Gene
pmpca
- ID
- ZDB-GENE-030131-5809
- Name
- peptidase, mitochondrial processing subunit alpha
- Symbol
- pmpca Nomenclature History
- Previous Names
-
- wu:fi19e06
- wu:fj83d11
- zgc:101647
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable metal ion binding activity and metalloendopeptidase activity. Predicted to be involved in protein processing involved in protein targeting to mitochondrion. Predicted to act upstream of or within proteolysis. Predicted to be located in mitochondrial matrix. Predicted to be active in mitochondrion. Is expressed in several structures, including alar plate midbrain region; anterior neural keel; head; immature eye; and optic tectum. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 2. Orthologous to human PMPCA (peptidase, mitochondrial processing subunit alpha).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:101647 (12 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa20571 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive spinocerebellar ataxia 2 | Alliance | Spinocerebellar ataxia, autosomal recessive 2 | 213200 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR001431 | Peptidase M16, zinc-binding site |
| Domain | IPR007863 | Peptidase M16, C-terminal |
| Domain | IPR011765 | Peptidase M16, N-terminal |
| Family | IPR050361 | Mitochondrial Processing Peptidase/Ubiquinol-cytochrome c Reductase Complex |
| Homologous_superfamily | IPR011249 | Metalloenzyme, LuxS/M16 peptidase-like |
Domain Details Per Protein
| Protein | Additional Resources | Length | Metalloenzyme, LuxS/M16 peptidase-like | Mitochondrial Processing Peptidase/Ubiquinol-cytochrome c Reductase Complex | Peptidase M16, C-terminal | Peptidase M16, N-terminal | Peptidase M16, zinc-binding site |
|---|---|---|---|---|---|---|---|
| UniProtKB:Q5U3T6 | InterPro | 517 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-348L8 | ZFIN Curated Data | |
| Encodes | EST | fi19e06 | ||
| Encodes | EST | fj83d11 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:101647 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:192774 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001007442 (1) | 2233 nt | ||
| Genomic | GenBank:CU570890 (1) | 82299 nt | ||
| Polypeptide | UniProtKB:Q5U3T6 (1) | 517 aa |
- Huang, M., Akerberg, A.A., Zhang, X., Yoon, H., Joshi, S., Hallinan, C., Nguyen, C., Pu, W.T., Haigis, M.C., Burns, C.G., Burns, C.E. (2022) Intrinsic myocardial defects underlie an Rbfox-deficient zebrafish model of hypoplastic left heart syndrome. Nature communications. 13:5877
- Tallafuss, A., Hale, L.A., Yan, Y.L., Dudley, L., Eisen, J.S., and Postlethwait, J.H. (2006) Characterization of retinoid-X receptor genes rxra, rxrba, rxrbb and rxrg during zebrafish development. Gene expression patterns : GEP. 6(5):556-565
- Woods, I.G., Wilson, C., Friedlander, B., Chang, P., Reyes, D.K., Nix, R., Kelly, P.D., Chu, F., Postlethwait, J.H., and Talbot, W.S. (2005) The zebrafish gene map defines ancestral vertebrate chromosomes. Genome research. 15(9):1307-1314
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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