GHITM_HUMAN
ID GHITM_HUMAN Reviewed; 345 AA.
AC Q9H3K2; A8K9Z9; D3DWE0; O95894; Q5VT95; Q9H0P2;
DT 14-AUG-2001, integrated into UniProtKB/Swiss-Prot.
DT 14-AUG-2001, sequence version 2.
DT 03-AUG-2022, entry version 169.
DE RecName: Full=Growth hormone-inducible transmembrane protein;
DE AltName: Full=Dermal papilla-derived protein 2;
DE AltName: Full=Mitochondrial morphology and cristae structure 1;
DE Short=MICS1;
DE AltName: Full=Transmembrane BAX inhibitor motif-containing protein 5;
DE Flags: Precursor;
GN Name=GHITM; Synonyms=DERP2, MICS1, TMBIM5; ORFNames=My021, UNQ244/PRO281;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Hair follicle dermal papilla;
RA Ikeda A., Yamashita M., Yoshimoto M.;
RT "Molecular cloning of a dermal papilla derived gene.";
RL Submitted (DEC-1997) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RA Mei G., Yu W., Gibbs R.A.;
RL Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Fetal brain;
RA Mao Y.M., Xie Y., Mu Z.M., Li Y., Huang Y.;
RL Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Kidney;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Trachea;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Urinary bladder;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [10]
RP FUNCTION, SUBCELLULAR LOCATION, AND MEMBRANE TOPOLOGY.
RX PubMed=18417609; DOI=10.1091/mbc.e07-12-1205;
RA Oka T., Sayano T., Tamai S., Yokota S., Kato H., Fujii G., Mihara K.;
RT "Identification of a novel protein MICS1 that is involved in maintenance of
RT mitochondrial morphology and apoptotic release of cytochrome c.";
RL Mol. Biol. Cell 19:2597-2608(2008).
RN [11]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [12]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
CC -!- FUNCTION: Required for the mitochondrial tubular network and cristae
CC organization. Involved in apoptotic release of cytochrome c.
CC {ECO:0000269|PubMed:18417609}.
CC -!- INTERACTION:
CC Q9H3K2; Q5JX71: FAM209A; NbExp=3; IntAct=EBI-2868909, EBI-18304435;
CC Q9H3K2; Q14802-3: FXYD3; NbExp=3; IntAct=EBI-2868909, EBI-12175685;
CC Q9H3K2; Q96MG2: JSRP1; NbExp=3; IntAct=EBI-2868909, EBI-11305455;
CC Q9H3K2; P13473-2: LAMP2; NbExp=3; IntAct=EBI-2868909, EBI-21591415;
CC Q9H3K2; O15173: PGRMC2; NbExp=3; IntAct=EBI-2868909, EBI-1050125;
CC Q9H3K2; Q9Y371: SH3GLB1; NbExp=3; IntAct=EBI-2868909, EBI-2623095;
CC Q9H3K2; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-2868909, EBI-5235340;
CC Q9H3K2; Q9NWH2: TMEM242; NbExp=3; IntAct=EBI-2868909, EBI-10315004;
CC Q9H3K2; P54577: YARS1; NbExp=3; IntAct=EBI-2868909, EBI-1048893;
CC Q9H3K2; Q6PDS3: Sarm1; Xeno; NbExp=2; IntAct=EBI-2868909, EBI-6117196;
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC {ECO:0000269|PubMed:18417609}; Multi-pass membrane protein
CC {ECO:0000269|PubMed:18417609}.
CC -!- SIMILARITY: Belongs to the BI1 family. {ECO:0000305}.
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DR EMBL; AB009685; BAA93049.1; -; mRNA.
DR EMBL; AF131820; AAD20052.1; -; mRNA.
DR EMBL; AF060923; AAG43135.1; -; mRNA.
DR EMBL; AL136713; CAB66648.1; -; mRNA.
DR EMBL; AY358824; AAQ89183.1; -; mRNA.
DR EMBL; AK292864; BAF85553.1; -; mRNA.
DR EMBL; AC022389; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL603756; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471142; EAW80367.1; -; Genomic_DNA.
DR EMBL; CH471142; EAW80368.1; -; Genomic_DNA.
DR EMBL; CH471142; EAW80369.1; -; Genomic_DNA.
DR EMBL; BC010354; AAH10354.1; -; mRNA.
DR CCDS; CCDS41542.1; -.
DR RefSeq; NP_055209.2; NM_014394.2.
DR AlphaFoldDB; Q9H3K2; -.
DR BioGRID; 117980; 163.
DR IntAct; Q9H3K2; 61.
DR MINT; Q9H3K2; -.
DR STRING; 9606.ENSP00000361207; -.
DR GlyGen; Q9H3K2; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9H3K2; -.
DR MetOSite; Q9H3K2; -.
DR PhosphoSitePlus; Q9H3K2; -.
DR SwissPalm; Q9H3K2; -.
DR BioMuta; GHITM; -.
DR DMDM; 15213977; -.
DR EPD; Q9H3K2; -.
DR jPOST; Q9H3K2; -.
DR MassIVE; Q9H3K2; -.
DR MaxQB; Q9H3K2; -.
DR PaxDb; Q9H3K2; -.
DR PeptideAtlas; Q9H3K2; -.
DR PRIDE; Q9H3K2; -.
DR ProteomicsDB; 80725; -.
DR TopDownProteomics; Q9H3K2; -.
DR Antibodypedia; 8062; 244 antibodies from 32 providers.
DR DNASU; 27069; -.
DR Ensembl; ENST00000372134.6; ENSP00000361207.3; ENSG00000165678.22.
DR Ensembl; ENST00000686247.1; ENSP00000509112.1; ENSG00000165678.22.
DR Ensembl; ENST00000686583.1; ENSP00000510236.1; ENSG00000165678.22.
DR Ensembl; ENST00000687085.1; ENSP00000510576.1; ENSG00000165678.22.
DR Ensembl; ENST00000688802.1; ENSP00000509674.1; ENSG00000165678.22.
DR Ensembl; ENST00000690067.1; ENSP00000508495.1; ENSG00000165678.22.
DR Ensembl; ENST00000690283.1; ENSP00000508559.1; ENSG00000165678.22.
DR Ensembl; ENST00000690920.1; ENSP00000509697.1; ENSG00000165678.22.
DR Ensembl; ENST00000691155.1; ENSP00000510216.1; ENSG00000165678.22.
DR Ensembl; ENST00000691609.1; ENSP00000509708.1; ENSG00000165678.22.
DR GeneID; 27069; -.
DR KEGG; hsa:27069; -.
DR MANE-Select; ENST00000372134.6; ENSP00000361207.3; NM_014394.3; NP_055209.2.
DR UCSC; uc001kcs.2; human.
DR CTD; 27069; -.
DR GeneCards; GHITM; -.
DR HGNC; HGNC:17281; GHITM.
DR HPA; ENSG00000165678; Low tissue specificity.
DR MIM; 619205; gene.
DR neXtProt; NX_Q9H3K2; -.
DR OpenTargets; ENSG00000165678; -.
DR PharmGKB; PA28673; -.
DR VEuPathDB; HostDB:ENSG00000165678; -.
DR eggNOG; KOG1630; Eukaryota.
DR GeneTree; ENSGT01050000244940; -.
DR HOGENOM; CLU_050797_1_0_1; -.
DR InParanoid; Q9H3K2; -.
DR OMA; MYGTFYT; -.
DR OrthoDB; 1228054at2759; -.
DR PhylomeDB; Q9H3K2; -.
DR TreeFam; TF314017; -.
DR PathwayCommons; Q9H3K2; -.
DR SignaLink; Q9H3K2; -.
DR SIGNOR; Q9H3K2; -.
DR BioGRID-ORCS; 27069; 9 hits in 1084 CRISPR screens.
DR ChiTaRS; GHITM; human.
DR GeneWiki; GHITM; -.
DR GenomeRNAi; 27069; -.
DR Pharos; Q9H3K2; Tbio.
DR PRO; PR:Q9H3K2; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q9H3K2; protein.
DR Bgee; ENSG00000165678; Expressed in sperm and 203 other tissues.
DR Genevisible; Q9H3K2; HS.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0031305; C:integral component of mitochondrial inner membrane; IDA:FlyBase.
DR GO; GO:0016020; C:membrane; IBA:GO_Central.
DR GO; GO:0005739; C:mitochondrion; IDA:HPA.
DR GO; GO:0006915; P:apoptotic process; IEA:UniProtKB-KW.
DR GO; GO:0007007; P:inner mitochondrial membrane organization; IMP:FlyBase.
DR GO; GO:0090201; P:negative regulation of release of cytochrome c from mitochondria; IMP:FlyBase.
DR GO; GO:1905448; P:positive regulation of mitochondrial ATP synthesis coupled electron transport; ISS:FlyBase.
DR CDD; cd10431; GHITM; 1.
DR InterPro; IPR006214; Bax_inhibitor_1-related.
DR InterPro; IPR035871; GHITM.
DR PANTHER; PTHR23291; PTHR23291; 1.
DR Pfam; PF01027; Bax1-I; 1.
PE 1: Evidence at protein level;
KW Apoptosis; Membrane; Mitochondrion; Mitochondrion inner membrane;
KW Reference proteome; Transit peptide; Transmembrane; Transmembrane helix.
FT TRANSIT 1..45
FT /note="Mitochondrion"
FT /evidence="ECO:0000255"
FT CHAIN 46..345
FT /note="Growth hormone-inducible transmembrane protein"
FT /id="PRO_0000179119"
FT TOPO_DOM 46..82
FT /note="Mitochondrial matrix"
FT /evidence="ECO:0000255"
FT TRANSMEM 83..103
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 104..125
FT /note="Mitochondrial intermembrane"
FT /evidence="ECO:0000255"
FT TRANSMEM 126..146
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 147..159
FT /note="Mitochondrial matrix"
FT /evidence="ECO:0000255"
FT TRANSMEM 160..180
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 181..190
FT /note="Mitochondrial intermembrane"
FT /evidence="ECO:0000255"
FT TRANSMEM 191..211
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 212..213
FT /note="Mitochondrial matrix"
FT /evidence="ECO:0000255"
FT TRANSMEM 214..234
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 235..244
FT /note="Mitochondrial intermembrane"
FT /evidence="ECO:0000255"
FT TRANSMEM 245..265
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 266..271
FT /note="Mitochondrial matrix"
FT /evidence="ECO:0000255"
FT TRANSMEM 272..292
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 293..345
FT /note="Mitochondrial intermembrane"
FT /evidence="ECO:0000255"
FT CONFLICT 4
FT /note="A -> V (in Ref. 4; CAB66648)"
FT /evidence="ECO:0000305"
FT CONFLICT 64
FT /note="E -> G (in Ref. 3; AAG43135)"
FT /evidence="ECO:0000305"
FT CONFLICT 74
FT /note="I -> M (in Ref. 4; CAB66648)"
FT /evidence="ECO:0000305"
FT CONFLICT 118
FT /note="Q -> R (in Ref. 4; CAB66648)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 345 AA; 37205 MW; 808FAED86A9CD98E CRC64;
MLAARLVCLR TLPSRVFHPA FTKASPVVKN SITKNQWLLT PSREYATKTR IGIRRGRTGQ
ELKEAALEPS MEKIFKIDQM GRWFVAGGAA VGLGALCYYG LGLSNEIGAI EKAVIWPQYV
KDRIHSTYMY LAGSIGLTAL SAIAISRTPV LMNFMMRGSW VTIGVTFAAM VGAGMLVRSI
PYDQSPGPKH LAWLLHSGVM GAVVAPLTIL GGPLLIRAAW YTAGIVGGLS TVAMCAPSEK
FLNMGAPLGV GLGLVFVSSL GSMFLPPTTV AGATLYSVAM YGGLVLFSMF LLYDTQKVIK
RAEVSPMYGV QKYDPINSML SIYMDTLNIF MRVATMLATG GNRKK
