O15121 (DEGS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

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)

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.
Sequence processing	The displayed sequence is further processed into a mature form.
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 Lipid synthesis
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	sphingolipid metabolic process Traceable author statement. Source: Reactome unsaturated fatty acid biosynthetic process Traceable author statement. Source: ProtInc
Cellular component	endoplasmic reticulum membrane Traceable author statement. Source: Reactome integral to plasma membrane Traceable author statement. Source: ProtInc membrane fraction Traceable author statement. Source: ProtInc
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	Notes
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
	Initiator methionine	1	1	Removed
	Chain	2 – 323	322	Sphingolipid delta(4)-desaturase DES1		PRO_0000312727
Regions
	Transmembrane	41 – 61	21	Helical; Potential
	Transmembrane	68 – 88	21	Helical; Potential
	Transmembrane	102 – 122	21	Helical; Potential
	Transmembrane	152 – 172	21	Helical; Potential
	Transmembrane	184 – 204	21	Helical; Potential
	Transmembrane	209 – 229	21	Helical; Potential
Amino acid modifications
	Modified residue	307	1	Phosphoserine Ref.6
	Lipidation	2	1	N-myristoyl glycine Ref.7

Sequences

	Sequence		Length	Mass (Da)
	O15121 [UniParc]. Last modified January 1, 1998. Version 1. Checksum: 9FF2E4A0B87EA71C	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

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: 9188692] [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: 11937514] [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. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., 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: 15489334] [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: 18669648] [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: 19647031] [Abstract] Cited for: SUBCELLULAR LOCATION, MYRISTOYLATION AT GLY-2.

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_003676.2.
UniGene	Hs.299878.
3D structure databases
ProteinModelPortal	O15121.
ModBase	Search...
Protein-protein interaction databases
IntAct	O15121. 1 interaction.
STRING	O15121.
PTM databases
PhosphoSite	O15121.
Proteomic databases
PRIDE	O15121.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000323699; ENSP00000316476; ENSG00000143753. ENST00000391877; ENSP00000375749; ENSG00000143753.
GeneID	8560.
KEGG	hsa:8560.
UCSC	uc001hoi.1. human.
Organism-specific databases
CTD	8560.
GeneCards	GC01P224364.
H-InvDB	HIX0001626.
HGNC	HGNC:13709. DEGS1.
HPA	HPA014763.
neXtProt	NX_O15121.
PharmGKB	PA27250.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG07905.
GeneTree	ENSGT00390000013448.
HOGENOM	HBG324309.
HOVERGEN	HBG052775.
InParanoid	O15121.
OMA	HNSAFGH.
PhylomeDB	O15121.
Enzyme and pathway databases
Reactome	REACT_22258. Metabolism of lipids and lipoproteins.
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]
KO	K04712.
Pfam	PF00487. FA_desaturase. 1 hit. PF08557. Lipid_DES. 1 hit. [Graphical view]
PIRSF	PIRSF017228. Sphnglp_dlt4_des. 1 hit.
ProtoNet	Search...
Other
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:	January 25, 2012
This is version 91 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.