      361 cagaacgtct tccgcacgta cgaccgggac aactccggga tgatcgataa gaacgagctg
      421 aagcaggccc tctcaggttt cggctaccgg ctctctgacc agttccacga catcctcatt
      481 cgaaagtttg acaggcaggg acgggggcag attgccttcg acgacttcat ccagggctgc
      541 atcgtcctgc agaggttgac ggatatattc agacgttacg acacggatca ggacggctgg
      601 attcaggtgt cgtacgaaca gtacctgtcc atggtcttca gtatcgtatg accctggcct
      661 ctcgtgaaga gcagcacaac atggaaagag ccaaaatgtc acagttccta tctgtgaggg
      721 aatggagcac aggtgcagtt agatgctgtt cttcctttag attttgtcac gtggggaccc
      781 agctgtacat atgtggataa gctgattaat ggttttgcaa ctgtaatagt agctgtatcg
      841 ttctaatgca gacattggat ttggtgactg tctcattgtg ccatgaggta aatgtaatgt
      901 ttcaggcatt ctgcttgcaa aaaaatctat catgtgcttt tctagatgtc tctggttcta
      961 tagtgcaaat gcttttatta gccaatagga attttaaaat aacatggaac ttacacaaaa
     1021 ggcttttcat gtgccttact tttttaaaaa ggagtttatt gtattcattg gaatatgtga
     1081 cgtaagcaat aaagggaatg ttagacgtgt
//
