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Q9H3K2

- GHITM_HUMAN

UniProt

Q9H3K2 - GHITM_HUMAN

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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

Functioni

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

GO - Biological processi

  1. apoptotic process Source: UniProtKB-KW
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini45 – 8238Mitochondrial matrixSequence AnalysisAdd
BLAST
Transmembranei83 – 10321HelicalSequence AnalysisAdd
BLAST
Topological domaini104 – 12522Mitochondrial intermembraneSequence AnalysisAdd
BLAST
Transmembranei126 – 14621HelicalSequence AnalysisAdd
BLAST
Topological domaini147 – 15913Mitochondrial matrixSequence AnalysisAdd
BLAST
Transmembranei160 – 18021HelicalSequence AnalysisAdd
BLAST
Topological domaini181 – 19010Mitochondrial intermembraneSequence Analysis
Transmembranei191 – 21121HelicalSequence AnalysisAdd
BLAST
Topological domaini212 – 2132Mitochondrial matrixSequence Analysis
Transmembranei214 – 23421HelicalSequence AnalysisAdd
BLAST
Topological domaini235 – 24410Mitochondrial intermembraneSequence Analysis
Transmembranei245 – 26521HelicalSequence AnalysisAdd
BLAST
Topological domaini266 – 2716Mitochondrial matrixSequence Analysis
Transmembranei272 – 29221HelicalSequence AnalysisAdd
BLAST
Topological domaini293 – 34553Mitochondrial intermembraneSequence AnalysisAdd
BLAST

GO - Cellular componenti

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

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

BgeeiQ9H3K2.
CleanExiHS_GHITM.
ExpressionAtlasiQ9H3K2. baseline and differential.
GenevestigatoriQ9H3K2.

Organism-specific databases

HPAiHPA016464.

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

BioGridi117980. 17 interactions.
IntActiQ9H3K2. 2 interactions.
MINTiMINT-3067251.
STRINGi9606.ENSP00000361207.

Structurei

3D structure databases

ProteinModelPortaliQ9H3K2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the BI1 family.Curated

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0670.
GeneTreeiENSGT00390000008960.
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

« Hide

        10         20         30         40         50
MLAARLVCLR TLPSRVFHPA FTKASPVVKN SITKNQWLLT PSREYATKTR
60 70 80 90 100
IGIRRGRTGQ ELKEAALEPS MEKIFKIDQM GRWFVAGGAA VGLGALCYYG
110 120 130 140 150
LGLSNEIGAI EKAVIWPQYV KDRIHSTYMY LAGSIGLTAL SAIAISRTPV
160 170 180 190 200
LMNFMMRGSW VTIGVTFAAM VGAGMLVRSI PYDQSPGPKH LAWLLHSGVM
210 220 230 240 250
GAVVAPLTIL GGPLLIRAAW YTAGIVGGLS TVAMCAPSEK FLNMGAPLGV
260 270 280 290 300
GLGLVFVSSL GSMFLPPTTV AGATLYSVAM YGGLVLFSMF LLYDTQKVIK
310 320 330 340
RAEVSPMYGV QKYDPINSML SIYMDTLNIF MRVATMLATG GNRKK
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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. 17 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.
GeneTreei ENSGT00390000008960.
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

Bgeei Q9H3K2.
CleanExi HS_GHITM.
ExpressionAtlasi Q9H3K2. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 116 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