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Protein

Sphingolipid delta(4)-desaturase DES1

Gene

DEGS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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 carrier activity Source: UniProtKB
  • sphingolipid delta-4 desaturase activity Source: GO_Central

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Fatty acid biosynthesis, Fatty acid metabolism, Lipid biosynthesis, Lipid metabolism

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000143753-MONOMER.
ZFISH: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

HGNCiHGNC:13709. DEGS1.

Subcellular locationi

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

GO - Cellular componenti

  • endoplasmic reticulum Source: ProtInc
  • endoplasmic reticulum membrane Source: Reactome
  • integral component of plasma membrane Source: ProtInc
  • membrane Source: ProtInc
  • mitochondrion Source: UniProtKB-SubCell
Complete GO annotation...

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

HPAiHPA014763.

Interactioni

Protein-protein interaction databases

BioGridi114130. 28 interactors.
IntActiO15121. 2 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.
OMAiEFYETMP.
OrthoDBiEOG091G09NW.
PhylomeDBiO15121.
TreeFamiTF313582.

Family and domain databases

InterProiIPR031196. DES1.
IPR011388. DES1/DES2.
IPR005804. FA_desaturase_dom.
IPR013866. Sphingolipid_d4-desaturase_N.
[Graphical view]
PANTHERiPTHR12879:SF2. PTHR12879:SF2. 1 hit.
PfamiPF00487. FA_desaturase. 1 hit.
PF08557. Lipid_DES. 1 hit.
[Graphical view]
PIRSFiPIRSF017228. Sphnglp_dlt4_des. 1 hit.
SMARTiSM01269. Lipid_DES. 1 hit.
[Graphical view]

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.

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliO15121.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114130. 28 interactors.
IntActiO15121. 2 interactors.
STRINGi9606.ENSP00000316476.

Chemistry databases

BindingDBiO15121.
ChEMBLiCHEMBL2021749.
GuidetoPHARMACOLOGYi2484.
SwissLipidsiSLP:000000166.

PTM databases

iPTMnetiO15121.
PhosphoSitePlusiO15121.
SwissPalmiO15121.

Polymorphism and mutation databases

BioMutaiDEGS1.

Proteomic databases

EPDiO15121.
MaxQBiO15121.
PaxDbiO15121.
PeptideAtlasiO15121.
PRIDEiO15121.

Protocols and materials databases

DNASUi8560.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi8560.
DisGeNETi8560.
GeneCardsiDEGS1.
HGNCiHGNC:13709. DEGS1.
HPAiHPA014763.
MIMi615843. gene.
neXtProtiNX_O15121.
OpenTargetsiENSG00000143753.
PharmGKBiPA27250.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiDEGS1. human.
GenomeRNAii8560.
PROiO15121.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000143753.
CleanExiHS_DEGS1.
ExpressionAtlasiO15121. baseline and differential.
GenevisibleiO15121. HS.

Family and domain databases

InterProiIPR031196. DES1.
IPR011388. DES1/DES2.
IPR005804. FA_desaturase_dom.
IPR013866. Sphingolipid_d4-desaturase_N.
[Graphical view]
PANTHERiPTHR12879:SF2. PTHR12879:SF2. 1 hit.
PfamiPF00487. FA_desaturase. 1 hit.
PF08557. Lipid_DES. 1 hit.
[Graphical view]
PIRSFiPIRSF017228. Sphnglp_dlt4_des. 1 hit.
SMARTiSM01269. Lipid_DES. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDEGS1_HUMAN
AccessioniPrimary (citable) accession number: O15121
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: January 1, 1998
Last modified: November 30, 2016
This is version 139 of the entry and version 1 of the sequence. [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

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.