H-InvDB x AHG DB
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H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID: HIT000061687 Accession number: AF002668 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Sphingolipid delta(4)-desaturase DES1; EC=1.14.-.-; Cell migration-inducing gene 15 protein; Degenerative spermatocyte homolog 1; Membrane lipid desaturase;
 
 

Transcript original information
Accession number AF002668.1
CAGE tag ID NA
EST ID NA
Clone Number NA
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ;
Sequence data provider NA
Annotation project NA
Length of cDNA 1375[bp] (No. of exon:4)[A:393 T:384 G:302 C:294]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type NA
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA Site: 1352(+) Signal: 1343-1347(+)
Vector/adapter sequence NA
Frame shift NA
Remaining intron NA
Splice site acceptor (NAGNAG) NA
Transcript quality feature NA
Notes NA

Gene structure information  G-integra H-DBAS cDNA-genome alignment
H-Inv cluster ID HIX0001626
Genomic location  G-integra Help Chromosome 1
Location 1q42.11
Position 224370968- 224380862
Strand +
Possible duplicated location(s) NA
Gene structure 4 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:8560
KEGG GENES KEGG GENES(8560)
GeneCard NA *GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links H-DBASH-DBAS G-integraG-integra cDNA-genome alignmentcDNA-genome alignment

Predicted CDS information
HIP ID HIP000060871
Predicted CDS 72..1043;  323[aa];  Orientation:+3; 
Codon Adaptation Index (CAI). 0.745
Database links RefSeq NP_003667
UniProt O15121
CCDS CCDS1540

Motif information
ORF

length(323),orf(72:1043)
MGSRVSREDFEWVYTDQPHADRRREILAKYPEIKSLMKPDPNLIWIIIMM
VLTQLGAFYIVKDLDWKWVIFGAYAFGSCINHSMTLAIHEIAHNAAFGNC
KAMWNRWFGMFANLPIGIPYSISFKRYHMDHHRYLGADGVDVDIPTDFEG
WFFCTAFRKFIWVILQPLFYAFRPLFINPKPITYLEVINTVAQVTFDILI
YYFLGIKSLVYMLAASLLGLGLHPISGHFIAEHYMFLKGHETYSYYGPLN
LLTFNVGYHNEHHDFPNIPGKSLPLVRKIAAEYYDNLPHYNSWIKVLYDF
VMDDTISPYSRMKRHQKGEMVLE*
a.a.
length
InterPro Name
length(38), motif(5:42) 38 IPR013866 Sphingolipid delta4-desaturase, N-terminal [Domain]
length(218), motif(68:285) 218 IPR005804 Fatty acid desaturase, type 1 [Domain]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000061687
H-Inv cluster ID Locus viewHIX0001626
Accession number AF002668.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help Representative H-Inv IDRepresentative transcript;  Splicing isoformSplicing isoform
Coding potential  Help Protein coding; 
Definition Sphingolipid delta(4)-desaturase DES1; EC=1.14.-.-; Cell migration-inducing gene 15 protein; Degenerative spermatocyte homolog 1; Membrane lipid desaturase;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (O15121)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 91886921193751415489334186696481964703121269460ALL
Gene family/group Gene family H-Inv gene family/group ID NA
Gene family/group name NA
Evidence motif (InterPro) ID NA
Gene symbol/name HGNC symbol NA
HGNC aliases NA
HGNC name NA
DDBJ NA
UniProt DEGS1
EC number EC 1.14.-.-Acting on paired donors, with incorporation or reduction of molecular oxygen; 
GGDB
(GlycoGene Database)
Gene symbol NA
Familly NA
Designation NA
Expression NA
KEGG metabolic pathway NA
Protein-protein interaction (PPI) PPI viewer H-Inv protein ID HIP000060871
No. of interaction 19
Interaction partner(s) HIP000022138HIP000022816HIP000023206HIP000027837HIP000030416HIP000031648HIP000035147HIP000036625HIP000055591HIP000056003HIP000057857HIP000064222HIP000070671HIP000078228HIP000085901HIP000098140HIP000106788HIP000213627HIP000337841
BIND NA
DIP 112799E;  112865E;  113717E;  115169E;  115459E;  115495E;  115835E;  116081E;  116226E;  116492E;  117062E;  117298E; 
MINT NA
HPRD 00579;  00717;  01986;  02816;  03734;  05400;  07663;  10600;  12027;  12145;  14727; 
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:8560
KEGG GENES KEGG GENES(8560)
GeneCard NA *GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases
Curation status Human curated
Notes NA
Related H-InvDB links Gene familyGene family;  Similarity Search ToolSimilarity Search Tool TACTTACT
fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome. 
FR ID FR290445
Accession
Description
Location
PMID
FR ID FR363375
Accession
Description
Location
PMID

Gene ontology information
Biological process lipid metabolic process (GO:0006629); 

Subcellular localization information  Last modified:27-May-2015
WoLF PSORT plasma membrane;  extracellular;  endoplasmic;  Other; 
Target P Not predicted
SOSUI membrane protein
TMHMM membrane protein
PTS1 Not targeted
Related H-InvDB links LIFEdb LIFEdb; 
JRE-1.4.0 or later is required. Download JRE at Sun's web site.

Gene expression information  H-ANGEL DNAProbeLocator Last modified:27-May-2015
Tissue-specific expression  H-ANGEL NA
Probe
information DNAProbeLocator
AceGene AGhsA241404; 
Affymetrix
GeneChip
HG-Focus NA
HG-U133 207431_s_at; 
HG-U133A 207431_s_at; 
HG-U133A_2 207431_s_at; 
HG-U133B NA
HG-U133_Plus_2 207431_s_at; 
HG-U95 NA
HG-U95A NA
HG-U95B NA
HG-U95C NA
HG-U95D NA
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 2382364;  2382371;  2382372;  2382375;  2382376;  2382378;  2457995;  2458002; 
HuGeneFL NA
Agilent Human 1A Oligo Microarray:PGID215 NA
Whole Human Genome Oligo Microarray:PGID247 A_24_P387839; 
Related H-InvDB links H-ANGELH-ANGEL DNAProbeLocatorDNAProbeLocator

Evolutionary information  Evola Help Last modified:27-May-2015
Relationship Species Accession number MGI Links
Orthology Gallus sp. (Chicken) AJ851729 G-integraG-integra
Orthology Mus sp. (Mouse) AK077257 MGI:1897837 G-integraG-integra
Orthology Danio sp. (Zebrafish) BC053183 G-integraG-integra
Orthology Rattus sp. (Rat) BC083727 G-integraG-integra
Orthology Bos sp. (Cow) BC103031 G-integraG-integra
Orthology Pongo sp. (Orangutan) CR857686 G-integraG-integra
Orthology Canis sp. (Dog) ENSCAFT00000025968 G-integraG-integra
Orthology Pan sp. (Chimpanzee) ENSPTRT00000003677 G-integraG-integra
Orthology Takifugu sp. (Fugu) SINFRUT00000130724 G-integraG-integra
Orthology Macaca sp. (Macaque) XM_001096845 G-integraG-integra
Orthology Monodelphis sp. (Opossum) XM_001367859 G-integraG-integra
Orthology Equus sp. (Horse) XM_001489618 G-integraG-integra
Phylogenetic tree [View by ATV]
Neighbor-joining (phb) 
Related H-InvDB links EvolaEvoladN/dS (under constraction); 

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information  VaryGene Repeat mask viewer
 Single Nucleotide Polymorphism (SNP) and indel  VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
98 .. 98 C/A rs201220123 + CDS Nonsynonymous[Asp9Glu]
116 .. 116 C/A rs199893861 + CDS Synonymous[Thr15Thr]
156 .. 156 A/G rs202124477 + CDS Nonsynonymous[Lys29Glu]
172 .. 172 A/G rs147100470 + CDS Nonsynonymous[Lys34Arg]
264 .. 264 G/A rs138717762 + CDS Nonsynonymous[Asp65Asn]
362 .. 362 T/C rs142757271 + CDS Synonymous[Phe97Phe]
428 .. 428 A/G rs147284004 + CDS Synonymous[Pro119Pro]
527 .. 527 C/T rs139145685 + CDS Synonymous[Phe152Phe]
536 .. 536 C/T rs185497439 + CDS Synonymous[Thr155Thr]
554 .. 554 A/G rs188238679 + CDS Nonsynonymous[Ile161Met]
593 .. 593 T/C rs201046134 + CDS Synonymous[Pro174Pro]
595 .. 595 T/A rs191144864 + CDS Nonsynonymous[Leu175Gln]
599 .. 599 C/T rs6686449 + CDS Synonymous[Phe176Phe]
619 .. 619 C/T rs184105229 + CDS Nonsynonymous[Thr183Met]
642 .. 642 G/A rs188450448 + CDS Nonsynonymous[Val191Met]
712 .. 712 C/G rs142035782 + CDS Nonsynonymous[Ala214Gly]
770 .. 770 T/G rs144040007 + CDS Nonsynonymous[His233Gln]
779 .. 779 C/G rs146461576 + CDS Nonsynonymous[Phe236Leu]
796 .. 796 C/A rs3170979 + CDS Nonsynonymous[Thr242Asn]
834 .. 834 A/T rs74146330 + CDS Nonsynonymous[Asn255Tyr]
871 .. 871 A/G rs61732863 + CDS Nonsynonymous[Asn267Ser]
945 .. 945 T/A rs142379689 + CDS Nonsynonymous[Ser292Thr]
957 .. 957 G/C rs148333931 + CDS Nonsynonymous[Val296Leu]
1107 .. 1107 C/T rs193052126 + 3'UTR
1116 .. 1116 C/T rs112243303 + 3'UTR
1161 .. 1161 G/A rs183946356 + 3'UTR
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
 Repeat  Repeat mask viewer
Type Start End Strand
AluSx 1089 1245 +
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene Repeat mask viewerRepeat Mask Viewer