Gene
abhd12
- ID
- ZDB-GENE-060929-268
- Name
- abhydrolase domain containing 12, lysophospholipase
- Symbol
- abhd12 Nomenclature History
- Previous Names
-
- zgc:153367
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to enable lysophospholipase activity and monoacylglycerol lipase activity. Acts upstream of or within myelination; sensory system development; and swimming behavior. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum membrane. Is expressed in gill; gonad; liver; muscle; and nervous system. Used to study PHARC syndrome. Human ortholog(s) of this gene implicated in PHARC syndrome. Orthologous to human ABHD12 (abhydrolase domain containing 12, lysophospholipase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from Tingaud-Sequeira et al., 2017
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
No data available
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-abhd12 | N/A | Gonzaga-Jauregui et al., 2015 |
| MO2-abhd12 | N/A | Tingaud-Sequeira et al., 2017 |
| MO3-abhd12 | N/A | Tingaud-Sequeira et al., 2017 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| PHARC syndrome | Alliance | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 612674 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| PHARC syndrome | WT + MO2-abhd12 | standard conditions | Tingaud-Sequeira et al., 2017 |
| PHARC syndrome | WT + MO3-abhd12 | standard conditions | Tingaud-Sequeira et al., 2017 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Alpha/Beta hydrolase fold | Alpha/beta hydrolase fold-1 |
|---|---|---|---|---|
| UniProtKB:Q08C93 | InterPro | 382 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
abhd12-201
(1)
|
Ensembl | 6,067 nt | ||
| mRNA |
abhd12-202
(1)
|
Ensembl | 951 nt |
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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 | CH211-67N1 | ZFIN Curated Data | |
| Contained in | BAC | CH211-79L10 | ||
| Encodes | cDNA | MGC:153367 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001076597 (1) | 1796 nt | ||
| Genomic | GenBank:AL929290 (1) | 168517 nt | ||
| Polypeptide | UniProtKB:Q08C93 (1) | 382 aa |
- Tang, S.L., Liang, X.F., He, S., Li, L., Alam, M.S., Wu, J. (2022) Comparative Study of the Molecular Characterization, Evolution, and Structure Modeling of Digestive Lipase Genes Reveals the Different Evolutionary Selection Between Mammals and Fishes. Frontiers in genetics. 13:909091
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Tingaud-Sequeira, A., Raldúa, D., Lavie, J., Mathieu, G., Bordier, M., Knoll-Gellida, A., Rambeau, P., Coupry, I., André, M., Malm, E., Möller, C., Andreasson, S., Rendtorff, N.D., Tranebjærg, L., Koenig, M., Lacombe, D., Goizet, C., Babin, P.J. (2017) Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC. Neurobiology of disease. 98:36-51
- 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
- Gonzaga-Jauregui, C., Harel, T., Gambin, T., Kousi, M., Griffin, L.B., Francescatto, L., Ozes, B., Karaca, E., Jhangiani, S.N., Bainbridge, M.N., Lawson, K.S., Pehlivan, D., Okamoto, Y., Withers, M., Mancias, P., Slavotinek, A., Reitnauer, P.J., Goksungur, M.T., Shy, M., Crawford, T.O., Koenig, M., Willer, J., Flores, B.N., Pediaditrakis, I., Us, O., Wiszniewski, W., Parman, Y., Antonellis, A., Muzny, D.M., Baylor-Hopkins Center for Mendelian Genomics, Katsanis, N., Battaloglu, E., Boerwinkle, E., Gibbs, R.A., Lupski, J.R. (2015) Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Reports. 12(7):1169-83
- 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
- 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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