Q6QHC5 (DEGS2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	323 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Lipid biosynthesis Lipid metabolism
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane helix
Molecular function	Oxidoreductase
PTM	Lipoprotein Myristate
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ceramide biosynthetic process Inferred from electronic annotation. Source: Compara fatty acid biosynthetic process Inferred from electronic annotation. Source: InterPro phospholipid metabolic process Traceable author statement. Source: Reactome small molecule metabolic process Traceable author statement. Source: Reactome sphinganine metabolic process Inferred from electronic annotation. Source: Compara sphingolipid biosynthetic process Traceable author statement. Source: Reactome
Cellular_component	endoplasmic reticulum membrane Traceable author statement. Source: Reactome integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	sphingolipid delta-4 desaturase activity Inferred from electronic annotation. Source: Compara sphingosine hydroxylase activity Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed By similarity UniProtKB Q564G3
	Chain	2 – 323	322	Sphingolipid delta(4)-desaturase/C4-hydroxylase DES2 UniProtKB Q564G3		PRO_0000312816
Regions
	Transmembrane	45 – 65	21	Helical; Potential
	Transmembrane	68 – 88	21	Helical; Potential
	Transmembrane	210 – 231	22	Helical; Potential
	Region	95 – 99	5	Required for C4-hydroxylase activity By similarity UniProtKB Q8R2F2
Amino acid modifications
	Lipidation	2	1	N-myristoyl glycine By similarity UniProtKB Q564G3
Natural variations
	Natural variant	8	1	S → N. Ref.1 Ref.3 Corresponds to variant rs7157599 [ dbSNP | Ensembl ].		VAR_060347
	Natural variant	57	1	A → T. Ref.4 Corresponds to variant rs4905937 [ dbSNP | Ensembl ].		VAR_055698

Sequences

	Sequence		Length	Mass (Da)
	Q6QHC5 [UniParc]. Last modified November 24, 2009. Version 2. Checksum: 4726A4EBD357EB0F	FASTA	323	37,197
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
IPI	IPI00410145.
RefSeq	NP_996801.2. NM_206918.2.
UniGene	Hs.159643.
3D structure databases
ProteinModelPortal	Q6QHC5.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000307126.
PTM databases
PhosphoSite	Q6QHC5.
Polymorphism databases
DMDM	269849561.
Proteomic databases
PaxDb	Q6QHC5.
PRIDE	Q6QHC5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000305631; ENSP00000307126; ENSG00000168350.
GeneID	123099.
KEGG	hsa:123099.
UCSC	uc001ygx.2. human.
Organism-specific databases
CTD	123099.
GeneCards	GC14M100612.
H-InvDB	HIX0037711.
HGNC	HGNC:20113. DEGS2.
HPA	HPA046644.
MIM	610862. gene.
neXtProt	NX_Q6QHC5.
PharmGKB	PA134973300.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG321008.
HOGENOM	HOG000188299.
HOVERGEN	HBG052775.
InParanoid	Q6QHC5.
KO	K04712.
OMA	PQHHSWV.
OrthoDB	EOG4JM7PZ.
PhylomeDB	Q6QHC5.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism.
UniPathway	UPA00786.
Gene expression databases
ArrayExpress	Q6QHC5.
Bgee	Q6QHC5.
CleanEx	HS_DEGS2.
Genevestigator	Q6QHC5.
Family and domain databases
InterPro	IPR005804. Fatty_acid_desaturase-1. IPR011388. Sphingolipid_d4-desaturase. IPR013866. Sphingolipid_d4-desaturase_N. [Graphical view]
Pfam	PF00487. FA_desaturase. 1 hit. PF08557. Lipid_DES. 1 hit. [Graphical view]
PIRSF	PIRSF017228. Sphnglp_dlt4_des. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	123099.
NextBio	81073.
SOURCE	Search...

Entry information

Entry name

DEGS2_HUMAN

Accession

Primary (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:	April 3, 2013
This is version 76 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.