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Q9H3K2

- GHITM_HUMAN

UniProt

Q9H3K2 - GHITM_HUMAN

Protein

Growth hormone-inducible transmembrane protein

Gene

GHITM

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 115 (01 Oct 2014)
      Sequence version 2 (14 Aug 2001)
      Previous versions | rss
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    Functioni

    Required for the mitochondrial tubular network and cristae organization. Involved in apoptotic release of cytochrome c.1 Publication

    GO - Molecular functioni

    1. protein binding Source: IntAct

    GO - Biological processi

    1. apoptotic process Source: UniProtKB-KW

    Keywords - Biological processi

    Apoptosis

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Growth hormone-inducible transmembrane protein
    Alternative name(s):
    Dermal papilla-derived protein 2
    Mitochondrial morphology and cristae structure 1
    Short name:
    MICS1
    Transmembrane BAX inhibitor motif-containing protein 5
    Gene namesi
    Name:GHITM
    Synonyms:DERP2, MICS1, TMBIM5
    ORF Names:My021, UNQ244/PRO281
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:17281. GHITM.

    Subcellular locationi

    Mitochondrion inner membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. integral component of membrane Source: UniProtKB-KW
    3. mitochondrial inner membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA28673.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 4444Mitochondrion1 PublicationAdd
    BLAST
    Chaini45 – 345301Growth hormone-inducible transmembrane proteinPRO_0000179119Add
    BLAST

    Proteomic databases

    MaxQBiQ9H3K2.
    PaxDbiQ9H3K2.
    PRIDEiQ9H3K2.

    PTM databases

    PhosphoSiteiQ9H3K2.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9H3K2.
    BgeeiQ9H3K2.
    CleanExiHS_GHITM.
    GenevestigatoriQ9H3K2.

    Organism-specific databases

    HPAiHPA016464.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Sarm1Q6PDS32EBI-2868909,EBI-6117196From a different organism.

    Protein-protein interaction databases

    BioGridi117980. 3 interactions.
    IntActiQ9H3K2. 2 interactions.
    MINTiMINT-3067251.
    STRINGi9606.ENSP00000361207.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H3K2.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini45 – 8238Mitochondrial matrixSequence AnalysisAdd
    BLAST
    Topological domaini104 – 12522Mitochondrial intermembraneSequence AnalysisAdd
    BLAST
    Topological domaini147 – 15913Mitochondrial matrixSequence AnalysisAdd
    BLAST
    Topological domaini181 – 19010Mitochondrial intermembraneSequence Analysis
    Topological domaini212 – 2132Mitochondrial matrixSequence Analysis
    Topological domaini235 – 24410Mitochondrial intermembraneSequence Analysis
    Topological domaini266 – 2716Mitochondrial matrixSequence Analysis
    Topological domaini293 – 34553Mitochondrial intermembraneSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei83 – 10321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei126 – 14621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei160 – 18021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei191 – 21121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei214 – 23421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei245 – 26521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei272 – 29221HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the BI1 family.Curated

    Keywords - Domaini

    Transit peptide, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0670.
    HOGENOMiHOG000013204.
    HOVERGENiHBG051731.
    InParanoidiQ9H3K2.
    OMAiAWMLHSG.
    OrthoDBiEOG7RFTHV.
    PhylomeDBiQ9H3K2.
    TreeFamiTF314017.

    Family and domain databases

    InterProiIPR010539. Bax_inhibitor-1.
    IPR006214. Bax_inhibitor_1-related.
    [Graphical view]
    PANTHERiPTHR23291. PTHR23291. 1 hit.
    PfamiPF01027. Bax1-I. 1 hit.
    PF12811. BaxI_1. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    Q9H3K2-1 [UniParc]FASTAAdd to Basket

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    MLAARLVCLR TLPSRVFHPA FTKASPVVKN SITKNQWLLT PSREYATKTR    50
    IGIRRGRTGQ ELKEAALEPS MEKIFKIDQM GRWFVAGGAA VGLGALCYYG 100
    LGLSNEIGAI EKAVIWPQYV KDRIHSTYMY LAGSIGLTAL SAIAISRTPV 150
    LMNFMMRGSW VTIGVTFAAM VGAGMLVRSI PYDQSPGPKH LAWLLHSGVM 200
    GAVVAPLTIL GGPLLIRAAW YTAGIVGGLS TVAMCAPSEK FLNMGAPLGV 250
    GLGLVFVSSL GSMFLPPTTV AGATLYSVAM YGGLVLFSMF LLYDTQKVIK 300
    RAEVSPMYGV QKYDPINSML SIYMDTLNIF MRVATMLATG GNRKK 345
    Length:345
    Mass (Da):37,205
    Last modified:August 14, 2001 - v2
    Checksum:i808FAED86A9CD98E
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti4 – 41A → V in CAB66648. (PubMed:11230166)Curated
    Sequence conflicti64 – 641E → G in AAG43135. 1 PublicationCurated
    Sequence conflicti74 – 741I → M in CAB66648. (PubMed:11230166)Curated
    Sequence conflicti118 – 1181Q → R in CAB66648. (PubMed:11230166)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB009685 mRNA. Translation: BAA93049.1.
    AF131820 mRNA. Translation: AAD20052.1.
    AF060923 mRNA. Translation: AAG43135.1.
    AL136713 mRNA. Translation: CAB66648.1.
    AY358824 mRNA. Translation: AAQ89183.1.
    AK292864 mRNA. Translation: BAF85553.1.
    AL603756, AC022389 Genomic DNA. Translation: CAH72660.1.
    CH471142 Genomic DNA. Translation: EAW80367.1.
    CH471142 Genomic DNA. Translation: EAW80368.1.
    CH471142 Genomic DNA. Translation: EAW80369.1.
    BC010354 mRNA. Translation: AAH10354.1.
    CCDSiCCDS41542.1.
    RefSeqiNP_055209.2. NM_014394.2.
    UniGeneiHs.352656.

    Genome annotation databases

    EnsembliENST00000372134; ENSP00000361207; ENSG00000165678.
    GeneIDi27069.
    KEGGihsa:27069.
    UCSCiuc001kcs.1. human.

    Polymorphism databases

    DMDMi15213977.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB009685 mRNA. Translation: BAA93049.1 .
    AF131820 mRNA. Translation: AAD20052.1 .
    AF060923 mRNA. Translation: AAG43135.1 .
    AL136713 mRNA. Translation: CAB66648.1 .
    AY358824 mRNA. Translation: AAQ89183.1 .
    AK292864 mRNA. Translation: BAF85553.1 .
    AL603756 , AC022389 Genomic DNA. Translation: CAH72660.1 .
    CH471142 Genomic DNA. Translation: EAW80367.1 .
    CH471142 Genomic DNA. Translation: EAW80368.1 .
    CH471142 Genomic DNA. Translation: EAW80369.1 .
    BC010354 mRNA. Translation: AAH10354.1 .
    CCDSi CCDS41542.1.
    RefSeqi NP_055209.2. NM_014394.2.
    UniGenei Hs.352656.

    3D structure databases

    ProteinModelPortali Q9H3K2.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117980. 3 interactions.
    IntActi Q9H3K2. 2 interactions.
    MINTi MINT-3067251.
    STRINGi 9606.ENSP00000361207.

    PTM databases

    PhosphoSitei Q9H3K2.

    Polymorphism databases

    DMDMi 15213977.

    Proteomic databases

    MaxQBi Q9H3K2.
    PaxDbi Q9H3K2.
    PRIDEi Q9H3K2.

    Protocols and materials databases

    DNASUi 27069.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000372134 ; ENSP00000361207 ; ENSG00000165678 .
    GeneIDi 27069.
    KEGGi hsa:27069.
    UCSCi uc001kcs.1. human.

    Organism-specific databases

    CTDi 27069.
    GeneCardsi GC10P085889.
    HGNCi HGNC:17281. GHITM.
    HPAi HPA016464.
    neXtProti NX_Q9H3K2.
    PharmGKBi PA28673.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0670.
    HOGENOMi HOG000013204.
    HOVERGENi HBG051731.
    InParanoidi Q9H3K2.
    OMAi AWMLHSG.
    OrthoDBi EOG7RFTHV.
    PhylomeDBi Q9H3K2.
    TreeFami TF314017.

    Miscellaneous databases

    ChiTaRSi GHITM. human.
    GeneWikii GHITM.
    GenomeRNAii 27069.
    NextBioi 49655.
    PROi Q9H3K2.

    Gene expression databases

    ArrayExpressi Q9H3K2.
    Bgeei Q9H3K2.
    CleanExi HS_GHITM.
    Genevestigatori Q9H3K2.

    Family and domain databases

    InterProi IPR010539. Bax_inhibitor-1.
    IPR006214. Bax_inhibitor_1-related.
    [Graphical view ]
    PANTHERi PTHR23291. PTHR23291. 1 hit.
    Pfami PF01027. Bax1-I. 1 hit.
    PF12811. BaxI_1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning of a dermal papilla derived gene."
      Ikeda A., Yamashita M., Yoshimoto M.
      Submitted (DEC-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Hair follicle dermal papilla.
    2. Mei G., Yu W., Gibbs R.A.
      Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    3. Mao Y.M., Xie Y., Mu Z.M., Li Y., Huang Y.
      Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Fetal brain.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Kidney.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    6. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Trachea.
    7. "The DNA sequence and comparative analysis of human chromosome 10."
      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.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., 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.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Urinary bladder.
    10. "Identification of a novel protein MICS1 that is involved in maintenance of mitochondrial morphology and apoptotic release of cytochrome c."
      Oka T., Sayano T., Tamai S., Yokota S., Kato H., Fujii G., Mihara K.
      Mol. Biol. Cell 19:2597-2608(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, TRANSIT PEPTIDE CLEAVAGE SITE, MEMBRANE TOPOLOGY.
    11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiGHITM_HUMAN
    AccessioniPrimary (citable) accession number: Q9H3K2
    Secondary accession number(s): A8K9Z9
    , D3DWE0, O95894, Q5VT95, Q9H0P2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 14, 2001
    Last sequence update: August 14, 2001
    Last modified: October 1, 2014
    This is version 115 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 10
      Human chromosome 10: entries, gene names and cross-references to MIM
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3