H-InvDB_9.0 released on May 27, 2015.
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H-Inv ID (HIT)
H-Inv cluster ID (HIX)
H-Inv protein ID (HIP)
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Definition*
Data source ID
---
CCDS ID
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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;
Select format
Flat file
XML file
Nucleotide sequence fasta
Protein sequence fasta
Transcript original information
Accession number
AF002668.1
CAGE tag ID
NA
EST ID
NA
Clone Number
NA
Experimental resources
NBRC
;
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
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
GCCGCCGCCACCTCTGAGCAGCCGGCTGGGAGCGAGAGCCGACAGCTAGT CTGCAAGCCACCGCTGTCGCCATGGGGAGCCGCGTCTCGCGGGAAGACTT CGAGTGGGTCTACACCGACCAGCCGCACGCCGACCGGCGCCGGGAGATCC TGGCAAAGTATCCAGAGATAAAGTCCTTGATGAAACCTGATCCCAATTTG ATATGGATTATAATTATGATGGTTCTCACCCAGTTGGGTGCATTTTACAT AGTAAAAGACTTGGACTGGAAATGGGTCATATTTGGGGCCTATGCGTTTG GCAGTTGCATTAACCACTCAATGACTCTGGCTATTCATGAGATTGCCCAC AATGCTGCCTTTGGCAACTGCAAAGCAATGTGGAATCGCTGGTTTGGAAT GTTTGCTAATCTTCCTATTGGGATTCCATATTCAATTTCCTTTAAGAGGT ATCACATGGATCATCATCGGTACCTTGGAGCTGATGGCGTCGATGTAGAT ATTCCTACCGATTTTGAGGGCTGGTTCTTCTGTACCGCTTTCAGAAAGTT TATATGGGTTATTCTTCAGCCTCTCTTTTATGCCTTTCGACCTCTGTTCA TCAACCCCAAACCAATTACGTATCTGGAAGTTATCAATACCGTGGCACAG GTCACTTTTGACATTTTAATTTATTACTTTTTGGGAATTAAATCCTTAGT CTACATGTTGGCAGCATCTTTACTTGGCCTGGGTTTGCACCCAATTTCTG GACATTTTATAGCTGAGCATTACATGTTCTTAAAGGGTCATGAAACTTAC TCATATTATGGGCCTCTGAATTTACTTACCTTCAATGTGGGTTATCATAA TGAACATCATGATTTCCCCAACATTCCTGGAAAAAGTCTTCCACTGGTGA GGAAAATAGCAGCTGAATACTATGACAACCTCCCTCACTACAATTCCTGG ATAAAAGTACTGTATGATTTTGTGATGGATGATACAATAAGTCCCTACTC AAGAATGAAGAGGCACCAAAAAGGAGAGATGGTGCTGGAGTAAATATCAT TAGTGCCAAAGGGATTCTTCTCCAAAACTTTAGATGATAAAATTAGCCGG GCGTGGCGGCACATGCCTGTAATCCCAGCTACATGGGAGGCTGAGGTGGG AGAATTGCTTGAACCCAGGAGGCGGAGGCAGAGGCTGCAGTGACCCAAGA TTGTGCCACTGCACTCCACCCTGGGCAACAGAGCAAGACCCCATCNTCGA GAGATNAGATGAGATATATATAAAAAATAAAAAGCTATTTCTAGTTTATT TCACTATAAAGTTTTGCTTTATTAAAAAGCTAATAAACAGCTATTAATCA CAAAAAAAAAAAAAAAAAAAAAAAA
Gene structure information
H-Inv cluster ID
HIX0001626
Genomic location
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-DBAS
;
G-integra
;
cDNA-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
;
MGSRVSREDFEWVYTDQPHADRRREILAKYPEIKSLMKPDPNLIWIIIMM VLTQLGAFYIVKDLDWKWVIFGAYAFGSCINHSMTLAIHEIAHNAAFGNC KAMWNRWFGMFANLPIGIPYSISFKRYHMDHHRYLGADGVDVDIPTDFEG WFFCTAFRKFIWVILQPLFYAFRPLFINPKPITYLEVINTVAQVTFDILI YYFLGIKSLVYMLAASLLGLGLHPISGHFIAEHYMFLKGHETYSYYGPLN LLTFNVGYHNEHHDFPNIPGKSLPLVRKIAAEYYDNLPHYNSWIKVLYDF VMDDTISPYSRMKRHQKGEMVLE*
Motif information
a.a.
length
InterPro
Name
38
IPR013866
Sphingolipid delta4-desaturase, N-terminal [Domain]
218
IPR005804
Fatty acid desaturase, type 1 [Domain]
Gene function information
H-Inv ID
HIT000061687
H-Inv cluster ID
HIX0001626
Accession number
AF002668.1
CAGE tag ID
NA
EST ID
NA
Transcript feature
Representative transcript;
Splicing isoform
Coding potential
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
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
9188692
;
11937514
;
15489334
;
18669648
;
19647031
;
21269460
;
ALL
;
Gene family/group
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)
H-Inv protein ID
HIP000060871
No. of interaction
19
Interaction partner(s)
HIP000022138
;
HIP000022816
;
HIP000023206
;
HIP000027837
;
HIP000030416
;
HIP000031648
;
HIP000035147
;
HIP000036625
;
HIP000055591
;
HIP000056003
;
HIP000057857
;
HIP000064222
;
HIP000070671
;
HIP000078228
;
HIP000085901
;
HIP000098140
;
HIP000106788
;
HIP000213627
;
HIP000337841
;
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
Human-Gene diversity Of Life-style related Diseases
;
Curation status
Human curated
Notes
NA
Related H-InvDB links
Gene family;
Similarity Search Tool
;
TACT
;
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;
JRE-1.4.0 or later is required.
Download JRE at
Sun's web site.
Gene expression information
Last modified:27-May-2015
Tissue-specific expression
NA
Probe
information
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-ANGEL
;
DNAProbeLocator
;
Evolutionary information
Last modified:27-May-2015
Relationship
Species
Accession number
MGI
Links
Orthology
Gallus sp.
(Chicken)
AJ851729
G-integra
Orthology
Mus sp.
(Mouse)
AK077257
MGI:1897837
G-integra
Orthology
Danio sp.
(Zebrafish)
BC053183
G-integra
Orthology
Rattus sp.
(Rat)
BC083727
G-integra
Orthology
Bos sp.
(Cow)
BC103031
G-integra
Orthology
Pongo sp.
(Orangutan)
CR857686
G-integra
Orthology
Canis sp.
(Dog)
ENSCAFT00000025968
G-integra
Orthology
Pan sp.
(Chimpanzee)
ENSPTRT00000003677
G-integra
Orthology
Takifugu sp.
(Fugu)
SINFRUT00000130724
G-integra
Orthology
Macaca sp.
(Macaque)
XM_001096845
G-integra
Orthology
Monodelphis sp.
(Opossum)
XM_001367859
G-integra
Orthology
Equus sp.
(Horse)
XM_001489618
G-integra
Phylogenetic tree [View by
ATV]
Neighbor-joining (phb)
Related H-InvDB links
Evola
;
d
N
/
d
S
(under constraction);
Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information
Single Nucleotide Polymorphism (SNP) and indel
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
Type
Start
End
Strand
AluSx
1089
1245
+
Database links
Human-Gene diversity Of Life-style related Diseases(H-GOLD)
;
Related H-InvDB links
VaryGene
;
Repeat Mask Viewer
;