LOCUS       NM_003217               2837 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens transmembrane BAX inhibitor motif containing 6
            (TMBIM6), transcript variant 1, mRNA.
ACCESSION   NM_003217
VERSION     NM_003217.3
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 2837)
  AUTHORS   Zhang,X., Chen,Q., He,Y., Shi,Q., Yin,C., Xie,Y., Yu,H., Bao,Y.,
            Wang,X., Tang,C. and Dong,Z.
  TITLE     STRIP2 motivates non-small cell lung cancer progression by
            modulating the TMBIM6 stability through IGF2BP3 dependent
  JOURNAL   J Exp Clin Cancer Res 42 (1), 19 (2023)
   PUBMED   36639675
  REMARK    GeneRIF: STRIP2 motivates non-small cell lung cancer progression by
            modulating the TMBIM6 stability through IGF2BP3 dependent.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2837)
  AUTHORS   Liao,Y., Qiu,Z. and Bai,L.
  TITLE     miR-302d-3p regulates the viability, migration and apoptosis of
            breast cancer cells through regulating the TMBIM6-mediated ERK
            signaling pathway
  JOURNAL   Mol Med Rep 24 (6) (2021)
   PUBMED   34651659
  REMARK    GeneRIF: miR302d3p regulates the viability, migration and apoptosis
            of breast cancer cells through regulating the TMBIM6mediated ERK
            signaling pathway.
REFERENCE   3  (bases 1 to 2837)
  AUTHORS   Bhattarai,K.R., Kim,H.K., Chaudhary,M., Ur Rashid,M.M., Kim,J.,
            Kim,H.R. and Chae,H.J.
  TITLE     TMBIM6 regulates redox-associated posttranslational modifications
            of IRE1alpha and ER stress response failure in aging mice and
            humans
  JOURNAL   Redox Biol 47, 102128 (2021)
   PUBMED   34562874
  REMARK    GeneRIF: TMBIM6 regulates redox-associated posttranslational
            modifications of IRE1alpha and ER stress response failure in aging
            mice and humans.
REFERENCE   4  (bases 1 to 2837)
  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 2837)
  AUTHORS   Chang,X., Zhang,T., Meng,Q., ShiyuanWang, Yan,P., Wang,X., Luo,D.,
            Zhou,X. and Ji,R.
  TITLE     Quercetin Improves Cardiomyocyte Vulnerability to Hypoxia by
            Regulating SIRT1/TMBIM6-Related Mitophagy and Endoplasmic Reticulum
            Stress
  JOURNAL   Oxid Med Cell Longev 2021, 5529913 (2021)
   PUBMED   33859776
  REMARK    GeneRIF: Quercetin Improves Cardiomyocyte Vulnerability to Hypoxia
            by Regulating SIRT1/TMBIM6-Related Mitophagy and Endoplasmic
            Reticulum Stress.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2837)
  AUTHORS   Grzmil,M., Thelen,P., Hemmerlein,B., Schweyer,S., Voigt,S., Mury,D.
            and Burfeind,P.
  TITLE     Bax inhibitor-1 is overexpressed in prostate cancer and its
            specific down-regulation by RNA interference leads to cell death in
            human prostate carcinoma cells
  JOURNAL   Am J Pathol 163 (2), 543-552 (2003)
   PUBMED   12875974
  REMARK    GeneRIF: Results indicate that the human Bax inhibitor-1 gene may
            serve as a prostate cancer expression marker based on its
            overexpression in prostate carcinoma and prostate cancer cell
            lines.
REFERENCE   7  (bases 1 to 2837)
  AUTHORS   Jean,J.C., Oakes,S.M. and Joyce-Brady,M.
  TITLE     The Bax inhibitor-1 gene is differentially regulated in adult
            testis and developing lung by two alternative TATA-less promoters
  JOURNAL   Genomics 57 (2), 201-208 (1999)
   PUBMED   10198159
REFERENCE   8  (bases 1 to 2837)
  AUTHORS   Cowling,R.T. and Birnboim,H.C.
  TITLE     Preliminary characterization of the protein encoded by human
            testis-enhanced gene transcript (TEGT)
  JOURNAL   Mol Membr Biol 15 (4), 177-187 (1998)
   PUBMED   10087504
REFERENCE   9  (bases 1 to 2837)
  AUTHORS   Xu,Q. and Reed,J.C.
  TITLE     Bax inhibitor-1, a mammalian apoptosis suppressor identified by
            functional screening in yeast
  JOURNAL   Mol Cell 1 (3), 337-346 (1998)
   PUBMED   9660918
REFERENCE   10 (bases 1 to 2837)
  AUTHORS   Walter,L., Marynen,P., Szpirer,J., Levan,G. and Gunther,E.
  TITLE     Identification of a novel conserved human gene, TEGT
  JOURNAL   Genomics 28 (2), 301-304 (1995)
   PUBMED   8530040
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK130050.1, BQ613936.1 and AA057740.1.
            
            On Nov 23, 2018 this sequence version replaced NM_003217.2.
            
            Transcript Variant: This variant (1) represents the predominant
            transcript and it encodes the shorter protein (isoform 1).
            
            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 :: AK130050.1, SRR3476690.463527.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000267115.10/ ENSP00000267115.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2190              AK130050.1         1-2190
            2191-2625           BQ613936.1         3-437               c
            2626-2837           AA057740.1         2-213               c
FEATURES             Location/Qualifiers
     source          1..2837
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.12"
     gene            1..2837
                     /gene="TMBIM6"
                     /gene_synonym="BAXI1; BI-1; TEGT"
                     /note="transmembrane BAX inhibitor motif containing 6"
                     /db_xref="GeneID:7009"
                     /db_xref="HGNC:HGNC:11723"
                     /db_xref="MIM:600748"
     exon            1..55
                     /gene="TMBIM6"
                     /gene_synonym="BAXI1; BI-1; TEGT"
                     /inference="alignment:Splign:2.1.0"
     exon            56..141
                     /gene="TMBIM6"
                     /gene_synonym="BAXI1; BI-1; TEGT"
                     /inference="alignment:Splign:2.1.0"
     CDS             86..799
                     /gene="TMBIM6"
                     /gene_synonym="BAXI1; BI-1; TEGT"
                     /note="isoform 1 is encoded by transcript variant 1; BAX
                     inhibitor 1; testis-enhanced gene transcript protein;
                     transmembrane BAX inhibitor motif-containing protein 6;
                     testis enhanced gene transcript"
                     /codon_start=1
                     /product="bax inhibitor 1 isoform 1"
                     /protein_id="NP_003208.2"
                     /db_xref="CCDS:CCDS31797.1"
                     /db_xref="GeneID:7009"
                     /db_xref="HGNC:HGNC:11723"
                     /db_xref="MIM:600748"
                     /translation="MNIFDRKINFDALLKFSHITPSTQQHLKKVYASFALCMFVAAAG
                     AYVHMVTHFIQAGLLSALGSLILMIWLMATPHSHETEQKRLGLLAGFAFLTGVGLGPA
                     LEFCIAVNPSILPTAFMGTAMIFTCFTLSALYARRRSYLFLGGILMSALSLLLLSSLG
                     NVFFGSIWLFQANLYVGLVVMCGFVLFDTQLIIEKAEHGDQDYIWHCIDLFLDFITVF
                     RKLMMILAMNEKDKKKEKK"
     exon            142..250
                     /gene="TMBIM6"
                     /gene_synonym="BAXI1; BI-1; TEGT"
                     /inference="alignment:Splign:2.1.0"
     exon            251..371
                     /gene="TMBIM6"
                     /gene_synonym="BAXI1; BI-1; TEGT"
                     /inference="alignment:Splign:2.1.0"
     exon            372..420
                     /gene="TMBIM6"
                     /gene_synonym="BAXI1; BI-1; TEGT"
                     /inference="alignment:Splign:2.1.0"
     exon            421..518
                     /gene="TMBIM6"
                     /gene_synonym="BAXI1; BI-1; TEGT"
                     /inference="alignment:Splign:2.1.0"
     exon            519..598
                     /gene="TMBIM6"
                     /gene_synonym="BAXI1; BI-1; TEGT"
                     /inference="alignment:Splign:2.1.0"
     exon            599..699
                     /gene="TMBIM6"
                     /gene_synonym="BAXI1; BI-1; TEGT"
                     /inference="alignment:Splign:2.1.0"
     exon            700..775
                     /gene="TMBIM6"
                     /gene_synonym="BAXI1; BI-1; TEGT"
                     /inference="alignment:Splign:2.1.0"
     exon            776..2837
                     /gene="TMBIM6"
                     /gene_synonym="BAXI1; BI-1; TEGT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      890..895
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMBIM6"
                     /gene_synonym="BAXI1; BI-1; TEGT"
                     /note="hexamer: AATGAA"
     polyA_site      908
                     /gene="TMBIM6"
                     /gene_synonym="BAXI1; BI-1; TEGT"
                     /note="major polyA site"
     regulatory      2779..2784
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMBIM6"
                     /gene_synonym="BAXI1; BI-1; TEGT"
                     /note="hexamer: AATATA"
     regulatory      2814..2819
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMBIM6"
                     /gene_synonym="BAXI1; BI-1; TEGT"
                     /note="hexamer: AATAAA"
     polyA_site      2815
                     /gene="TMBIM6"
                     /gene_synonym="BAXI1; BI-1; TEGT"
                     /note="major polyA site"
     polyA_site      2837
                     /gene="TMBIM6"
                     /gene_synonym="BAXI1; BI-1; TEGT"
                     /note="major polyA site"
ORIGIN      
        1 agagcacatc cggtgttaga agcgctggta ggccttggag aggcgggtta ggaagagtgg
       61 agactgctgc acggactctg gaaccatgaa catatttgat cgaaagatca actttgatgc
      121 gcttttaaaa ttttctcata taaccccgtc aacgcagcag cacctgaaga aggtctatgc
      181 aagttttgcc ctttgtatgt ttgtggcggc tgcaggggcc tatgtccata tggtcactca
      241 tttcattcag gctggcctgc tgtctgcctt gggctccctg atattgatga tttggctgat
      301 ggcaacacct catagccatg aaactgaaca gaaaagactg ggacttcttg ctggatttgc
      361 attccttaca ggagttggcc tgggccctgc cctggagttt tgtattgctg tcaaccccag
      421 catccttccc actgctttca tgggcacggc aatgatcttt acctgcttca ccctcagtgc
      481 actctatgcc aggcgccgta gctacctctt tctgggaggt atcttgatgt cagccctgag
      541 cttgttgctt ttgtcttccc tggggaatgt tttctttgga tccatttggc ttttccaggc
      601 aaacctgtat gtgggactgg tggtcatgtg tggcttcgtc ctttttgata ctcaactcat
      661 tattgaaaag gccgaacatg gagatcaaga ttatatctgg cactgcattg atctcttctt
      721 agatttcatt actgtcttca gaaaactcat gatgatcctg gccatgaatg aaaaggataa
      781 gaagaaagag aagaaatgaa gtgaccatcc agcctttccc aattagactt cctctccttc
      841 cacccctcat ttcctttttg cacacattac aggtggtgtg ttctgtgata atgaaaagca
      901 tcagaaaagc ttttgtactt tgtggtttcc tctattttga attttttgat caaaaaactg
      961 attagcagaa tatagtttgg agtttggctt catcttcctg gggttcccct cactcccttt
     1021 tttgtcaacc ccatctgtag cctcttcctc tactcaggca gtcgacccgc cacgatgaga
     1081 agtgggacca gcagagggcg ccaacttcag gagtccgctt tcccaccagg cttcattcac
     1141 ccagtggacc tgaactgttt ggtagagcca cccggccctt ccttcctcat tgttgtttgg
     1201 tatgcgcaca gttcctgtgg gactgggccg tgagttttcc attggaaaga agttcagtgg
     1261 tcccattgtt aactcagcct caaatctcaa ctgtcaggcc ctacaaagaa aatggagagc
     1321 ctcttctggt ggatgctttg ctccctctga gctgcccatg ctggtctggc aaacacacct
     1381 ttctgctttg ccttcacaaa agtaatgtgt tccctttccc accccttgcc tgaccctcag
     1441 ggagtcagcc tgcttccatc catgggtggg aagacttcag cacaaaggaa agactaattc
     1501 ttgtcaggca tttttgaaaa ggctgattat gtgtatcaag gtacagcatc gtagggttcc
     1561 cctaaacttg ccctgttttt gtttttttag tttgttatcc ccttactgag cggcctctac
     1621 taggtggctg tgattaaatg tcccaagcaa ggatagggaa ggggaatggt tgagcctctg
     1681 gagatcattg taaccaatcc tgccagacct gtttggggca gtggggagca aacctagata
     1741 aggacctgtt tggggcagca gggagcaaaa tctcctttaa caaccaagca gttcctcatt
     1801 cacatcaaca gagcgaggct gtgataactt aggaggcagc aatcctaata gtccttcagt
     1861 gcattttagt ctgtctccaa ctggacacca gtaggtagtg tcaagccaga gattcggggc
     1921 agtagataaa tgttcatttt actgatgcac tttagttttt ggtctgttac ctgttttcca
     1981 gaaatttgtg gccttttagg cgggagttag gcgaccaaac cagtgagagc cccaatccct
     2041 gcagttttgt ggcttcaagt gtgggtggac agtcctaatg gggatctcca gctccttcct
     2101 gtgggctgcc acagacagct acccccagaa gggtcaatgt tgggagtggt tgtggctctg
     2161 agctgctcta cagagcttca gtgtgagagg atcgagccat tgaaagctca ttaccagtag
     2221 gacataattt ttggctctcc ctattcacaa ccagtgcaca gtttgacaca gtggcctcag
     2281 gttcacagtg caccatgtca ctgtgctatc ctacgaaatc atttgtttct aagttgtgtt
     2341 tattcctgga gtgacatgcc accccgaatg gctcactttc actgaggatg ctgtcctctg
     2401 atttagctgc tgcctccagc ctctggcttg agaacttact aaaggcactt ccttcctgtt
     2461 aaacccctgt taactctcca taaatttggt gattctctgc taggcctaag attttgagtt
     2521 aacatctctt gaagccaaac tccaccttct gtgctttttg cttgggataa tggagttttt
     2581 ctttagaaac agtgccaaga atgacaagat attaaaaaaa aaaaagaaag aaaaaaaaaa
     2641 aaacacctac ttttaaagaa aatacctaac agatttttaa tatagttatc tctaccactt
     2701 tcttttctag tttcttgatt ttcagctcag gctgcattct aactcatact gtgaagacaa
     2761 aggtgttttt gattcagaaa tatatgaaat ctgcatagtc ttaatttgta aaaaataaag
     2821 aaaattcctt aaccttt
//
