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Protein

Sphingolipid delta(4)-desaturase DES1

Gene

DEGS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Has sphingolipid-delta-4-desaturase activity. Converts D-erythro-sphinganine to D-erythro-sphingosine (E-sphing-4-enine).1 Publication

Catalytic activityi

A dihydroceramide + 2 ferrocytochrome b5 + O2 + 2 H+ = a (4E)-sphing-4-enine ceramide + 2 ferricytochrome b5 + 2 H2O.1 Publication

GO - Molecular functioni

  • electron transfer activity Source: UniProtKB
  • sphingolipid delta-4 desaturase activity Source: GO_Central

GO - Biological processi

Keywordsi

Molecular functionOxidoreductase
Biological processFatty acid biosynthesis, Fatty acid metabolism, Lipid biosynthesis, Lipid metabolism

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000143753-MONOMER
ReactomeiR-HSA-1660661 Sphingolipid de novo biosynthesis
R-HSA-6798695 Neutrophil degranulation

Chemistry databases

SwissLipidsiSLP:000000166

Names & Taxonomyi

Protein namesi
Recommended name:
Sphingolipid delta(4)-desaturase DES1 (EC:1.14.19.171 Publication)
Alternative name(s):
Cell migration-inducing gene 15 protein
Degenerative spermatocyte homolog 1
Membrane lipid desaturase
Gene namesi
Name:DEGS1
Synonyms:DES1, MLD
ORF Names:MIG15
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000143753.12
HGNCiHGNC:13709 DEGS1
MIMi615843 gene
neXtProtiNX_O15121

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei41 – 61HelicalSequence analysisAdd BLAST21
Transmembranei68 – 88HelicalSequence analysisAdd BLAST21
Transmembranei102 – 122HelicalSequence analysisAdd BLAST21
Transmembranei152 – 172HelicalSequence analysisAdd BLAST21
Transmembranei184 – 204HelicalSequence analysisAdd BLAST21
Transmembranei209 – 229HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Mitochondrion

Pathology & Biotechi

Organism-specific databases

DisGeNETi8560
OpenTargetsiENSG00000143753
PharmGKBiPA27250

Chemistry databases

ChEMBLiCHEMBL2021749
GuidetoPHARMACOLOGYi2484

Polymorphism and mutation databases

BioMutaiDEGS1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00003127272 – 323Sphingolipid delta(4)-desaturase DES1Add BLAST322

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi2N-myristoyl glycine2 Publications1
Modified residuei307PhosphoserineCombined sources1

Post-translational modificationi

Myristoylation can target the enzyme to the mitochondria leading to an increase in ceramide levels.1 Publication

Keywords - PTMi

Lipoprotein, Myristate, Phosphoprotein

Proteomic databases

EPDiO15121
MaxQBiO15121
PaxDbiO15121
PeptideAtlasiO15121
PRIDEiO15121

PTM databases

iPTMnetiO15121
PhosphoSitePlusiO15121
SwissPalmiO15121

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000143753
CleanExiHS_DEGS1
ExpressionAtlasiO15121 baseline and differential
GenevisibleiO15121 HS

Organism-specific databases

HPAiHPA076422

Interactioni

Protein-protein interaction databases

BioGridi11413037 interactors.
IntActiO15121 15 interactors.
STRINGi9606.ENSP00000316476

Chemistry databases

BindingDBiO15121

Structurei

3D structure databases

ProteinModelPortaliO15121
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi89 – 93Histidine box-1Curated5
Motifi128 – 132Histidine box-2Curated5
Motifi259 – 263Histidine box-3Curated5

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2987 Eukaryota
ENOG410XQVT LUCA
GeneTreeiENSGT00390000013448
HOGENOMiHOG000188299
HOVERGENiHBG052775
InParanoidiO15121
KOiK04712
OMAiQIFFYAL
OrthoDBiEOG091G09NW
PhylomeDBiO15121
TreeFamiTF313582

Family and domain databases

CDDicd03508 Delta4-sphingolipid-FADS-like, 1 hit
InterProiView protein in InterPro
IPR011388 DES1/DES2
IPR005804 FA_desaturase_dom
IPR013866 Sphingolipid_d4-desaturase_N
PfamiView protein in Pfam
PF00487 FA_desaturase, 1 hit
PF08557 Lipid_DES, 1 hit
PIRSFiPIRSF017228 Sphnglp_dlt4_des, 1 hit
SMARTiView protein in SMART
SM01269 Lipid_DES, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

O15121-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGSRVSREDF EWVYTDQPHA DRRREILAKY PEIKSLMKPD PNLIWIIIMM
60 70 80 90 100
VLTQLGAFYI VKDLDWKWVI FGAYAFGSCI NHSMTLAIHE IAHNAAFGNC
110 120 130 140 150
KAMWNRWFGM FANLPIGIPY SISFKRYHMD HHRYLGADGV DVDIPTDFEG
160 170 180 190 200
WFFCTAFRKF IWVILQPLFY AFRPLFINPK PITYLEVINT VAQVTFDILI
210 220 230 240 250
YYFLGIKSLV YMLAASLLGL GLHPISGHFI AEHYMFLKGH ETYSYYGPLN
260 270 280 290 300
LLTFNVGYHN EHHDFPNIPG KSLPLVRKIA AEYYDNLPHY NSWIKVLYDF
310 320
VMDDTISPYS RMKRHQKGEM VLE
Length:323
Mass (Da):37,866
Last modified:January 1, 1998 - v1
Checksum:i9FF2E4A0B87EA71C
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS1540.1
RefSeqiNP_003667.1, NM_003676.3
UniGeneiHs.299878

Genome annotation databases

EnsembliENST00000323699; ENSP00000316476; ENSG00000143753
ENST00000391877; ENSP00000375749; ENSG00000143753
GeneIDi8560
KEGGihsa:8560
UCSCiuc001hoj.4 human

Similar proteinsi

Entry informationi

Entry nameiDEGS1_HUMAN
AccessioniPrimary (citable) accession number: O15121
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: January 1, 1998
Last modified: March 28, 2018
This is version 147 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome