Q9H3K2 (GHITM_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	GHITM
Synonyms:	DERP2, MICS1, TMBIM5
ORF Names:	My021, UNQ244/PRO281

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	345 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Apoptosis
Cellular component	Membrane Mitochondrion Mitochondrion inner membrane
Domain	Transit peptide Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	apoptotic process Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	integral to membrane Non-traceable author statement. Source: UniProtKB mitochondrial inner membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
Sarm1	Q6PDS3	2	EBI-2868909,EBI-6117196	From a different organism.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 44	44	Mitochondrion Probable
	Chain	45 – 345	301	Growth hormone-inducible transmembrane protein		PRO_0000179119
Regions
	Topological domain	45 – 82	38	Mitochondrial matrix Potential
	Transmembrane	83 – 103	21	Helical; Potential
	Topological domain	104 – 125	22	Mitochondrial intermembrane Potential
	Transmembrane	126 – 146	21	Helical; Potential
	Topological domain	147 – 159	13	Mitochondrial matrix Potential
	Transmembrane	160 – 180	21	Helical; Potential
	Topological domain	181 – 190	10	Mitochondrial intermembrane Potential
	Transmembrane	191 – 211	21	Helical; Potential
	Topological domain	212 – 213	2	Mitochondrial matrix Potential
	Transmembrane	214 – 234	21	Helical; Potential
	Topological domain	235 – 244	10	Mitochondrial intermembrane Potential
	Transmembrane	245 – 265	21	Helical; Potential
	Topological domain	266 – 271	6	Mitochondrial matrix Potential
	Transmembrane	272 – 292	21	Helical; Potential
	Topological domain	293 – 345	53	Mitochondrial intermembrane Potential
Experimental info
	Sequence conflict	4	1	A → V in CAB66648. Ref.4
	Sequence conflict	64	1	E → G in AAG43135. Ref.3
	Sequence conflict	74	1	I → M in CAB66648. Ref.4
	Sequence conflict	118	1	Q → R in CAB66648. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Q9H3K2 [UniParc]. Last modified August 14, 2001. Version 2. Checksum: 808FAED86A9CD98E	FASTA	345	37,205
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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]	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. , 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, 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.
IPI	IPI00909387.
RefSeq	NP_055209.2. NM_014394.2.
UniGene	Hs.352656.
3D structure databases
ProteinModelPortal	Q9H3K2.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9H3K2. 2 interactions.
STRING	9606.ENSP00000361207.
PTM databases
PhosphoSite	Q9H3K2.
Polymorphism databases
DMDM	15213977.
Proteomic databases
PaxDb	Q9H3K2.
PRIDE	Q9H3K2.
Protocols and materials databases
DNASU	27069.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000372134; ENSP00000361207; ENSG00000165678.
GeneID	27069.
KEGG	hsa:27069.
UCSC	uc001kcs.1. human.
Organism-specific databases
CTD	27069.
GeneCards	GC10P085889.
HGNC	HGNC:17281. GHITM.
HPA	HPA016464.
neXtProt	NX_Q9H3K2.
PharmGKB	PA28673.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0670.
HOGENOM	HOG000013204.
HOVERGEN	HBG051731.
InParanoid	Q9H3K2.
OMA	PINSMLG.
OrthoDB	EOG4K0QNT.
PhylomeDB	Q9H3K2.
Gene expression databases
ArrayExpress	Q9H3K2.
Bgee	Q9H3K2.
CleanEx	HS_GHITM.
Genevestigator	Q9H3K2.
GermOnline	ENSG00000165678. Homo sapiens.
Family and domain databases
InterPro	IPR010539. Bax_inhibitor-1. IPR006214. Bax_inhibitor_1-related. [Graphical view]
PANTHER	PTHR23291. PTHR23291. 1 hit.
Pfam	PF01027. Bax1-I. 1 hit. PF12811. BaxI_1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	GHITM. human.
GenomeRNAi	27069.
NextBio	49655.

Entry information

Entry name

GHITM_HUMAN

Accession

Primary (citable) accession number: Q9H3K2
Secondary accession number(s): A8K9Z9 , D3DWE0, O95894, Q5VT95, Q9H0P2

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 14, 2001
Last sequence update:	August 14, 2001
Last modified:	April 3, 2013
This is version 103 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.