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This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group of membrane fatty acid desaturases. It is predicted to be a multiple membrane-spanning protein localized to the endoplasmic r... See more...
Aliases for DEGS1 Gene
Aliases for DEGS1 Gene
- Delta 4-Desaturase, Sphingolipid 1 2 3 5
- DES1 2 3 4
- MLD 2 3 4
- Cell Migration-Inducing Gene 15 Protein 3 4
- Sphingolipid Delta(4)-Desaturase DES1 3 4
- Sphingolipid Delta(4)-Desaturase 1 2 3
- Dihydroceramide Desaturase 1 2 3
- Membrane Lipid Desaturase 3 4
- DEGS-1 2 3
- Des-1 2 3
- FADS7 2 3
- Degenerative Spermatocyte Homolog 1, Lipid Desaturase (Drosophila) 2
- Degenerative Spermatocyte Homolog 1, Lipid Desaturase 3
- Degenerative Spermatocyte Homolog, Lipid Desaturase 3
- Membrane Fatty Acid (Lipid) Desaturase 3
- Degenerative Spermatocyte Homolog 1 4
- Migration-Inducing Gene 15 Protein 3
- Sphingolipid Delta 4 Desaturase 3
- Dihydroceramide Desaturase-1 4
- EC 1.14.19.17 4
- HLD18 3
- MIG15 3
- DEGS1 5
- DEGS 3
External Ids for DEGS1 Gene
- HGNC: 13709
- NCBI Entrez Gene: 8560
- Ensembl: ENSG00000143753
- OMIM®: 615843
- UniProtKB/Swiss-Prot: O15121
Previous GeneCards Identifiers for DEGS1 Gene
- GC01P220678
- GC01P222437
- GC01P224364
- GC01P194891
Summaries for DEGS1 Gene
-
This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group of membrane fatty acid desaturases. It is predicted to be a multiple membrane-spanning protein localized to the endoplasmic reticulum. Overexpression of this gene inhibited biosynthesis of the EGF receptor, suggesting a possible role of a fatty acid desaturase in regulating biosynthetic processing of the EGF receptor. [provided by RefSeq, Mar 2010]
GeneCards Summary for DEGS1 Gene
DEGS1 (Delta 4-Desaturase, Sphingolipid 1) is a Protein Coding gene. Diseases associated with DEGS1 include Leukodystrophy, Hypomyelinating, 18 and Leukodystrophy. Among its related pathways are Innate Immune System and Sphingolipid signaling pathway. Gene Ontology (GO) annotations related to this gene include electron transfer activity and sphingolipid delta-4 desaturase activity. An important paralog of this gene is DEGS2.
UniProtKB/Swiss-Prot Summary for DEGS1 Gene
-
Has sphingolipid-delta-4-desaturase activity. Converts D-erythro-sphinganine to D-erythro-sphingosine (E-sphing-4-enine) (PubMed:11937514, PubMed:30620337, PubMed:30620338). Catalyzes the equilibrium isomerization of retinols (By similarity).
Additional gene information for DEGS1 Gene
- HGNC (13709)
- NCBI Entrez Gene (8560)
- Ensembl (ENSG00000143753)
- OMIM® (615843)
- UniProtKB/Swiss-Prot (O15121)
- Open Targets Platform(ENSG00000143753)
- Search for DEGS1 at DataMed
- Search for DEGS1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DEGS1 Gene
Genomics for DEGS1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for DEGS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around DEGS1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DEGS1
- Top Transcription factor binding sites by QIAGEN in the DEGS1 gene promoter:
-
- AP-2beta
- AP-2gamma
- ATF-2
- c-Myc
- FOXO3
- FOXO3a
- FOXO3b
- Max1
- RORalpha2
- ZIC2
Genomic Locations for DEGS1 Gene
Latest Assembly
- chr1:224,175,756-224,193,441
- (GRCh38/hg38)
- Size:
- 17,686 bases
- Orientation:
- Plus strand
Previous Assembly
- chr1:224,370,942-224,381,143
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 10,202 bases
- Orientation:
- Plus strand
- chr1:224,363,458-224,381,143
- (GRCh37/hg19 by Ensembl)
- Size:
- 17,686 bases
- Orientation:
- Plus strand
Genomic View for DEGS1 Gene
Genes around DEGS1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q42.11 by HGNC
- 1q42.11 by Entrez Gene
- 1q42.11 by Ensembl
DEGS1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for DEGS1 Gene
Proteins for DEGS1 Gene
-
Protein details for DEGS1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O15121-DEGS1_HUMAN
- Recommended name:
- Sphingolipid delta(4)-desaturase DES1
- Protein Accession:
- O15121
Protein attributes for DEGS1 Gene
- Size:
- 323 amino acids
- Molecular mass:
- 37866 Da
- Quaternary structure:
-
- Interacts with RLBP1; the interaction increases synthesis of chromophore-precursors by DEGS1.
Protein Expression for DEGS1 Gene
Post-translational modifications for DEGS1 Gene
- Myristoylation can target the enzyme to the mitochondria leading to an increase in ceramide levels.
-
Ubiquitination at Lys29 and Lys278
- NX_O15121 (NX_O15121-1)
- Modification sites at PhosphoSitePlus
Other Protein References for DEGS1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences DEGS1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for DEGS1
- Novus Biologicals Antibodies for DEGS1
-
Abcam antibodies for DEGS1
- Invitrogen Antibodies for DEGS1 (AFLGC-DEGS1)
-
Biorbyt antibodies for DEGS1
-
Custom Antibody ServicesProSci Antibodies for DEGS1
-
Santa Cruz Biotechnology (SCBT) Antibodies for DEGS1
- Sino Biological Antibodies for DEGS1
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for DEGS1
- Origene Custom Protein Services for DEGS1
- antibodies-online: Show 5 available DEGS1 Proteins ranked by validation data
- Compare Top DEGS1 Proteins
-
Quality Products:
-
Abcam proteins for DEGS1
Assay products for research
- antibodies-online: Show 8 available DEGS1 Elisa Kits ranked by validation data
- Compare Top DEGS1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for DEGS1 Gene
Domains & Families for DEGS1 Gene
Gene Families for DEGS1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted membrane proteins
Protein Domains for DEGS1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for DEGS1 Gene
- GenScript: Design optimal peptide antigens:
-
- Degenerative spermatocyte homolog 1 (A8CGI7_HUMAN)
- Membrane lipid desaturase (DEGS1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O15121UniProtKB/Swiss-Prot:
DEGS1_HUMAN :- Belongs to the fatty acid desaturase type 1 family. DEGS subfamily.
- Family:
-
- Belongs to the fatty acid desaturase type 1 family. DEGS subfamily.
Function for DEGS1 Gene
Molecular function for DEGS1 Gene
- UniProtKB/Swiss-Prot Function:
- Has sphingolipid-delta-4-desaturase activity. Converts D-erythro-sphinganine to D-erythro-sphingosine (E-sphing-4-enine) (PubMed:11937514, PubMed:30620337, PubMed:30620338). Catalyzes the equilibrium isomerization of retinols (By similarity).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2 [Fe(II)-cytochrome b5] + an N-acylsphinganine + 2 H(+) + O2 = 2 [Fe(III)-cytochrome b5] + an N-acylsphing-4-enine + 2 H2O; Xref=Rhea:RHEA:46544, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:31488, ChEBI:CHEBI:52639; EC=1.14.19.17; Evidence={ECO:0000269|PubMed:11937514, ECO:0000269|PubMed:30620338};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=AH2 + an N-acylsphinganine + O2 = A + an N-acylsphing-4-enine + 2 H2O; Xref=Rhea:RHEA:36075, ChEBI:CHEBI:13193, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:17499, ChEBI:CHEBI:31488, ChEBI:CHEBI:52639; Evidence={ECO:0000269|PubMed:11937514};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=all-trans-retinol = 11-cis-retinol; Xref=Rhea:RHEA:19141, ChEBI:CHEBI:16302, ChEBI:CHEBI:17336; Evidence={ECO:0000269|PubMed:23143414};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=all-trans-retinol = 9-cis-retinol; Xref=Rhea:RHEA:55348, ChEBI:CHEBI:17336, ChEBI:CHEBI:78272; Evidence={ECO:0000250|UniProtKB:Q5F3C1};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=all-trans-retinol = 13-cis-retinol; Xref=Rhea:RHEA:55352, ChEBI:CHEBI:17336, ChEBI:CHEBI:45479; Evidence={ECO:0000250|UniProtKB:Q5F3C1};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=11-cis-retinol = 13-cis-retinol; Xref=Rhea:RHEA:55356, ChEBI:CHEBI:16302, ChEBI:CHEBI:45479; Evidence={ECO:0000250|UniProtKB:Q5F3C1};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=11-cis-retinol = 9-cis-retinol; Xref=Rhea:RHEA:55360, ChEBI:CHEBI:16302, ChEBI:CHEBI:78272; Evidence={ECO:0000250|UniProtKB:Q5F3C1};.
Enzyme Numbers (IUBMB) for DEGS1 Gene
Phenotypes From GWAS Catalog for DEGS1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 32296183 |
| GO:0009055 | electron transfer activity | TAS | 9188692 |
| GO:0016491 | oxidoreductase activity | IEA | -- |
| GO:0042284 | sphingolipid delta-4 desaturase activity | TAS | -- |
| GO:0050251 | retinol isomerase activity | IDA | 23143414 |
Phenotypes for DEGS1 Gene
- MGI mutant phenotypes for DEGS1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for DEGS1:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Decreased viability in esophageal squamous lineage
- Decreased vaccinia virus (VACV) infection
- Decreased viability after Maraba virus infection
- Strongly decreased CFP-tsO45G cell surface transport
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Increased G1 DNA content
- Increased viability with MLN4924 (a NAE inhibitor)
- G0/1 arrest
Animal Models for research
-
Taconic Biosciences Mouse Models for DEGS1
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for DEGS1 - Starting at $85 >
- * DEGS1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for DEGS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DEGS1
-
Santa Cruz Biotechnology (SCBT) CRISPR for DEGS1
miRNA for DEGS1 Gene
- miRTarBase miRNAs that target DEGS1
-
- mmu-miR-425-5p (MIRT008680)
- mmu-miR-26a-5p (MIRT011304)
- hsa-miR-155-5p (MIRT020768)
- hsa-miR-215-5p (MIRT024553)
- hsa-miR-192-5p (MIRT026493)
- hsa-miR-34a-5p (MIRT047375)
- hsa-miR-19b-3p (MIRT050636)
- hsa-let-7a-5p (MIRT052511)
- hsa-miR-190a-3p (MIRT271520)
- hsa-miR-1273f (MIRT271525)
- hsa-miR-6890-5p (MIRT271526)
- hsa-miR-340-5p (MIRT271528)
- hsa-miR-3606-5p (MIRT271530)
- hsa-miR-4662a-3p (MIRT271531)
- hsa-miR-5096 (MIRT517610)
- hsa-miR-6855-5p (MIRT517611)
- hsa-miR-3170 (MIRT517612)
- hsa-miR-3187-3p (MIRT517613)
- hsa-miR-4435 (MIRT517614)
- hsa-miR-588 (MIRT517615)
- hsa-miR-4701-5p (MIRT517616)
- hsa-miR-548s (MIRT517617)
- hsa-miR-411-5p (MIRT517618)
- hsa-miR-6832-5p (MIRT517619)
- hsa-miR-193b-5p (MIRT517620)
- hsa-miR-4755-3p (MIRT517621)
- hsa-miR-5590-3p (MIRT560759)
- hsa-miR-142-5p (MIRT560760)
- hsa-miR-6878-3p (MIRT673536)
- hsa-miR-640 (MIRT673537)
- hsa-miR-378a-5p (MIRT673538)
- hsa-miR-6744-3p (MIRT673539)
- hsa-miR-4757-5p (MIRT673540)
- hsa-miR-6778-3p (MIRT673541)
- hsa-miR-6821-3p (MIRT673542)
- hsa-miR-6790-3p (MIRT673543)
- hsa-miR-3653-5p (MIRT673544)
- hsa-miR-150-5p (MIRT673545)
- hsa-miR-212-5p (MIRT673546)
- hsa-miR-1224-3p (MIRT673547)
- hsa-miR-186-3p (MIRT673548)
- hsa-miR-3934-5p (MIRT673549)
- hsa-miR-764 (MIRT673550)
- hsa-miR-125a-3p (MIRT673551)
- hsa-miR-6813-3p (MIRT673552)
- hsa-miR-520h (MIRT677141)
- hsa-miR-520g-3p (MIRT677142)
- hsa-miR-520e (MIRT677143)
- hsa-miR-520d-3p (MIRT677144)
- hsa-miR-520c-3p (MIRT677145)
- hsa-miR-520b (MIRT677146)
- hsa-miR-520a-3p (MIRT677147)
- hsa-miR-373-3p (MIRT677148)
- hsa-miR-372-3p (MIRT677149)
- hsa-miR-302e (MIRT677150)
- hsa-miR-302d-3p (MIRT677151)
- hsa-miR-302c-3p (MIRT677152)
- hsa-miR-302b-3p (MIRT677153)
- hsa-miR-302a-3p (MIRT677154)
- hsa-miR-93-5p (MIRT677155)
- hsa-miR-526b-3p (MIRT677156)
- hsa-miR-519d-3p (MIRT677157)
- hsa-miR-20b-5p (MIRT677158)
- hsa-miR-20a-5p (MIRT677159)
- hsa-miR-17-5p (MIRT677160)
- hsa-miR-106b-5p (MIRT677161)
- hsa-miR-106a-5p (MIRT677162)
- hsa-miR-6848-3p (MIRT679286)
- hsa-miR-6843-3p (MIRT679287)
- hsa-miR-3663-5p (MIRT679288)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DEGS1
- Browse OriGene Inhibitory RNA Products For DEGS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEGS1
Clone products for research
- Applied Biological Materials (abm): Clones for DEGS1 - Starting at $45 >
- * DEGS1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for DEGS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DEGS1
Cell Lines for research
-
Horizon Cell Lines for DEGS1
No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for DEGS1 Gene
Localization for DEGS1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for DEGS1 Gene
- Mitochondrion membrane. Endoplasmic reticulum membrane. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| mitochondrion | 4 |
| endoplasmic reticulum | 4 |
| extracellular | 2 |
| cytosol | 2 |
| lysosome | 2 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
- Mitochondria (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IEA,IDA | -- |
| GO:0005783 | endoplasmic reticulum | TAS | 9188692 |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | TAS | 9188692 |
Pathways & Interactions for DEGS1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism |
.40
|
|
| 2 | Sphingolipid metabolism | ||
| 3 | Innate Immune System |
.61
|
|
| 4 | Sphingolipid signaling pathway | ||
Pathways by source for DEGS1 Gene
7 Reactome pathways for DEGS1 Gene
3 KEGG pathways for DEGS1 Gene
Interacting Proteins for DEGS1 Gene
Selected Interacting proteins:
O15121-DEGS1_HUMAN
ENSP00000316476
for DEGS1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for DEGS1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0006631 | fatty acid metabolic process | IEA | -- |
| GO:0006633 | fatty acid biosynthetic process | IEA | -- |
| GO:0006636 | unsaturated fatty acid biosynthetic process | TAS | 9188692 |
| GO:0022900 | electron transport chain | IEA | -- |
No data available for SIGNOR curated interactions for DEGS1 Gene
Transcripts for DEGS1 Gene
mRNA/cDNA for DEGS1 Gene
- 4 REFSEQ mRNAs :
- 7 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000323699 2032 nts (view in UCSC)
- ENST00000391877 1345 nts (view in UCSC)
- ENST00000415210 957 nts (view in UCSC)
- ENST00000465848 633 nts (view in UCSC)
- ENST00000498813 358 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for DEGS1 - Starting at $85 >
- * DEGS1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for DEGS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DEGS1
-
Santa Cruz Biotechnology (SCBT) CRISPR for DEGS1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DEGS1
- Browse OriGene Inhibitory RNA Products For DEGS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEGS1
Clone products for research
- Applied Biological Materials (abm): Clones for DEGS1 - Starting at $45 >
- * DEGS1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for DEGS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DEGS1
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||
| SP2: | |||||||||||||||
| SP3: | - | - | - | - | |||||||||||
| SP4: |
Relevant External Links for DEGS1 Gene
- GeneLoc Exon Structure for
- DEGS1
Expression for DEGS1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
-
Kidney (Urinary System)
- Podocytes Podocyte Layer
- Metanephros
-
Epithelial Cells
- Podocytes Podocyte Layer
- Gut Tube (Gastrointestinal Tract)
- Eye (Sensory Organs)
-
Prostate (Endocrine System)
-
Placenta (Extraembryonic Tissues)
-
Thyroid (Endocrine System)
-
Fibroblasts (Uncategorized)
-
Esophagus (Gastrointestinal Tract)
mRNA differential expression in normal tissues according to GTEx for DEGS1 Gene
This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x7.1) and Skin - Not Sun Exposed (Suprapubic) (x6.6).
This gene is overexpressed in Breast (35.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DEGS1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DEGS1
SOURCE GeneReport for Unigene cluster for DEGS1 Gene:
Hs.299878mRNA Expression by UniProt/SwissProt for DEGS1 Gene:
O15121-DEGS1_HUMAN
Tissue specificity:
Ubiquitous.
Evidence on tissue expression from TISSUES for DEGS1 Gene
- Lung(4.4)
- Nervous system(4.2)
- Skin(3.2)
- Muscle(2.4)
- Kidney(2.3)
- Heart(2.3)
- Intestine(2.3)
- Liver(2.3)
- Adrenal gland(2.1)
- Thyroid gland(2)
- Blood(2)
Primer products for research
-
OriGene qPCR primer pairs for DEGS1
-
OriGene qPCR primer pairs and template standards for DEGS1
Gene Expression Assays for research
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DEGS1 Gene
Orthologs for DEGS1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | DEGS1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | DEGS1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | DEGS1 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | DEGS1 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Degs1 30 17 31 |
|
OneToMany | |
| 9130409I23Rik 31 |
|
OneToMany | |||
| Oppossum (Monodelphis domestica) |
Mammalia | DEGS1 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Degs1 30 |
|
||
| Chicken (Gallus gallus) |
Aves | DEGS1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | DEGS1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | degs1 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | degs-prov 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | degs1 30 31 |
|
OneToOne | |
| wufa25h01 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | ifc 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | ttm-5 31 |
|
ManyToMany | |
| F33D4.4 31 |
|
ManyToMany | |||
| Soybean (Glycine max) |
eudicotyledons | Gma.5077 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os.23411 30 |
|
||
| Corn (Zea mays) |
Liliopsida | Zm.1495 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.8632 30 |
|
- Species where no ortholog for DEGS1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for DEGS1 Gene
- ENSEMBL:
- Gene Tree for DEGS1 (if available)
- TreeFam:
- Gene Tree for DEGS1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for DEGS1: view image
Paralogs for DEGS1 Gene
Variants for DEGS1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DEGS1 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 985447 | Likely Pathogenic: Inborn genetic diseases | 224,190,243(+) |
A/AT NM_003676.4(DEGS1):c.752dup (p.Leu251fs) |
FRAMESHIFT | |
| rs1280845604 | Likely Pathogenic: Leukodystrophy, hypomyelinating, 18 | 224,189,831(+) |
A/G NM_003676.4(DEGS1):c.337A>G (p.Asn113Asp) |
MISSENSE | |
| rs1367958450 | Likely Pathogenic: Leukodystrophy, hypomyelinating, 18; Inborn genetic diseases | 224,189,891(+) |
C/T NM_003676.4(DEGS1):c.397C>T (p.Arg133Trp) |
MISSENSE | |
| rs1382083552 | Likely Pathogenic: Leukodystrophy, hypomyelinating, 18 | 224,189,814(+) |
G/A NM_003676.4(DEGS1):c.320G>A (p.Trp107Ter) |
NONSENSE | |
| rs138717762 | Benign: not provided | 224,189,687(+) |
G/A NM_003676.4(DEGS1):c.193G>A (p.Asp65Asn) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
46.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.09;
22.17% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for DEGS1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- DEGS1
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEGS1 Gene
Disorders for DEGS1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| leukodystrophy, hypomyelinating, 18 |
|
|
| leukodystrophy |
|
|
| hypomyelinating leukodystrophy |
|
|
| hereditary sensory and autonomic neuropathy type 1 |
|
|
| miller-dieker lissencephaly syndrome |
|
|
Search DEGS1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
DEGS1_HUMAN- Leukodystrophy, hypomyelinating, 18 (HLD18) [MIM:618404]: An autosomal recessive disorder characterized by hypomyelinating leukodystrophy with progressive atrophy of the corpus callosum, thalami and cerebellum, and peripheral neuropathy. Clinical features include very poor psychomotor development, dystonia, severe spasticity, seizures, and failure to thrive. {ECO:0000269 PubMed:30620337, ECO:0000269 PubMed:30620338, ECO:0000269 PubMed:31186544}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for DEGS1
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for DEGS1 Gene
Publications for DEGS1 Gene
- The product of the MLD gene is a member of the membrane fatty acid desaturase family: overexpression of MLD inhibits EGF receptor biosynthesis. (PMID: 9188692) Cadena DL … Gill GN (Biochemistry 1997) 2 3 4 23
- DEGS1 variant causes neurological disorder. (PMID: 31186544) Dolgin V … Birk OS (European journal of human genetics : EJHG 2019) 3 4 74
- Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy. (PMID: 30620337) Pant DC … Pujol A (The Journal of clinical investigation 2019) 3 4 74
- DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans. (PMID: 30620338) Karsai G … Kurth I (The Journal of clinical investigation 2019) 3 4 74
- Dihydroceramide desaturase activity is modulated by oxidative stress. (PMID: 20105137) Idkowiak-Baldys J … Hannun YA (The Biochemical journal 2010) 2 3 23
ExternalLinks
Products for DEGS1 Gene
- Custom Antibody ServicesOriGene Antibodies for DEGS1
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- VectorBuilder Custom and pre-made DNA vectors for DEGS1 (ie. gene expression, shRNA knockdown, CRISPR)
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- VectorBuilder Virus packaging for DEGS1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for DEGS1
- antibodies-online: Show 15 available DEGS1 Antibodies ranked by validation data
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- antibodies-online: Show 5 available DEGS1 Proteins ranked by validation data
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- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for DEGS1
- Search Santa Cruz Biotechnology (SCBT) for DEGS1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for DEGS1
- Custom Antibody ServicesProSci Antibodies for DEGS1
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- Horizon Cell Lines for DEGS1
- Browse GeneCopoeia Cell Lines
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEGS1
- Biorbyt antibodies for DEGS1
Sources for DEGS1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
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- (22) IntAct
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- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
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- (29) SOURCE
- (30) HomoloGene
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- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
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- (38) dbSNP
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- (44) Atlas
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- (50) miRBase
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- (55) TGDB
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- (57) Abcam
- (58) Novus Biologicals
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- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
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- (77) ESI-BIO
- (78) RefSeq
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- (104) diseasecard
- (105) NIH Rare Diseases
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