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Q9H3K2 (GHITM_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 114. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:GHITM
Synonyms:DERP2, MICS1, TMBIM5
ORF Names:My021, UNQ244/PRO281
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length345 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Required for the mitochondrial tubular network and cristae organization. Involved in apoptotic release of cytochrome c. Ref.10

Subcellular location

Mitochondrion inner membrane; Multi-pass membrane protein Ref.10.

Sequence similarities

Belongs to the BI1 family.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Sarm1Q6PDS32EBI-2868909,EBI-6117196From a different organism.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 4444Mitochondrion Probable
Chain45 – 345301Growth hormone-inducible transmembrane protein
PRO_0000179119

Regions

Topological domain45 – 8238Mitochondrial matrix Potential
Transmembrane83 – 10321Helical; Potential
Topological domain104 – 12522Mitochondrial intermembrane Potential
Transmembrane126 – 14621Helical; Potential
Topological domain147 – 15913Mitochondrial matrix Potential
Transmembrane160 – 18021Helical; Potential
Topological domain181 – 19010Mitochondrial intermembrane Potential
Transmembrane191 – 21121Helical; Potential
Topological domain212 – 2132Mitochondrial matrix Potential
Transmembrane214 – 23421Helical; Potential
Topological domain235 – 24410Mitochondrial intermembrane Potential
Transmembrane245 – 26521Helical; Potential
Topological domain266 – 2716Mitochondrial matrix Potential
Transmembrane272 – 29221Helical; Potential
Topological domain293 – 34553Mitochondrial intermembrane Potential

Experimental info

Sequence conflict41A → V in CAB66648. Ref.4
Sequence conflict641E → G in AAG43135. Ref.3
Sequence conflict741I → M in CAB66648. Ref.4
Sequence conflict1181Q → R in CAB66648. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Q9H3K2 [UniParc].

Last modified August 14, 2001. Version 2.
Checksum: 808FAED86A9CD98E

FASTA34537,205
        10         20         30         40         50         60 
MLAARLVCLR TLPSRVFHPA FTKASPVVKN SITKNQWLLT PSREYATKTR IGIRRGRTGQ 

        70         80         90        100        110        120 
ELKEAALEPS MEKIFKIDQM GRWFVAGGAA VGLGALCYYG LGLSNEIGAI EKAVIWPQYV 

       130        140        150        160        170        180 
KDRIHSTYMY LAGSIGLTAL SAIAISRTPV LMNFMMRGSW VTIGVTFAAM VGAGMLVRSI 

       190        200        210        220        230        240 
PYDQSPGPKH LAWLLHSGVM GAVVAPLTIL GGPLLIRAAW YTAGIVGGLS TVAMCAPSEK 

       250        260        270        280        290        300 
FLNMGAPLGV GLGLVFVSSL GSMFLPPTTV AGATLYSVAM YGGLVLFSMF LLYDTQKVIK 

       310        320        330        340 
RAEVSPMYGV QKYDPINSML SIYMDTLNIF MRVATMLATG GNRKK 

« Hide

References

« Hide 'large scale' references
[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]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Kidney.
[5]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS41542.1.
RefSeqNP_055209.2. NM_014394.2.
UniGeneHs.352656.

3D structure databases

ProteinModelPortalQ9H3K2.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117980. 3 interactions.
IntActQ9H3K2. 2 interactions.
MINTMINT-3067251.
STRING9606.ENSP00000361207.

PTM databases

PhosphoSiteQ9H3K2.

Polymorphism databases

DMDM15213977.

Proteomic databases

MaxQBQ9H3K2.
PaxDbQ9H3K2.
PRIDEQ9H3K2.

Protocols and materials databases

DNASU27069.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000372134; ENSP00000361207; ENSG00000165678.
GeneID27069.
KEGGhsa:27069.
UCSCuc001kcs.1. human.

Organism-specific databases

CTD27069.
GeneCardsGC10P085889.
HGNCHGNC:17281. GHITM.
HPAHPA016464.
neXtProtNX_Q9H3K2.
PharmGKBPA28673.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0670.
HOGENOMHOG000013204.
HOVERGENHBG051731.
InParanoidQ9H3K2.
OMAAWMLHSG.
OrthoDBEOG7RFTHV.
PhylomeDBQ9H3K2.
TreeFamTF314017.

Gene expression databases

ArrayExpressQ9H3K2.
BgeeQ9H3K2.
CleanExHS_GHITM.
GenevestigatorQ9H3K2.

Family and domain databases

InterProIPR010539. Bax_inhibitor-1.
IPR006214. Bax_inhibitor_1-related.
[Graphical view]
PANTHERPTHR23291. PTHR23291. 1 hit.
PfamPF01027. Bax1-I. 1 hit.
PF12811. BaxI_1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSGHITM. human.
GeneWikiGHITM.
GenomeRNAi27069.
NextBio49655.
PROQ9H3K2.

Entry information

Entry nameGHITM_HUMAN
AccessionPrimary (citable) accession number: Q9H3K2
Secondary accession number(s): A8K9Z9 expand/collapse secondary AC list , D3DWE0, O95894, Q5VT95, Q9H0P2
Entry history
Integrated into UniProtKB/Swiss-Prot: August 14, 2001
Last sequence update: August 14, 2001
Last modified: July 9, 2014
This is version 114 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM