Gene
amfra
- ID
- ZDB-GENE-040426-2190
- Name
- autocrine motility factor receptor a
- Symbol
- amfra Nomenclature History
- Previous Names
-
- amfr
- wu:fi06e06
- wu:fi37e05
- zgc:63893 (1)
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Enables ubiquitin protein ligase activity. Acts upstream of or within protein polyubiquitination and response to endoplasmic reticulum stress. Located in endoplasmic reticulum membrane. Is expressed in brain; digestive system; eye; heart; and muscle. Used to study hereditary spastic paraplegia. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 89. Orthologous to human AMFR (autocrine motility factor receptor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:63893 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hereditary spastic paraplegia 89 | Alliance | Spastic paraplegia 89, autosomal recessive | 620379 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| hereditary spastic paraplegia | amfrare31/re31 | standard conditions | Deng et al., 2023 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | E3 ubiquitin-protein ligase AMFR, Ube2g2-binding region | Ubiquitin system component CUE | Zinc finger, RING/FYVE/PHD-type | Zinc finger, RING-type |
|---|---|---|---|---|---|---|
| UniProtKB:F1QB30 | InterPro | 620 | ||||
| UniProtKB:Q6PFU8 | InterPro | 620 | ||||
| UniProtKB:A0AAB0GW22 | InterPro | 620 |
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- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-46G7 | ZFIN Curated Data | |
| Encodes | EST | fi06e06 | Dildrop et al., 2004 | |
| Encodes | EST | fi37e05 | ||
| Encodes | cDNA | MGC:63893 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_213163 (1) | 4261 nt | ||
| Genomic | GenBank:CU855766 (1) | 109038 nt | ||
| Polypeptide | UniProtKB:A0AAB0GW22 (1) | 620 aa |
- Deng, R., Medico-Salsench, E., Nikoncuk, A., Ramakrishnan, R., Lanko, K., Kühn, N.A., van der Linde, H.C., Lor-Zade, S., Albuainain, F., Shi, Y., Yousefi, S., Capo, I., van den Herik, E.M., van Slegtenhorst, M., van Minkelen, R., Geeven, G., Mulder, M.T., Ruijter, G.J.G., Lütjohann, D., Jacobs, E.H., Houlden, H., Pagnamenta, A.T., Metcalfe, K., Jackson, A., Banka, S., De Simone, L., Schwaede, A., Kuntz, N., Palculict, T.B., Abbas, S., Umair, M., AlMuhaizea, M., Colak, D., AlQudairy, H., Alsagob, M., Pereira, C., Trunzo, R., Karageorgou, V., Bertoli-Avella, A.M., Bauer, P., Bouman, A., Hoefsloot, L.H., van Ham, T.J., Issa, M., Zaki, M.S., Gleeson, J.G., Willemsen, R., Kaya, N., Arold, S.T., Maroofian, R., Sanderson, L.E., Barakat, T.S. (2023) AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model. Acta Neuropathologica. 146(2):353-368
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Chen, Z., Ballar, P., Fu, Y., Luo, J., Du, S., Fang, S. (2014) The E3 Ubiquitin Ligase gp78 Protects against ER Stress in Zebrafish Liver. Journal of genetics and genomics = Yi chuan xue bao. 41:357-68
- Steinke, D., Salzburger, W., Braasch, I., and Meyer, A. (2006) Many genes in fish have species-specific asymmetric rates of molecular evolution. BMC Genomics. 7(1):20
- Titus, T.A., Selvig, D.R., Qin, B., Wilson, C., Starks, A.M., Roe, B.A., and Postlethwait, J.H. (2006) The Fanconi anemia gene network is conserved from zebrafish to human. Gene. 371(2):211-223
- 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
- Dildrop, R., and Ruther, U. (2004) Organization of Iroquois genes in fish. Development genes and evolution. 214(6):267-276
- 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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