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

AFG3-like protein 2

Gene

Afg3l2

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

Functioni

ATP-dependent protease which is essential for axonal and neuron development (PubMed:18337413, PubMed:27642048). In neurons, mediates degradation of SMDT1/EMRE before its assembly with the uniporter complex, limiting the availability of SMDT1/EMRE for MCU assembly and promoting efficient assembly of gatekeeper subunits with MCU (By similarity). Required for the maturation of paraplegin (SPG7) after its cleavage by mitochondrial-processing peptidase (MPP), converting it into a proteolytically active mature form.By similarity2 Publications

Cofactori

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi573Zinc; catalyticBy similarity1
Active sitei574By similarity1
Metal bindingi577Zinc; catalyticBy similarity1
Metal bindingi648Zinc; catalyticBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi347 – 354ATPSequence analysis8

GO - Molecular functioni

GO - Biological processi

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

MEROPSiM41.007

Names & Taxonomyi

Protein namesi
Recommended name:
AFG3-like protein 2 (EC:3.4.24.-By similarity)
Gene namesi
Name:Afg3l2
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 18

Organism-specific databases

MGIiMGI:1916847 Afg3l2

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
Transmembranei142 – 162HelicalSequence analysisAdd BLAST21
Transmembranei250 – 270HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Defects in Afg3l2 are the cause of the paralyze (par) phenotype, a spontaneous mutant strain. Par mice have a normal appearance and fertility but are significantly smaller than their littermates at 1 week of age and display a rapidly progressive loss of motor function in all limbs by 12-14 days. As the disease progresses, they lose the ability to support their own weight or turn themselves over when placed on their back and exhibit a typical posture with over extension of all limbs and uncoordinated movements. They rarely survive beyond 16 days of age, when they are completely paralyzed.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi574E → Q: Absence of proteolytic activity. Loss of its processing into the mature form. 1 Publication1

Keywords - Diseasei

Disease mutation

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 38Mitochondrion1 PublicationAdd BLAST38
PropeptideiPRO_000044231339 – 66Removed in mature form1 PublicationAdd BLAST28
ChainiPRO_000044231467 – 802AFG3-like protein 2Add BLAST736

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei116N6-succinyllysineCombined sources1

Post-translational modificationi

Upon import into the mitochondrion, the N-terminal transit peptide is cleaved to generate an intermediate form which undergoes autocatalytic proteolytic processing to generate the proteolytically active mature form.1 Publication

Proteomic databases

EPDiQ8JZQ2
MaxQBiQ8JZQ2
PaxDbiQ8JZQ2
PeptideAtlasiQ8JZQ2
PRIDEiQ8JZQ2

PTM databases

iPTMnetiQ8JZQ2
PhosphoSitePlusiQ8JZQ2
SwissPalmiQ8JZQ2

Expressioni

Tissue specificityi

Highly expressed in the cerebellar Purkinje cells.1 Publication

Gene expression databases

BgeeiENSMUSG00000024527 Expressed in 271 organ(s), highest expression level in cardiac ventricle
CleanExiMM_AFG3L2
GenevisibleiQ8JZQ2 MM

Interactioni

Subunit structurei

Homooligomer (PubMed:17101804). Forms heterooligomers with SPG7 and AFG3L1 (PubMed:17101804, PubMed:19656850). Interacts with SPG7; the interaction is required for the efficient assembly of mitochondrial complex I (PubMed:22563492, PubMed:19656850). Interacts with AFG3L1 (PubMed:19656850). Interacts with MAIP1 (PubMed:27642048).By similarity4 Publications

Protein-protein interaction databases

BioGridi213561, 1 interactor
IntActiQ8JZQ2, 4 interactors
MINTiQ8JZQ2
STRINGi10090.ENSMUSP00000025408

Structurei

3D structure databases

ProteinModelPortaliQ8JZQ2
SMRiQ8JZQ2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

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
InParanoidiQ8JZQ2
KOiK08956
OMAiEFRANFF
OrthoDBiEOG091G03EQ
PhylomeDBiQ8JZQ2
TreeFamiTF105004

Family and domain databases

HAMAPiMF_01458 FtsH, 1 hit
InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR003959 ATPase_AAA_core
IPR003960 ATPase_AAA_CS
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
PROSITEiView protein in PROSITE
PS00674 AAA, 1 hit

Sequencei

Sequence statusi: Complete.

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

Q8JZQ2-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAHRCLLLWS RGGCRRGLPP LLVPRGCLGP DRRPCLRTLY QYATVQTASS
60 70 80 90 100
RRSLLRDVIA AYQRFCSRPP KGFEKYFPNG KNGKKASEPK EAVGEKKEPQ
110 120 130 140 150
PSGPQPSGGA GGGGGKRRGK KEDSHWWSRF QKGDFPWDDK DFRMYFLWTA
160 170 180 190 200
LFWGGVMIYF VFKSSGREIT WKDFVNNYLS KGVVDRLEVV NKRFVRVTFT
210 220 230 240 250
PGKTPVDGQY VWFNIGSVDT FERNLETLQQ ELGIEGENRV PVVYIAESDG
260 270 280 290 300
SFLLSMLPTV LIIAFLLYTI RRGPAGIGRT GRGMGGLFSV GETTAKVLKD
310 320 330 340 350
EIDVKFKDVA GCEEAKLEIM EFVNFLKNPK QYQDLGAKIP KGAILTGPPG
360 370 380 390 400
TGKTLLAKAT AGEANVPFIT VSGSEFLEMF VGVGPARVRD LFALARKNAP
410 420 430 440 450
CILFIDEIDA VGRKRGRGNF GGQSEQENTL NQLLVEMDGF NTTTNVVILA
460 470 480 490 500
GTNRPDILDP ALLRPGRFDR QIFIGPPDIK GRASIFKVHL RPLKLDSALE
510 520 530 540 550
KDKLARKLAS LTPGFSGADV ANVCNEAALI AARHLSDAIN EKHFEQAIER
560 570 580 590 600
VIGGLEKKTQ VLQPEEKKTV AYHEAGHAVA GWYLEHADPL LKVSIIPRGK
610 620 630 640 650
GLGYAQYLPK EQYLYTKEQL LDRMCMTLGG RVSEEIFFGR ITTGAQDDLR
660 670 680 690 700
KVTQSAYAQI VQFGMNEKVG QISFDLPRQG DMVLEKPYSE ATARMIDDEV
710 720 730 740 750
RILISDAYRR TVALLTEKKA DVEKVALLLL EKEVLDKNDM VQLLGPRPFT
760 770 780 790 800
EKSTYEEFVE GTGSLDEDTS LPEGLQDWNK EREKEEKKEK EKEEPLNEKV

VS
Length:802
Mass (Da):89,519
Last modified:October 1, 2002 - v1
Checksum:iE7300BD686532D2D
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural varianti389R → G in par. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC036999 mRNA Translation: AAH36999.1
BC043056 mRNA Translation: AAH43056.1
CCDSiCCDS37847.1
RefSeqiNP_081406.1, NM_027130.1
UniGeneiMm.426052

Genome annotation databases

EnsembliENSMUST00000025408; ENSMUSP00000025408; ENSMUSG00000024527
GeneIDi69597
KEGGimmu:69597
UCSCiuc008fmf.1 mouse

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC036999 mRNA Translation: AAH36999.1
BC043056 mRNA Translation: AAH43056.1
CCDSiCCDS37847.1
RefSeqiNP_081406.1, NM_027130.1
UniGeneiMm.426052

3D structure databases

ProteinModelPortaliQ8JZQ2
SMRiQ8JZQ2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi213561, 1 interactor
IntActiQ8JZQ2, 4 interactors
MINTiQ8JZQ2
STRINGi10090.ENSMUSP00000025408

Protein family/group databases

MEROPSiM41.007

PTM databases

iPTMnetiQ8JZQ2
PhosphoSitePlusiQ8JZQ2
SwissPalmiQ8JZQ2

Proteomic databases

EPDiQ8JZQ2
MaxQBiQ8JZQ2
PaxDbiQ8JZQ2
PeptideAtlasiQ8JZQ2
PRIDEiQ8JZQ2

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000025408; ENSMUSP00000025408; ENSMUSG00000024527
GeneIDi69597
KEGGimmu:69597
UCSCiuc008fmf.1 mouse

Organism-specific databases

CTDi10939
MGIiMGI:1916847 Afg3l2

Phylogenomic databases

eggNOGiKOG0731 Eukaryota
COG0465 LUCA
GeneTreeiENSGT00890000139410
HOGENOMiHOG000217277
HOVERGENiHBG050184
InParanoidiQ8JZQ2
KOiK08956
OMAiEFRANFF
OrthoDBiEOG091G03EQ
PhylomeDBiQ8JZQ2
TreeFamiTF105004

Enzyme and pathway databases

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

Miscellaneous databases

PROiPR:Q8JZQ2
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000024527 Expressed in 271 organ(s), highest expression level in cardiac ventricle
CleanExiMM_AFG3L2
GenevisibleiQ8JZQ2 MM

Family and domain databases

HAMAPiMF_01458 FtsH, 1 hit
InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR003959 ATPase_AAA_core
IPR003960 ATPase_AAA_CS
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
PROSITEiView protein in PROSITE
PS00674 AAA, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiAFG32_MOUSE
AccessioniPrimary (citable) accession number: Q8JZQ2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 13, 2005
Last sequence update: October 1, 2002
Last modified: November 7, 2018
This is version 136 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Peptidase families
    Classification of peptidase families and list of entries
  3. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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