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O15121

- DEGS1_HUMAN

UniProt

O15121 - DEGS1_HUMAN

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Protein
Sphingolipid delta(4)-desaturase DES1
Gene
DEGS1, DES1, MLD, MIG15
Organism
Homo sapiens (Human)
Status
Reviewed - 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: Chromosome 1

Organism-specific databases

HGNCiHGNC:13709. DEGS1.

Subcellular locationi

Mitochondrion. Endoplasmic reticulum membrane; Multi-pass membrane protein 2 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei41 – 6121Helical; Reviewed prediction
Add
BLAST
Transmembranei68 – 8821Helical; Reviewed prediction
Add
BLAST
Transmembranei102 – 12221Helical; Reviewed prediction
Add
BLAST
Transmembranei152 – 17221Helical; Reviewed prediction
Add
BLAST
Transmembranei184 – 20421Helical; Reviewed prediction
Add
BLAST
Transmembranei209 – 22921Helical; Reviewed prediction
Add
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 DES1
PRO_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.

Keywords - PTMi

Lipoprotein, Myristate, Phosphoprotein

Proteomic databases

MaxQBiO15121.
PaxDbiO15121.
PRIDEiO15121.

PTM databases

PhosphoSiteiO15121.

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

ArrayExpressiO15121.
BgeeiO15121.
CleanExiHS_DEGS1.
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. 7 interactions.
IntActiO15121. 1 interaction.
STRINGi9606.ENSP00000316476.

Structurei

3D structure databases

ProteinModelPortaliO15121.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG321008.
HOGENOMiHOG000188299.
HOVERGENiHBG052775.
InParanoidiO15121.
KOiK04712.
OMAiHNSAFGH.
PhylomeDBiO15121.
TreeFamiTF313582.

Family and domain databases

InterProiIPR005804. Fatty_acid_desaturase-1.
IPR011388. Sphingolipid_d4-desaturase.
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

MGSRVSREDF EWVYTDQPHA DRRREILAKY PEIKSLMKPD PNLIWIIIMM    50
VLTQLGAFYI VKDLDWKWVI FGAYAFGSCI NHSMTLAIHE IAHNAAFGNC 100
KAMWNRWFGM FANLPIGIPY SISFKRYHMD HHRYLGADGV DVDIPTDFEG 150
WFFCTAFRKF IWVILQPLFY AFRPLFINPK PITYLEVINT VAQVTFDILI 200
YYFLGIKSLV YMLAASLLGL GLHPISGHFI AEHYMFLKGH ETYSYYGPLN 250
LLTFNVGYHN EHHDFPNIPG KSLPLVRKIA AEYYDNLPHY NSWIKVLYDF 300
VMDDTISPYS RMKRHQKGEM VLE 323
Length:323
Mass (Da):37,866
Last modified:January 1, 1998 - v1
Checksum:i9FF2E4A0B87EA71C
GO

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS1540.1.
RefSeqi NP_003667.1. NM_003676.3.
UniGenei Hs.299878.

3D structure databases

ProteinModelPortali O15121.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114130. 7 interactions.
IntActi O15121. 1 interaction.
STRINGi 9606.ENSP00000316476.

Chemistry

ChEMBLi CHEMBL2021749.

PTM databases

PhosphoSitei O15121.

Proteomic databases

MaxQBi O15121.
PaxDbi O15121.
PRIDEi O15121.

Protocols and materials databases

DNASUi 8560.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000323699 ; ENSP00000316476 ; ENSG00000143753 .
ENST00000391877 ; ENSP00000375749 ; ENSG00000143753 .
GeneIDi 8560.
KEGGi hsa:8560.
UCSCi uc001hoj.3. human.

Organism-specific databases

CTDi 8560.
GeneCardsi GC01P224364.
HGNCi HGNC:13709. DEGS1.
HPAi HPA014763.
neXtProti NX_O15121.
PharmGKBi PA27250.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG321008.
HOGENOMi HOG000188299.
HOVERGENi HBG052775.
InParanoidi O15121.
KOi K04712.
OMAi HNSAFGH.
PhylomeDBi O15121.
TreeFami TF313582.

Enzyme and pathway databases

Reactomei REACT_115810. Sphingolipid de novo biosynthesis.

Miscellaneous databases

ChiTaRSi DEGS1. human.
GenomeRNAii 8560.
NextBioi 32089.
PROi O15121.

Gene expression databases

ArrayExpressi O15121.
Bgeei O15121.
CleanExi HS_DEGS1.
Genevestigatori O15121.

Family and domain databases

InterProi IPR005804. Fatty_acid_desaturase-1.
IPR011388. Sphingolipid_d4-desaturase.
IPR013866. Sphingolipid_d4-desaturase_N.
[Graphical view ]
Pfami PF00487. FA_desaturase. 1 hit.
PF08557. Lipid_DES. 1 hit.
[Graphical view ]
PIRSFi PIRSF017228. Sphnglp_dlt4_des. 1 hit.
ProtoNeti Search...

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(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. 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. 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(2009) [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 4, 2007
Last sequence update: January 1, 1998
Last modified: September 3, 2014
This is version 114 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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