Gene
sptlc3
- ID
- ZDB-GENE-041210-281
- Name
- serine palmitoyltransferase, long chain base subunit 3
- Symbol
- sptlc3 Nomenclature History
- Previous Names
-
- si:dkey-246k9.1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to enable serine C-palmitoyltransferase activity. Predicted to be involved in ceramide biosynthetic process and sphingosine biosynthetic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be part of serine palmitoyltransferase complex. Is expressed in EVL; gut; periderm; and pronephric duct. Orthologous to human SPTLC3 (serine palmitoyltransferase long chain base subunit 3).
- 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
-
- IMAGE:7155977 (6 images)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Gonzaga-Jauregui et al., 2015
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
sa35545 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
MO1-sptlc3 | N/A | Gonzaga-Jauregui et al., 2015 |
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Human Disease
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR004839 | Aminotransferase, class I/classII, large domain |
Family | IPR050087 | 8-amino-7-oxononanoate synthase class-II |
Homologous_superfamily | IPR015421 | Pyridoxal phosphate-dependent transferase, major domain |
Homologous_superfamily | IPR015422 | Pyridoxal phosphate-dependent transferase, small domain |
Homologous_superfamily | IPR015424 | Pyridoxal phosphate-dependent transferase |
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Domain Details Per Protein
Protein | Additional Resources | Length | 8-amino-7-oxononanoate synthase class-II | Aminotransferase, class I/classII, large domain | Pyridoxal phosphate-dependent transferase | Pyridoxal phosphate-dependent transferase, major domain | Pyridoxal phosphate-dependent transferase, small domain |
---|---|---|---|---|---|---|---|
UniProtKB:A0A8M9Q9N3 | InterPro | 553 | |||||
UniProtKB:Q6DC52 | InterPro | 553 | |||||
UniProtKB:A0A8M9QND3 | InterPro | 282 |
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Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
sptlc3-201
(1)
|
Ensembl | 2,101 nt | ||
mRNA |
sptlc3-202
(1)
|
Ensembl | 1,020 nt | ||
mRNA |
sptlc3-203
(1)
|
Ensembl | 2,510 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 | DKEY-246K9 | ZFIN Curated Data | |
Encodes | EST | IMAGE:7155977 | Thisse et al., 2004 | |
Has Artifact | cDNA | MGC:101107 | (2) |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001003562 (1) | 2524 nt | ||
Genomic | GenBank:CR376850 (1) | 243887 nt | ||
Polypeptide | UniProtKB:A0A8M9Q9N3 (1) | 553 aa |
- Zhang, T., Trauger, S.A., Vidoudez, C., Doane, K.P., Pluimer, B.R., Peterson, R.T. (2019) Parallel Reaction Monitoring reveals structure-specific ceramide alterations in the zebrafish. Scientific Reports. 9:19939
- 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
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