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Q6QHC5 (DEGS2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 84. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Sphingolipid delta(4)-desaturase/C4-hydroxylase DES2

EC=1.-.-.-
EC=1.14.-.-
Alternative name(s):
Degenerative spermatocyte homolog 2
Gene names
Name:DEGS2
Synonyms:C14orf66
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 transcript level

General annotation (Comments)

Function

Bifunctional enzyme which acts as both a sphingolipid delta(4)-desaturase and a sphingolipid C4-hydroxylase By similarity. UniProtKB Q8R2F2

Pathway

Membrane lipid metabolism; sphingolipid biosynthesis.

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein By similarity UniProtKB Q8R2F2.

Tissue specificity

Highly expressed in skin, intestine and kidney. Ref.1

Induction

Up-regulated during keratinocyte differentiation. Not expressed at day 0 or day 3 after differentiation, detected on day 6 and increases by day 9. Ref.1

Sequence similarities

Belongs to the fatty acid desaturase family. DEGS subfamily.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed By similarity UniProtKB Q564G3
Chain2 – 323322Sphingolipid delta(4)-desaturase/C4-hydroxylase DES2 UniProtKB Q564G3
PRO_0000312816

Regions

Transmembrane45 – 6521Helical; Potential
Transmembrane68 – 8821Helical; Potential
Transmembrane210 – 23122Helical; Potential
Region95 – 995Required for C4-hydroxylase activity By similarity UniProtKB Q8R2F2

Amino acid modifications

Lipidation21N-myristoyl glycine By similarity UniProtKB Q564G3

Natural variations

Natural variant81S → N. Ref.1 Ref.3
Corresponds to variant rs7157599 [ dbSNP | Ensembl ].
VAR_060347
Natural variant571A → T. Ref.4
Corresponds to variant rs4905937 [ dbSNP | Ensembl ].
VAR_055698

Sequences

Sequence LengthMass (Da)Tools
Q6QHC5 [UniParc].

Last modified November 24, 2009. Version 2.
Checksum: 4726A4EBD357EB0F

FASTA32337,197
        10         20         30         40         50         60 
MGNSASRSDF EWVYTDQPHT QRRKEILAKY PAIKALMRPD PRLKWAVLVL VLVQMLACWL 

        70         80         90        100        110        120 
VRGLAWRWLL FWAYAFGGCV NHSLTLAIHD ISHNAAFGTG RAARNRWLAV FANLPVGVPY 

       130        140        150        160        170        180 
AASFKKYHVD HHRYLGGDGL DVDVPTRLEG WFFCTPARKL LWLVLQPFFY SLRPLCVHPK 

       190        200        210        220        230        240 
AVTRMEVLNT LVQLAADLAI FALWGLKPVV YLLASSFLGL GLHPISGHFV AEHYMFLKGH 

       250        260        270        280        290        300 
ETYSYYGPLN WITFNVGYHV EHHDFPSIPG YNLPLVRKIA PEYYDHLPQH HSWVKVLWDF 

       310        320 
VFEDSLGPYA RVKRVYRLAK DGL 

« Hide

References

« Hide 'large scale' references
[1]"Identification of the human sphingolipid C4-hydroxylase, hDES2, and its up-regulation during keratinocyte differentiation."
Mizutani Y., Kihara A., Igarashi Y.
FEBS Lett. 563:93-97(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, INDUCTION, VARIANT ASN-8.
Tissue: Skin.
[2]"The DNA sequence and analysis of human chromosome 14."
Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. expand/collapse author list , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]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], VARIANT ASN-8.
[4]"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], VARIANT THR-57.
Tissue: Skin.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY541700 mRNA. Translation: AAS68362.1.
AL133523 Genomic DNA. No translation available.
CH471061 Genomic DNA. Translation: EAW81688.1.
BC063598 mRNA. Translation: AAH63598.1.
CCDSCCDS9956.1.
RefSeqNP_996801.2. NM_206918.2.
UniGeneHs.159643.

3D structure databases

ProteinModelPortalQ6QHC5.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000307126.

PTM databases

PhosphoSiteQ6QHC5.

Polymorphism databases

DMDM269849561.

Proteomic databases

PaxDbQ6QHC5.
PRIDEQ6QHC5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000305631; ENSP00000307126; ENSG00000168350.
GeneID123099.
KEGGhsa:123099.
UCSCuc001ygx.2. human.

Organism-specific databases

CTD123099.
GeneCardsGC14M100612.
H-InvDBHIX0037711.
HGNCHGNC:20113. DEGS2.
HPAHPA046644.
MIM610862. gene.
neXtProtNX_Q6QHC5.
PharmGKBPA134973300.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG321008.
HOGENOMHOG000188299.
HOVERGENHBG052775.
InParanoidQ6QHC5.
KOK04712.
OMAWFFCTPA.
OrthoDBEOG7WDN2X.
PhylomeDBQ6QHC5.
TreeFamTF313582.

Enzyme and pathway databases

BioCycMetaCyc:HS15665-MONOMER.
ReactomeREACT_111217. Metabolism.
UniPathwayUPA00786.

Gene expression databases

ArrayExpressQ6QHC5.
BgeeQ6QHC5.
CleanExHS_DEGS2.
GenevestigatorQ6QHC5.

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

GenomeRNAi123099.
NextBio81073.
PROQ6QHC5.
SOURCESearch...

Entry information

Entry nameDEGS2_HUMAN
AccessionPrimary (citable) accession number: Q6QHC5
Secondary accession number(s): Q6P492
Entry history
Integrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: November 24, 2009
Last modified: July 9, 2014
This is version 84 of the entry and version 2 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

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM