Gene

degs1

ID
ZDB-GENE-030131-5283
Name
delta(4)-desaturase, sphingolipid 1
Symbol
degs1 Nomenclature History
Previous Names
  • degs (1)
  • fb81d06
  • im:6909319
  • wu:fa25h01
  • wu:fb81d06
Type
protein_coding_gene
Location
Chr: 13 Mapping Details/Browsers
Description
Is predicted to enable sphingolipid delta-4 desaturase activity. Involved in ceramide biosynthetic process. Acts upstream of or within sphingolipid biosynthetic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be integral component of membrane. Is expressed in nervous system; neural crest; notochord; pronephric duct; and yolk syncytial layer. Used to study hypomyelinating leukodystrophy. Human ortholog(s) of this gene implicated in hypomyelinating leukodystrophy. Orthologous to human DEGS1 (delta 4-desaturase, sphingolipid 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
13 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from Pant et al., 2019
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With degs1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Leukodystrophy, hypomyelinating, 18 618404
Associated With degs1 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR005804 Fatty acid desaturase domain
Domain IPR013866 Sphingolipid delta4-desaturase, N-terminal
Family IPR011388 Sphingolipid delta4-desaturase
Family IPR031196 Sphingolipid delta(4)-desaturase DES1
Domain Details Per Protein
Protein Length Fatty acid desaturase domain Sphingolipid delta4-desaturase Sphingolipid delta(4)-desaturase DES1 Sphingolipid delta4-desaturase, N-terminal
UniProtKB:B8A4A2 323
UniProtKB:Q7T3B5 323
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations