Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Mitochondrial intermediate peptidase

Gene

MIPEP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Cleaves proteins, imported into the mitochondrion, to their mature size.

Catalytic activityi

Release of an N-terminal octapeptide as second stage of processing of some proteins imported into the mitochondrion.

Cofactori

Zn2+By similarityNote: Binds 1 zinc ion.By similarity

Enzyme regulationi

Activity is divalent cation-dependent. It is stimulated by manganese, magnesium or calcium ions and reversibly inhibited by zinc, cobalt and iron (By similarity).By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi495Zinc; catalyticPROSITE-ProRule annotation1
Active sitei496PROSITE-ProRule annotation1
Metal bindingi499Zinc; catalyticPROSITE-ProRule annotation1
Metal bindingi502Zinc; catalyticPROSITE-ProRule annotation1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHydrolase, Metalloprotease, Protease
LigandCalcium, Cobalt, Iron, Magnesium, Manganese, Metal-binding, Zinc

Protein family/group databases

MEROPSiM03.006

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial intermediate peptidase (EC:3.4.24.59)
Short name:
MIP
Gene namesi
Name:MIPEP
Synonyms:MIP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000027001.9
HGNCiHGNC:7104 MIPEP
MIMi602241 gene
neXtProtiNX_Q99797

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

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Combined oxidative phosphorylation deficiency 31 (COXPD31)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, severe mitochondrial disease with multisystemic manifestations appearing soon after birth or in early infancy. Clinical features include left ventricular non-compaction, global developmental delay, severe hypotonia, seizures, cataract, and abnormal movements. Death may occur in early childhood.
See also OMIM:617228
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07800971L → Q in COXPD31. 1 PublicationCorresponds to variant dbSNP:rs1057518740Ensembl.1
Natural variantiVAR_078010306L → F in COXPD31. 1 PublicationCorresponds to variant dbSNP:rs143912947EnsemblClinVar.1
Natural variantiVAR_078011343K → E in COXPD31. 1 PublicationCorresponds to variant dbSNP:rs1057518741Ensembl.1
Natural variantiVAR_078012512H → D in COXPD31; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs779598020EnsemblClinVar.1
Natural variantiVAR_078013582L → R in COXPD31; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1057518739Ensembl.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi4285
MalaCardsiMIPEP
MIMi617228 phenotype
OpenTargetsiENSG00000027001
PharmGKBiPA30822

Polymorphism and mutation databases

BioMutaiMIPEP
DMDMi182639267

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 35MitochondrionAdd BLAST35
ChainiPRO_000002857936 – 713Mitochondrial intermediate peptidaseAdd BLAST678

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei126N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ99797
MaxQBiQ99797
PaxDbiQ99797
PeptideAtlasiQ99797
PRIDEiQ99797
ProteomicsDBi78477

PTM databases

iPTMnetiQ99797
PhosphoSitePlusiQ99797

Expressioni

Gene expression databases

BgeeiENSG00000027001
CleanExiHS_MIP
HS_MIPEP
GenevisibleiQ99797 HS

Organism-specific databases

HPAiHPA030676
HPA031669
HPA031670

Interactioni

Subunit structurei

Monomer.By similarity

Protein-protein interaction databases

BioGridi110431, 33 interactors
IntActiQ99797, 7 interactors
MINTiQ99797
STRINGi9606.ENSP00000371607

Structurei

3D structure databases

ProteinModelPortaliQ99797
SMRiQ99797
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the peptidase M3 family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG2090 Eukaryota
COG0339 LUCA
GeneTreeiENSGT00550000075047
HOGENOMiHOG000230535
HOVERGENiHBG008215
InParanoidiQ99797
KOiK01410
OMAiVENTAWQ
OrthoDBiEOG091G03FL
PhylomeDBiQ99797
TreeFamiTF105715

Family and domain databases

CDDicd06457 M3A_MIP, 1 hit
Gene3Di1.10.1370.10, 3 hits
3.40.390.10, 1 hit
InterProiView protein in InterPro
IPR033851 M3A_MIP
IPR024079 MetalloPept_cat_dom_sf
IPR024077 Neurolysin/TOP_dom2
IPR001567 Pept_M3A_M3B
PANTHERiPTHR11804:SF5 PTHR11804:SF5, 1 hit
PfamiView protein in Pfam
PF01432 Peptidase_M3, 1 hit
PROSITEiView protein in PROSITE
PS00142 ZINC_PROTEASE, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q99797-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MLCVGRLGGL GARAAALPPR RAGRGSLEAG IRARRVSTSW SPVGAAFNVK
60 70 80 90 100
PQGSRLDLFG ERRGLFGVPE LSAPEGFHIA QEKALRKTEL LVDRACSTPP
110 120 130 140 150
GPQTVLIFDE LSDSLCRVAD LADFVKIAHP EPAFREAAEE ACRSIGTMVE
160 170 180 190 200
KLNTNVDLYQ SLQKLLADKK LVDSLDPETR RVAELFMFDF EISGIHLDKE
210 220 230 240 250
KRKRAVDLNV KILDLSSTFL MGTNFPNKIE KHLLPEHIRR NFTSAGDHII
260 270 280 290 300
IDGLHAESPD DLVREAAYKI FLYPNAGQLK CLEELLSSRD LLAKLVGYST
310 320 330 340 350
FSHRALQGTI AKNPETVMQF LEKLSDKLSE RTLKDFEMIR GMKMKLNPQN
360 370 380 390 400
SEVMPWDPPY YSGVIRAERY NIEPSLYCPF FSLGACMEGL NILLNRLLGI
410 420 430 440 450
SLYAEQPAKG EVWSEDVRKL AVVHESEGLL GYIYCDFFQR ADKPHQDCHF
460 470 480 490 500
TIRGGRLKED GDYQLPVVVL MLNLPRSSRS SPTLLTPSMM ENLFHEMGHA
510 520 530 540 550
MHSMLGRTRY QHVTGTRCPT DFAEVPSILM EYFANDYRVV NQFARHYQTG
560 570 580 590 600
QPLPKNMVSR LCESKKVCAA ADMQLQVFYA TLDQIYHGKH PLRNSTTDIL
610 620 630 640 650
KETQEKFYGL PYVPNTAWQL RFSHLVGYGA RYYSYLMSRA VASMVWKECF
660 670 680 690 700
LQDPFNRAAG ERYRREMLAH GGGREPMLMV EGMLQKCPSV DDFVSALVSD
710
LDLDFETFLM DSE
Length:713
Mass (Da):80,641
Last modified:February 26, 2008 - v2
Checksum:i9DBB26B74355B9C1
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti63 – 64RG → AR in AAC51231 (PubMed:9073519).Curated2
Sequence conflicti200E → Q in AAC51231 (PubMed:9073519).Curated1
Sequence conflicti348P → A in AAC51231 (PubMed:9073519).Curated1
Sequence conflicti467V → L in AAC51231 (PubMed:9073519).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07800971L → Q in COXPD31. 1 PublicationCorresponds to variant dbSNP:rs1057518740Ensembl.1
Natural variantiVAR_038934137A → V. Corresponds to variant dbSNP:rs2312296Ensembl.1
Natural variantiVAR_078010306L → F in COXPD31. 1 PublicationCorresponds to variant dbSNP:rs143912947EnsemblClinVar.1
Natural variantiVAR_038935340R → Q. Corresponds to variant dbSNP:rs11551114Ensembl.1
Natural variantiVAR_078011343K → E in COXPD31. 1 PublicationCorresponds to variant dbSNP:rs1057518741Ensembl.1
Natural variantiVAR_038936453R → H. Corresponds to variant dbSNP:rs12858248Ensembl.1
Natural variantiVAR_038937488S → G3 PublicationsCorresponds to variant dbSNP:rs7333040Ensembl.1
Natural variantiVAR_078012512H → D in COXPD31; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs779598020EnsemblClinVar.1
Natural variantiVAR_078013582L → R in COXPD31; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1057518739Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U80034 mRNA Translation: AAC51231.1
AK291923 mRNA Translation: BAF84612.1
AL157368 Genomic DNA No translation available.
AL139080 Genomic DNA No translation available.
AL445985 Genomic DNA No translation available.
BC009934 mRNA Translation: AAH09934.1
CCDSiCCDS9303.1
RefSeqiNP_005923.2, NM_005932.3
UniGeneiHs.507498

Genome annotation databases

EnsembliENST00000382172; ENSP00000371607; ENSG00000027001
GeneIDi4285
KEGGihsa:4285
UCSCiuc001uox.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMIPEP_HUMAN
AccessioniPrimary (citable) accession number: Q99797
Secondary accession number(s): Q5JV15, Q5T9Q9, Q96G65
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: February 26, 2008
Last modified: June 20, 2018
This is version 159 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 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Peptidase families
    Classification of peptidase families and list of entries
  6. SIMILARITY comments
    Index of protein domains and families

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health