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

Expression

All Expression Data

1 figure from Thisse et al., 2004

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

IMAGE:7165371 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 5 figures from Castanon et al., 2020
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With sptlc1 Human Ortholog

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

Associated With sptlc1 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR004839	Aminotransferase, class I/classII
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