InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: AFG3L2

Summary

InnateDB Protein

IDBP-1120.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

AFG3L2

Protein Name

AFG3 ATPase family gene 3-like 2 (S. cerevisiae)

Synonyms

SCA28; SPAX5;

Species

Homo sapiens

Ensembl Protein

ENSP00000269143

InnateDB Gene

IDBG-1118 (AFG3L2)

Protein Structure

UniProt Annotation

Function

ATP-dependent protease which is essential for axonal development. {ECO:0000250}.

Subcellular Localization

Mitochondrion membrane {ECO:0000269PubMed:10395799}; Multi-pass membrane protein {ECO:0000269PubMed:10395799}.

Disease Associations

Spinocerebellar ataxia 28 (SCA28) [MIM:610246]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA28 is an autosomal dominant cerebellar ataxia (ADCA) with a slow progressive course and no evidence of sensory involvement or cognitive impairment. {ECO:0000269PubMed:20208537, ECO:0000269PubMed:20354562, ECO:0000269PubMed:20725928}. Note=The disease is caused by mutations affecting the gene represented in this entry.Spastic ataxia 5, autosomal recessive (SPAX5) [MIM:614487]: A neurodegenerative disorder characterized by early onset spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy. {ECO:0000269PubMed:22022284}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous. Highly expressed in the cerebellar Purkinje cells. {ECO:0000269PubMed:20208537}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.

Experimentally validated
Total	23 [view]
Protein-Protein	23 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004222	metalloendopeptidase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008270	zinc ion binding
GO:0017111	nucleoside-triphosphatase activity
GO:0051082	unfolded protein binding

Biological Process

GO:0006508	proteolysis
GO:0007005	mitochondrion organization
GO:0007409	axonogenesis
GO:0007528	neuromuscular junction development
GO:0008053	mitochondrial fusion
GO:0008219	cell death
GO:0016265	death
GO:0021675	nerve development
GO:0034982	mitochondrial protein processing
GO:0040014	regulation of multicellular organism growth
GO:0042407	cristae formation
GO:0042552	myelination
GO:0048747	muscle fiber development
GO:0060013	righting reflex

Cellular Component

GO:0005739	mitochondrion
GO:0005743	mitochondrial inner membrane
GO:0016020	membrane
GO:0016021	integral component of membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000642 Peptidase M41
IPR003593 AAA+ ATPase domain
IPR003959 ATPase, AAA-type, core
IPR005936 Peptidase, FtsH
IPR011546 Peptidase M41, FtsH extracellular
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF01434
PF00004
PF07724
PF13304
PF06480

PRINTS

PIRSF

SMART

SM00382

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9Y4W6