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Q6QHC5

- DEGS2_HUMAN

UniProt

Q6QHC5 - DEGS2_HUMAN

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Protein

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

Gene

DEGS2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli

Functioni

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

Pathwayi

GO - Molecular functioni

  1. sphingolipid delta-4 desaturase activity Source: Ensembl
  2. sphingosine hydroxylase activity Source: Ensembl

GO - Biological processi

  1. ceramide biosynthetic process Source: Ensembl
  2. small molecule metabolic process Source: Reactome
  3. sphinganine metabolic process Source: Ensembl
  4. sphingolipid biosynthetic process Source: Reactome
  5. sphingolipid metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Lipid biosynthesis, Lipid metabolism

Enzyme and pathway databases

BioCyciMetaCyc:HS15665-MONOMER.
ReactomeiREACT_115810. Sphingolipid de novo biosynthesis.
UniPathwayiUPA00786.

Names & Taxonomyi

Protein namesi
Recommended name:
Sphingolipid delta(4)-desaturase/C4-hydroxylase DES2 (EC:1.-.-.-, EC:1.14.-.-)
Alternative name(s):
Degenerative spermatocyte homolog 2
Gene namesi
Name:DEGS2Imported
Synonyms:C14orf66
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:20113. DEGS2.

Subcellular locationi

Endoplasmic reticulum membrane By similarity; Multi-pass membrane protein By similarity

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei45 – 6521HelicalSequence AnalysisAdd
BLAST
Transmembranei68 – 8821HelicalSequence AnalysisAdd
BLAST
Transmembranei210 – 23122HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: Reactome
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134973300.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11RemovedBy similarity
Chaini2 – 323322Sphingolipid delta(4)-desaturase/C4-hydroxylase DES2By similarityPRO_0000312816Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Lipidationi2 – 21N-myristoyl glycineBy similarity

Keywords - PTMi

Lipoprotein, Myristate

Proteomic databases

PaxDbiQ6QHC5.
PRIDEiQ6QHC5.

PTM databases

PhosphoSiteiQ6QHC5.

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

BgeeiQ6QHC5.
CleanExiHS_DEGS2.
ExpressionAtlasiQ6QHC5. baseline and differential.
GenevestigatoriQ6QHC5.

Organism-specific databases

HPAiHPA046644.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000307126.

Structurei

3D structure databases

ProteinModelPortaliQ6QHC5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni95 – 995Required for C4-hydroxylase activityBy similarity

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG321008.
GeneTreeiENSGT00390000013448.
HOGENOMiHOG000188299.
HOVERGENiHBG052775.
InParanoidiQ6QHC5.
KOiK04712.
OMAiWFFCTPA.
OrthoDBiEOG7WDN2X.
PhylomeDBiQ6QHC5.
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.

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti8 – 81S → N.2 Publications
Corresponds to variant rs7157599 [ dbSNP | Ensembl ].
VAR_060347
Natural varianti57 – 571A → T.1 Publication
Corresponds to variant rs4905937 [ dbSNP | Ensembl ].
VAR_055698

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.2. human.

Polymorphism databases

DMDMi269849561.

Keywords - Coding sequence diversityi

Polymorphism

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 .
CCDSi CCDS9956.1.
RefSeqi NP_996801.2. NM_206918.2.
UniGenei Hs.159643.

3D structure databases

ProteinModelPortali Q6QHC5.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000307126.

PTM databases

PhosphoSitei Q6QHC5.

Polymorphism databases

DMDMi 269849561.

Proteomic databases

PaxDbi Q6QHC5.
PRIDEi Q6QHC5.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000305631 ; ENSP00000307126 ; ENSG00000168350 .
GeneIDi 123099.
KEGGi hsa:123099.
UCSCi uc001ygx.2. human.

Organism-specific databases

CTDi 123099.
GeneCardsi GC14M100612.
H-InvDB HIX0037711.
HGNCi HGNC:20113. DEGS2.
HPAi HPA046644.
MIMi 610862. gene.
neXtProti NX_Q6QHC5.
PharmGKBi PA134973300.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG321008.
GeneTreei ENSGT00390000013448.
HOGENOMi HOG000188299.
HOVERGENi HBG052775.
InParanoidi Q6QHC5.
KOi K04712.
OMAi WFFCTPA.
OrthoDBi EOG7WDN2X.
PhylomeDBi Q6QHC5.
TreeFami TF313582.

Enzyme and pathway databases

UniPathwayi UPA00786 .
BioCyci MetaCyc:HS15665-MONOMER.
Reactomei REACT_115810. Sphingolipid de novo biosynthesis.

Miscellaneous databases

GenomeRNAii 123099.
NextBioi 81073.
PROi Q6QHC5.
SOURCEi Search...

Gene expression databases

Bgeei Q6QHC5.
CleanExi HS_DEGS2.
ExpressionAtlasi Q6QHC5. baseline and differential.
Genevestigatori Q6QHC5.

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. "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: SkinImported.
  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.
    , 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. 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: SkinImported.

Entry informationi

Entry nameiDEGS2_HUMAN
AccessioniPrimary (citable) accession number: Q6QHC5
Secondary accession number(s): Q6P492
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: November 24, 2009
Last modified: October 29, 2014
This is version 87 of the entry and version 2 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 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3