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2020-04-07 23:12:20, GGRNA.v2 : RefSeq release 99 (Mar, 2020)

LOCUS       NM_001370730            3139 bp    mRNA    linear   PRI 21-JAN-2020
DEFINITION  Homo sapiens speckle type BTB/POZ protein (SPOP), transcript
            variant 7, mRNA.
ACCESSION   NM_001370730 XM_005257723
VERSION     NM_001370730.1
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 3139)
  AUTHORS   Hernandez-Llodra S, Segales L, Safont A, Juanpere N, Lorenzo M,
            Fumado L, Rodriguez-Vida A, Cecchini L, Bellmunt J and
            Lloreta-Trull J.
  TITLE     SPOP and FOXA1 mutations are associated with PSA recurrence in ERG
            wt tumors, and SPOP downregulation with ERG-rearranged prostate
  JOURNAL   Prostate 79 (10), 1156-1165 (2019)
   PUBMED   31090082
  REMARK    GeneRIF: In conclusion, SPOP and FOXA1 mutations may have
            prognostic value in ERG wt prostate tumors.
REFERENCE   2  (bases 1 to 3139)
  AUTHORS   Gang X, Xuan L, Zhao X, Lv Y, Li F, Wang Y and Wang G.
  TITLE     Speckle-type POZ protein suppresses lipid accumulation and prostate
            cancer growth by stabilizing fatty acid synthase
  JOURNAL   Prostate 79 (8), 864-871 (2019)
   PUBMED   30955223
  REMARK    GeneRIF: Data provide evidence that SPOP regulates lipid metabolism
            by decreasing FASN expression and FA synthesis, resulting in tumor
REFERENCE   3  (bases 1 to 3139)
  AUTHORS   Zhang J, Chen M, Zhu Y, Dai X, Dang F, Ren J, Ren S, Shulga YV,
            Beca F, Gan W, Wu F, Lin YM, Zhou X, DeCaprio JA, Beck AH, Lu KP,
            Huang J, Zhao C, Sun Y, Gao X, Pandolfi PP and Wei W.
  TITLE     SPOP Promotes Nanog Destruction to Suppress Stem Cell Traits and
            Prostate Cancer Progression
  JOURNAL   Dev. Cell 48 (3), 329-344 (2019)
   PUBMED   30595538
  REMARK    GeneRIF: cancer-derived mutations in SPOP or at the Nanog-degron
            (S68Y) disrupt SPOP-mediated destruction of Nanog, leading to
            elevated cancer stem cell traits and PrCa progression
REFERENCE   4  (bases 1 to 3139)
  AUTHORS   Fong KW, Zhao JC, Song B, Zheng B and Yu J.
  TITLE     TRIM28 protects TRIM24 from SPOP-mediated degradation and promotes
            prostate cancer progression
  JOURNAL   Nat Commun 9 (1), 5007 (2018)
   PUBMED   30479348
  REMARK    GeneRIF: TRIM24 and AR coactivated gene signature of SPOP-mutant
            prostate cancer (PCa) is similarly activated in human PCa with high
            TRIM28 expression.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3139)
  AUTHORS   Bouchard JJ, Otero JH, Scott DC, Szulc E, Martin EW, Sabri N,
            Granata D, Marzahn MR, Lindorff-Larsen K, Salvatella X, Schulman BA
            and Mittag T.
  TITLE     Cancer Mutations of the Tumor Suppressor SPOP Disrupt the Formation
            of Active, Phase-Separated Compartments
  JOURNAL   Mol. Cell 72 (1), 19-36 (2018)
   PUBMED   30244836
  REMARK    GeneRIF: Disease-associated SPOP mutations that lead to the
            accumulation of proto-oncogenic proteins interfere with phase
            separation and co-localization in membraneless organelles,
            suggesting that substrate-directed phase separation of this E3
            ligase underlies the regulation of ubiquitin-dependent proteostasis
REFERENCE   6  (bases 1 to 3139)
  AUTHORS   Diefenbach A, Tomasello E, Lucas M, Jamieson AM, Hsia JK, Vivier E
            and Raulet DH.
  TITLE     Selective associations with signaling proteins determine
            stimulatory versus costimulatory activity of NKG2D
  JOURNAL   Nat. Immunol. 3 (12), 1142-1149 (2002)
   PUBMED   12426565
  REMARK    Erratum:[Nat Immunol. 2004 Jun;5(6):658]
REFERENCE   7  (bases 1 to 3139)
  AUTHORS   Gilfillan S, Ho EL, Cella M, Yokoyama WM and Colonna M.
  TITLE     NKG2D recruits two distinct adapters to trigger NK cell activation
            and costimulation
  JOURNAL   Nat. Immunol. 3 (12), 1150-1155 (2002)
   PUBMED   12426564
REFERENCE   8  (bases 1 to 3139)
  AUTHORS   Zapata JM, Pawlowski K, Haas E, Ware CF, Godzik A and Reed JC.
  TITLE     A diverse family of proteins containing tumor necrosis factor
            receptor-associated factor domains
  JOURNAL   J. Biol. Chem. 276 (26), 24242-24252 (2001)
   PUBMED   11279055
REFERENCE   9  (bases 1 to 3139)
  AUTHORS   Wu J, Song Y, Bakker AB, Bauer S, Spies T, Lanier LL and Phillips
  TITLE     An activating immunoreceptor complex formed by NKG2D and DAP10
  JOURNAL   Science 285 (5428), 730-732 (1999)
   PUBMED   10426994
REFERENCE   10 (bases 1 to 3139)
  AUTHORS   Nagai Y, Kojima T, Muro Y, Hachiya T, Nishizawa Y, Wakabayashi T
            and Hagiwara M.
  TITLE     Identification of a novel nuclear speckle-type protein, SPOP
  JOURNAL   FEBS Lett. 418 (1-2), 23-26 (1997)
   PUBMED   9414087
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006487.9.
            On May 24, 2019 this sequence version replaced XM_005257723.4.
            Summary: This gene encodes a protein that may modulate the
            transcriptional repression activities of death-associated protein 6
            (DAXX), which interacts with histone deacetylase, core histones,
            and other histone-associated proteins. In mouse, the encoded
            protein binds to the putative leucine zipper domain of macroH2A1.2,
            a variant H2A histone that is enriched on inactivated X
            chromosomes. The BTB/POZ domain of this protein has been shown in
            other proteins to mediate transcriptional repression and to
            interact with components of histone deacetylase co-repressor
            complexes. Alternative splicing of this gene results in multiple
            transcript variants encoding the same protein. [provided by RefSeq,
            Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            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.
            Transcript exon combination :: AK293045.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
            1-403               AC006487.9         160452-160854       c
            404-454             AC006487.9         151095-151145       c
            455-598             AC006487.9         137069-137212       c
            599-720             AC006487.9         136282-136403       c
            721-872             AC006487.9         133570-133721       c
            873-1000            AC006487.9         133317-133444       c
            1001-1178           AC006487.9         125616-125793       c
            1179-1234           AC006487.9         122210-122265       c
            1235-1357           AC006487.9         121586-121708       c
            1358-1500           AC006487.9         116201-116343       c
            1501-3139           AC006487.9         113220-114858       c
FEATURES             Location/Qualifiers
     source          1..3139
                     /organism="Homo sapiens"
     gene            1..3139
                     /gene_synonym="BTBD32; TEF2"
                     /note="speckle type BTB/POZ protein"
     exon            1..403
                     /gene_synonym="BTBD32; TEF2"
     exon            404..454
                     /gene_synonym="BTBD32; TEF2"
     exon            455..598
                     /gene_synonym="BTBD32; TEF2"
     misc_feature    485..487
                     /gene_synonym="BTBD32; TEF2"
                     /note="upstream in-frame stop codon"
     CDS             521..1645
                     /gene_synonym="BTBD32; TEF2"
                     /note="HIB homolog 1; roadkill homolog 1"
                     /product="speckle-type POZ protein"
     misc_feature    602..1018
                     /gene_synonym="BTBD32; TEF2"
                     /note="Speckle-type POZ protein (SPOP) family, MATH
                     domain; composed of proteins with similarity to human
                     SPOP. SPOP was isolated as a novel antigen recognized by
                     serum from a scleroderma patient, whose overexpression in
                     COS cells results in a discrete speckled...; Region:
                     MATH_SPOP; cd03774"
     misc_feature    731..1093
                     /gene_synonym="BTBD32; TEF2"
                     /experiment="experimental evidence, no additional details
                     /note="propagated from UniProtKB/Swiss-Prot (O43791.1);
                     Region: Required for nuclear localization"
     misc_feature    order(779..781,908..916)
                     /gene_synonym="BTBD32; TEF2"
                     /note="putative substrate binding site [chemical binding];
                     other site"
     misc_feature    887..919
                     /gene_synonym="BTBD32; TEF2"
                     /experiment="experimental evidence, no additional details
                     /note="propagated from UniProtKB/Swiss-Prot (O43791.1);
                     Region: Important for binding substrate proteins"
     misc_feature    1064..1423
                     /gene_synonym="BTBD32; TEF2"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in speckle-type
                     POZ protein (SPOP) and similar proteins; Region:
                     BTB_POZ_SPOP-like; cd18279"
     misc_feature    1076..1171
                     /gene_synonym="BTBD32; TEF2"
                     /experiment="experimental evidence, no additional details
                     /note="propagated from UniProtKB/Swiss-Prot (O43791.1);
                     Region: Important for homodimerization"
     misc_feature    1409..1621
                     /gene_synonym="BTBD32; TEF2"
                     /note="BACK (BTB and C-terminal Kelch) domain found in
                     speckle-type POZ protein (SPOP); Region: BACK_SPOP;
     misc_feature    1409..1585
                     /gene_synonym="BTBD32; TEF2"
                     /experiment="experimental evidence, no additional details
                     /note="propagated from UniProtKB/Swiss-Prot (O43791.1);
                     Region: Important for homodimerization"
     exon            599..720
                     /gene_synonym="BTBD32; TEF2"
     exon            721..872
                     /gene_synonym="BTBD32; TEF2"
     exon            873..1000
                     /gene_synonym="BTBD32; TEF2"
     exon            1001..1178
                     /gene_synonym="BTBD32; TEF2"
     exon            1179..1234
                     /gene_synonym="BTBD32; TEF2"
     exon            1235..1357
                     /gene_synonym="BTBD32; TEF2"
     exon            1358..1500
                     /gene_synonym="BTBD32; TEF2"
     exon            1501..3139
                     /gene_synonym="BTBD32; TEF2"

by @meso_cacase at DBCLS
This page is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

If you use GGRNA in your work, please cite:
Naito Y, Bono H. (2012)
GGRNA: an ultrafast, transcript-oriented search engine for genes and transcripts.
Nucleic Acids Res., 40, W592-W596. [Full Text]