LOCUS       NM_032320               2439 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens BTB domain containing 10 (BTBD10), transcript variant
            2, mRNA.
ACCESSION   NM_032320
VERSION     NM_032320.7
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 2439)
  AUTHORS   Swaney,D.L., Ramms,D.J., Wang,Z., Park,J., Goto,Y., Soucheray,M.,
            Bhola,N., Kim,K., Zheng,F., Zeng,Y., McGregor,M., Herrington,K.A.,
            O'Keefe,R., Jin,N., VanLandingham,N.K., Foussard,H., Von Dollen,J.,
            Bouhaddou,M., Jimenez-Morales,D., Obernier,K., Kreisberg,J.F.,
            Kim,M., Johnson,D.E., Jura,N., Grandis,J.R., Gutkind,J.S.,
            Ideker,T. and Krogan,N.J.
  TITLE     A protein network map of head and neck cancer reveals PIK3CA mutant
            drug sensitivity
  JOURNAL   Science 374 (6563), eabf2911 (2021)
   PUBMED   34591642
REFERENCE   2  (bases 1 to 2439)
  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   3  (bases 1 to 2439)
  AUTHORS   Furuta,N., Makioka,K., Fujita,Y., Ikeda,M., Takatama,M.,
            Matsuoka,M. and Okamoto,K.
  TITLE     Reduced expression of BTBD10 in anterior horn cells with Golgi
            fragmentation and pTDP-43-positive inclusions in patients with
            sporadic amyotrophic lateral sclerosis
  JOURNAL   Neuropathology 33 (4), 397-404 (2013)
   PUBMED   23320755
  REMARK    GeneRIF: findings suggest that reduced BTBD10 expression is closely
            linked to the pathogenesis of sporadic amyotrophic lateral
            sclerosis
REFERENCE   4  (bases 1 to 2439)
  AUTHORS   Nawa,M., Kage-Nakadai,E., Aiso,S., Okamoto,K., Mitani,S. and
            Matsuoka,M.
  TITLE     Reduced expression of BTBD10, an Akt activator, leads to motor
            neuron death
  JOURNAL   Cell Death Differ 19 (8), 1398-1407 (2012)
   PUBMED   22388351
  REMARK    GeneRIF: Collectively, these results suggest that the reduced
            expression of BTBD10 leads to motor neuron death both in vitro and
            in vivo.
REFERENCE   5  (bases 1 to 2439)
  AUTHORS   Wang,J., Huo,K., Ma,L., Tang,L., Li,D., Huang,X., Yuan,Y., Li,C.,
            Wang,W., Guan,W., Chen,H., Jin,C., Wei,J., Zhang,W., Yang,Y.,
            Liu,Q., Zhou,Y., Zhang,C., Wu,Z., Xu,W., Zhang,Y., Liu,T., Yu,D.,
            Zhang,Y., Chen,L., Zhu,D., Zhong,X., Kang,L., Gan,X., Yu,X., Ma,Q.,
            Yan,J., Zhou,L., Liu,Z., Zhu,Y., Zhou,T., He,F. and Yang,X.
  TITLE     Toward an understanding of the protein interaction network of the
            human liver
  JOURNAL   Mol Syst Biol 7, 536 (2011)
   PUBMED   21988832
  REMARK    Erratum:[Mol Syst Biol. 2017 Dec 18;13(12):965. doi:
            10.15252/msb.20178107.. PMID: 29254952]
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2439)
  AUTHORS   Wang,X., Liu,Y., Yang,Z., Zhang,Z., Zhou,W., Ye,Z., Zhang,W.,
            Zhang,S., Yang,Z., Feng,X., Chen,F. and Hu,R.
  TITLE     Glucose metabolism-related protein 1 (GMRP1) regulates pancreatic
            beta cell proliferation and apoptosis via activation of Akt
            signalling pathway in rats and mice
  JOURNAL   Diabetologia 54 (4), 852-863 (2011)
   PUBMED   21267538
  REMARK    GeneRIF: GMRP1 regulates pancreatic beta cell proliferation and
            apoptosis via activation of Akt signalling pathway.
REFERENCE   7  (bases 1 to 2439)
  AUTHORS   Bennett,E.J., Rush,J., Gygi,S.P. and Harper,J.W.
  TITLE     Dynamics of cullin-RING ubiquitin ligase network revealed by
            systematic quantitative proteomics
  JOURNAL   Cell 143 (6), 951-965 (2010)
   PUBMED   21145461
REFERENCE   8  (bases 1 to 2439)
  AUTHORS   Nawa,M., Kanekura,K., Hashimoto,Y., Aiso,S. and Matsuoka,M.
  TITLE     A novel Akt/PKB-interacting protein promotes cell adhesion and
            inhibits familial amyotrophic lateral sclerosis-linked mutant
            SOD1-induced neuronal death via inhibition of PP2A-mediated
            dephosphorylation of Akt/PKB
  JOURNAL   Cell Signal 20 (3), 493-505 (2008)
   PUBMED   18160256
  REMARK    GeneRIF: BTBD10 appears to behave as a suppressor of cell death
            including neuronal cell death related to amyotrophic lateral
            sclerosis and an enhancer of cell growth via its positive
            regulation of Akt phosphorylation.
REFERENCE   9  (bases 1 to 2439)
  AUTHORS   Chen,J., Xu,J., Ying,K., Cao,G., Hu,G., Wang,L., Luo,C., Lou,M.,
            Mao,Y., Xie,Y. and Lu,Y.
  TITLE     Molecular cloning and characterization of a novel human BTB
            domain-containing gene, BTBD10, which is down-regulated in glioma
  JOURNAL   Gene 340 (1), 61-69 (2004)
   PUBMED   15556295
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF329102.2.
            
            On Feb 27, 2020 this sequence version replaced NM_032320.6.
            
            Transcript Variant: This variant (2) has two alternate upstream
            exons in place of the first exon compared to variant 1. The
            resulting isoform (2) has a shorter and distinct N-terminus
            compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF329102.2, AK292392.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267753 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000278174.10/ ENSP00000278174.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2439              AF329102.2         76-2514
FEATURES             Location/Qualifiers
     source          1..2439
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.3"
     gene            1..2439
                     /gene="BTBD10"
                     /gene_synonym="GMRP-1; GMRP1"
                     /note="BTB domain containing 10"
                     /db_xref="GeneID:84280"
                     /db_xref="HGNC:HGNC:21445"
                     /db_xref="MIM:615933"
     exon            1..131
                     /gene="BTBD10"
                     /gene_synonym="GMRP-1; GMRP1"
                     /inference="alignment:Splign:2.1.0"
     exon            132..289
                     /gene="BTBD10"
                     /gene_synonym="GMRP-1; GMRP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             189..1616
                     /gene="BTBD10"
                     /gene_synonym="GMRP-1; GMRP1"
                     /note="isoform 2 is encoded by transcript variant 2; BTB
                     (broad-complex tramtrack and bric-a-brac/pox virus and
                     zinc finger) domain-containing protein 10; BTB/POZ
                     domain-containing protein 10; BTB (POZ) domain containing
                     10; K+ channel tetramerization protein; glucose
                     metabolism-related protein 1; epididymis secretory sperm
                     binding protein"
                     /codon_start=1
                     /product="BTB/POZ domain-containing protein 10 isoform 2"
                     /protein_id="NP_115696.2"
                     /db_xref="CCDS:CCDS7811.1"
                     /db_xref="GeneID:84280"
                     /db_xref="HGNC:HGNC:21445"
                     /db_xref="MIM:615933"
                     /translation="MAGRPHPYDGNSSDPENWDRKLHSRPRKLYKHSSTSSRIAKGGV
                     DHTKMSLHGASGGHERSRDRRRSSDRSRDSSHERTESQLTPCIRNVTSPTRQHHVERE
                     KDHSSSRPSSPRPQKASPNGSISSAGNSSRNSSQSSSDGSCKTAGEMVFVYENAKEGA
                     RNIRTSERVTLIVDNTRFVVDPSIFTAQPNTMLGRMFGSGREHNFTRPNEKGEYEVAE
                     GIGSTVFRAILDYYKTGIIRCPDGISIPELREACDYLCISFEYSTIKCRDLSALMHEL
                     SNDGARRQFEFYLEEMILPLMVASAQSGERECHIVVLTDDDVVDWDEEYPPQMGEEYS
                     QIIYSTKLYRFFKYIENRDVAKSVLKERGLKKIRLGIEGYPTYKEKVKKRPGGRPEVI
                     YNYVQRPFIRMSWEKEEGKSRHVDFQCVKSKSITNLAAAAADIPQDQLVVMHPTPQVD
                     ELDILPIHPPSGNSDLDPDAQNPML"
     exon            290..486
                     /gene="BTBD10"
                     /gene_synonym="GMRP-1; GMRP1"
                     /inference="alignment:Splign:2.1.0"
     exon            487..772
                     /gene="BTBD10"
                     /gene_synonym="GMRP-1; GMRP1"
                     /inference="alignment:Splign:2.1.0"
     exon            773..875
                     /gene="BTBD10"
                     /gene_synonym="GMRP-1; GMRP1"
                     /inference="alignment:Splign:2.1.0"
     exon            876..996
                     /gene="BTBD10"
                     /gene_synonym="GMRP-1; GMRP1"
                     /inference="alignment:Splign:2.1.0"
     exon            997..1194
                     /gene="BTBD10"
                     /gene_synonym="GMRP-1; GMRP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1195..1305
                     /gene="BTBD10"
                     /gene_synonym="GMRP-1; GMRP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1306..2439
                     /gene="BTBD10"
                     /gene_synonym="GMRP-1; GMRP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2405..2410
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BTBD10"
                     /gene_synonym="GMRP-1; GMRP1"
                     /note="hexamer: AATAAA"
     polyA_site      2439
                     /gene="BTBD10"
                     /gene_synonym="GMRP-1; GMRP1"
                     /note="major polyA site"
ORIGIN      
        1 gcagccgcct cagtggcttc ctccacagcc acctccggag ggatctggct gaggaggaag
       61 tggaggtgtc actggccccg gcctttgccc caatcttgtg tgggcactga agggggacta
      121 caggttcgag agttatgggt gctacatgtg tgctttcaga gcagtagtgt gaggaagctt
      181 ggagtgggat ggcaggacgg cctcatccct atgatggtaa ctccagtgat ccagagaatt
      241 gggatcggaa attgcatagt agacctcgta aactttataa acattcaagt acttcctcgc
      301 gtattgctaa aggaggagtt gaccacacca aaatgagtct acatggtgct agtgggggac
      361 atgagagatc aagagataga cgaaggtcaa gtgacagatc acgagattca tctcatgaaa
      421 gaacggagtc tcagctcact ccttgtatta gaaatgtgac ttctccaaca cgacagcacc
      481 atgttgaacg agaaaaagat cacagttcct ctcgtccaag cagtccgcgt cctcaaaaag
      541 catccccaaa tggttccatt agcagtgctg ggaacagcag cagaaacagt agtcagtcaa
      601 gttcagatgg tagctgtaag acagctgggg agatggtgtt tgtatatgaa aatgcaaaag
      661 aaggagctcg gaatataaga acgtcagaac gagtgacact aatagtggat aacactagat
      721 ttgttgtaga cccatccatt tttactgcac agccaaatac aatgttgggc aggatgtttg
      781 gatctggccg agaacataac tttacacgac ccaatgagaa aggagagtat gaggtggcag
      841 agggaattgg ttccactgtg tttcgagcga ttctggatta ctataaaaca ggaataatcc
      901 gttgtcctga tggcatatct attcctgaac tgagagaagc atgtgactat ctttgtatct
      961 cttttgaata tagcactatt aaatgtagag atctcagtgc cctaatgcat gagttatcaa
     1021 atgatggtgc tcgtagacaa tttgaatttt atctggaaga aatgatcctc cctctcatgg
     1081 tagctagtgc ccagagtggg gaacgggaat gtcatatagt ggtgcttaca gatgatgatg
     1141 tggttgattg ggatgaagaa tatccaccac agatgggaga agaatattca caaattattt
     1201 atagcacaaa attatataga tttttcaagt atattgaaaa cagagatgtg gccaagtcag
     1261 ttttgaagga gaggggtctt aagaagatta gattgggaat agaaggttat cctacctaca
     1321 aagaaaaagt aaagaaaagg cctggaggcc gcccagaagt gatctacaac tatgtccaaa
     1381 gaccctttat tcgaatgtcc tgggagaagg aagaaggaaa gagtcggcat gtagactttc
     1441 agtgtgtaaa gagtaaatct atcaccaatc ttgcagcagc tgcagcagac attccccagg
     1501 accagctggt agtcatgcat ccaactccac aagtggatga gctggatatt ctccctatcc
     1561 atcccccttc tggcaacagt gacctcgatc ctgatgcaca gaatccaatg ctgtgatgct
     1621 gatcttcctt gaaaccatag catgctactc ttcacagtga cgttgtactc tcctcattct
     1681 gcactgcaag gccactcttc ttcattgtga gatgcacata acaatgttta ggatattgca
     1741 gtgtaggctt ttttaaagac caaaggtagc tgaatggttt ttttttaaat gagtacaact
     1801 ctagcatttt gaagttccag ttgtaaatgt atttgtttac cagtaggttt gtgaaattgg
     1861 ttctttgtat gggggatggt cctttttcac acagctaggt cttttcagaa gtggtggaaa
     1921 ttggcagctg gggtactttc agtttggact gatattcatc acacctcaga taaaatgcag
     1981 agtaatatat agttgcactt tataaatggt ggttaaatgg aaatgttcaa gccattttat
     2041 agttgtgatg cacaatataa tttaagtgct tctgtcaaag tattcctcca gtacaatttg
     2101 tatagtttgc tgcccttgat gagcaaaaag tatttatctt gggcttatct gaatgatcag
     2161 gatgagattt aatgcccata tcttaccagt tcagttatct ccagagccat ttcacccttt
     2221 agagtgagtc acatgcaggg agtgtgaatg tcagaggtgg tttattatcc agtctgcctt
     2281 acccttaatc tgttcacaga tatttattta ctaatgcttt ttttttctta agagttatgg
     2341 gataggaaaa tgaagtgttt gctcttcatt tactaaatga ttgtaaactt gagtttttca
     2401 tcaaaataaa attccattgt tttaatgttt ctgaccaaa
//
