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Protein

Sphingolipid delta(4)-desaturase/C4-monooxygenase DES2

Gene

DEGS2

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

Functioni

Bifunctional enzyme which acts as both a sphingolipid delta4-desaturase and a sphingolipid C4-monooxygenase.1 Publication

Catalytic activityi

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

Pathwayi: sphingolipid biosynthesis

This protein is involved in the pathway sphingolipid biosynthesis, which is part of Membrane lipid metabolism.
View all proteins of this organism that are known to be involved in the pathway sphingolipid biosynthesis and in Membrane lipid metabolism.

GO - Molecular functioni

  • sphingolipid delta-4 desaturase activity Source: GO_Central
  • sphingosine hydroxylase activity Source: GO_Central

GO - Biological processi

Keywordsi

Molecular functionOxidoreductase
Biological processLipid biosynthesis, Lipid metabolism

Enzyme and pathway databases

BioCyciMetaCyc:HS15665-MONOMER
BRENDAi1.14.13.169 2681
ReactomeiR-HSA-1660661 Sphingolipid de novo biosynthesis
UniPathwayi
UPA00786

Chemistry databases

SwissLipidsiSLP:000000170

Names & Taxonomyi

Protein namesi
Recommended name:
Sphingolipid delta(4)-desaturase/C4-monooxygenase DES2 (EC:1.14.18.51 Publication, EC:1.14.19.171 Publication)
Alternative name(s):
Degenerative spermatocyte homolog 2
Sphingolipid 4-desaturase
Sphingolipid C4-monooxygenase
Gene namesi
Name:DEGS2Imported
Synonyms:C14orf66
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000168350.7
HGNCiHGNC:20113 DEGS2
MIMi610862 gene
neXtProtiNX_Q6QHC5

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
Transmembranei45 – 65HelicalSequence analysisAdd BLAST21
Transmembranei68 – 88HelicalSequence analysisAdd BLAST21
Transmembranei210 – 231HelicalSequence analysisAdd BLAST22

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi123099
OpenTargetsiENSG00000168350
PharmGKBiPA134973300

Polymorphism and mutation databases

BioMutaiDEGS2
DMDMi269849561

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedBy similarity
ChainiPRO_00003128162 – 323Sphingolipid delta(4)-desaturase/C4-monooxygenase DES2By similarityAdd BLAST322

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi2N-myristoyl glycineBy similarity1

Keywords - PTMi

Lipoprotein, Myristate

Proteomic databases

PaxDbiQ6QHC5
PeptideAtlasiQ6QHC5
PRIDEiQ6QHC5
ProteomicsDBi67288

PTM databases

iPTMnetiQ6QHC5
PhosphoSitePlusiQ6QHC5

Expressioni

Tissue specificityi

Highly expressed in skin, intestine and kidney.1 Publication

Inductioni

Up-regulated during keratinocyte differentiation. Not expressed at day 0 or day 3 after differentiation, detected on day 6 and increases by day 9.1 Publication

Gene expression databases

BgeeiENSG00000168350 Expressed in 164 organ(s), highest expression level in skin of leg
CleanExiHS_DEGS2
ExpressionAtlasiQ6QHC5 baseline and differential
GenevisibleiQ6QHC5 HS

Organism-specific databases

HPAiHPA046644

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000307126

Structurei

3D structure databases

ProteinModelPortaliQ6QHC5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni95 – 99Required for C4-hydroxylase activityBy similarity5

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
InParanoidiQ6QHC5
KOiK04712
OMAiPQHHSWV
OrthoDBiEOG091G09NW
PhylomeDBiQ6QHC5
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

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q6QHC5-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGNSASRSDF EWVYTDQPHT QRRKEILAKY PAIKALMRPD PRLKWAVLVL
60 70 80 90 100
VLVQMLACWL VRGLAWRWLL FWAYAFGGCV NHSLTLAIHD ISHNAAFGTG
110 120 130 140 150
RAARNRWLAV FANLPVGVPY AASFKKYHVD HHRYLGGDGL DVDVPTRLEG
160 170 180 190 200
WFFCTPARKL LWLVLQPFFY SLRPLCVHPK AVTRMEVLNT LVQLAADLAI
210 220 230 240 250
FALWGLKPVV YLLASSFLGL GLHPISGHFV AEHYMFLKGH ETYSYYGPLN
260 270 280 290 300
WITFNVGYHV EHHDFPSIPG YNLPLVRKIA PEYYDHLPQH HSWVKVLWDF
310 320
VFEDSLGPYA RVKRVYRLAK DGL
Length:323
Mass (Da):37,197
Last modified:November 24, 2009 - v2
Checksum:i4726A4EBD357EB0F
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V2F9G3V2F9_HUMAN
Sphingolipid delta(4)-desaturase/C4...
DEGS2
54Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0603478S → N2 PublicationsCorresponds to variant dbSNP:rs7157599Ensembl.1
Natural variantiVAR_05569857A → T1 PublicationCorresponds to variant dbSNP:rs4905937Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY541700 mRNA Translation: AAS68362.1
AL133523 Genomic DNA No translation available.
CH471061 Genomic DNA Translation: EAW81688.1
BC063598 mRNA Translation: AAH63598.1
CCDSiCCDS9956.1
RefSeqiNP_996801.2, NM_206918.2
UniGeneiHs.159643

Genome annotation databases

EnsembliENST00000305631; ENSP00000307126; ENSG00000168350
GeneIDi123099
KEGGihsa:123099
UCSCiuc001ygx.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY541700 mRNA Translation: AAS68362.1
AL133523 Genomic DNA No translation available.
CH471061 Genomic DNA Translation: EAW81688.1
BC063598 mRNA Translation: AAH63598.1
CCDSiCCDS9956.1
RefSeqiNP_996801.2, NM_206918.2
UniGeneiHs.159643

3D structure databases

ProteinModelPortaliQ6QHC5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000307126

Chemistry databases

SwissLipidsiSLP:000000170

PTM databases

iPTMnetiQ6QHC5
PhosphoSitePlusiQ6QHC5

Polymorphism and mutation databases

BioMutaiDEGS2
DMDMi269849561

Proteomic databases

PaxDbiQ6QHC5
PeptideAtlasiQ6QHC5
PRIDEiQ6QHC5
ProteomicsDBi67288

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000305631; ENSP00000307126; ENSG00000168350
GeneIDi123099
KEGGihsa:123099
UCSCiuc001ygx.3 human

Organism-specific databases

CTDi123099
DisGeNETi123099
EuPathDBiHostDB:ENSG00000168350.7
GeneCardsiDEGS2
H-InvDBiHIX0037711
HGNCiHGNC:20113 DEGS2
HPAiHPA046644
MIMi610862 gene
neXtProtiNX_Q6QHC5
OpenTargetsiENSG00000168350
PharmGKBiPA134973300
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2987 Eukaryota
ENOG410XQVT LUCA
GeneTreeiENSGT00390000013448
HOGENOMiHOG000188299
HOVERGENiHBG052775
InParanoidiQ6QHC5
KOiK04712
OMAiPQHHSWV
OrthoDBiEOG091G09NW
PhylomeDBiQ6QHC5
TreeFamiTF313582

Enzyme and pathway databases

UniPathwayi
UPA00786

BioCyciMetaCyc:HS15665-MONOMER
BRENDAi1.14.13.169 2681
ReactomeiR-HSA-1660661 Sphingolipid de novo biosynthesis

Miscellaneous databases

GenomeRNAii123099
PROiPR:Q6QHC5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000168350 Expressed in 164 organ(s), highest expression level in skin of leg
CleanExiHS_DEGS2
ExpressionAtlasiQ6QHC5 baseline and differential
GenevisibleiQ6QHC5 HS

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
ProtoNetiSearch...

Entry informationi

Entry nameiDEGS2_HUMAN
AccessioniPrimary (citable) accession number: Q6QHC5
Secondary accession number(s): Q6P492
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: November 24, 2009
Last modified: September 12, 2018
This is version 112 of the entry and version 2 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

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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