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Protein

Growth hormone-inducible transmembrane protein

Gene

GHITM

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

Complete GO annotation...

Keywords - Biological processi

Apoptosis

Enzyme and pathway databases

BioCyciZFISH:ENSG00000165678-MONOMER.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:17281. GHITM.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini45 – 82Mitochondrial matrixSequence analysisAdd BLAST38
Transmembranei83 – 103HelicalSequence analysisAdd BLAST21
Topological domaini104 – 125Mitochondrial intermembraneSequence analysisAdd BLAST22
Transmembranei126 – 146HelicalSequence analysisAdd BLAST21
Topological domaini147 – 159Mitochondrial matrixSequence analysisAdd BLAST13
Transmembranei160 – 180HelicalSequence analysisAdd BLAST21
Topological domaini181 – 190Mitochondrial intermembraneSequence analysis10
Transmembranei191 – 211HelicalSequence analysisAdd BLAST21
Topological domaini212 – 213Mitochondrial matrixSequence analysis2
Transmembranei214 – 234HelicalSequence analysisAdd BLAST21
Topological domaini235 – 244Mitochondrial intermembraneSequence analysis10
Transmembranei245 – 265HelicalSequence analysisAdd BLAST21
Topological domaini266 – 271Mitochondrial matrixSequence analysis6
Transmembranei272 – 292HelicalSequence analysisAdd BLAST21
Topological domaini293 – 345Mitochondrial intermembraneSequence analysisAdd BLAST53

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi27069.
OpenTargetsiENSG00000165678.
PharmGKBiPA28673.

Polymorphism and mutation databases

BioMutaiGHITM.
DMDMi15213977.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 44Mitochondrion1 PublicationAdd BLAST44
ChainiPRO_000017911945 – 345Growth hormone-inducible transmembrane proteinAdd BLAST301

Proteomic databases

EPDiQ9H3K2.
MaxQBiQ9H3K2.
PaxDbiQ9H3K2.
PeptideAtlasiQ9H3K2.
PRIDEiQ9H3K2.
TopDownProteomicsiQ9H3K2.

PTM databases

iPTMnetiQ9H3K2.
PhosphoSitePlusiQ9H3K2.
SwissPalmiQ9H3K2.

Expressioni

Gene expression databases

BgeeiENSG00000165678.
CleanExiHS_GHITM.
GenevisibleiQ9H3K2. HS.

Organism-specific databases

HPAiHPA016464.
HPA061664.

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

BioGridi117980. 50 interactors.
IntActiQ9H3K2. 4 interactors.
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

eggNOGiKOG1630. Eukaryota.
ENOG410XPHY. LUCA.
GeneTreeiENSGT00390000008960.
HOGENOMiHOG000013204.
HOVERGENiHBG051731.
InParanoidiQ9H3K2.
OMAiPAYGVQK.
OrthoDBiEOG091G0DVQ.
PhylomeDBiQ9H3K2.
TreeFamiTF314017.

Family and domain databases

InterProiIPR006214. Bax_inhibitor_1-related.
[Graphical view]
PANTHERiPTHR23291. PTHR23291. 1 hit.

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)DescriptionActionsGraphical viewLength
Sequence conflicti4A → V in CAB66648 (PubMed:11230166).Curated1
Sequence conflicti64E → G in AAG43135 (Ref. 3) Curated1
Sequence conflicti74I → M in CAB66648 (PubMed:11230166).Curated1
Sequence conflicti118Q → R in CAB66648 (PubMed:11230166).Curated1

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.2. human.

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.
CCDSiCCDS41542.1.
RefSeqiNP_055209.2. NM_014394.2.
UniGeneiHs.352656.

3D structure databases

ProteinModelPortaliQ9H3K2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117980. 50 interactors.
IntActiQ9H3K2. 4 interactors.
MINTiMINT-3067251.
STRINGi9606.ENSP00000361207.

PTM databases

iPTMnetiQ9H3K2.
PhosphoSitePlusiQ9H3K2.
SwissPalmiQ9H3K2.

Polymorphism and mutation databases

BioMutaiGHITM.
DMDMi15213977.

Proteomic databases

EPDiQ9H3K2.
MaxQBiQ9H3K2.
PaxDbiQ9H3K2.
PeptideAtlasiQ9H3K2.
PRIDEiQ9H3K2.
TopDownProteomicsiQ9H3K2.

Protocols and materials databases

DNASUi27069.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000372134; ENSP00000361207; ENSG00000165678.
GeneIDi27069.
KEGGihsa:27069.
UCSCiuc001kcs.2. human.

Organism-specific databases

CTDi27069.
DisGeNETi27069.
GeneCardsiGHITM.
HGNCiHGNC:17281. GHITM.
HPAiHPA016464.
HPA061664.
neXtProtiNX_Q9H3K2.
OpenTargetsiENSG00000165678.
PharmGKBiPA28673.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1630. Eukaryota.
ENOG410XPHY. LUCA.
GeneTreeiENSGT00390000008960.
HOGENOMiHOG000013204.
HOVERGENiHBG051731.
InParanoidiQ9H3K2.
OMAiPAYGVQK.
OrthoDBiEOG091G0DVQ.
PhylomeDBiQ9H3K2.
TreeFamiTF314017.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000165678-MONOMER.

Miscellaneous databases

ChiTaRSiGHITM. human.
GeneWikiiGHITM.
GenomeRNAii27069.
PROiQ9H3K2.

Gene expression databases

BgeeiENSG00000165678.
CleanExiHS_GHITM.
GenevisibleiQ9H3K2. HS.

Family and domain databases

InterProiIPR006214. Bax_inhibitor_1-related.
[Graphical view]
PANTHERiPTHR23291. PTHR23291. 1 hit.
ProtoNetiSearch...

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: November 30, 2016
This is version 136 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.