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Protein

Paraplegin

Gene

Spg7

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

ATP-dependent zinc metalloprotease. Plays a role in the formation and regulation of the mitochondrial permeability transition pore (mPTP) and its proteolytic activity is dispensable for this function (By similarity).By similarityCurated

Cofactori

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei312ATP; via amide nitrogen and carbonyl oxygenBy similarity1
Binding sitei492ATPBy similarity1
Metal bindingi574Zinc; catalyticBy similarity1
Active sitei575By similarity1
Metal bindingi578Zinc; catalyticBy similarity1
Metal bindingi650Zinc; catalyticBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi349 – 357ATPBy similarity9

GO - Molecular functioni

GO - Biological processi

  • anterograde axonal transport Source: MGI
  • cell adhesion Source: MGI
  • mitochondrial outer membrane permeabilization involved in programmed cell death Source: UniProtKB
  • mitochondrion organization Source: MGI
  • regulation of cell adhesion Source: MGI
  • regulation of mitochondrial membrane permeability Source: UniProtKB

Keywordsi

Molecular functionHydrolase, Metalloprotease, Protease
LigandATP-binding, Metal-binding, Nucleotide-binding, Zinc

Enzyme and pathway databases

BRENDAi3.4.24.B18. 3474.
ReactomeiR-MMU-8949664. Processing of SMDT1.

Protein family/group databases

MEROPSiM41.006.

Names & Taxonomyi

Protein namesi
Recommended name:
Paraplegin1 Publication (EC:3.4.24.-)
Alternative name(s):
Spastic paraplegia 7 proteinImported
Gene namesi
Name:Spg7Imported
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 8

Organism-specific databases

MGIiMGI:2385906. Spg7.

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 domaini106 – 144Mitochondrial matrixCuratedAdd BLAST39
Transmembranei145 – 165Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini166 – 248Mitochondrial intermembraneCuratedAdd BLAST83
Transmembranei249 – 269Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini270 – 781Mitochondrial matrixCuratedAdd BLAST512

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Disruption phenotypei

Mice are affected by a distal axonopathy of spinal and peripheral axons, characterized by axonal swelling and degeneration. Mitochondrial morphological abnormalities occur in synaptic terminals and in distal regions of axons long before the first signs of swelling and degeneration and correlate with onset of motor impairment during a rotarod test.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi575E → Q: Absence of proteolytic activity. No loss of its processing into the mature form. 1 Publication1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 43Mitochondrion1 PublicationAdd BLAST43
PropeptideiPRO_000044230644 – 105Removed in mature form1 PublicationAdd BLAST62
ChainiPRO_0000442307106 – 781ParapleginAdd BLAST676

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei505Nitrated tyrosineCombined sources1

Post-translational modificationi

Upon import into the mitochondrion, the N-terminal transit peptide is cleaved by the mitochondrial-processing peptidase (MPP) to generate an intermediate form which undergoes a second proteolytic cleavage mediated by proteases AFG3L1 and/or AFG3L2 removing an additional N-terminal fragment to generate the proteolytically active mature form.1 Publication

Keywords - PTMi

Nitration

Proteomic databases

EPDiQ3ULF4.
MaxQBiQ3ULF4.
PaxDbiQ3ULF4.
PeptideAtlasiB2RQY8.
PRIDEiQ3ULF4.

PTM databases

iPTMnetiQ3ULF4.
PhosphoSitePlusiQ3ULF4.

Expressioni

Tissue specificityi

Expressed in the brain and retina (at protein level).1 Publication

Gene expression databases

BgeeiENSMUSG00000000738.
CleanExiMM_SPG7.
ExpressionAtlasiQ3ULF4. baseline and differential.
GenevisibleiQ3ULF4. MM.

Interactioni

Subunit structurei

Forms heterooligomers with AFG3L1 and AFG3L2 (PubMed:22563492, PubMed:17101804, PubMed:19656850). Component of the mitochondrial permeability transition pore complex (mPTPC), at least composed of SPG7, VDAC1 and PPIF (By similarity). Interacts with AFG3L2; the interaction is required for the efficient assembly of mitochondrial complex I (PubMed:22563492, PubMed:19656850). Interacts with AFG3L1 (PubMed:19656850). Interacts with MAIP1. Interacts with VDAC1 and PPIF (By similarity).By similarity3 Publications

Protein-protein interaction databases

BioGridi231586. 1 interactor.
STRINGi10090.ENSMUSP00000104496.

Structurei

3D structure databases

ProteinModelPortaliQ3ULF4.
SMRiQ3ULF4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni701 – 781Interaction with PPIFBy similarityAdd BLAST81

Sequence similaritiesi

In the N-terminal section; belongs to the AAA ATPase family.Curated
In the C-terminal section; belongs to the peptidase M41 family.Curated

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0731. Eukaryota.
COG0465. LUCA.
GeneTreeiENSGT00890000139410.
HOGENOMiHOG000217277.
HOVERGENiHBG050184.
InParanoidiQ3ULF4.
KOiK09552.
OMAiKMEVKEF.
OrthoDBiEOG091G03B4.
TreeFamiTF105003.

Family and domain databases

HAMAPiMF_01458. FtsH. 1 hit.
InterProiView protein in InterPro
IPR003593. AAA+_ATPase.
IPR003959. ATPase_AAA_core.
IPR005936. FtsH.
IPR027417. P-loop_NTPase.
IPR011546. Pept_M41_FtsH_extracell.
IPR000642. Peptidase_M41.
IPR037219. Peptidase_M41-like.
PfamiView protein in Pfam
PF00004. AAA. 1 hit.
PF06480. FtsH_ext. 1 hit.
PF01434. Peptidase_M41. 1 hit.
SMARTiView protein in SMART
SM00382. AAA. 1 hit.
SUPFAMiSSF140990. SSF140990. 1 hit.
SSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR01241. FtsH_fam. 1 hit.

Sequencei

Sequence statusi: Complete.

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

Q3ULF4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAAALLLLRG LRPGPEPRPR RLWGLLSGRG PGLSSGAGAR RPYAARGTPV
60 70 80 90 100
GPAAAGGHAP QSLLLRILTP SFEGISGLLL KQHIVPNAVR LWPLSGSTLY
110 120 130 140 150
FNTSRMKQKN KDNDKPKGKT PEDDEEEKRR KEREDQMYRE RLRTLFIIAL
160 170 180 190 200
VMSLLNSLST SGGSISWADF VNEMLAKGEV QRVQVVPESD VVEVYLHPGA
210 220 230 240 250
VVFGRPRLAL MYRMQVANID KFEEKLRAAE DELNIESKDR IPVSYKRTGF
260 270 280 290 300
FGNALYALGM TAVGLAILWY VFRLAGMTGR EGGFSAFNQL KMARFTIVDG
310 320 330 340 350
KTGKGVSFQD VAGMHEAKLE VREFVDYLKS PERFLQLGAK VPKGALLLGP
360 370 380 390 400
PGCGKTLLAK AVATEAQVPF LAMAGPEFVE VIGGLGAARV RSLFKEARAR
410 420 430 440 450
APCIVYIDEI DAVGKKRSTS MSGFSNTEEE QTLNQLLVEM DGMGTTDHVI
460 470 480 490 500
VLASTNRADV LDNALMRPGR LDRHVFIDLP TLQERREIFE QHLKGLKLTQ
510 520 530 540 550
PSSFYSQRLA ELTPGFSGAD IANICNEAAL HAAREGHTSV HTFNFEYAVE
560 570 580 590 600
RVIAGTAKKS KILSKEEQRV VAFHESGHAL VGWLLEHTEA VMKVSIAPRT
610 620 630 640 650
NAALGFSQML PRDQYLFTKE QLFERMCMAL GGRAAEAISF SRVTSGAQDD
660 670 680 690 700
LRKVTRIAYS MVKQFGMAPS IGPVSFPEAQ EGLMGIGRRP FSQGLQQMMD
710 720 730 740 750
HEAKLLVAKA YRHTEKVLLD NLDKLQALAN ALLEKEVINY EDIEALIGPP
760 770 780
PHGPKKMIAP QKWIDAEKER QASGEEEAPA P
Length:781
Mass (Da):85,996
Last modified:October 11, 2005 - v1
Checksum:i35CCFB8F24B249D8
GO

Sequence cautioni

The sequence AAH55488 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAH96690 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti165I → T in AAO21098 (Ref. 2) Curated1
Sequence conflicti168A → S in AAI38142 (PubMed:19468303).Curated1
Sequence conflicti310D → G in AAO21098 (Ref. 2) Curated1
Sequence conflicti471L → F in AAN03852 (PubMed:14722615).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF512565 mRNA. Translation: AAN03852.1.
AF547215 mRNA. Translation: AAO21098.1.
AK145540 mRNA. Translation: BAE26494.1.
AC121819 Genomic DNA. No translation available.
BC024466 mRNA. Translation: AAH24466.1.
BC024986 mRNA. Translation: AAH24986.1.
BC051051 mRNA. Translation: AAH51051.1.
BC096690 mRNA. Translation: AAH96690.1. Different initiation.
BC055488 mRNA. Translation: AAH55488.1. Different initiation.
BC138141 mRNA. Translation: AAI38142.1.
CCDSiCCDS40508.1.
RefSeqiNP_694816.3. NM_153176.4.
UniGeneiMm.292075.

Genome annotation databases

EnsembliENSMUST00000149248; ENSMUSP00000119552; ENSMUSG00000000738.
GeneIDi234847.
KEGGimmu:234847.
UCSCiuc009nuc.1. mouse.

Similar proteinsi

Entry informationi

Entry nameiSPG7_MOUSE
AccessioniPrimary (citable) accession number: Q3ULF4
Secondary accession number(s): B2RQY8
, D3Z1Z1, Q4V9T9, Q7TNG0, Q80X42, Q811Y5, Q8K414, Q8R1A1, Q8R1K2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: October 11, 2005
Last modified: December 20, 2017
This is version 115 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Caution

According to PubMed:22563492, alternative splicing gives rise to an isoform (Paraplegin-2) which is identical to the sequence of the mature protein and localizes to the endoplasmic reticulum.1 Publication

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. Peptidase families
    Classification of peptidase families and list of entries
  3. SIMILARITY comments
    Index of protein domains and families