Gene
tefm
- ID
- ZDB-GENE-060825-345
- Name
- transcription elongation factor, mitochondrial
- Symbol
- tefm Nomenclature History
- Previous Names
-
- zgc:153083
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to enable DNA polymerase processivity factor activity and transcription elongation factor activity. Predicted to be involved in mitochondrial transcription and positive regulation of mitochondrial transcription. Predicted to act upstream of or within transcription elongation by mitochondrial RNA polymerase and translational elongation. Predicted to be located in mitochondrial matrix. Predicted to be part of ribonucleoprotein complex. Predicted to be active in mitochondrial nucleoid. Human ortholog(s) of this gene implicated in combined oxidative phosphorylation deficiency. Orthologous to human TEFM (transcription elongation factor, mitochondrial).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| mn0360Gt | Transgenic insertion | Unknown | Unknown | DNA |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-tefm | Van Haute et al., 2023 | |
| CRISPR2-tefm | Van Haute et al., 2023 | |
| CRISPR3-tefm | Van Haute et al., 2023 | |
| MO1-tefm | N/A | Van Haute et al., 2023 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Combined oxidative phosphorylation deficiency 58 | 620451 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Ribonuclease H superfamily | RuvA domain 2-like | Transcription elongation factor, mitochondrial |
|---|---|---|---|---|---|
| UniProtKB:Q0P4D6 | InterPro | 363 | |||
| UniProtKB:A0A8M2BDK3 | InterPro | 317 | |||
| UniProtKB:A0A8M6Z6R6 | InterPro | 354 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-10P5 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:153083 | ZFIN Curated Data | |
| Has Artifact | EST | fb23b03 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001080026 (1) | 1635 nt | ||
| Genomic | GenBank:AL954746 (1) | 231840 nt | ||
| Polypeptide | UniProtKB:Q0P4D6 (1) | 363 aa |
- Van Haute, L., O'Connor, E., Díaz-Maldonado, H., Munro, B., Polavarapu, K., Hock, D.H., Arunachal, G., Athanasiou-Fragkouli, A., Bardhan, M., Barth, M., Bonneau, D., Brunetti-Pierri, N., Cappuccio, G., Caruana, N.J., Dominik, N., Goel, H., Helman, G., Houlden, H., Lenaers, G., Mention, K., Murphy, D., Nandeesh, B., Olimpio, C., Powell, C.A., Preethish-Kumar, V., Procaccio, V., Rius, R., Rebelo-Guiomar, P., Simons, C., Vengalil, S., Zaki, M.S., Ziegler, A., Thorburn, D.R., Stroud, D.A., Maroofian, R., Christodoulou, J., Gustafsson, C., Nalini, A., Lochmüller, H., Minczuk, M., Horvath, R. (2023) TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nature communications. 14:10091009
- Ding, Y., Lang, D., Yan, J., Bu, H., Li, H., Jiao, K., Yang, J., Ni, H., Morotti, S., Le, T., Clark, K.J., Port, J., Ekker, S.C., Cao, H., Zhang, Y., Wang, J., Grandi, E., Li, Z., Shi, Y., Li, Y., Glukhov, A.V., Xu, X. (2022) A phenotype-based forward genetic screen identifies Dnajb6 as a sick sinus syndrome gene. eLIFE. 11:
- Ding, Y., Long, P.A., Bos, J.M., Shih, Y.H., Ma, X., Sundsbak, R.S., Chen, J., Jiang, Y., Zhao, L., Hu, X., Wang, J., Shi, Y., Ackerman, M.J., Lin, X., Ekker, S.C., Redfield, M.M., Olson, T.M., Xu, X. (2016) A modifier screen identifies DNAJB6 as a cardiomyopathy susceptibility gene.. JCI insight. 1(14)
- 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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