LOCUS       NM_014394               2382 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens growth hormone inducible transmembrane protein
            (GHITM), mRNA.
ACCESSION   NM_014394
VERSION     NM_014394.3
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 2382)
  AUTHORS   Huang,S., Liu,J., Hu,J., Hou,Y., Hu,M., Zhang,B., Luo,H., Fu,S.,
            Chen,Y., Liu,X., Chen,Z. and Wang,L.
  TITLE     GHITM regulates malignant phenotype and sensitivity to PD-1
            blockade of renal cancer cells via Notch signalling
  JOURNAL   J Cell Mol Med 28 (8), e18290 (2024)
   PUBMED   38588015
  REMARK    GeneRIF: GHITM regulates malignant phenotype and sensitivity to
            PD-1 blockade of renal cancer cells via Notch signalling.
REFERENCE   2  (bases 1 to 2382)
  AUTHORS   Zhou,Y., Liu,Y., Gupta,S., Paramo,M.I., Hou,Y., Mao,C., Luo,Y.,
            Judd,J., Wierbowski,S., Bertolotti,M., Nerkar,M., Jehi,L.,
            Drayman,N., Nicolaescu,V., Gula,H., Tay,S., Randall,G., Wang,P.,
            Lis,J.T., Feschotte,C., Erzurum,S.C., Cheng,F. and Yu,H.
  TITLE     A comprehensive SARS-CoV-2-human protein-protein interactome
            reveals COVID-19 pathobiology and potential host therapeutic
            targets
  JOURNAL   Nat Biotechnol 41 (1), 128-139 (2023)
   PUBMED   36217030
REFERENCE   3  (bases 1 to 2382)
  AUTHORS   Austin,S., Mekis,R., Mohammed,S.E.M., Scalise,M., Wang,W.A.,
            Galluccio,M., Pfeiffer,C., Borovec,T., Parapatics,K., Vitko,D.,
            Dinhopl,N., Demaurex,N., Bennett,K.L., Indiveri,C. and
            Nowikovsky,K.
  TITLE     TMBIM5 is the Ca2+ /H+ antiporter of mammalian mitochondria
  JOURNAL   EMBO Rep 23 (12), e54978 (2022)
   PUBMED   36321428
REFERENCE   4  (bases 1 to 2382)
  AUTHORS   Patron,M., Tarasenko,D., Nolte,H., Kroczek,L., Ghosh,M., Ohba,Y.,
            Lasarzewski,Y., Ahmadi,Z.A., Cabrera-Orefice,A., Eyiama,A.,
            Kellermann,T., Rugarli,E.I., Brandt,U., Meinecke,M. and Langer,T.
  TITLE     Regulation of mitochondrial proteostasis by the proton gradient
  JOURNAL   EMBO J 41 (16), e110476 (2022)
   PUBMED   35912435
REFERENCE   5  (bases 1 to 2382)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   6  (bases 1 to 2382)
  AUTHORS   Zhou,J., Zhu,T., Hu,C., Li,H., Chen,G., Xu,G., Wang,S., Zhou,J. and
            Ma,D.
  TITLE     Comparative genomics and function analysis on BI1 family
  JOURNAL   Comput Biol Chem 32 (3), 159-162 (2008)
   PUBMED   18440869
  REMARK    GeneRIF: The tmbim5 may participate in cell death regulation by
            interacting with proteins of Bcl-2 family, promoting tumor
            metastasis, which is deduced from the evolutionary conservation of
            the membrane protein family containing multiple membrane spanning
            segments
REFERENCE   7  (bases 1 to 2382)
  AUTHORS   Oka,T., Sayano,T., Tamai,S., Yokota,S., Kato,H., Fujii,G. and
            Mihara,K.
  TITLE     Identification of a novel protein MICS1 that is involved in
            maintenance of mitochondrial morphology and apoptotic release of
            cytochrome c
  JOURNAL   Mol Biol Cell 19 (6), 2597-2608 (2008)
   PUBMED   18417609
  REMARK    GeneRIF: MICS1 individually functions in mitochondrial morphology
            and cytochrome c release.
REFERENCE   8  (bases 1 to 2382)
  AUTHORS   Grupe,A., Li,Y., Rowland,C., Nowotny,P., Hinrichs,A.L., Smemo,S.,
            Kauwe,J.S., Maxwell,T.J., Cherny,S., Doil,L., Tacey,K., van
            Luchene,R., Myers,A., Wavrant-De Vrieze,F., Kaleem,M.,
            Hollingworth,P., Jehu,L., Foy,C., Archer,N., Hamilton,G.,
            Holmans,P., Morris,C.M., Catanese,J., Sninsky,J., White,T.J.,
            Powell,J., Hardy,J., O'Donovan,M., Lovestone,S., Jones,L.,
            Morris,J.C., Thal,L., Owen,M., Williams,J. and Goate,A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 2382)
  AUTHORS   Deloukas,P., Earthrowl,M.E., Grafham,D.V., Rubenfield,M.,
            French,L., Steward,C.A., Sims,S.K., Jones,M.C., Searle,S.,
            Scott,C., Howe,K., Hunt,S.E., Andrews,T.D., Gilbert,J.G.,
            Swarbreck,D., Ashurst,J.L., Taylor,A., Battles,J., Bird,C.P.,
            Ainscough,R., Almeida,J.P., Ashwell,R.I., Ambrose,K.D.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Bates,K.,
            Beasley,H., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.C.,
            Burrill,W., Burton,J., Cahill,P., Camire,D., Carter,N.P.,
            Chapman,J.C., Clark,S.Y., Clarke,G., Clee,C.M., Clegg,S., Corby,N.,
            Coulson,A., Dhami,P., Dutta,I., Dunn,M., Faulkner,L., Frankish,A.,
            Frankland,J.A., Garner,P., Garnett,J., Gribble,S., Griffiths,C.,
            Grocock,R., Gustafson,E., Hammond,S., Harley,J.L., Hart,E.,
            Heath,P.D., Ho,T.P., Hopkins,B., Horne,J., Howden,P.J., Huckle,E.,
            Hynds,C., Johnson,C., Johnson,D., Kana,A., Kay,M., Kimberley,A.M.,
            Kershaw,J.K., Kokkinaki,M., Laird,G.K., Lawlor,S., Lee,H.M.,
            Leongamornlert,D.A., Laird,G., Lloyd,C., Lloyd,D.M., Loveland,J.,
            Lovell,J., McLaren,S., McLay,K.E., McMurray,A.,
            Mashreghi-Mohammadi,M., Matthews,L., Milne,S., Nickerson,T.,
            Nguyen,M., Overton-Larty,E., Palmer,S.A., Pearce,A.V., Peck,A.I.,
            Pelan,S., Phillimore,B., Porter,K., Rice,C.M., Rogosin,A.,
            Ross,M.T., Sarafidou,T., Sehra,H.K., Shownkeen,R., Skuce,C.D.,
            Smith,M., Standring,L., Sycamore,N., Tester,J., Thorpe,A.,
            Torcasso,W., Tracey,A., Tromans,A., Tsolas,J., Wall,M., Walsh,J.,
            Wang,H., Weinstock,K., West,A.P., Willey,D.L., Whitehead,S.L.,
            Wilming,L., Wray,P.W., Young,L., Chen,Y., Lovering,R.C.,
            Moschonas,N.K., Siebert,R., Fechtel,K., Bentley,D., Durbin,R.,
            Hubbard,T., Doucette-Stamm,L., Beck,S., Smith,D.R. and Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
REFERENCE   10 (bases 1 to 2382)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL603756.8, BC010354.1 and AC022389.9.
            
            On Nov 22, 2018 this sequence version replaced NM_014394.2.
            
            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 :: SRR1803611.174360.1,
                                           SRR1803615.97173.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372134.6/ ENSP00000361207.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-50                AL603756.8         30676-30725
            51-1988             BC010354.1         2-1939
            1989-2369           AC022389.9         11589-11969
            2370-2382           AC022389.9         11970-11982
FEATURES             Location/Qualifiers
     source          1..2382
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.1"
     gene            1..2382
                     /gene="GHITM"
                     /gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
                     TMBIM5"
                     /note="growth hormone inducible transmembrane protein"
                     /db_xref="GeneID:27069"
                     /db_xref="HGNC:HGNC:17281"
                     /db_xref="MIM:619205"
     exon            1..85
                     /gene="GHITM"
                     /gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
                     TMBIM5"
                     /inference="alignment:Splign:2.1.0"
     exon            86..253
                     /gene="GHITM"
                     /gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
                     TMBIM5"
                     /inference="alignment:Splign:2.1.0"
     CDS             125..1162
                     /gene="GHITM"
                     /gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
                     TMBIM5"
                     /note="mitochondrial morphology and cristae structure 1;
                     transmembrane BAX inhibitor motif containing 5; dermal
                     papilla-derived protein 2; transmembrane BAX inhibitor
                     motif-containing protein 5"
                     /codon_start=1
                     /product="growth hormone-inducible transmembrane protein"
                     /protein_id="NP_055209.2"
                     /db_xref="CCDS:CCDS41542.1"
                     /db_xref="GeneID:27069"
                     /db_xref="HGNC:HGNC:17281"
                     /db_xref="MIM:619205"
                     /translation="MLAARLVCLRTLPSRVFHPAFTKASPVVKNSITKNQWLLTPSRE
                     YATKTRIGIRRGRTGQELKEAALEPSMEKIFKIDQMGRWFVAGGAAVGLGALCYYGLG
                     LSNEIGAIEKAVIWPQYVKDRIHSTYMYLAGSIGLTALSAIAISRTPVLMNFMMRGSW
                     VTIGVTFAAMVGAGMLVRSIPYDQSPGPKHLAWLLHSGVMGAVVAPLTILGGPLLIRA
                     AWYTAGIVGGLSTVAMCAPSEKFLNMGAPLGVGLGLVFVSSLGSMFLPPTTVAGATLY
                     SVAMYGGLVLFSMFLLYDTQKVIKRAEVSPMYGVQKYDPINSMLSIYMDTLNIFMRVA
                     TMLATGGNRKK"
     exon            254..353
                     /gene="GHITM"
                     /gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
                     TMBIM5"
                     /inference="alignment:Splign:2.1.0"
     exon            354..465
                     /gene="GHITM"
                     /gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
                     TMBIM5"
                     /inference="alignment:Splign:2.1.0"
     exon            466..607
                     /gene="GHITM"
                     /gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
                     TMBIM5"
                     /inference="alignment:Splign:2.1.0"
     exon            608..716
                     /gene="GHITM"
                     /gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
                     TMBIM5"
                     /inference="alignment:Splign:2.1.0"
     exon            717..905
                     /gene="GHITM"
                     /gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
                     TMBIM5"
                     /inference="alignment:Splign:2.1.0"
     exon            906..1077
                     /gene="GHITM"
                     /gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
                     TMBIM5"
                     /inference="alignment:Splign:2.1.0"
     exon            1078..2382
                     /gene="GHITM"
                     /gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
                     TMBIM5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1336..1341
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GHITM"
                     /gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
                     TMBIM5"
                     /note="hexamer: AATAAA"
     polyA_site      1361
                     /gene="GHITM"
                     /gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
                     TMBIM5"
                     /note="major polyA site"
     regulatory      1968..1973
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GHITM"
                     /gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
                     TMBIM5"
                     /note="hexamer: AATACA"
     polyA_site      1989
                     /gene="GHITM"
                     /gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
                     TMBIM5"
                     /note="major polyA site"
     regulatory      2038..2043
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GHITM"
                     /gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
                     TMBIM5"
                     /note="hexamer: AATACA"
     polyA_site      2061
                     /gene="GHITM"
                     /gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
                     TMBIM5"
     polyA_site      2137
                     /gene="GHITM"
                     /gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
                     TMBIM5"
     regulatory      2174..2179
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GHITM"
                     /gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
                     TMBIM5"
                     /note="hexamer: ACTAAA"
     polyA_site      2197
                     /gene="GHITM"
                     /gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
                     TMBIM5"
     regulatory      2216..2221
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GHITM"
                     /gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
                     TMBIM5"
                     /note="hexamer: AATATA"
     polyA_site      2238
                     /gene="GHITM"
                     /gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
                     TMBIM5"
     regulatory      2361..2366
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GHITM"
                     /gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
                     TMBIM5"
                     /note="hexamer: AATGAA"
     polyA_site      2382
                     /gene="GHITM"
                     /gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
                     TMBIM5"
ORIGIN      
        1 agtgcgccgg aggaactgtg ctctttgagg ccgacgctag gggcccggaa gggaaactgc
       61 gaggcgaagg tgaccgggga ccgagcattt cagatctgct cggtagacct ggtgcaccac
      121 caccatgttg gctgcaaggc tggtgtgtct ccggacacta ccttctaggg ttttccaccc
      181 agctttcacc aaggcctccc ctgttgtgaa gaattccatc acgaagaatc aatggctgtt
      241 aacacctagc agggaatatg ccaccaaaac aagaattggg atccggcgtg ggagaactgg
      301 ccaagaactc aaagaggcag cattggaacc atcgatggaa aaaatattta aaattgatca
      361 gatgggaaga tggtttgttg ctggaggggc tgctgttggt cttggagcat tgtgctacta
      421 tggcttggga ctgtctaatg agattggagc tattgaaaag gctgtaattt ggcctcagta
      481 tgtcaaggat agaattcatt ccacctatat gtacttagca gggagtattg gtttaacagc
      541 tttgtctgcc atagcaatca gcagaacgcc tgttctcatg aacttcatga tgagaggctc
      601 ttgggtgaca attggtgtga cctttgcagc catggttgga gctggaatgc tggtacgatc
      661 aataccatat gaccagagcc caggcccaaa gcatcttgct tggttgctac attctggtgt
      721 gatgggtgca gtggtggctc ctctgacaat attagggggt cctcttctca tcagagctgc
      781 atggtacaca gctggcattg tgggaggcct ctccactgtg gccatgtgtg cgcccagtga
      841 aaagtttctg aacatgggtg cacccctggg agtgggcctg ggtctcgtct ttgtgtcctc
      901 attgggatct atgtttcttc cacctaccac cgtggctggt gccactcttt actcagtggc
      961 aatgtacggt ggattagttc ttttcagcat gttccttctg tatgataccc agaaagtaat
     1021 caagcgtgca gaagtatcac caatgtatgg agttcaaaaa tatgatccca ttaactcgat
     1081 gctgagtatc tacatggata cattaaatat atttatgcga gttgcaacta tgctggcaac
     1141 tggaggcaac agaaagaaat gaagtgactc agcttctggc ttctctgcta catcaaatat
     1201 cttgtttaat ggggcagata tgcattaaat agtttgtaca agcagctttc gttgaagttt
     1261 agaagataag aaacatgtca tcatatttaa atgttccggt aatgtgatgc ctcaggtctg
     1321 cctttttttc tggagaataa atgcagtaat cctctcccaa ataagcacac acattttcaa
     1381 ttctcatgtt tgagtgattt taaaatgttt tggtgaatgt gaaaactaaa gtttgtgtca
     1441 tgagaatgta agtctttttt ctactttaaa atttagtagg ttcactgagt aactaaaatt
     1501 tagcaaacct gtgtttgcat atttttttgg agtgcagaat attgtaatta atgtcataag
     1561 tgatttggag ctttggtaaa gggaccagag agaaggagtc acctgcagtc ttttgttttt
     1621 ttaaatactt agaacttagc acttgtgtta ttgattagtg aggagccagt aagaaacatc
     1681 tgggtatttg gaaacaagtg gtcattgtta cattcatctg ctgaacttaa caaaactgtt
     1741 catcctgaaa caggcacagg tgatgcattc tcctgctgtt gcttctcagt gctctctttc
     1801 caatatagat gtggtcatgt ttgacttgta cagaatgtta atcatacaga gaatccttga
     1861 tggaattata tatgtgtgtt ttacttttga atgttacaaa aggaaataac tttaaaacta
     1921 ttctcaagag aaaatattca aagcatgaaa tatgttgctt tttccagaat acaaacagta
     1981 tactcatgat tgctaagtgt ttttttattt ttgcatattt attgaactgt ctaattgaat
     2041 acagcttgct cttgtcacct cttcaagctt tcaagccttt atagaaaagc ttctttgtgg
     2101 cttacactgg aaattatgaa agcagttttt ctcctaagac ttttggtttc tcgcattgcc
     2161 tctcagacta agcactaaaa agcaaagcaa aacagaacta gttctgtctt aatgaaatat
     2221 atcaacccaa aagtgtaatg aggaaaatgc ttcattagtt tcccctagca gacttttact
     2281 tctcttacac tgctacacca ttactttctt gagacatttg taagttcttt gatacagaag
     2341 agttatattt agaagtcttt aatgaaggga aagaagtctg ta
//
