degs1 delta(4)-desaturase, sphingolipid 1 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: degs1provided by ZNC
Official Full Name: delta(4)-desaturase, sphingolipid 1provided by ZNC
Primary source: ZFIN:ZDB-GENE-030131-5283
See related: Ensembl:ENSDARG00000007347 AllianceGenome:ZFIN:ZDB-GENE-030131-5283
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: degs; fb81d06; im:6909319; wu:fa25h01; wu:fb81d06
Summary: Predicted to enable sphingolipid delta-4 desaturase activity. Predicted to be involved in ceramide biosynthetic process. Predicted to act upstream of or within sphingolipid biosynthetic process. Predicted to be located in endoplasmic reticulum 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 18. Orthologous to human DEGS1 (delta 4-desaturase, sphingolipid 1). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 13

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	13	NC_007124.7 (502297..514843)
105	previous assembly	GRCz10 (GCF_000002035.5)	13	NC_007124.6 (372006..384557)

Chromosome 13 - NC_007124.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

enzymatic inhibition of Cer synthase by fingolimod, 1 step prior to DEGS1 in the pathway, reduced the critical DhCer/Cer imbalance and the severe locomotor disability, increasing the number of myelinating oligodendrocytes in a zebrafish model.
Title: Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables isomerase activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables sphingolipid delta-4 desaturase activity	IBA Inferred from Biological aspect of Ancestor more info
enables sphingolipid delta-4 desaturase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in ceramide biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within sphingolipid biosynthetic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: sphingolipid delta(4)-desaturase DES1

Names: degenerative spermatocyte homolog 1, lipid desaturase; degenerative spermatocyte homolog, lipid desaturase

NP_997865.1

EC 1.14.19.17

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_212700.1 → NP_997865.1 sphingolipid delta(4)-desaturase DES1

See identical proteins and their annotated locations for NP_997865.1

Status: PROVISIONAL

Source sequence(s)

BC053183

UniProtKB/TrEMBL

Q7T3B5

Related

ENSDARP00000008702.5, ENSDART00000013007.6

Conserved Domains (3) summary

PLN02579
Location:5 → 315

PLN02579; sphingolipid delta-4 desaturase

cd03508
Location:26 → 315

Delta4-sphingolipid-FADS-like; The Delta4-sphingolipid Fatty Acid Desaturase (Delta4-sphingolipid-FADS)-like CD includes the integral-membrane enzymes, dihydroceramide Delta-4 desaturase, involved in the synthesis of sphingosine; and the human membrane fatty acid (lipid) desaturase ...

pfam08557
Location:7 → 42

Lipid_DES; Sphingolipid Delta4-desaturase (DES)