Gene
sptlc2a
- ID
- ZDB-GENE-050522-23
- Name
- serine palmitoyltransferase, long chain base subunit 2a
- Symbol
- sptlc2a Nomenclature History
- Previous Names
-
- sptlc2
- zgc:110661
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to have pyridoxal phosphate binding activity and transferase 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 1C. Orthologous to human SPTLC2 (serine palmitoyltransferase long chain base subunit 2).
- 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
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hereditary sensory and autonomic neuropathy type 1C | Alliance | Neuropathy, hereditary sensory and autonomic, type IC | 613640 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR001917 | Aminotransferase, class-II, pyridoxal-phosphate binding site |
| 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 | Aminotransferase, class-II, pyridoxal-phosphate binding site | Pyridoxal phosphate-dependent transferase | Pyridoxal phosphate-dependent transferase, major domain | Pyridoxal phosphate-dependent transferase, small domain |
|---|---|---|---|---|---|---|---|
|
UniProtKB:Q503F0
|
534 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| aberrant processed transcript |
sptlc2a-204
(1)
|
Ensembl | 2,017 nt | ||
| mRNA |
sptlc2a-201
(1)
|
Ensembl | 1,878 nt | ||
| ncRNA |
sptlc2a-003
(1)
|
Ensembl | 703 nt | ||
| ncRNA |
sptlc2a-004
(1)
|
Ensembl | 539 nt |
Interactions and Pathways
No data available
Plasmids
No data available