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O15121 (DEGS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 113. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length323 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed
Chain2 – 323322Sphingolipid delta(4)-desaturase DES1
PRO_0000312727

Regions

Transmembrane41 – 6121Helical; Potential
Transmembrane68 – 8821Helical; Potential
Transmembrane102 – 12221Helical; Potential
Transmembrane152 – 17221Helical; Potential
Transmembrane184 – 20421Helical; Potential
Transmembrane209 – 22921Helical; Potential

Amino acid modifications

Modified residue3071Phosphoserine Ref.6
Lipidation21N-myristoyl glycine Ref.7

Sequences

Sequence LengthMass (Da)Tools
O15121 [UniParc].

Last modified January 1, 1998. Version 1.
Checksum: 9FF2E4A0B87EA71C

FASTA32337,866
        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 

« Hide

References

« Hide '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] [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]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. expand/collapse author list , 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] [Europe PMC] [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] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

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.
CCDSCCDS1540.1.
RefSeqNP_003667.1. NM_003676.3.
UniGeneHs.299878.

3D structure databases

ProteinModelPortalO15121.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114130. 7 interactions.
IntActO15121. 1 interaction.
STRING9606.ENSP00000316476.

Chemistry

ChEMBLCHEMBL2021749.

PTM databases

PhosphoSiteO15121.

Proteomic databases

MaxQBO15121.
PaxDbO15121.
PRIDEO15121.

Protocols and materials databases

DNASU8560.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000323699; ENSP00000316476; ENSG00000143753.
ENST00000391877; ENSP00000375749; ENSG00000143753.
GeneID8560.
KEGGhsa:8560.
UCSCuc001hoj.3. human.

Organism-specific databases

CTD8560.
GeneCardsGC01P224364.
HGNCHGNC:13709. DEGS1.
HPAHPA014763.
neXtProtNX_O15121.
PharmGKBPA27250.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG321008.
HOGENOMHOG000188299.
HOVERGENHBG052775.
InParanoidO15121.
KOK04712.
OMAHNSAFGH.
PhylomeDBO15121.
TreeFamTF313582.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.

Gene expression databases

ArrayExpressO15121.
BgeeO15121.
CleanExHS_DEGS1.
GenevestigatorO15121.

Family and domain databases

InterProIPR005804. Fatty_acid_desaturase-1.
IPR011388. Sphingolipid_d4-desaturase.
IPR013866. Sphingolipid_d4-desaturase_N.
[Graphical view]
PfamPF00487. FA_desaturase. 1 hit.
PF08557. Lipid_DES. 1 hit.
[Graphical view]
PIRSFPIRSF017228. Sphnglp_dlt4_des. 1 hit.
ProtoNetSearch...

Other

ChiTaRSDEGS1. human.
GenomeRNAi8560.
NextBio32089.
PROO15121.

Entry information

Entry nameDEGS1_HUMAN
AccessionPrimary (citable) accession number: O15121
Entry history
Integrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: January 1, 1998
Last modified: July 9, 2014
This is version 113 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM