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Q8JZQ2 (AFG32_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 103. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
AFG3-like protein 2

EC=3.4.24.-
Gene names
Name:Afg3l2
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length802 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

ATP-dependent protease which is essential for axonal development. Ref.3

Cofactor

Binds 1 zinc ion per subunit Potential.

Subunit structure

Homooligomer. Interacts with SPG7; the interaction is required for the efficient assembly of mitochondrial complex I By similarity.

Subcellular location

Mitochondrion membrane; Multi-pass membrane protein By similarity HAMAP-Rule MF_01458.

Tissue specificity

Highly expressed in the cerebellar Purkinje cells. Ref.4

Involvement in disease

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.

Sequence similarities

In the N-terminal section; belongs to the AAA ATPase family.

In the C-terminal section; belongs to the peptidase M41 family.

Ontologies

Keywords
   Cellular componentMembrane
Mitochondrion
   DiseaseDisease mutation
   DomainTransmembrane
Transmembrane helix
   LigandATP-binding
Metal-binding
Nucleotide-binding
Zinc
   Molecular functionHydrolase
Metalloprotease
Protease
   Technical termComplete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processaxonogenesis

Inferred from mutant phenotype PubMed 2917690. Source: MGI

cristae formation

Inferred from genetic interaction PubMed 20038678. Source: MGI

death

Inferred from mutant phenotype PubMed 2917690. Source: MGI

mitochondrial fusion

Inferred from genetic interaction PubMed 20038678. Source: MGI

mitochondrial protein processing

Inferred from genetic interaction PubMed 20038678. Source: MGI

mitochondrion organization

Inferred from genetic interaction PubMed 20038678. Source: MGI

muscle fiber development

Inferred from mutant phenotype PubMed 2917690. Source: MGI

myelination

Inferred from mutant phenotype PubMed 2917690. Source: MGI

nerve development

Inferred from mutant phenotype PubMed 2917690. Source: MGI

neuromuscular junction development

Inferred from mutant phenotype PubMed 2917690. Source: MGI

regulation of multicellular organism growth

Inferred from mutant phenotype PubMed 2917690. Source: MGI

righting reflex

Inferred from mutant phenotype PubMed 2917690. Source: MGI

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

mitochondrial inner membrane

Inferred from direct assay PubMed 12865426. Source: MGI

mitochondrion

Inferred from direct assay PubMed 18614015. Source: MGI

   Molecular_functionATP binding

Inferred from electronic annotation. Source: UniProtKB-KW

metalloendopeptidase activity

Inferred from electronic annotation. Source: InterPro

nucleoside-triphosphatase activity

Inferred from electronic annotation. Source: InterPro

zinc ion binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 802802AFG3-like protein 2 HAMAP-Rule MF_01458
PRO_0000084674

Regions

Transmembrane142 – 16221Helical; Potential
Transmembrane250 – 27021Helical; Potential
Nucleotide binding347 – 3548ATP Potential

Sites

Active site5741 By similarity
Metal binding5731Zinc; catalytic By similarity
Metal binding5771Zinc; catalytic By similarity
Metal binding6481Zinc; catalytic By similarity

Amino acid modifications

Modified residue1161N6-succinyllysine Ref.5

Natural variations

Natural variant3891R → G in par. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Q8JZQ2 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: E7300BD686532D2D

FASTA80289,519
        10         20         30         40         50         60 
MAHRCLLLWS RGGCRRGLPP LLVPRGCLGP DRRPCLRTLY QYATVQTASS RRSLLRDVIA 

        70         80         90        100        110        120 
AYQRFCSRPP KGFEKYFPNG KNGKKASEPK EAVGEKKEPQ PSGPQPSGGA GGGGGKRRGK 

       130        140        150        160        170        180 
KEDSHWWSRF QKGDFPWDDK DFRMYFLWTA LFWGGVMIYF VFKSSGREIT WKDFVNNYLS 

       190        200        210        220        230        240 
KGVVDRLEVV NKRFVRVTFT PGKTPVDGQY VWFNIGSVDT FERNLETLQQ ELGIEGENRV 

       250        260        270        280        290        300 
PVVYIAESDG SFLLSMLPTV LIIAFLLYTI RRGPAGIGRT GRGMGGLFSV GETTAKVLKD 

       310        320        330        340        350        360 
EIDVKFKDVA GCEEAKLEIM EFVNFLKNPK QYQDLGAKIP KGAILTGPPG TGKTLLAKAT 

       370        380        390        400        410        420 
AGEANVPFIT VSGSEFLEMF VGVGPARVRD LFALARKNAP CILFIDEIDA VGRKRGRGNF 

       430        440        450        460        470        480 
GGQSEQENTL NQLLVEMDGF NTTTNVVILA GTNRPDILDP ALLRPGRFDR QIFIGPPDIK 

       490        500        510        520        530        540 
GRASIFKVHL RPLKLDSALE KDKLARKLAS LTPGFSGADV ANVCNEAALI AARHLSDAIN 

       550        560        570        580        590        600 
EKHFEQAIER VIGGLEKKTQ VLQPEEKKTV AYHEAGHAVA GWYLEHADPL LKVSIIPRGK 

       610        620        630        640        650        660 
GLGYAQYLPK EQYLYTKEQL LDRMCMTLGG RVSEEIFFGR ITTGAQDDLR KVTQSAYAQI 

       670        680        690        700        710        720 
VQFGMNEKVG QISFDLPRQG DMVLEKPYSE ATARMIDDEV RILISDAYRR TVALLTEKKA 

       730        740        750        760        770        780 
DVEKVALLLL EKEVLDKNDM VQLLGPRPFT EKSTYEEFVE GTGSLDEDTS LPEGLQDWNK 

       790        800 
EREKEEKKEK EKEEPLNEKV VS 

« Hide

References

« Hide 'large scale' references
[1]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Strain: C57BL/6 and FVB/N.
Tissue: Brain and Kidney.
[2]Lubec G., Kang S.U.
Submitted (APR-2007) to UniProtKB
Cited for: PROTEIN SEQUENCE OF 173-181; 283-296 AND 632-650, IDENTIFICATION BY MASS SPECTROMETRY.
Strain: C57BL/6.
Tissue: Brain.
[3]"The mitochondrial protease AFG3L2 is essential for axonal development."
Maltecca F., Aghaie A., Schroeder D.G., Cassina L., Taylor B.A., Phillips S.J., Malaguti M., Previtali S., Guenet J.L., Quattrini A., Cox G.A., Casari G.
J. Neurosci. 28:2827-2836(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, VARIANT PAR GLY-389.
[4]"Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28."
Di Bella D., Lazzaro F., Brusco A., Plumari M., Battaglia G., Pastore A., Finardi A., Cagnoli C., Tempia F., Frontali M., Veneziano L., Sacco T., Boda E., Brussino A., Bonn F., Castellotti B., Baratta S., Mariotti C. expand/collapse author list , Gellera C., Fracasso V., Magri S., Langer T., Plevani P., Di Donato S., Muzi-Falconi M., Taroni F.
Nat. Genet. 42:313-321(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
[5]"SIRT5-mediated lysine desuccinylation impacts diverse metabolic pathways."
Park J., Chen Y., Tishkoff D.X., Peng C., Tan M., Dai L., Xie Z., Zhang Y., Zwaans B.M., Skinner M.E., Lombard D.B., Zhao Y.
Mol. Cell 50:919-930(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: SUCCINYLATION [LARGE SCALE ANALYSIS] AT LYS-116, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Liver.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
BC036999 mRNA. Translation: AAH36999.1.
BC043056 mRNA. Translation: AAH43056.1.
CCDSCCDS37847.1.
RefSeqNP_081406.1. NM_027130.1.
UniGeneMm.426052.

3D structure databases

ProteinModelPortalQ8JZQ2.
SMRQ8JZQ2. Positions 163-250, 295-749.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ8JZQ2. 3 interactions.
MINTMINT-4116623.
STRING10090.ENSMUSP00000025408.

Protein family/group databases

MEROPSM41.007.

PTM databases

PhosphoSiteQ8JZQ2.

Proteomic databases

MaxQBQ8JZQ2.
PaxDbQ8JZQ2.
PRIDEQ8JZQ2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000025408; ENSMUSP00000025408; ENSMUSG00000024527.
GeneID69597.
KEGGmmu:69597.
UCSCuc008fmf.1. mouse.

Organism-specific databases

CTD10939.
MGIMGI:1916847. Afg3l2.

Phylogenomic databases

eggNOGCOG0465.
GeneTreeENSGT00730000110911.
HOGENOMHOG000217277.
HOVERGENHBG050184.
InParanoidQ8JZQ2.
KOK08956.
OMAMAHRCLR.
OrthoDBEOG7NW68F.
PhylomeDBQ8JZQ2.
TreeFamTF105004.

Gene expression databases

ArrayExpressQ8JZQ2.
BgeeQ8JZQ2.
CleanExMM_AFG3L2.
GenevestigatorQ8JZQ2.

Family and domain databases

Gene3D3.40.50.300. 1 hit.
HAMAPMF_01458. FtsH.
InterProIPR003593. 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]
PfamPF00004. AAA. 1 hit.
PF06480. FtsH_ext. 1 hit.
PF01434. Peptidase_M41. 1 hit.
[Graphical view]
SMARTSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 1 hit.
TIGRFAMsTIGR01241. FtsH_fam. 1 hit.
PROSITEPS00674. AAA. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio329880.
PROQ8JZQ2.
SOURCESearch...

Entry information

Entry nameAFG32_MOUSE
AccessionPrimary (citable) accession number: Q8JZQ2
Entry history
Integrated into UniProtKB/Swiss-Prot: September 13, 2005
Last sequence update: October 1, 2002
Last modified: July 9, 2014
This is version 103 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

Peptidase families

Classification of peptidase families and list of entries

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot