Sphingolipid delta(4)-desaturase DES1

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O15121 (DEGS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 3, 2013. Version 102. History...

Clusters with 100%, 90%, 50% identity |

Documents (2) |

Third-party data

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Names·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents Customize order

Names and origin

Protein names

Recommended name:
Sphingolipid delta(4)-desaturase DES1
EC=1.14.-.-

Alternative name(s):
Cell migration-inducing gene 15 protein
Degenerative spermatocyte homolog 1
Membrane lipid desaturase

Gene names

Name:	DEGS1
Synonyms:	DES1, MLD
ORF Names:	MIG15

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	323 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Has sphingolipid-delta-4-desaturase activity. Converts D-erythro-sphinganine to D-erythro-sphingosine (E-sphing-4-enine). Ref.2
Subcellular location	Mitochondrion. Endoplasmic reticulum membrane; Multi-pass membrane protein Ref.1 Ref.7.
Tissue specificity	Ubiquitous. Ref.1
Post-translational modification	Myristoylation can target the enzyme to the mitochondria leading to an increase in ceramide levels.
Sequence similarities	Belongs to the fatty acid desaturase family. DEGS subfamily.

Ontologies

Keywords
Biological process	Fatty acid biosynthesis Fatty acid metabolism Lipid biosynthesis Lipid metabolism
Cellular component	Endoplasmic reticulum Membrane Mitochondrion
Domain	Transmembrane Transmembrane helix
Molecular function	Oxidoreductase
PTM	Lipoprotein Myristate Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	phospholipid metabolic process Traceable author statement. Source: Reactome sphingolipid biosynthetic process Traceable author statement. Source: Reactome unsaturated fatty acid biosynthetic process Traceable author statement Ref.1. Source: ProtInc
Cellular_component	endoplasmic reticulum membrane Traceable author statement. Source: Reactome integral to plasma membrane Traceable author statement Ref.1. Source: ProtInc mitochondrion Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	electron carrier activity Traceable author statement Ref.1. Source: UniProtKB oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct
PYGM	P11217	1	EBI-1052713,EBI-357469
SLC16A1	P53985	1	EBI-1052713,EBI-1054708
SURF4	O15260	1	EBI-1052713,EBI-1044848
TSSC1	Q53HC9	1	EBI-1052713,EBI-1055422

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 323

323

Sphingolipid delta(4)-desaturase DES1

PRO_0000312727

Regions

Transmembrane

41 – 61

Helical; Potential

Transmembrane

68 – 88

Helical; Potential

Transmembrane

102 – 122

Helical; Potential

Transmembrane

152 – 172

Helical; Potential

Transmembrane

184 – 204

Helical; Potential

Transmembrane

209 – 229

Helical; Potential

Amino acid modifications

Modified residue

307

Phosphoserine Ref.6

Lipidation

N-myristoyl glycine Ref.7

Sequences

Sequence

Length

Mass (Da)

Tools

O15121 [UniParc].

Last modified January 1, 1998. Version 1.
Checksum: 9FF2E4A0B87EA71C
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FASTA

323

37,866

        10         20         30         40         50         60 
MGSRVSREDF EWVYTDQPHA DRRREILAKY PEIKSLMKPD PNLIWIIIMM VLTQLGAFYI 

        70         80         90        100        110        120 
VKDLDWKWVI FGAYAFGSCI NHSMTLAIHE IAHNAAFGNC KAMWNRWFGM FANLPIGIPY 

       130        140        150        160        170        180 
SISFKRYHMD HHRYLGADGV DVDIPTDFEG WFFCTAFRKF IWVILQPLFY AFRPLFINPK 

       190        200        210        220        230        240 
PITYLEVINT VAQVTFDILI YYFLGIKSLV YMLAASLLGL GLHPISGHFI AEHYMFLKGH 

       250        260        270        280        290        300 
ETYSYYGPLN LLTFNVGYHN EHHDFPNIPG KSLPLVRKIA AEYYDNLPHY NSWIKVLYDF 

       310        320 
VMDDTISPYS RMKRHQKGEM VLE

« Hide

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The product of the MLD gene is a member of the membrane fatty acid desaturase family: overexpression of MLD inhibits EGF receptor biosynthesis." Cadena D.L., Kurten R.C., Gill G.N. Biochemistry 36:6960-6967(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, TISSUE SPECIFICITY. Tissue: Cervix carcinoma.
[2]	"Identification and characterization of a sphingolipid delta 4-desaturase family." Ternes P., Franke S., Zaehringer U., Sperling P., Heinz E. J. Biol. Chem. 277:25512-25518(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION. Tissue: Lung.
[3]	"Identification of a human migration-inducing gene." Kim J.W. Submitted (SEP-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Placenta.
[6]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-307, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[7]	"N-Myristoylation targets dihydroceramide Delta4-desaturase 1 to mitochondria: partial involvement in the apoptotic effect of myristic acid." Beauchamp E., Tekpli X., Marteil G., Lagadic-Gossmann D., Legrand P., Rioux V. Biochimie 91:1411-1419(2009) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, MYRISTOYLATION AT GLY-2.
[8]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF002668 mRNA. Translation: AAB62238.1. AF466375 mRNA. Translation: AAM12531.1. AY423730 mRNA. Translation: AAS00493.1. CH471098 Genomic DNA. Translation: EAW69711.1. BC000961 mRNA. Translation: AAH00961.1.
IPI	IPI00021147.
RefSeq	NP_003667.1. NM_003676.3.
UniGene	Hs.299878.
3D structure databases
ProteinModelPortal	O15121.
ModBase	Search...
Protein-protein interaction databases
IntAct	O15121. 1 interaction.
STRING	9606.ENSP00000316476.
PTM databases
PhosphoSite	O15121.
Proteomic databases
PaxDb	O15121.
PRIDE	O15121.
Protocols and materials databases
DNASU	8560.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000323699; ENSP00000316476; ENSG00000143753. ENST00000391877; ENSP00000375749; ENSG00000143753.
GeneID	8560.
KEGG	hsa:8560.
UCSC	uc001hoj.3. human.
Organism-specific databases
CTD	8560.
GeneCards	GC01P224364.
HGNC	HGNC:13709. DEGS1.
HPA	HPA014763.
neXtProt	NX_O15121.
PharmGKB	PA27250.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG321008.
HOGENOM	HOG000188299.
HOVERGEN	HBG052775.
InParanoid	O15121.
KO	K04712.
OMA	HNSAFGH.
PhylomeDB	O15121.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism.
Gene expression databases
ArrayExpress	O15121.
Bgee	O15121.
CleanEx	HS_DEGS1.
Genevestigator	O15121.
Family and domain databases
InterPro	IPR005804. Fatty_acid_desaturase-1. IPR011388. Sphingolipid_d4-desaturase. IPR013866. Sphingolipid_d4-desaturase_N. [Graphical view]
Pfam	PF00487. FA_desaturase. 1 hit. PF08557. Lipid_DES. 1 hit. [Graphical view]
PIRSF	PIRSF017228. Sphnglp_dlt4_des. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	DEGS1. human.
GenomeRNAi	8560.
NextBio	32089.

Entry information

Entry name

DEGS1_HUMAN

Accession

Primary (citable) accession number: O15121

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 4, 2007
Last sequence update:	January 1, 1998
Last modified:	April 3, 2013
This is version 102 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM

SIMILARITY comments

Index of protein domains and families

Names·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents

Preferred order of sections

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Sequence annotation (Features)

Molecule processing

Regions

Amino acid modifications

Sequences

References

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other

Entry information

Relevant documents