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POFUT2 protein O-fucosyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 23275, updated on 13-Mar-2020

Summary

Official Symbol
POFUT2provided by HGNC
Official Full Name
protein O-fucosyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:14683
See related
Ensembl:ENSG00000186866 MIM:610249
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FUT13; C21orf80
Summary
Fucose is typically found as a terminal modification of branched chain glycoconjugates, but it also exists in direct O-linkage to serine or threonine residues within cystine knot motifs in epidermal growth factor (EGF; MIM 131530)-like repeats or thrombospondin (THBS; see MIM 188060) type-1 repeats. POFUT2 is an O-fucosyltransferase that use THBS type-1 repeats as substrates (Luo et al., 2006 [PubMed 16464857]).[supplied by OMIM, Mar 2008]
Expression
Ubiquitous expression in testis (RPKM 7.6), placenta (RPKM 6.4) and 25 other tissues See more
Orthologs

Genomic context

See POFUT2 in Genome Data Viewer
Location:
21q22.3
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (45263928..45287914, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (46683843..46707811, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372835 Neighboring gene adenosine deaminase RNA specific B1 Neighboring gene long intergenic non-protein coding RNA 334 Neighboring gene long intergenic non-protein coding RNA 205 Neighboring gene uncharacterized LOC105372838

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
peptide-O-fucosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptide-O-fucosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
peptide-O-fucosyltransferase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
fucose metabolic process IEA
Inferred from Electronic Annotation
more info
 
mesoderm formation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein folding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein O-linked fucosylation IDA
Inferred from Direct Assay
more info
PubMed 
protein O-linked fucosylation TAS
Traceable Author Statement
more info
 
regulation of epithelial to mesenchymal transition IEA
Inferred from Electronic Annotation
more info
 
regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
regulation of secretion IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
GDP-fucose protein O-fucosyltransferase 2
Names
O-FucT-2
peptide-O-fucosyltransferase 2
NP_056042.1
NP_598368.2
XP_006724044.1
XP_011527806.1
XP_011527809.1
XP_011527810.1
XP_011527811.1
XP_011527812.1
XP_011527813.1
XP_011527814.1
XP_011527815.1
XP_016883795.1
XP_016883796.1
XP_016883797.1
XP_016883798.1
XP_024307826.1
XP_024307827.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_015227.6NP_056042.1  GDP-fucose protein O-fucosyltransferase 2 isoform A precursor

    See identical proteins and their annotated locations for NP_056042.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform A.
    Source sequence(s)
    AJ302080, BC000626, BI560842, BX322557, CN429387
    Consensus CDS
    CCDS13721.1
    UniProtKB/Swiss-Prot
    Q9Y2G5
    Related
    ENSP00000329682.7, ENST00000331343.11
    Conserved Domains (2) summary
    cd11298
    Location:45379
    O-FucT-2; GDP-fucose protein O-fucosyltransferase 2
    pfam10250
    Location:50379
    O-FucT; GDP-fucose protein O-fucosyltransferase
  2. NM_133635.6NP_598368.2  GDP-fucose protein O-fucosyltransferase 2 isoform C precursor

    See identical proteins and their annotated locations for NP_598368.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and coding region compared to variant 1. The resulting isoform (C) is longer and differs in the C-terminus compared to isoform A.
    Source sequence(s)
    AB023175, BC064623, BI560842, CA425603
    Consensus CDS
    CCDS13719.1
    UniProtKB/Swiss-Prot
    Q9Y2G5
    Related
    ENSP00000339613.5, ENST00000349485.9
    Conserved Domains (2) summary
    cd11298
    Location:45414
    O-FucT-2; GDP-fucose protein O-fucosyltransferase 2
    pfam10250
    Location:50408
    O-FucT; GDP-fucose protein O-fucosyltransferase

RNA

  1. NR_004858.3 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding region, compared to variant 1. TThis variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AJ302079, BI560842, CA425603
    Related
    ENST00000334538.13
  2. NR_148026.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    BF509463, BX322557, HY006370

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    45263928..45287914 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529504.3XP_011527806.1  GDP-fucose protein O-fucosyltransferase 2 isoform X3

    Conserved Domains (2) summary
    cd11298
    Location:45479
    O-FucT-2; GDP-fucose protein O-fucosyltransferase 2
    pfam10250
    Location:50473
    O-FucT; GDP-fucose protein O-fucosyltransferase
  2. XM_011529507.3XP_011527809.1  GDP-fucose protein O-fucosyltransferase 2 isoform X5

    Conserved Domains (2) summary
    cd11298
    Location:45424
    O-FucT-2; GDP-fucose protein O-fucosyltransferase 2
    pfam10250
    Location:50418
    O-FucT; GDP-fucose protein O-fucosyltransferase
  3. XM_017028306.2XP_016883795.1  GDP-fucose protein O-fucosyltransferase 2 isoform X6

  4. XM_006723981.4XP_006724044.1  GDP-fucose protein O-fucosyltransferase 2 isoform X4

    Conserved Domains (2) summary
    cd11298
    Location:45434
    O-FucT-2; GDP-fucose protein O-fucosyltransferase 2
    pfam10250
    Location:50428
    O-FucT; GDP-fucose protein O-fucosyltransferase
  5. XM_024452058.1XP_024307826.1  GDP-fucose protein O-fucosyltransferase 2 isoform X1

    Conserved Domains (1) summary
    cd11298
    Location:45495
    O-FucT-2; GDP-fucose protein O-fucosyltransferase 2
  6. XM_011529510.2XP_011527812.1  GDP-fucose protein O-fucosyltransferase 2 isoform X10

    Conserved Domains (2) summary
    cd11298
    Location:12252
    O-FucT-2; GDP-fucose protein O-fucosyltransferase 2
    pfam10250
    Location:40246
    O-FucT; GDP-fucose protein O-fucosyltransferase
  7. XM_017028309.1XP_016883798.1  GDP-fucose protein O-fucosyltransferase 2 isoform X14

  8. XM_024452059.1XP_024307827.1  GDP-fucose protein O-fucosyltransferase 2 isoform X2

    Conserved Domains (1) summary
    cd11298
    Location:45460
    O-FucT-2; GDP-fucose protein O-fucosyltransferase 2
  9. XM_011529508.3XP_011527810.1  GDP-fucose protein O-fucosyltransferase 2 isoform X7

    Conserved Domains (2) summary
    cd11298
    Location:45342
    O-FucT-2; GDP-fucose protein O-fucosyltransferase 2
    pfam10250
    Location:50325
    O-FucT; GDP-fucose protein O-fucosyltransferase
  10. XM_011529509.3XP_011527811.1  GDP-fucose protein O-fucosyltransferase 2 isoform X8

    Conserved Domains (1) summary
    cl16914
    Location:45301
    O-FucT_like; GDP-fucose protein O-fucosyltransferase and related proteins
  11. XM_011529511.3XP_011527813.1  GDP-fucose protein O-fucosyltransferase 2 isoform X11

    See identical proteins and their annotated locations for XP_011527813.1

    Conserved Domains (1) summary
    cl16914
    Location:45196
    O-FucT_like; GDP-fucose protein O-fucosyltransferase and related proteins
  12. XM_017028307.2XP_016883796.1  GDP-fucose protein O-fucosyltransferase 2 isoform X9

  13. XM_011529512.3XP_011527814.1  GDP-fucose protein O-fucosyltransferase 2 isoform X11

    See identical proteins and their annotated locations for XP_011527814.1

    Conserved Domains (1) summary
    cl16914
    Location:45196
    O-FucT_like; GDP-fucose protein O-fucosyltransferase and related proteins
  14. XM_017028308.2XP_016883797.1  GDP-fucose protein O-fucosyltransferase 2 isoform X12

  15. XM_011529513.3XP_011527815.1  GDP-fucose protein O-fucosyltransferase 2 isoform X13

    See identical proteins and their annotated locations for XP_011527815.1

    UniProtKB/TrEMBL
    S6FW71
    Related
    ENSP00000478168.1, ENST00000612472.4
    Conserved Domains (1) summary
    cl16914
    Location:45195
    O-FucT_like; GDP-fucose protein O-fucosyltransferase and related proteins

RNA

  1. XR_002958590.1 RNA Sequence

  2. XR_937454.2 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_133634.3: Suppressed sequence

    Description
    NM_133634.3: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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