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This gene encodes a member of the glycosyltransferase O-Fuc family. This enzyme adds O-fucose through an O-glycosidic linkage to conserved serine or threonine residues in the epidermal growth factor-like repeats of a number of cell surface and secreted proteins. O-fucose glycans are involved in ligand-induced receptor signaling. Alternative splicing of this gene results in two ... See more...
Aliases for POFUT1 Gene
Aliases for POFUT1 Gene
External Ids for POFUT1 Gene
- HGNC: 14988
- NCBI Entrez Gene: 23509
- Ensembl: ENSG00000101346
- OMIM®: 607491
- UniProtKB/Swiss-Prot: Q9H488
Previous GeneCards Identifiers for POFUT1 Gene
- GC20P030583
- GC20P031493
- GC20P031540
- GC20P030259
- GC20P030795
- GC20P027584
Summaries for POFUT1 Gene
-
This gene encodes a member of the glycosyltransferase O-Fuc family. This enzyme adds O-fucose through an O-glycosidic linkage to conserved serine or threonine residues in the epidermal growth factor-like repeats of a number of cell surface and secreted proteins. O-fucose glycans are involved in ligand-induced receptor signaling. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
GeneCards Summary for POFUT1 Gene
POFUT1 (Protein O-Fucosyltransferase 1) is a Protein Coding gene. Diseases associated with POFUT1 include Dowling-Degos Disease 2 and Dowling-Degos Disease. Among its related pathways are Pre-NOTCH Expression and Processing and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include fucosyltransferase activity and peptide-O-fucosyltransferase activity.
UniProtKB/Swiss-Prot Summary for POFUT1 Gene
-
Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue found in the consensus sequence C2-X(4,5)-[S/T]-C3 of EGF domains, where C2 and C3 are the second and third conserved cysteines. Specifically uses GDP-fucose as donor substrate and proper disulfide pairing of the substrate EGF domains is required for fucose transfer. Plays a crucial role in NOTCH signaling. Initial fucosylation of NOTCH by POFUT1 generates a substrate for FRINGE/RFNG, an acetylglucosaminyltransferase that can then extend the fucosylation on the NOTCH EGF repeats. This extended fucosylation is required for optimal ligand binding and canonical NOTCH signaling induced by DLL1 or JAGGED1. Fucosylates AGRN and determines its ability to cluster acetylcholine receptors (AChRs).
Additional gene information for POFUT1 Gene
- HGNC (14988)
- NCBI Entrez Gene (23509)
- Ensembl (ENSG00000101346)
- OMIM® (607491)
- UniProtKB/Swiss-Prot (Q9H488)
- Open Targets Platform(ENSG00000101346)
- Monarch Initiative
- Alliance of Genome Resources
- Search for POFUT1 at DataMed
- Search for POFUT1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POFUT1 Gene
Genomics for POFUT1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for POFUT1 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 POFUT1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POFUT1
- Top Transcription factor binding sites by QIAGEN in the POFUT1 gene promoter:
-
- AhR
- c-Myc
- COUP
- COUP-TF
- COUP-TF1
- CUTL1
- HNF-4alpha1
- HNF-4alpha2
- Max
- RORalpha2
Genomic Locations for POFUT1 Gene
Latest Assembly
- chr20:32,207,880-32,238,658
- (GRCh38/hg38)
- Size:
- 30,779 bases
- Orientation:
- Plus strand
Previous Assembly
- chr20:30,795,683-30,826,461
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 30,779 bases
- Orientation:
- Plus strand
Genomic View for POFUT1 Gene
Genes around POFUT1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20q11.21 by HGNC
- 20q11.21 by Entrez Gene
- 20q11.21 by Ensembl
POFUT1 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 POFUT1 Gene
Proteins for POFUT1 Gene
-
Protein details for POFUT1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9H488-OFUT1_HUMAN
- Recommended name:
- GDP-fucose protein O-fucosyltransferase 1
- Protein Accession:
- Q9H488
- A8K4R8
- E1P5M4
- Q14685
- Q5W185
- Q9BW76
Protein attributes for POFUT1 Gene
- Size:
- 388 amino acids
- Molecular mass:
- 43956 Da
- Quaternary structure:
- No Data Available
Protein Expression for POFUT1 Gene
Selected DME Specific Peptides for POFUT1 Gene
- Q9H488:
-
- SLEDFME
- CPCMGRFGNQ
- GNPFGPFWD
Post-translational modifications for POFUT1 Gene
Other Protein References for POFUT1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotagā¢ POFUT1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for POFUT1
- Novus Biologicals Antibodies for POFUT1
-
Abcam antibodies for POFUT1
- Invitrogen Antibodies for POFUT1 (AFLGC-POFUT1)
-
Boster Bio Antibodies for POFUT1
-
Custom Antibody ServicesProSci Antibodies for POFUT1
-
Santa Cruz Biotechnology (SCBT) Antibodies for POFUT1
- Sino Biological Antibodies for POFUT1
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for POFUT1
- Origene Custom Protein Services for POFUT1
- ProSpec Recombinant Proteins for POFUT1
-
Abcam proteins for POFUT1
Assay products for research
- antibodies-online: Show 8 available POFUT1 Elisa Kits ranked by validation data
- Compare Top POFUT1 Elisa Kits
-
Quality Products:
Domains & Families for POFUT1 Gene
Gene Families for POFUT1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for POFUT1 Gene
- InterPro:
Suggested Antigen Peptide Sequences for POFUT1 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ50232, highly similar to GDP-fucose protein O-fucosyltransferase 1 (EC 2.4.1.221) (B4DUV4_HUMAN)
- Peptide-O-fucosyltransferase 1 (OFUT1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9H488- Family:
-
- Belongs to the glycosyltransferase 65 family.
Function for POFUT1 Gene
Molecular function for POFUT1 Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue found in the consensus sequence C2-X(4,5)-[S/T]-C3 of EGF domains, where C2 and C3 are the second and third conserved cysteines. Specifically uses GDP-fucose as donor substrate and proper disulfide pairing of the substrate EGF domains is required for fucose transfer. Plays a crucial role in NOTCH signaling. Initial fucosylation of NOTCH by POFUT1 generates a substrate for FRINGE/RFNG, an acetylglucosaminyltransferase that can then extend the fucosylation on the NOTCH EGF repeats. This extended fucosylation is required for optimal ligand binding and canonical NOTCH signaling induced by DLL1 or JAGGED1. Fucosylates AGRN and determines its ability to cluster acetylcholine receptors (AChRs).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=Transfers an alpha-L-fucosyl residue from GDP-beta-L-fucose to the serine hydroxy group of a protein acceptor.; EC=2.4.1.221; Evidence={ECO:0000269|PubMed:11524432};.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=6 uM for F7 EGF domain {ECO:0000269|PubMed:11524432}; KM=4 uM for GDP-fucose {ECO:0000269|PubMed:11524432}; Vmax=3 umol/min/mg enzyme {ECO:0000269|PubMed:11524432};
Enzyme Numbers (IUBMB) for POFUT1 Gene
Phenotypes From GWAS Catalog for POFUT1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0008417 | fucosyltransferase activity | IDA | 9023546 |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
| GO:0046922 | peptide-O-fucosyltransferase activity | TAS | 11698403 |
Phenotypes for POFUT1 Gene
- MGI mutant phenotypes for POFUT1:
-
inferred from 5 alleles
- nervous system phenotype
- muscle phenotype
- growth/size/body region phenotype
- cardiovascular system phenotype
- immune system phenotype
- respiratory system phenotype
- mortality/aging
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- integument phenotype
- embryo phenotype
- GenomeRNAi human phenotypes for POFUT1:
-
- Decreased NF-kappaB reporter expression
- shRNA abundance <= 50%
- Increased shRNA abundance (Z-score > 2)
- Reduced mammosphere formation
- no effect
- Dynamic nuclei (hole, folded or small irregular)
- Decreased vaccinia virus (VACV) infection
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Synthetic lethal with Ras
- Increased gamma-H2AX phosphorylation
- Decreased homologous recombination repair frequency
- Decreased shRNA abundance (Z-score < -2)
- Low eccentricity cells
- Increased shRNA abundance with PLX4720
Animal Models for POFUT1 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for POFUT1 - Starting at $85 >
- * POFUT1 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 POFUT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for POFUT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for POFUT1
miRNA for POFUT1 Gene
- miRTarBase miRNAs that target POFUT1
-
- mmu-miR-362-5p (MIRT008917)
- mmu-miR-15a-5p (MIRT011776)
- mmu-miR-149-5p (MIRT014588)
- hsa-miR-124-3p (MIRT022339)
- hsa-miR-122-5p (MIRT023228)
- hsa-miR-148a-3p (MIRT025975)
- hsa-miR-16-5p (MIRT031483)
- hsa-miR-92b-3p (MIRT040628)
- mmu-miR-34a-5p (MIRT054302)
- mmu-miR-34b-5p (MIRT054303)
- mmu-miR-34c-5p (MIRT054304)
- hsa-miR-17-5p (MIRT152672)
- hsa-miR-20a-5p (MIRT152673)
- hsa-miR-93-5p (MIRT152674)
- hsa-miR-106b-5p (MIRT152682)
- hsa-miR-20b-5p (MIRT152686)
- hsa-miR-519d-3p (MIRT152692)
- hsa-miR-126-5p (MIRT235592)
- hsa-miR-4433a-3p (MIRT235593)
- hsa-miR-4459 (MIRT235594)
- hsa-miR-4768-3p (MIRT235595)
- hsa-miR-4311 (MIRT295737)
- hsa-miR-6770-5p (MIRT295738)
- hsa-miR-5706 (MIRT445557)
- hsa-miR-4782-5p (MIRT445559)
- hsa-miR-3191-5p (MIRT445560)
- hsa-miR-6868-3p (MIRT445561)
- hsa-miR-1255b-5p (MIRT445562)
- hsa-miR-1255a (MIRT445563)
- hsa-miR-6744-5p (MIRT445564)
- hsa-miR-3188 (MIRT445565)
- hsa-miR-6884-5p (MIRT445566)
- hsa-miR-485-5p (MIRT445567)
- hsa-miR-2467-5p (MIRT445568)
- hsa-miR-3975 (MIRT445569)
- hsa-miR-942-5p (MIRT445570)
- hsa-miR-6839-5p (MIRT445571)
- hsa-miR-378j (MIRT445572)
- hsa-miR-6824-3p (MIRT445573)
- hsa-miR-6764-3p (MIRT445574)
- hsa-miR-330-5p (MIRT445575)
- hsa-miR-326 (MIRT445576)
- hsa-miR-518c-5p (MIRT445577)
- hsa-miR-1248 (MIRT445578)
- hsa-miR-1237-3p (MIRT445580)
- hsa-miR-4477a (MIRT470724)
- hsa-miR-4518 (MIRT470725)
- hsa-miR-1266-5p (MIRT470726)
- hsa-miR-3664-3p (MIRT470727)
- hsa-miR-509-5p (MIRT470728)
- hsa-miR-509-3-5p (MIRT470729)
- hsa-miR-4418 (MIRT470730)
- hsa-miR-548av-3p (MIRT470731)
- hsa-miR-5582-3p (MIRT470732)
- hsa-miR-548f-3p (MIRT470733)
- hsa-miR-548e-3p (MIRT470734)
- hsa-miR-548az-3p (MIRT470735)
- hsa-miR-548ar-3p (MIRT470736)
- hsa-miR-548a-3p (MIRT470737)
- hsa-miR-3180-5p (MIRT498273)
- hsa-miR-665 (MIRT498274)
- hsa-miR-4756-5p (MIRT498275)
- hsa-miR-4739 (MIRT498276)
- hsa-miR-4753-5p (MIRT498277)
- hsa-miR-1321 (MIRT498278)
- hsa-miR-6768-3p (MIRT498279)
- hsa-miR-502-5p (MIRT506115)
- hsa-miR-143-5p (MIRT506116)
- hsa-miR-3944-5p (MIRT506117)
- hsa-miR-298 (MIRT506118)
- hsa-miR-2277-3p (MIRT506119)
- mmu-miR-669f-3p (MIRT581721)
- mmu-miR-466n-3p (MIRT581722)
- mmu-miR-669m-3p (MIRT581723)
- mmu-miR-466a-3p (MIRT581724)
- mmu-miR-297b-3p (MIRT581725)
- mmu-miR-466d-3p (MIRT581726)
- mmu-miR-466e-3p (MIRT581727)
- mmu-miR-467g (MIRT581728)
- mmu-miR-1b-5p (MIRT581729)
- mmu-miR-466o-3p (MIRT581730)
- mmu-miR-466m-3p (MIRT581731)
- mmu-miR-466f-3p (MIRT581732)
- mmu-miR-466i-3p (MIRT581733)
- mmu-miR-362-3p (MIRT581734)
- mmu-miR-329-3p (MIRT581735)
- mmu-miR-466b-3p (MIRT589226)
- mmu-miR-466c-3p (MIRT589227)
- mmu-miR-466p-3p (MIRT589228)
- mmu-miR-665-3p (MIRT597752)
- mmu-miR-3089-5p (MIRT597753)
- hsa-miR-498 (MIRT625805)
- hsa-miR-4279 (MIRT625806)
- hsa-miR-1976 (MIRT625807)
- hsa-miR-3653-5p (MIRT625808)
- hsa-miR-4726-3p (MIRT625809)
- hsa-miR-6764-5p (MIRT625810)
- hsa-miR-1915-3p (MIRT625811)
- hsa-miR-6840-3p (MIRT625812)
- hsa-miR-1306-5p (MIRT625813)
- hsa-miR-129-5p (MIRT625814)
- hsa-miR-6885-3p (MIRT625815)
- hsa-miR-6083 (MIRT625816)
- hsa-miR-6772-3p (MIRT625817)
- hsa-miR-150-5p (MIRT625818)
- hsa-miR-186-3p (MIRT625819)
- hsa-miR-642a-5p (MIRT654935)
- hsa-miR-2276-5p (MIRT654936)
- hsa-miR-6892-3p (MIRT654937)
- hsa-miR-6777-3p (MIRT654938)
- hsa-miR-3121-3p (MIRT654939)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for POFUT1
- Browse OriGene Inhibitory RNA Products For POFUT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POFUT1
Clone products for research
- Applied Biological Materials (abm): Clones for POFUT1 - Starting at $45 >
- * POFUT1 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 POFUT1
- Addgene plasmids for POFUT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for POFUT1
Cell Lines for research
-
Horizon Cell Lines for POFUT1
No data available for Transcription Factor Targets and HOMER Transcription for POFUT1 Gene
Localization for POFUT1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for POFUT1 Gene
- Endoplasmic reticulum.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| extracellular | 3 |
| golgi apparatus | 3 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| nucleus | 2 |
| mitochondrion | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| peroxisome | 0 |
- Centrosome (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005783 | endoplasmic reticulum | IEA,IDA | 15653671 |
| GO:0016020 | membrane | IDA | 9023546 |
Pathways & Interactions for POFUT1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Pre-NOTCH Expression and Processing | ||
| 2 | Mucin type O-glycan biosynthesis | ||
| 3 | Notch Signaling Pathway (WikiPathways) | ||
| 4 | Notch Signaling Pathway (sino) | ||
| 5 | Signaling by GPCR | ||
Pathways by source for POFUT1 Gene
1 Sino Biological pathway for POFUT1 Gene
4 Reactome pathways for POFUT1 Gene
1 KEGG pathway for POFUT1 Gene
1 R&D Systems pathway for POFUT1 Gene
UniProtKB/Swiss-Prot Q9H488-OFUT1_HUMAN
- Pathway: Protein modification; protein glycosylation.
Interacting Proteins for POFUT1 Gene
GPS-Prot Interaction Network for POFUT1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001525 | angiogenesis | IEA | -- |
| GO:0001756 | somitogenesis | IEA | -- |
| GO:0005975 | carbohydrate metabolic process | IEA | -- |
| GO:0006004 | fucose metabolic process | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | NAS | 11698403 |
Transcripts for POFUT1 Gene
mRNA/cDNA for POFUT1 Gene
- 2 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000375730 1507 nts (view in UCSC)
- ENST00000375749 5226 nts (view in UCSC)
- ENST00000434904 493 nts (view in UCSC)
- ENST00000465791 768 nts (view in UCSC)
- ENST00000486717 959 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for POFUT1 - Starting at $85 >
- * POFUT1 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 POFUT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for POFUT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for POFUT1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for POFUT1
- Browse OriGene Inhibitory RNA Products For POFUT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POFUT1
Clone products for research
- Applied Biological Materials (abm): Clones for POFUT1 - Starting at $45 >
- * POFUT1 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 POFUT1
- Addgene plasmids for POFUT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for POFUT1
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||
| SP4: | - | - |
Relevant External Links for POFUT1 Gene
- GeneLoc Exon Structure for
- POFUT1
Expression for POFUT1 Gene
This gene is overexpressed in Liver (8.6) and Fetal testis (6.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for POFUT1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POFUT1
SOURCE GeneReport for Unigene cluster for POFUT1 Gene:
Hs.472409mRNA Expression by UniProt/SwissProt for POFUT1 Gene:
Q9H488-OFUT1_HUMAN
Tissue specificity:
Highly expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
Evidence on tissue expression from TISSUES for POFUT1 Gene
- Nervous system(4.6)
- Liver(4.4)
- Heart(4.4)
- Bone marrow(4.3)
- Lung(2.5)
- Intestine(2.4)
Phenotype-based relationships between genes and organs from Gene ORGANizer for POFUT1 Gene
Germ Layers:
- ectoderm
Systems:
- integumentary
- nervous
Regions:
Head and neck:
- eye
- eyelid
General:
- skin
Primer products for research
-
OriGene qPCR primer pairs for POFUT1
-
OriGene qPCR primer pairs and template standards for POFUT1
Gene Expression Assays for research
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for POFUT1 Gene
Orthologs for POFUT1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ptr-mir-1825 30 |
|
OneToOne | |
| POFUT1 29 |
|
||||
| Cow (Bos Taurus) |
Mammalia | POFUT1 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | POFUT1 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Pofut1 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Pofut1 29 16 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | POFUT1 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | POFUT1 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | POFUT1 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | POFUT1 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pofut1 29 |
|
||
| Str.6855 29 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | pofut1 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | pofut1 29 30 |
|
OneToOne | |
| Dr.15162 29 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.7311 29 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | O-fut1 29 30 31 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011338 29 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | C15C7.7 29 30 |
|
OneToOne | |
| C15C7.1 31 |
|
|
|||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7678 30 |
|
OneToOne | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.11245 29 |
|
- Species where no ortholog for POFUT1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- Corn (Zea mays)
- 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)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- 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 POFUT1 Gene
- ENSEMBL:
- Gene Tree for POFUT1 (if available)
- TreeFam:
- Gene Tree for POFUT1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for POFUT1: view image
- Alliance of Genome Resources:
- Additional Orthologs for POFUT1
Paralogs for POFUT1 Gene
No data available for Paralogs for POFUT1 Gene
Variants for POFUT1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POFUT1 Gene
| SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1046967 | Uncertain Significance: Dowling-Degos disease 2 | 32,230,867(+) |
A/G NM_015352.2(POFUT1):c.784A>G (p.Met262Val) |
MISSENSE | |
| 940614 | Uncertain Significance: Dowling-Degos disease 2 | 32,228,357(+) |
G/C NM_015352.2(POFUT1):c.637G>C (p.Val213Leu) |
MISSENSE | |
| rs113552438 | Benign: not provided | 32,210,093(+) |
T/C NM_015352.2(POFUT1):c.147T>C (p.Asp49=) |
SYNONYMOUS | |
| rs139014980 | Likely Benign: not provided | 32,216,732(+) |
G/T NM_015352.2(POFUT1):c.542+11G>T |
INTRON | |
| rs1569152303 | Pathogenic: Dowling-Degos disease 2 | 32,215,311(+) |
C/T NM_015352.2(POFUT1):c.289C>T (p.Gln97Ter) |
NONSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
27.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.14;
51.43% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for POFUT1 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POFUT1 Gene
Disorders for POFUT1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| dowling-degos disease 2 |
|
|
| dowling-degos disease |
|
|
| reticulate acropigmentation of kitamura |
|
|
| spondylocostal dysostosis 3, autosomal recessive |
|
|
| pigmentation disease |
|
|
Search POFUT1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
OFUT1_HUMAN- Dowling-Degos disease 2 (DDD2) [MIM:615327]: An autosomal dominant genodermatosis. Affected individuals develop a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. {ECO:0000269 PubMed:23684010}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for POFUT1
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for POFUT1 Gene
Publications for POFUT1 Gene
- Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. (PMID: 23684010) Li M ā¦ Yao Z (American journal of human genetics 2013) 3 4 72
- Modification of epidermal growth factor-like repeats with O-fucose. Molecular cloning and expression of a novel GDP-fucose protein O-fucosyltransferase. (PMID: 11524432) Wang Y ā¦ Haltiwanger RS (The Journal of biological chemistry 2001) 3 4 22
- Structure of human POFUT1, its requirement in ligand-independent oncogenic Notch signaling, and functional effects of Dowling-Degos mutations. (PMID: 28334865) McMillan BJ ā¦ Blacklow SC (Glycobiology 2017) 3 4
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE ā¦ Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
- O-fucosylation of notch occurs in the endoplasmic reticulum. (PMID: 15653671) Luo Y ā¦ Haltiwanger RS (The Journal of biological chemistry 2005) 3 22
ExternalLinks
Products for POFUT1 Gene
- Custom Antibody ServicesOriGene Antibodies for POFUT1
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- Novus Biologicals proteins and lysates for POFUT1
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- antibodies-online: Show 19 available POFUT1 Antibodies ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for POFUT1
- Search Santa Cruz Biotechnology (SCBT) for POFUT1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for POFUT1
- Custom Antibody ServicesProSci Antibodies for POFUT1
- Search for POFUT1 Proteins at ProSci
- Horizon Cell Lines for POFUT1
- Browse GeneCopoeia Cell Lines
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- Boster Bio Antibodies for POFUT1
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Sources for POFUT1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59)