Degs1 delta(4)-desaturase, sphingolipid 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Degs1provided by RGD
Official Full Name: delta(4)-desaturase, sphingolipid 1provided by RGD
Primary source: RGD:70917
See related: Ensembl:ENSRNOG00000003223 AllianceGenome:RGD:70917
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Degs
Summary: Predicted to enable retinol isomerase activity and sphingolipid delta-4 desaturase activity. Predicted to be involved in ceramide biosynthetic process and myelin maintenance. Predicted to act upstream of or within positive regulation of apoptotic process. Predicted to be located in mitochondrion. Human ortholog(s) of this gene implicated in hypomyelinating leukodystrophy. Orthologous to human DEGS1 (delta 4-desaturase, sphingolipid 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Kidney (RPKM 220.4), Lung (RPKM 210.7) and 9 other tissues See more
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Genomic context

Location:: 13q26

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	13	NC_086031.1 (96478645..96485302, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	13	NC_051348.1 (93946154..93953677, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	13	NC_005112.4 (100665265..100672731, complement)

Chromosome 13 - NC_086031.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

the myristic acid-associated increase in DES1 activity slightly enhanced the number of apoptotic cells
Title: Myristic acid increases dihydroceramide Δ4-desaturase 1 (DES1) activity in cultured rat hepatocytes.
overexpression of DEGS1 or DEGS2 attenuates the DHC accumulation and increased cell proliferation during hypoxia
Title: Dihydroceramide-based response to hypoxia.

Submit: New GeneRIF Correction

General gene information

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Markers

RH138401 (e-PCR)
- UniSTS:220488

RH132926 (e-PCR)
- UniSTS:216209

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables cis-trans isomerase activity	ISS Inferred from Sequence or Structural Similarity more info
enables retinol isomerase activity	ISO Inferred from Sequence Orthology more info
enables retinol isomerase activity	ISS Inferred from Sequence or Structural Similarity more info
enables sphingolipid delta-4 desaturase activity	IBA Inferred from Biological aspect of Ancestor more info
enables sphingolipid delta-4 desaturase activity	ISO Inferred from Sequence Orthology 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 ceramide biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in fatty acid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in myelin maintenance	ISO Inferred from Sequence Orthology more info
involved_in myelin maintenance	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of apoptotic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	ISO Inferred from Sequence Orthology 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-like protein RDES; dihydroceramide desaturase-1; retinol isomerase

NP_445775.2

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_053323.2 → NP_445775.2 sphingolipid delta(4)-desaturase DES1

See identical proteins and their annotated locations for NP_445775.2

Status: PROVISIONAL

Source sequence(s)

BC083727

UniProtKB/Swiss-Prot

Q564G4, Q5XIF5, Q91XI6

UniProtKB/TrEMBL

A6JGL3

Related

ENSRNOP00000004319.2, ENSRNOT00000004319.4

Conserved Domains (2) summary

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:6 → 42

Lipid_DES; Sphingolipid Delta4-desaturase (DES)