UniProtKB - Q9H3K2 (GHITM_HUMAN)
Protein
Growth hormone-inducible transmembrane protein
Gene
GHITM
Organism
Homo sapiens (Human)
Status
Functioni
Required for the mitochondrial tubular network and cristae organization. Involved in apoptotic release of cytochrome c.1 Publication
GO - Biological processi
- apoptotic process Source: UniProtKB-KW
- inner mitochondrial membrane organization Source: FlyBase
- negative regulation of release of cytochrome c from mitochondria Source: FlyBase
- positive regulation of mitochondrial ATP synthesis coupled electron transport Source: FlyBase
Keywordsi
Biological process | Apoptosis |
Enzyme and pathway databases
PathwayCommonsi | Q9H3K2 |
SIGNORi | Q9H3K2 |
Names & Taxonomyi
Protein namesi | Recommended name: Growth hormone-inducible transmembrane proteinAlternative 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:17281, GHITM |
neXtProti | NX_Q9H3K2 |
VEuPathDBi | HostDB:ENSG00000165678.19 |
Subcellular locationi
Mitochondrion
- Mitochondrion inner membrane 1 Publication; Multi-pass membrane protein 1 Publication
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Mitochondrion
- integral component of mitochondrial inner membrane Source: FlyBase
- mitochondrion Source: HPA
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 46 – 82 | Mitochondrial matrixSequence analysisAdd BLAST | 37 | |
Transmembranei | 83 – 103 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 104 – 125 | Mitochondrial intermembraneSequence analysisAdd BLAST | 22 | |
Transmembranei | 126 – 146 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 147 – 159 | Mitochondrial matrixSequence analysisAdd BLAST | 13 | |
Transmembranei | 160 – 180 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 181 – 190 | Mitochondrial intermembraneSequence analysis | 10 | |
Transmembranei | 191 – 211 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 212 – 213 | Mitochondrial matrixSequence analysis | 2 | |
Transmembranei | 214 – 234 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 235 – 244 | Mitochondrial intermembraneSequence analysis | 10 | |
Transmembranei | 245 – 265 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 266 – 271 | Mitochondrial matrixSequence analysis | 6 | |
Transmembranei | 272 – 292 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 293 – 345 | Mitochondrial intermembraneSequence analysisAdd BLAST | 53 |
Keywords - Cellular componenti
Membrane, Mitochondrion, Mitochondrion inner membranePathology & Biotechi
Organism-specific databases
OpenTargetsi | ENSG00000165678 |
PharmGKBi | PA28673 |
Miscellaneous databases
Pharosi | Q9H3K2, Tbio |
Genetic variation databases
BioMutai | GHITM |
DMDMi | 15213977 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 45 | MitochondrionSequence analysisAdd BLAST | 45 | |
ChainiPRO_0000179119 | 46 – 345 | Growth hormone-inducible transmembrane proteinAdd BLAST | 300 |
Proteomic databases
EPDi | Q9H3K2 |
jPOSTi | Q9H3K2 |
MassIVEi | Q9H3K2 |
MaxQBi | Q9H3K2 |
PaxDbi | Q9H3K2 |
PeptideAtlasi | Q9H3K2 |
PRIDEi | Q9H3K2 |
ProteomicsDBi | 80725 |
TopDownProteomicsi | Q9H3K2 |
PTM databases
iPTMneti | Q9H3K2 |
MetOSitei | Q9H3K2 |
PhosphoSitePlusi | Q9H3K2 |
SwissPalmi | Q9H3K2 |
Expressioni
Gene expression databases
Bgeei | ENSG00000165678, Expressed in sperm and 249 other tissues |
Genevisiblei | Q9H3K2, HS |
Organism-specific databases
HPAi | ENSG00000165678, Low tissue specificity |
Interactioni
Binary interactionsi
Hide detailsQ9H3K2
Protein-protein interaction databases
BioGRIDi | 117980, 73 interactors |
IntActi | Q9H3K2, 61 interactors |
MINTi | Q9H3K2 |
STRINGi | 9606.ENSP00000361207 |
Miscellaneous databases
RNActi | Q9H3K2, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the BI1 family.Curated
Keywords - Domaini
Transit peptide, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG1630, Eukaryota |
GeneTreei | ENSGT01010000222482 |
HOGENOMi | CLU_050797_1_0_1 |
InParanoidi | Q9H3K2 |
OMAi | DMINIFI |
OrthoDBi | 1228054at2759 |
PhylomeDBi | Q9H3K2 |
TreeFami | TF314017 |
Family and domain databases
CDDi | cd10431, GHITM, 1 hit |
InterProi | View protein in InterPro IPR006214, Bax_inhibitor_1-related IPR035871, GHITM |
PANTHERi | PTHR23291, PTHR23291, 1 hit |
Pfami | View protein in Pfam PF01027, Bax1-I, 1 hit |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
Q9H3K2-1 [UniParc]FASTAAdd to basket
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
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 4 | A → V in CAB66648 (PubMed:11230166).Curated | 1 | |
Sequence conflicti | 64 | E → G in AAG43135 (Ref. 3) Curated | 1 | |
Sequence conflicti | 74 | I → M in CAB66648 (PubMed:11230166).Curated | 1 | |
Sequence conflicti | 118 | Q → R in CAB66648 (PubMed:11230166).Curated | 1 |
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 AC022389 Genomic DNA No translation available. AL603756 Genomic DNA No translation available. 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 |
Genome annotation databases
Ensembli | ENST00000372134; ENSP00000361207; ENSG00000165678 |
GeneIDi | 27069 |
KEGGi | hsa:27069 |
UCSCi | uc001kcs.2, human |
Similar proteinsi
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 AC022389 Genomic DNA No translation available. AL603756 Genomic DNA No translation available. 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 |
3D structure databases
SMRi | Q9H3K2 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 117980, 73 interactors |
IntActi | Q9H3K2, 61 interactors |
MINTi | Q9H3K2 |
STRINGi | 9606.ENSP00000361207 |
PTM databases
iPTMneti | Q9H3K2 |
MetOSitei | Q9H3K2 |
PhosphoSitePlusi | Q9H3K2 |
SwissPalmi | Q9H3K2 |
Genetic variation databases
BioMutai | GHITM |
DMDMi | 15213977 |
Proteomic databases
EPDi | Q9H3K2 |
jPOSTi | Q9H3K2 |
MassIVEi | Q9H3K2 |
MaxQBi | Q9H3K2 |
PaxDbi | Q9H3K2 |
PeptideAtlasi | Q9H3K2 |
PRIDEi | Q9H3K2 |
ProteomicsDBi | 80725 |
TopDownProteomicsi | Q9H3K2 |
Protocols and materials databases
Antibodypediai | 8062, 226 antibodies |
DNASUi | 27069 |
Genome annotation databases
Ensembli | ENST00000372134; ENSP00000361207; ENSG00000165678 |
GeneIDi | 27069 |
KEGGi | hsa:27069 |
UCSCi | uc001kcs.2, human |
Organism-specific databases
CTDi | 27069 |
GeneCardsi | GHITM |
HGNCi | HGNC:17281, GHITM |
HPAi | ENSG00000165678, Low tissue specificity |
neXtProti | NX_Q9H3K2 |
OpenTargetsi | ENSG00000165678 |
PharmGKBi | PA28673 |
VEuPathDBi | HostDB:ENSG00000165678.19 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1630, Eukaryota |
GeneTreei | ENSGT01010000222482 |
HOGENOMi | CLU_050797_1_0_1 |
InParanoidi | Q9H3K2 |
OMAi | DMINIFI |
OrthoDBi | 1228054at2759 |
PhylomeDBi | Q9H3K2 |
TreeFami | TF314017 |
Enzyme and pathway databases
PathwayCommonsi | Q9H3K2 |
SIGNORi | Q9H3K2 |
Miscellaneous databases
BioGRID-ORCSi | 27069, 5 hits in 875 CRISPR screens |
ChiTaRSi | GHITM, human |
GeneWikii | GHITM |
GenomeRNAii | 27069 |
Pharosi | Q9H3K2, Tbio |
PROi | PR:Q9H3K2 |
RNActi | Q9H3K2, protein |
Gene expression databases
Bgeei | ENSG00000165678, Expressed in sperm and 249 other tissues |
Genevisiblei | Q9H3K2, HS |
Family and domain databases
CDDi | cd10431, GHITM, 1 hit |
InterProi | View protein in InterPro IPR006214, Bax_inhibitor_1-related IPR035871, GHITM |
PANTHERi | PTHR23291, PTHR23291, 1 hit |
Pfami | View protein in Pfam PF01027, Bax1-I, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | GHITM_HUMAN | |
Accessioni | Q9H3K2Primary (citable) accession number: Q9H3K2 Secondary accession number(s): A8K9Z9 Q9H0P2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 14, 2001 |
Last sequence update: | August 14, 2001 | |
Last modified: | February 10, 2021 | |
This is version 163 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - SIMILARITY comments
Index of protein domains and families