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Protein

AFG3-like protein 2

Gene

Afg3l2

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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).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

  • axonogenesis Source: UniProtKB
  • calcium ion transmembrane import into mitochondrion Source: UniProtKB
  • cristae formation Source: MGI
  • mitochondrial calcium ion homeostasis Source: UniProtKB
  • mitochondrial fusion Source: MGI
  • mitochondrial protein processing Source: MGI
  • mitochondrion organization Source: MGI
  • muscle fiber development Source: MGI
  • myelination Source: MGI
  • nerve development Source: MGI
  • neuromuscular junction development Source: MGI
  • protein complex assembly Source: GO_Central
  • protein import into mitochondrial intermembrane space Source: GO_Central
  • proteolysis Source: MGI
  • regulation of multicellular organism growth Source: MGI
  • righting reflex Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Metalloprotease, Protease

Keywords - Ligandi

ATP-binding, Metal-binding, Nucleotide-binding, Zinc

Enzyme and pathway databases

BRENDAi3.4.24.B18. 3474.

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 18

Organism-specific databases

MGIiMGI:1916847. Afg3l2.

Subcellular locationi

  • Mitochondrion membrane By similarity; Multi-pass membrane protein By similarity

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei142 – 162HelicalSequence analysisAdd BLAST21
Transmembranei250 – 270HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • m-AAA complex Source: MGI
  • mitochondrial inner membrane Source: MGI
  • mitochondrion Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion

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.

Keywords - Diseasei

Disease mutation

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000846741 – 802AFG3-like protein 2Add BLAST802

Amino acid modifications

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

Proteomic databases

EPDiQ8JZQ2.
MaxQBiQ8JZQ2.
PaxDbiQ8JZQ2.
PeptideAtlasiQ8JZQ2.
PRIDEiQ8JZQ2.

PTM databases

iPTMnetiQ8JZQ2.
PhosphoSitePlusiQ8JZQ2.

Expressioni

Tissue specificityi

Highly expressed in the cerebellar Purkinje cells.1 Publication

Gene expression databases

BgeeiENSMUSG00000024527.
CleanExiMM_AFG3L2.
GenevisibleiQ8JZQ2. MM.

Interactioni

Subunit structurei

Homooligomer. Interacts with SPG7; the interaction is required for the efficient assembly of mitochondrial complex I. Interacts with MAIP1 (PubMed:27642048).By similarity1 Publication

Protein-protein interaction databases

IntActiQ8JZQ2. 3 interactors.
MINTiMINT-4116623.
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

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0731. Eukaryota.
COG0465. LUCA.
GeneTreeiENSGT00860000133808.
HOGENOMiHOG000217277.
HOVERGENiHBG050184.
InParanoidiQ8JZQ2.
KOiK08956.
OMAiCLRLWGR.
OrthoDBiEOG091G03EQ.
PhylomeDBiQ8JZQ2.
TreeFamiTF105004.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
HAMAPiMF_01458. FtsH. 1 hit.
InterProiIPR003593. AAA+_ATPase.
IPR003959. ATPase_AAA_core.
IPR003960. ATPase_AAA_CS.
IPR005936. FtsH.
IPR027417. P-loop_NTPase.
IPR011546. Pept_M41_FtsH_extracell.
IPR000642. Peptidase_M41.
[Graphical view]
PfamiPF00004. AAA. 1 hit.
PF06480. FtsH_ext. 1 hit.
PF01434. Peptidase_M41. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR01241. FtsH_fam. 1 hit.
PROSITEiPS00674. AAA. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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.

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

IntActiQ8JZQ2. 3 interactors.
MINTiMINT-4116623.
STRINGi10090.ENSMUSP00000025408.

Protein family/group databases

MEROPSiM41.007.

PTM databases

iPTMnetiQ8JZQ2.
PhosphoSitePlusiQ8JZQ2.

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.
GeneTreeiENSGT00860000133808.
HOGENOMiHOG000217277.
HOVERGENiHBG050184.
InParanoidiQ8JZQ2.
KOiK08956.
OMAiCLRLWGR.
OrthoDBiEOG091G03EQ.
PhylomeDBiQ8JZQ2.
TreeFamiTF105004.

Enzyme and pathway databases

BRENDAi3.4.24.B18. 3474.

Miscellaneous databases

PROiQ8JZQ2.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000024527.
CleanExiMM_AFG3L2.
GenevisibleiQ8JZQ2. MM.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
HAMAPiMF_01458. FtsH. 1 hit.
InterProiIPR003593. AAA+_ATPase.
IPR003959. ATPase_AAA_core.
IPR003960. ATPase_AAA_CS.
IPR005936. FtsH.
IPR027417. P-loop_NTPase.
IPR011546. Pept_M41_FtsH_extracell.
IPR000642. Peptidase_M41.
[Graphical view]
PfamiPF00004. AAA. 1 hit.
PF06480. FtsH_ext. 1 hit.
PF01434. Peptidase_M41. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR01241. FtsH_fam. 1 hit.
PROSITEiPS00674. AAA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAFG32_MOUSE
AccessioniPrimary (citable) accession number: Q8JZQ2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 13, 2005
Last sequence update: October 1, 2002
Last modified: November 30, 2016
This is version 122 of the entry and version 1 of the sequence. [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. 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.