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Protein

Mitochondrial intermediate peptidase

Gene

MIPEP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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.

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 Publication1
Natural variantiVAR_078010306L → F in COXPD31. 1 PublicationCorresponds to variant dbSNP:rs143912947Ensembl.1
Natural variantiVAR_078011343K → E in COXPD31. 1 Publication1
Natural variantiVAR_078012512H → D in COXPD31; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs779598020Ensembl.1
Natural variantiVAR_078013582L → R in COXPD31; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi4285.
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.

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.
MINTiMINT-2815808.
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.
Gene3Di1.20.1050.40. 1 hit.
InterProiView protein in InterPro
IPR033851. M3A_MIP.
IPR024080. Neurolysin/TOP_N.
IPR001567. Pept_M3A_M3B.
PANTHERiPTHR11804:SF57. PTHR11804:SF57. 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 Publication1
Natural variantiVAR_038934137A → V. Corresponds to variant dbSNP:rs2312296Ensembl.1
Natural variantiVAR_078010306L → F in COXPD31. 1 PublicationCorresponds to variant dbSNP:rs143912947Ensembl.1
Natural variantiVAR_038935340R → Q. Corresponds to variant dbSNP:rs11551114Ensembl.1
Natural variantiVAR_078011343K → E in COXPD31. 1 Publication1
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:rs779598020Ensembl.1
Natural variantiVAR_078013582L → R in COXPD31; unknown pathological significance. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U80034 mRNA. Translation: AAC51231.1.
AK291923 mRNA. Translation: BAF84612.1.
AL157368, AL139080, AL445985 Genomic DNA. Translation: CAI15091.1.
AL139080, AL157368, AL445985 Genomic DNA. Translation: CAI39630.1.
AL445985, AL139080, AL157368 Genomic DNA. Translation: CAM20040.1.
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: September 27, 2017
This is version 153 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