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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

GO - Molecular functioni

  1. electron carrier activity Source: UniProtKB
  2. oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen Source: InterPro

GO - Biological processi

  1. small molecule metabolic process Source: Reactome
  2. sphingolipid biosynthetic process Source: Reactome
  3. sphingolipid metabolic process Source: Reactome
  4. unsaturated fatty acid biosynthetic process Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

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

Enzyme and pathway databases

ReactomeiREACT_115810. Sphingolipid de novo biosynthesis.

Names & Taxonomyi

Protein namesi
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 namesi
Name:DEGS1
Synonyms:DES1, MLD
ORF Names:MIG15
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:13709. DEGS1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei41 – 6121HelicalSequence AnalysisAdd
BLAST
Transmembranei68 – 8821HelicalSequence AnalysisAdd
BLAST
Transmembranei102 – 12221HelicalSequence AnalysisAdd
BLAST
Transmembranei152 – 17221HelicalSequence AnalysisAdd
BLAST
Transmembranei184 – 20421HelicalSequence AnalysisAdd
BLAST
Transmembranei209 – 22921HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum Source: ProtInc
  2. endoplasmic reticulum membrane Source: Reactome
  3. integral component of plasma membrane Source: ProtInc
  4. membrane Source: ProtInc
  5. mitochondrion Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27250.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed
Chaini2 – 323322Sphingolipid delta(4)-desaturase DES1PRO_0000312727Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Lipidationi2 – 21N-myristoyl glycine1 Publication
Modified residuei307 – 3071Phosphoserine1 Publication

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

MaxQBiO15121.
PaxDbiO15121.
PRIDEiO15121.

PTM databases

PhosphoSiteiO15121.

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiO15121.
CleanExiHS_DEGS1.
ExpressionAtlasiO15121. baseline and differential.
GenevestigatoriO15121.

Organism-specific databases

HPAiHPA014763.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
PYGMP112171EBI-1052713,EBI-357469
SLC16A1P539851EBI-1052713,EBI-1054708
SURF4O152601EBI-1052713,EBI-1044848
TSSC1Q53HC91EBI-1052713,EBI-1055422

Protein-protein interaction databases

BioGridi114130. 22 interactions.
IntActiO15121. 1 interaction.
STRINGi9606.ENSP00000316476.

Structurei

3D structure databases

ProteinModelPortaliO15121.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG321008.
GeneTreeiENSGT00390000013448.
HOGENOMiHOG000188299.
HOVERGENiHBG052775.
InParanoidiO15121.
KOiK04712.
OMAiKALMKPD.
PhylomeDBiO15121.
TreeFamiTF313582.

Family and domain databases

InterProiIPR011388. DES1.
IPR005804. Fatty_acid_desaturase-1.
IPR013866. Sphingolipid_d4-desaturase_N.
[Graphical view]
PfamiPF00487. FA_desaturase. 1 hit.
PF08557. Lipid_DES. 1 hit.
[Graphical view]
PIRSFiPIRSF017228. Sphnglp_dlt4_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:December 31, 1997 - 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.3. 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. 22 interactions.
IntActiO15121. 1 interaction.
STRINGi9606.ENSP00000316476.

Chemistry

BindingDBiO15121.
ChEMBLiCHEMBL2021749.

PTM databases

PhosphoSiteiO15121.

Proteomic databases

MaxQBiO15121.
PaxDbiO15121.
PRIDEiO15121.

Protocols and materials databases

DNASUi8560.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000323699; ENSP00000316476; ENSG00000143753.
ENST00000391877; ENSP00000375749; ENSG00000143753.
GeneIDi8560.
KEGGihsa:8560.
UCSCiuc001hoj.3. human.

Organism-specific databases

CTDi8560.
GeneCardsiGC01P224364.
HGNCiHGNC:13709. DEGS1.
HPAiHPA014763.
MIMi615843. gene.
neXtProtiNX_O15121.
PharmGKBiPA27250.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG321008.
GeneTreeiENSGT00390000013448.
HOGENOMiHOG000188299.
HOVERGENiHBG052775.
InParanoidiO15121.
KOiK04712.
OMAiKALMKPD.
PhylomeDBiO15121.
TreeFamiTF313582.

Enzyme and pathway databases

ReactomeiREACT_115810. Sphingolipid de novo biosynthesis.

Miscellaneous databases

ChiTaRSiDEGS1. human.
GenomeRNAii8560.
NextBioi32089.
PROiO15121.
SOURCEiSearch...

Gene expression databases

BgeeiO15121.
CleanExiHS_DEGS1.
ExpressionAtlasiO15121. baseline and differential.
GenevestigatoriO15121.

Family and domain databases

InterProiIPR011388. DES1.
IPR005804. Fatty_acid_desaturase-1.
IPR013866. Sphingolipid_d4-desaturase_N.
[Graphical view]
PfamiPF00487. FA_desaturase. 1 hit.
PF08557. Lipid_DES. 1 hit.
[Graphical view]
PIRSFiPIRSF017228. Sphnglp_dlt4_des. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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(1996) [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(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION.
    Tissue: Lung.
  3. "Identification of a human migration-inducing gene."
    Kim J.W.
    Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  4. 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(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Placenta.
  6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-307, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    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(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, MYRISTOYLATION AT GLY-2.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiDEGS1_HUMAN
AccessioniPrimary (citable) accession number: O15121
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 3, 2007
Last sequence update: December 31, 1997
Last modified: March 31, 2015
This is version 120 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

External Data

Dasty 3

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 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.