Description: Homo sapiens AFG3 ATPase family member 3-like 2 (S. cerevisiae) (AFG3L2), nuclear gene encoding mitochondrial protein, mRNA. RefSeq Summary (NM_006796): This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr18:12,328,943-12,377,275 Size: 48,333 Total Exon Count: 17 Strand: - Coding Region Position: hg19 chr18:12,329,564-12,377,081 Size: 47,518 Coding Exon Count: 17
ID:AFG32_HUMAN DESCRIPTION: RecName: Full=AFG3-like protein 2; EC=3.4.24.-; AltName: Full=Paraplegin-like protein; FUNCTION: ATP-dependent protease which is essential for axonal development (By similarity). COFACTOR: Binds 1 zinc ion per subunit (Potential). SUBUNIT: Homooligomer. Interacts with SPG7; the interaction is required for the efficient assembly of mitochondrial complex I. SUBCELLULAR LOCATION: Mitochondrion membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Ubiquitous. Highly expressed in the cerebellar Purkinje cells. DISEASE: Defects in AFG3L2 are the cause of spinocerebellar ataxia type 28 (SCA28) [MIM:610246]. It 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. DISEASE: Defects in AFG3L2 are the cause of spastic ataxia autosomal recessive type 5 (SPAX5) [MIM:614487]. A neurodegenerative disorder characterized by early onset spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy. SIMILARITY: In the N-terminal section; belongs to the AAA ATPase family. SIMILARITY: In the C-terminal section; belongs to the peptidase M41 family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9Y4W6
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
KJ898315 - Synthetic construct Homo sapiens clone ccsbBroadEn_07709 AFG3L2 gene, encodes complete protein. Y18314 - Homo sapiens mRNA for paraplegin-like protein. BC065016 - Homo sapiens AFG3 ATPase family gene 3-like 2 (yeast), mRNA (cDNA clone MGC:70766 IMAGE:6169804), complete cds. BC024282 - Homo sapiens, Similar to AFG3 ATPase family gene 3-like 2 (yeast), clone IMAGE:4840336, mRNA, partial cds. AK129504 - Homo sapiens cDNA FLJ25993 fis, clone DMC03573, highly similar to AFG3-like protein 2 (EC 3.4.24.-). JD428662 - Sequence 409686 from Patent EP1572962. JD498123 - Sequence 479147 from Patent EP1572962. JD144904 - Sequence 125928 from Patent EP1572962. JD316339 - Sequence 297363 from Patent EP1572962. JD491866 - Sequence 472890 from Patent EP1572962. JD079953 - Sequence 60977 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q9Y4W6 (Reactome details) participates in the following event(s):
R-HSA-8949661 C2orf47:AFG3L2 binds the transit peptide of SMDT1 R-HSA-8949649 PMPCA:PMPCB cleaves the transit peptide of proSMDT1 (proEMRE) R-HSA-8949664 Processing of SMDT1 R-HSA-8949215 Mitochondrial calcium ion transport R-HSA-382551 Transport of small molecules
US Server
