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Protein

Growth hormone-inducible transmembrane protein

Gene

GHITM

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

Keywordsi

Biological processApoptosis

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

EuPathDBiHostDB:ENSG00000165678.19
HGNCiHGNC:17281 GHITM
neXtProtiNX_Q9H3K2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini46 – 82Mitochondrial matrixSequence analysisAdd BLAST37
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

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 – 45MitochondrionSequence analysisAdd BLAST45
ChainiPRO_000017911946 – 345Growth hormone-inducible transmembrane proteinAdd BLAST300

Proteomic databases

EPDiQ9H3K2
MaxQBiQ9H3K2
PaxDbiQ9H3K2
PeptideAtlasiQ9H3K2
PRIDEiQ9H3K2
ProteomicsDBi80725
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 Mus musculus.

Protein-protein interaction databases

BioGridi117980, 58 interactors
IntActiQ9H3K2, 7 interactors
MINTiQ9H3K2
STRINGi9606.ENSP00000361207

Structurei

3D structure databases

ProteinModelPortaliQ9H3K2
SMRiQ9H3K2
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
KOiK21890
OMAiFVRMVQI
OrthoDBiEOG091G0DVQ
PhylomeDBiQ9H3K2
TreeFamiTF314017

Family and domain databases

CDDicd10431 GHITM, 1 hit
InterProiView protein in InterPro
IPR006214 Bax_inhibitor_1-related
IPR035871 GHITM
PANTHERiPTHR23291 PTHR23291, 1 hit
PfamiView protein in Pfam
PF01027 Bax1-I, 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
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
CCDSiCCDS41542.1
RefSeqiNP_055209.2, NM_014394.2
UniGeneiHs.352656

Genome annotation databases

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

Similar proteinsi

Entry informationi

Entry nameiGHITM_HUMAN
AccessioniPrimary (citable) accession number: Q9H3K2
Secondary accession number(s): A8K9Z9
, D3DWE0, O95894, Q5VT95, Q9H0P2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 14, 2001
Last sequence update: August 14, 2001
Last modified: July 18, 2018
This is version 146 of the entry and version 2 of the sequence. See 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

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