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 serine C-palmitoyltransferase activity. Predicted to be involved in ceramide biosynthetic process and sphingosine biosynthetic process. Predicted to localize to serine C-palmitoyltransferase complex. 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
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
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 |
Homologous_superfamily | IPR015421 | Pyridoxal phosphate-dependent transferase, major domain |
Homologous_superfamily | IPR015422 | Pyridoxal phosphate-dependent transferase domain 1 |
Homologous_superfamily | IPR015424 | Pyridoxal phosphate-dependent transferase |
Domain Details Per Protein
Protein | Length | Aminotransferase, class I/classII | Aminotransferase, class-II, pyridoxal-phosphate binding site | Pyridoxal phosphate-dependent transferase | Pyridoxal phosphate-dependent transferase domain 1 | Pyridoxal phosphate-dependent transferase, major domain |
---|---|---|---|---|---|---|
UniProtKB:F8W491
|
236 | |||||
UniProtKB:F1QCX4
|
558 | |||||
UniProtKB:Q503F0
|
534 |
Type | Name | Length (nt) | Analysis |
---|---|---|---|
aberrant processed transcript |
sptlc2a-204
(1)
|
2017 nt | |
mRNA |
sptlc2a-201
(1)
|
1878 nt | |
ncRNA |
sptlc2a-003
(1)
|
703 nt | |
ncRNA |
sptlc2a-004
(1)
|
539 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Gene Tree
- Ensembl