POFUT1 | ENSG00000101346 | NCBI 23509

Details for: POFUT1

Gene ID: 23509

Symbol: POFUT1

Ensembl ID: ENSG00000101346

Description: protein O-fucosyltransferase 1

Associated with

Pre-notch expression and processing
(R-HSA-1912422)
Pre-notch processing in the endoplasmic reticulum
(R-HSA-1912399)
Signaling by notch
(R-HSA-157118)
Signal transduction
(R-HSA-162582)
Angiogenesis
(GO:0001525)
Endoplasmic reticulum
(GO:0005783)
Fucose metabolic process
(GO:0006004)
Fucosyltransferase activity
(GO:0008417)
Heart development
(GO:0007507)
Membrane
(GO:0016020)
Nervous system development
(GO:0007399)
Notch signaling pathway
(GO:0007219)
O-glycan processing
(GO:0016266)
Peptide-o-fucosyltransferase activity
(GO:0046922)
Protein o-linked fucosylation
(GO:0036066)
Protein o-linked glycosylation
(GO:0006493)
Regulation of dna-templated transcription
(GO:0006355)
Regulation of notch signaling pathway
(GO:0008593)
Somitogenesis
(GO:0001756)

Other Information

Proteins

GDP-fucose protein O-fucosyltransferase 1

Genular Protein ID: 3117264694

Symbol: OFUT1_HUMAN

Name: GDP-fucose protein O-fucosyltransferase 1

UniProtKB Accession Codes:

Q9H488 A8K4R8 E1P5M4 Q14685 Q5W185 Q9BW76

Database IDs:

Citations:

PubMed ID: 11524432

Title: Modification of epidermal growth factor-like repeats with O-fucose: molecular cloning and expression of a novel GDP-fucose protein O-fucosyltransferase.

PubMed ID: 11524432

DOI: 10.1074/jbc.m107849200

PubMed ID: 8724849

Title: Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1.

PubMed ID: 8724849

DOI: 10.1093/dnares/3.1.17

PubMed ID: 12168954

Title: Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.

PubMed ID: 12168954

DOI: 10.1093/dnares/9.3.99

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8358148

Title: O-linked fucose and other post-translational modifications unique to EGF modules.

PubMed ID: 8358148

DOI: 10.1093/glycob/3.3.219

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23684010

Title: Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease.

PubMed ID: 23684010

DOI: 10.1016/j.ajhg.2013.04.022

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 28334865

Title: Structure of human POFUT1, its requirement in ligand-independent oncogenic Notch signaling, and functional effects of Dowling-Degos mutations.

PubMed ID: 28334865

DOI: 10.1093/glycob/cwx020

Sequence Information:

Length: 388
Mass: 43956
Checksum: 3FACCCA434D02415
Sequence:

MGAAAWARPL SVSFLLLLLP LPGMPAGSWD PAGYLLYCPC MGRFGNQADH FLGSLAFAKL 
LNRTLAVPPW IEYQHHKPPF TNLHVSYQKY FKLEPLQAYH RVISLEDFME KLAPTHWPPE 
KRVAYCFEVA AQRSPDKKTC PMKEGNPFGP FWDQFHVSFN KSELFTGISF SASYREQWSQ 
RFSPKEHPVL ALPGAPAQFP VLEEHRPLQK YMVWSDEMVK TGEAQIHAHL VRPYVGIHLR 
IGSDWKNACA MLKDGTAGSH FMASPQCVGY SRSTAAPLTM TMCLPDLKEI QRAVKLWVRS 
LDAQSVYVAT DSESYVPELQ QLFKGKVKVV SLKPEVAQVD LYILGQADHF IGNCVSSFTA 
FVKRERDLQG RPSSFFGMDR PPKLRDEF

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: POFUT1

Associated with

Other Information

Modification of epidermal growth factor-like repeats with O-fucose: molecular cloning and expression of a novel GDP-fucose protein O-fucosyltransferase. PubMed ID: 11524432

Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1. PubMed ID: 8724849

Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. PubMed ID: 12168954

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The DNA sequence and comparative analysis of human chromosome 20. PubMed ID: 11780052

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

O-linked fucose and other post-translational modifications unique to EGF modules. PubMed ID: 8358148

Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. PubMed ID: 19159218

Initial characterization of the human central proteome. PubMed ID: 21269460

Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. PubMed ID: 23684010

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712

Structure of human POFUT1, its requirement in ligand-independent oncogenic Notch signaling, and functional effects of Dowling-Degos mutations. PubMed ID: 28334865