DEGS1 (delta 4-desaturase, sphingolipid 1)

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Gene: DEGS1 (delta 4-desaturase, sphingolipid 1) Sus scrofa

Analyze

Symbol:

DEGS1

Name:

delta 4-desaturase, sphingolipid 1

RGD ID:

14123651

Description:

ENCODES a protein that exhibits retinol isomerase activity (ortholog); sphingolipid delta-4 desaturase activity (ortholog); INVOLVED IN ceramide biosynthetic process (ortholog); positive regulation of apoptotic process (ortholog); ASSOCIATED WITH genetic disease (ortholog); Hypomyelinating Leukodystrophy 18 (ortholog); leukodystrophy (ortholog); FOUND IN endoplasmic reticulum membrane (inferred); integral component of membrane (inferred); mitochondrion (inferred)

Type:

protein-coding

RefSeq Status:

VALIDATED

Also known as:

degenerative spermatocyte homolog 1, lipid desaturase; DES1; sphingolipid delta 4 desaturase; sphingolipid delta(4)-desaturase DES1

RGD Orthologs

Human

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

Latest Assembly:

Sscrofa11.1 - Pig Sscrofa11.1 Assembly

Position:

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	10	12,557,766 - 12,569,008 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	10	12,529,021 - 12,568,447 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	10	14,976,597 - 15,053,245 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

genetic disease (ISO)

Hypomyelinating Leukodystrophy 18 (ISO)

leukodystrophy (ISO)

Prostatic Neoplasms (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

ceramide biosynthetic process (IBA,ISO)

myelin maintenance (IEA)

positive regulation of apoptotic process (ISO)

Cellular Component

endoplasmic reticulum membrane (IEA)

integral component of membrane (IEA)

mitochondrion (IEA)

Molecular Function

protein binding (ISO)

retinol isomerase activity (IEA,ISO)

sphingolipid delta-4 desaturase activity (IBA,ISO)

References

Additional References at PubMed

PMID:14681463	PMID:15679890	PMID:17145712

Genomics

Comparative Map Data

DEGS1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	10	12,557,766 - 12,569,008 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	10	12,529,021 - 12,568,447 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	10	14,976,597 - 15,053,245 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

DEGS1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	1	224,175,756 - 224,193,441 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	1	224,183,240 - 224,193,441 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	1	224,370,910 - 224,381,143 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
GRCh37	1	224,370,942 - 224,381,143 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	222,437,551 - 222,447,766 (+)	NCBI	NCBI36		hg18	NCBI36
Celera	1	197,561,861 - 197,572,073 (+)	NCBI
Cytogenetic Map	1	q42.11	NCBI
HuRef	1	194,891,445 - 194,901,670 (+)	NCBI		HuRef
CHM1_1	1	225,643,571 - 225,653,792 (+)	NCBI		CHM1_1

Degs1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	1	182,103,529 - 182,110,366 (-)	NCBI	GRCm39		mm39
GRCm38	1	182,275,964 - 182,282,854 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	1	182,275,772 - 182,282,804 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	1	184,205,901 - 184,212,890 (-)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	1	184,112,445 - 184,119,434 (-)	NCBI			mm8
Celera	1	189,318,025 - 189,324,947 (-)	NCBI		Celera
Cytogenetic Map	1	H5	NCBI

Degs1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	13	93,946,154 - 93,953,677 (-)	NCBI
Rnor_6.0 Ensembl	13	100,666,075 - 100,672,731 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0	13	100,665,265 - 100,672,731 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	13	105,599,106 - 105,606,572 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	13	98,242,981 - 98,249,638 (-)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	13	98,431,962 - 98,438,556 (-)	NCBI
Celera	13	93,480,467 - 93,487,120 (-)	NCBI		Celera
Cytogenetic Map	13	q26	NCBI

Degs1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955520	1,135,563 - 1,143,192 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955520	1,139,568 - 1,143,149 (-)	NCBI	ChiLan1.0	ChiLan1.0

DEGS1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	1	204,659,389 - 204,683,171 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	204,659,389 - 204,668,901 (+)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	1	199,651,712 - 199,661,848 (+)	NCBI	Mhudiblu_PPA_v0		panPan3

DEGS1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1 Ensembl	7	40,147,505 - 40,153,085 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
CanFam3.1	7	40,147,293 - 40,152,190 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1

Degs1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
SpeTri2.0	NW_004936526	1,149,984 - 1,153,632 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

DEGS1
(Chlorocebus sabaeus - African green monkey)

Vervet Assembly	Chr	Position (strand)	Source	Genome Browsers
Vervet Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	25	5,589,530 - 5,603,261 (-)	NCBI
ChlSab1.1 Ensembl	25	5,589,383 - 5,603,227 (-)	Ensembl

Degs1
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624835	5,880,855 - 5,889,295 (+)	NCBI

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

	alimentary part of gastrointestinal system	circulatory system	endocrine system	hemolymphoid system	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system
High
Medium	9	2	3	5	1	23	2	3	3
Low	1	2			1
Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001244121	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005653768	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AEMK02000071	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK232473	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK234137	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK236140	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK236774	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK399183	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY609708	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY632774	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GFLN01014796	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENSSSCT00000025010 ⟹ ENSSSCP00000024516

RefSeq Status:

Type:

CODING

Position:

Pig Assembly	Chr	Position (strand)	Source
Sscrofa11.1 Ensembl	10	12,557,766 - 12,569,008 (+)	Ensembl

RefSeq Acc Id:

NM_001244121 ⟹ NP_001231050

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Pig Assembly	Chr	Position (strand)	Source
Sscrofa11.1	10	12,557,765 - 12,568,447 (+)	NCBI

Sequence:

show sequence

TGACACGAGTCGGGAGCTGCCGCCGCTGCCGTCGCCGCTTTCGCCTTCACCTCGGAGATCGAGA
GCGGGGAGCAGGCTCGCGAGCCGCCGCCGCCTCCGTCGCCGCCATGGGGAACCGAGTTGCGCGG
GAAGACTTCGAGTGGGTCTACACTGACCAGCCCCACGCCAGTCGGCGCCAGGAGATCCTGGCAA
AGTATCCCGAGATAAAATCTTTGATGAAACCTGATTCCAACTTGATATGGATTGTAATTTTGAT
GGTTCTCAGTCAGTTAATTGCATTTTATTTAGTAAAGGACTTGGACTGGAAATGGGTCATATTT
TGGGCATATGCCTTTGGAAGCTGCATTAATCATTCCATGACTCTGGCTATTCATGAAGTGTCCC
ACAATAGTGCCTTTGGCCACTGCAAACCTATGTGGAATCGTTGGTTTGGAGTATTTGCTAATCT
CCCTATTGGTGTTCCGTATTCCGTTTCCTTTAAGAGGTATCACATGGATCATCATCGATACCTC
GGAAGTGATGGCATCGACGTGGATATTCCAACTGATTTCGAAGGCTGGTTCTTCTGCACCACTT
TCAGAAAGTTTATGTGGGTTATTCTTCAGCCGCTCTTTTATGCCTTTCGACCTCTGTTCATCAA
CCCCAAGCCAATTTCCTATCTGGAGATTATCAATACTGTGATCCAGGTCACTTTTGACGTTGTG
ATTTACTACGTCTTGGGAATGAAATCTTTAGTCTACATGCTGTCAGCATCCTTACTTGGTCTAG
GTTTGCACCCAATTTCTGGACATTTTATAGCTGAACATTACATGTTCTTAAAAGGGCATGAAAC
TTACTCGTATTACGGGCCTCTGAACTTACTCACCTTCAACGTGGGCTACCACAACGAGCACCAT
GACTTCCCCAACATTCCCGGGAAAAACCTTCCCCTGGTGAGGAAAATAGCAGCGGAGTACTATG
ACAACCTCCCCCACTATAATTCCTGGATAAAAGTACTGTATGATTTTGTGACGGATGATACAAT
AAGTCCTTATTCGAGAATGAAGAGGCATCAGAAAGGCAAGGTGTTTCTGGAGTAAGCATCATTG
TAGCCAAAGGACCTCCTCCCTGACACTTCACAATAGCTGATGAAGTGGAATCTTCCCATGATTA
AATTAAGACCAGTGATGTATAGACGAGCCCCTCGTACAATGTTAAGTATGATCTCCACAGTATC
AAGAAGCTAATCTGACTTTCGGCAGCCAGCCTGGCTGCACCGTTTCAGCTTTACTCACAGGAAC
CTTGTTGGTTCTGTCACCACTGTGGTGGGTTTTCTCACTGATTTCTGATGTTTTGTAAGCGTAT
CATAAAAAGGAGCTTTTAAAAAGCTATTTCTAGTTCATTATTTTCACTCTAAGGATTTACTTTA
TTAAAATGGCTAATAAACCGAGATATTAATCACAAAAAAAAAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

XM_005653768 ⟹ XP_005653825

RefSeq Status:

Type:

CODING

Position:

Pig Assembly	Chr	Position (strand)	Source
Sscrofa11.1	10	12,529,021 - 12,568,447 (+)	NCBI

Sequence:

show sequence

AGGTCACGGGGCGCGTGGGGCGGGCCTGGAGGGGGCGGGTATTCTGGGCAAGGCCCGGGCCTGC
CCCGCCCCGTCCCCGCCGCCCGAGGTCGGCCCCTCCTTCCGCGCGACACACCTCCAGTCTCTCA
GGTTGGGGGCGTTTGGATTCTGAGGAAGTCGCGGGACCCCGTCCGCATCCTCCGCGCTGCGAGT
TAAGTGTTTCGGACAACTCAAGCAAAGTATCCCGAGATAAAATCTTTGATGAAACCTGATTCCA
ACTTGATATGGATTGTAATTTTGATGGTTCTCAGTCAGTTAATTGCATTTTATTTAGTAAAGGA
CTTGGACTGGAAATGGGTCATATTTTGGGCATATGCCTTTGGAAGCTGCATTAATCATTCCATG
ACTCTGGCTATTCATGAAGTGTCCCACAATAGTGCCTTTGGCCACTGCAAACCTATGTGGAATC
GTTGGTTTGGAGTATTTGCTAATCTCCCTATTGGTGTTCCGTATTCCGTTTCCTTTAAGAGGTA
TCACATGGATCATCATCGATACCTCGGAAGTGATGGCATCGACGTGGATATTCCAACTGATTTC
GAAGGCTGGTTCTTCTGCACCACTTTCAGAAAGTTTATGTGGGTTATTCTTCAGCCGCTCTTTT
ATGCCTTTCGACCTCTGTTCATCAACCCCAAGCCAATTTCCTATCTGGAGATTATCAATACTGT
GATCCAGGTCACTTTTGACGTTGTGATTTACTACGTCTTGGGAATGAAATCTTTAGTCTACATG
CTGTCAGCATCCTTACTTGGTCTAGGTTTGCACCCAATTTCTGGACATTTTATAGCTGAACATT
ACATGTTCTTAAAAGGGCATGAAACTTACTCGTATTACGGGCCTCTGAACTTACTCACCTTCAA
CGTGGGCTACCACAACGAGCACCATGACTTCCCCAACATTCCCGGGAAAAACCTTCCCCTGGTG
AGGAAAATAGCAGCGGAGTACTATGACAACCTCCCCCACTATAATTCCTGGATAAAAGTACTGT
ATGATTTTGTGACGGATGATACAATAAGTCCTTATTCGAGAATGAAGAGGCATCAGAAAGGCAA
GGTGTTTCTGGAGTAAGCATCATTGTAGCCAAAGGACCTCCTCCCTGACACTTCACAATAGCTG
ATGAAGTGGAATCTTCCCATGATTAAATTAAGACCAGTGATGTATAGACGAGCCCCTCGTACAA
TGTTAAGTGTGATCTCCACAGTATCAAGAAGCTAATCTGACTTTCGGCAGCCAGCCTGGCTGCA
CCATTTCAGCTTTACTCACAGGAACCTTGTTGGTTCTGTCACCACTGTGGTGGGTTTTCTCACT
GATTTCTGACGTTTTGTAAGCATATCATAAAAAGGAGCTTTTAAAAAGCTATTTCTAGTTCATT
ATTTTCACTCTAAGGATTTACTTTATTAAAATGGCTAATAAACTGAGATATTAATCACAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001231050	(Get FASTA)	NCBI Sequence Viewer
	XP_005653825	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAV32451	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	XP_005653825 ⟸ XM_005653768
- Peptide Label:	isoform X1
- UniProtKB:	A0A286ZWK4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MKPDSNLIWIVILMVLSQLIAFYLVKDLDWKWVIFWAYAFGSCINHSMTLAIHEVSHNSAFGHC KPMWNRWFGVFANLPIGVPYSVSFKRYHMDHHRYLGSDGIDVDIPTDFEGWFFCTTFRKFMWVI LQPLFYAFRPLFINPKPISYLEIINTVIQVTFDVVIYYVLGMKSLVYMLSASLLGLGLHPISGH FIAEHYMFLKGHETYSYYGPLNLLTFNVGYHNEHHDFPNIPGKNLPLVRKIAAEYYDNLPHYNS WIKVLYDFVTDDTISPYSRMKRHQKGKVFLE hide sequence

RefSeq Acc Id:

NP_001231050 ⟸ NM_001244121

- UniProtKB:

I3LKA2 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MGNRVAREDFEWVYTDQPHASRRQEILAKYPEIKSLMKPDSNLIWIVILMVLSQLIAFYLVKDL
DWKWVIFWAYAFGSCINHSMTLAIHEVSHNSAFGHCKPMWNRWFGVFANLPIGVPYSVSFKRYH
MDHHRYLGSDGIDVDIPTDFEGWFFCTTFRKFMWVILQPLFYAFRPLFINPKPISYLEIINTVI
QVTFDVVIYYVLGMKSLVYMLSASLLGLGLHPISGHFIAEHYMFLKGHETYSYYGPLNLLTFNV
GYHNEHHDFPNIPGKNLPLVRKIAAEYYDNLPHYNSWIKVLYDFVTDDTISPYSRMKRHQKGKV
FLE

hide sequence

RefSeq Acc Id:

ENSSSCP00000024516 ⟸ ENSSSCT00000025010

Protein Domains

Lipid_DES

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSSSCG00000024484	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
	ENSSSCG00070009117	UniProtKB/TrEMBL
Ensembl Protein	ENSSSCP00000024516	ENTREZGENE, UniProtKB/TrEMBL
	ENSSSCP00070014667	UniProtKB/TrEMBL
Ensembl Transcript	ENSSSCT00000025010	ENTREZGENE, UniProtKB/TrEMBL
	ENSSSCT00070017687	UniProtKB/TrEMBL
InterPro	DES1	UniProtKB/TrEMBL
	DES1/DES2	UniProtKB/TrEMBL
	FA_desaturase_dom	UniProtKB/TrEMBL
	Sphingolipid_d4-desaturase_N	UniProtKB/TrEMBL
KEGG Report	ssc:100135677	UniProtKB/TrEMBL
NCBI Gene	DEGS1	ENTREZGENE
PANTHER	PTHR12879:SF2	UniProtKB/TrEMBL
Pfam	FA_desaturase	UniProtKB/TrEMBL
	Lipid_DES	UniProtKB/TrEMBL
PIRSF	Sphnglp_dlt4_des	UniProtKB/TrEMBL
SMART	Lipid_DES	UniProtKB/TrEMBL
UniProt	A0A286ZWK4	ENTREZGENE
	A0A4X1THG4_PIG	UniProtKB/TrEMBL
	I3LKA2	ENTREZGENE, UniProtKB/TrEMBL
VGNC ID	VGNC:95590	ENTREZGENE

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM