Gene
sptlc1
- ID
- ZDB-GENE-050522-61
- Name
- serine palmitoyltransferase, long chain base subunit 1
- Symbol
- sptlc1 Nomenclature History
- Previous Names
-
- fc75h04
- fp41c08
- wu:fc75h04
- wu:fp41c08
- zgc:112247 (1)
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to have catalytic activity and pyridoxal phosphate binding activity. Predicted to be involved in biosynthetic process. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in hereditary sensory and autonomic neuropathy type 1A. Orthologous to human SPTLC1 (serine palmitoyltransferase long chain base subunit 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7165371 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 5 figures from Castanon et al., 2020
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hereditary sensory and autonomic neuropathy type 1A | Alliance | Neuropathy, hereditary sensory and autonomic, type IA | 162400 |
| juvenile amyotrophic lateral sclerosis type 27 | Alliance | Amyotrophic lateral sclerosis 27, juvenile | 620285 |
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 |
Domain Details Per Protein
| Protein | 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:Q502G6
|
472 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
sptlc1-201
(1)
|
Ensembl | 2,083 nt | ||
| mRNA |
sptlc1-202
(1)
|
Ensembl | 2,109 nt |
Interactions and Pathways
No data available
Plasmids
No data available