Aliases for POFUT1 Gene
Aliases for POFUT1 Gene
External Ids for POFUT1 Gene
- HGNC: 14988
- Entrez Gene: 23509
- Ensembl: ENSG00000101346
- OMIM: 607491
- UniProtKB: 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 Notch Signaling Pathway (sino) and Other types of O-glycan biosynthesis. Gene Ontology (GO) annotations related to this gene include fucosyltransferase activity and peptide-O-fucosyltransferase activity.
UniProtKB/Swiss-Prot 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
- Monarch Initiative
- Search for POFUT1 at DataMed
- Search for POFUT1 at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POFUT1 Gene
Genomics for POFUT1 Gene
GeneHancer (GH) Regulatory Elements for POFUT1 Gene
Promoters and enhancers for POFUT1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around POFUT1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the POFUT1 gene promoter:
Regulatory Element Products
Genomic Locations for POFUT1 Gene
Genomic Locations for POFUT1 Gene
- chr20:32,207,822-32,238,667
- (GRCh38/hg38)
- Size:
- 30,846 bases
- Orientation:
- Plus strand
- chr20:30,795,683-30,826,470
- (GRCh37/hg19)
Genomic View for POFUT1 Gene
Genes around POFUT1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20q11.21 by Ensembl
- 20q11.21 by Entrez Gene
- 20q11.21 by HGNC
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
- N-glycosylated.
- Glycosylation at isoforms=262 and Asn160
- Modification sites at PhosphoSitePlus
Other Protein References for POFUT1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for POFUT1
- Novus Biologicals Antibodies for POFUT1
-
Abcam antibodies for POFUT1
-
Cloud-Clone Corp. Antibodies for POFUT1
- Invitrogen Antibodies for POFUT1
- GeneTex POFUT1 antibody for POFUT1
-
Custom Antibody ServicesProSci Antibodies for POFUT1
-
Santa Cruz Biotechnology (SCBT) Antibodies for POFUT1
Protein Products
- R&D Systems Proteins and Enzymes for POFUT1 (Protein O-Fucosyltransferase 1/POFUT1)
-
OriGene Purified Proteins for POFUT1
- Search Origene for MassSpec and Protein Over-expression Lysates for POFUT1
- Origene Custom Protein Services for POFUT1
- ProSpec Recombinant Proteins for POFUT1
-
Cloud-Clone Corp. Proteins for POFUT1
- Search GeneTex for Proteins for POFUT1
-
Abcam proteins for POFUT1
Assay Products
Domains & Families for POFUT1 Gene
Gene Families for POFUT1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted secreted proteins
Protein Domains for POFUT1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for POFUT1 Gene
- GenScript: Design optimal peptide antigens:
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 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};
- UniProtKB/Swiss-Prot CatalyticActivity:
- Transfers an alpha-L-fucosyl residue from GDP-beta-L-fucose to the serine hydroxy group of a protein acceptor.
- 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).
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
- respiratory system phenotype
- muscle phenotype
- cardiovascular system phenotype
- mortality/aging
- immune system phenotype
- growth/size/body region phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- integument phenotype
- embryo phenotype
- skeleton phenotype
- limbs/digits/tail phenotype
- GenomeRNAi human phenotypes for POFUT1:
-
- Increased vaccinia virus (VACV) infection
- Increased gamma-H2AX phosphorylation
- shRNA abundance <= 50%
- Synthetic lethal with Ras
- Lamellipodia cells
- Decreased shRNA abundance (Z-score < -2)
- Dynamic nuclei (hole, folded or small irregular)
- Decreased NF-kappaB reporter expression
- Increased shRNA abundance (Z-score > 2)
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Decreased homologous recombination repair frequency
- Increased shRNA abundance with PLX4720
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for POFUT1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for POFUT1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for POFUT1 gene
- Search ViGene Biosciences for POFUT1
CRISPR Products
-
OriGene CRISPR knockouts for POFUT1
- genomics-online: gRNA clones - Search results for 107 available POFUT1 gene related products
- Overview of 107 available POFUT1 gene related products
- Applied Biological Materials CRISPR for POFUT1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for POFUT1
- GenScript: Design CRISPR guide RNA sequences for POFUT1
miRNA for POFUT1 Gene
- miRTarBase miRNAs that target POFUT1
-
- 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)
- 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)
- 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
- Search ViGene Biosciences for POFUT1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for POFUT1
- Browse OriGene Inhibitory RNA Products For POFUT1
- genomics-online: shRNA clones - Search results for 107 available POFUT1 gene related products
- Overview of 107 available POFUT1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for POFUT1 gene
Clone Products
- Sino Biological Human cDNA Clone for POFUT1
- VectorBuilder custom plasmid, inducible vectors for POFUT1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for POFUT1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for POFUT1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for POFUT1
-
ViGene Biosciences adenoviral particle packaged cDNA for POFUT1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for POFUT1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for POFUT1 gene
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 |
| cytoskeleton | 2 |
| peroxisome | 1 |
| lysosome | 1 |
- Centrosome (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005783 | endoplasmic reticulum | IDA,IEA | 15653671 |
| GO:0016020 | membrane | IDA | 9023546 |
Pathways & Interactions for POFUT1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Pre-NOTCH Expression and Processing | ||
| 2 | Other types of O-glycan biosynthesis | ||
| 3 | Notch signaling pathway (KEGG) | ||
| 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
| 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 :
- (9) Additional mRNA sequences :
- (256) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for POFUT1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for POFUT1
- genomics-online: gRNA clones - Search results for 107 available POFUT1 gene related products
- Overview of 107 available POFUT1 gene related products
- Applied Biological Materials CRISPR for POFUT1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for POFUT1
- GenScript: Design CRISPR guide RNA sequences for POFUT1
miRNA Products
- Search ViGene Biosciences for POFUT1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for POFUT1
- Browse OriGene Inhibitory RNA Products For POFUT1
- genomics-online: shRNA clones - Search results for 107 available POFUT1 gene related products
- Overview of 107 available POFUT1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for POFUT1 gene
Clone Products
- Sino Biological Human cDNA Clone for POFUT1
- VectorBuilder custom plasmid, inducible vectors for POFUT1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for POFUT1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for POFUT1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||
| SP4: | - | - |
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, PaxDb, MaxQB, and MOPED for POFUT1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of POFUT1 Gene:
POFUT1SOURCE 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(4.5)
- Liver(4.3)
- Heart(4.2)
- Bone marrow(4.1)
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
-
OriGene qPCR primer pairs for POFUT1
-
OriGene qPCR primer pairs and template standards for POFUT1
Gene Expression Assay Products
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 34 |
|
OneToOne | |
| POFUT1 33 |
|
||||
| cow (Bos Taurus) |
Mammalia | POFUT1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | POFUT1 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pofut1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Pofut1 33 16 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | POFUT1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | POFUT1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | POFUT1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | POFUT1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pofut1 33 |
|
||
| Str.6855 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | pofut1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pofut1 33 34 |
|
||
| Dr.15162 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.7311 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | O-fut1 35 33 34 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011338 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | C15C7.7 33 34 |
|
||
| C15C7.1 35 |
|
|
|||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.7678 34 |
|
OneToOne | |
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.11245 33 |
|
- Species where no ortholog for POFUT1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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)
Paralogs for POFUT1 Gene
No data available for Paralogs for POFUT1 Gene
Variants for POFUT1 Gene
| SNP ID | Clin | Chr 20 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs17268666 | benign, Dowling-Degos disease 2 | 32,231,047(+) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
| rs398123038 | pathogenic, Dowling-Degos disease 2 | 32,216,609(+) | G/T | coding_sequence_variant, non_coding_transcript_variant, stop_gained | |
| rs6579005 | benign, Dowling-Degos disease 2 | 32,228,308(+) | A/G | coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant | |
| rs886041033 | pathogenic, Dowling-Degos disease 2 | 32,216,660(+) | AA/A | coding_sequence_variant, frameshift, non_coding_transcript_variant | |
| rs139014980 | likely-benign, not provided | 32,216,732(+) | G/A/C/T | intron_variant |
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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POFUT1 Gene
Disorders for POFUT1 Gene
(4) MalaCards diseases for POFUT1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| dowling-degos disease 2 |
|
|
| dowling-degos disease |
|
|
| reticulate acropigmentation of kitamura |
|
|
| 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 mutations affecting the gene represented in this entry.
Additional Disease Information for POFUT1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for POFUT1 Gene
Publications for POFUT1 Gene
- 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 … Haltiwanger RS (The Journal of biological chemistry 2001) 3 4 22 58
- Structure of human POFUT1, its requirement in ligand-independent oncogenic Notch signaling, and functional effects of Dowling-Degos mutations. (PMID: 28334865) McMillan BJ … Blacklow SC (Glycobiology 2017) 3 4 58
- Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. (PMID: 23684010) Li M … Yao Z (American journal of human genetics 2013) 3 4 58
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
- O-fucosylation of notch occurs in the endoplasmic reticulum. (PMID: 15653671) Luo Y … Haltiwanger RS (The Journal of biological chemistry 2005) 3 22 58
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Sources for POFUT1 Gene
- (1) GeneCards
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