Hmdb loader
Identification
HMDB Protein ID HMDBP07414
Secondary Accession Numbers
  • 13107
Name Sphingolipid delta(4)-desaturase/C4-hydroxylase DES2
Synonyms
  1. Degenerative spermatocyte homolog 2
Gene Name DEGS2
Protein Type Enzyme
Biological Properties
General Function Involved in oxidoreductase activity
Specific Function Bifunctional enzyme which acts as both a sphingolipid delta(4)-desaturase and a sphingolipid C4-hydroxylase
Pathways
  • Fabry disease
  • Gaucher Disease
  • Globoid Cell Leukodystrophy
  • Krabbe disease
  • Metachromatic Leukodystrophy (MLD)
  • Starch and sucrose metabolism
Reactions Not Available
GO Classification
Component
integral to membrane
cell part
intrinsic to membrane
membrane part
Function
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
oxidoreductase activity
catalytic activity
Process
fatty acid metabolic process
lipid metabolic process
oxidation reduction
fatty acid biosynthetic process
monocarboxylic acid metabolic process
carboxylic acid metabolic process
oxoacid metabolic process
organic acid metabolic process
cellular metabolic process
primary metabolic process
metabolic process
Cellular Location
  1. Endoplasmic reticulum membrane
  2. Multi-pass membrane protein
Gene Properties
Chromosome Location Chromosome:1
Locus 14q32.2
SNPs DEGS2
Gene Sequence
>972 bp
ATGGGCAACAGCGCGAGCCGCAGCGACTTCGAGTGGGTCTACACCGACCAGCCGCACACG
CAGCGGCGCAAGGAGATACTGGCCAAGTACCCGGCCATCAAGGCCCTGATGCGGCCAGAC
CCGCGCCTCAAGTGGGCGGTGCTGGTGCTGGTGCTGGTGCAGATGCTGGCCTGCTGGCTG
GTGCGCGGGCTGGCCTGGCGCTGGCTGCTGTTCTGGGCCTACGCCTTTGGTGGCTGCGTG
AACCACTCGCTGACGCTGGCCATCCACGACATCTCGCACAACGCGGCCTTCGGCACGGGC
CGTGCGGCACGCAACCGCTGGCTGGCCGTGTTCGCCAACCTGCCCGTGGGTGTGCCCTAC
GCCGCCTCCTTCAAGAAGTACCACGTGGACCACCACCGCTACCTGGGCGGCGACGGGCTG
GACGTGGACGTGCCCACGCGTCTGGAGGGCTGGTTCTTCTGCACACCCGCCCGCAAGCTG
CTCTGGCTGGTGCTGCAGCCCTTCTTCTACTCACTACGGCCGCTCTGCGTCCACCCCAAG
GCCGTGACCCGCATGGAGGTGCTCAACACGCTGGTGCAGCTGGCGGCCGACCTGGCCATC
TTTGCCCTTTGGGGGCTCAAGCCCGTGGTCTACCTGCTGGCCAGCTCCTTCCTGGGCCTG
GGCCTGCACCCCATCTCGGGCCACTTCGTGGCCGAGCACTACATGTTCCTCAAGGGCCAC
GAGACCTACTCCTACTATGGGCCTCTCAACTGGATCACCTTCAATGTGGGCTACCACGTG
GAGCACCACGACTTCCCCAGCATCCCGGGCTACAACCTGCCGCTGGTGCGGAAGATCGCG
CCCGAGTACTACGACCACCTGCCGCAGCACCACTCCTGGGTGAAGGTGCTCTGGGATTTT
GTGTTTGAGGACTCCCTGGGGCCCTATGCCAGGGTGAAGCGGGTGTACAGGCTGGCAAAA
GATGGTCTGTGA
Protein Properties
Number of Residues 323
Molecular Weight 37197.0
Theoretical pI 9.62
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • 45-65
  • 68-88
  • 210-231
Protein Sequence
>Sphingolipid delta(4)-desaturase/C4-hydroxylase DES2
MGNSASRSDFEWVYTDQPHTQRRKEILAKYPAIKALMRPDPRLKWAVLVLVLVQMLACWL
VRGLAWRWLLFWAYAFGGCVNHSLTLAIHDISHNAAFGTGRAARNRWLAVFANLPVGVPY
AASFKKYHVDHHRYLGGDGLDVDVPTRLEGWFFCTPARKLLWLVLQPFFYSLRPLCVHPK
AVTRMEVLNTLVQLAADLAIFALWGLKPVVYLLASSFLGLGLHPISGHFVAEHYMFLKGH
ETYSYYGPLNWITFNVGYHVEHHDFPSIPGYNLPLVRKIAPEYYDHLPQHHSWVKVLWDF
VFEDSLGPYARVKRVYRLAKDGL
GenBank ID Protein 207113139
UniProtKB/Swiss-Prot ID Q6QHC5
UniProtKB/Swiss-Prot Entry Name DEGS2_HUMAN
PDB IDs Not Available
GenBank Gene ID NM_206918.2
GeneCard ID DEGS2
GenAtlas ID DEGS2
HGNC ID HGNC:20113
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Heilig R, Eckenberg R, Petit JL, 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, Bruls 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, Fulton L, McPherson J, Matsuda F, Wilson R, Scarpelli C, Gyapay G, Wincker P, Saurin W, Quetier F, Waterston R, Hood L, Weissenbach J: The DNA sequence and analysis of human chromosome 14. Nature. 2003 Feb 6;421(6923):601-7. Epub 2003 Jan 1. [PubMed:12508121 ]
  3. Mizutani Y, Kihara A, Igarashi Y: Identification of the human sphingolipid C4-hydroxylase, hDES2, and its up-regulation during keratinocyte differentiation. FEBS Lett. 2004 Apr 9;563(1-3):93-7. [PubMed:15063729 ]