[FUT7] The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of sialyl-Lewis X antigens. The encoded protein can direct the synthesis of the E-selectin-binding sialyl-Lewis X moiety. [provided by RefSeq].
RefSeq annotates 2 representative transcripts from 2 genes that we see as a complex (NM included in AceView variants .d and .e), but Homo sapiens cDNA sequences in GenBank, dbEST, Trace and SRA, filtered against clone rearrangements, coaligned on the genome and clustered in a minimal non-redundant way by the manually supervised AceView program, support at least 17 spliced variants
AceView synopsis, each blue text links to tables and details
Note that this locus is complex: it appears to produce several proteins with no sequence overlap, and it merges 2 different NCBI genes.
According to AceView, this gene is expressed at very high level
, 5.2 times the average gene in this release. The sequence
of this gene is defined by 593 GenBank accessions
from 549 cDNA clones, some from brain (seen 93 times), pancreas (31), prostate (28), hippocampus (25), uterus (25), testis normal (23), lung (21) and 149 other tissues
. We annotate structural defects or features
in 15 cDNA clones.
Alternative mRNA variants and regulation:
The gene contains 17 distinct gt-ag introns
. Transcription produces 22 different mRNAs
, 17 alternatively spliced variants and 5 unspliced forms. There are 4 probable alternative promotors
, 6 non overlapping alternative last exons and 4 validated alternative polyadenylation sites
(see the diagram
). The mRNAs appear to differ by truncation of the 5' end, truncation of the 3' end, presence or absence of 2 cassette exons
, overlapping exons with different boundaries, splicing versus retention of 6 introns. 1405 bp of this gene are antisense to spliced gene C9orf139
, raising the possibility of regulated alternate expression.
2 variants were isolated in vivo
, despite the fact that they are predicted targets of nonsense mediated mRNA decay
Efficacy of translation may be reduced by the presence of a shorter translated product (uORF
) initiating at an AUG upstream of the main open reading frame (in variant dAug10).
There are 31 articles
specifically referring to this gene in PubMed. Functionally, the gene has been tested for association to diseases
(Burkitt lymphoma; Cell Transformation, Neoplastic; Hypertension; Leukemia, Promyelocytic, Acute; Pancreatic Neoplasms) and proposed to participate in pathway
(Glycosphingolipid biosynthesis - lacto and neolacto series). Proteins are expected to have molecular function
(transferase activity, transferring glycosyl groups) and to localize
in various compartments (Golgi membrane, nuclear membrane, Golgi cisterna membrane, integral to membrane). Putative protein interactors
have been described (CCND1, CCND2, CCND3, CDK2, E2F1, HNRNPK, KRTAP4-12, MADD, MDFI, NPDC1ANDFUT7, PLSCR1, TFDP1, TLR10).
Protein coding potential:
16 spliced and 3 unspliced mRNAs putatively encode good proteins
, altogether 19 different isoforms (11 complete, 4 COOH complete, 4 partial
), some containing domains
Glycosyltransferase family 10 (fucosyltransferase), Neural proliferation differentiation control-1 protein (NPDC1) [Pfam], some transmembrane domains, a prenylation domain [Psort2]
. The remaining 3 mRNA variants (1 spliced, 2 unspliced; 1 partial) appear not to encode good proteins.
2 isoforms are annotated using as Met a Kozak-compatible
non-AUG start, thereby gaining a minimum of 122 amino acids N-terminal to the first AUG. Finally proteins from this gene may be modulated by phosphorylation; ubiquitination
, as detailed at PhosphoSite.
Please quote: AceView: a comprehensive cDNA-supported gene and transcripts annotation, Genome Biology 2006, 7(Suppl 1):S12
Map on chromosome 9, links to other databases and other names
This gene NPDC1andFUT7 maps on chromosome 9, at 9q34.3 according to Entrez Gene. In AceView, it covers 16.52 kb
, from 139941150 to 139924626 (NCBI 37, August 2010), on the reverse strand.
, manual annotations from GAD
, the SNP
view, gene overviews from Entrez Gene 2529
, expression data from ECgene
, UniGene Hs.457
, molecular and other annotations from UCSC
, or our GOLD
The previous AceView annotation is here
The gene is also known as NPDC1andFUT7, FucT-VII, RP11-229P13.1, CAB, CAB-, CAB1, CAB-1, DKFZp586J0523, FUT7, NPDC1 or LOC2529, LOC56654. It has been described as alpha-(1,3)-fucosyltransferase, fuc-TVII, fucosyltransferase VII, selectin ligand synthase, selectin-ligand synthase, galactoside 3-L-fucosyltransferase, neural proliferation differentiation and control protein 1, NPDC-1.
This gene encodes protein number: 2.4.1.-.
Closest AceView homologs in other species
The closest mouse gene
, according to BlastP, is the AceView gene Entpd2andNpdc1
The closest C.elegans gene
, according to BlastP, is the AceView/WormGene cab-1
(e=3 10^-06), which may contain interesting functional annotation.
The closest A.thaliana genes
, according to BlastP, are the AceView genes FUT12andAT1G49700
(e=2 10^-13), FUT11
(e=10^-11), which may contain interesting functional annotation
Alternative mRNAs are shown aligned from 5' to 3' on a virtual genome where introns have been shrunk to a minimal length. Exon size is proportional to length, intron height reflects the number of cDNAs supporting each intron. Introns of the same color are identical, of different colors are different. 'Good proteins' are pink, partial or not-good proteins are yellow, uORFs are green. 5' cap or3' poly A flags show completeness of the transcript.
Mouse over the ending of each transcript gives tissues from which the supporting cDNAs were extracted. Details on tissue of origin for each intron and exon is available from the intron and exons table
Click on any transcript to open the specific mRNA page, to see the exact cDNA clone support and eventual SNPs and to get details on tissues, sequences, mRNA and protein annotations. Proteins supported by a single continuous cDNA sequence lead to underlining the name/ending of the variant. Names not underlined result from cDNA concatenation in the coding region and should be experimentally checked.
are depicted by broken lines; the height of the top of each intron reflects the relative number of clones supporting this intron. ]^[ A pink broken line
denotes an intron with standard boundaries (gt-ag or gc-ag) that is exactly supported (i.e. a cDNA sequence exactly matches the genome over 16 bp, 8 on both sides of the intron). ] ^ ] A blue broken line
denotes non-standard introns, exactly supported, but with non-standard at-ac or any other boundaries. ]-[ Pink
and ] - ] blue
straight lines represent 'fuzzy' introns of the standard and non-standard types respectively, those introns do not follow the 16 bp rule. Black straight lines ]-[denote gaps in the alignments.
Wide filled pink areas represent putative protein coding regions, narrow empty pink boxes represent the 5'UTR (on the left) and 3' UTR (on the right). Flags identify validated endings: cap site on the 5' side, polyadenylation site on the 3' side. Filled flags correspond to frequent events while empty flags have lesser supporting cDNAs (yet all are validated); at the 3' side, black flags are associated to the main AATAAA signal, blue flags
to any single letter variant of the main . More explanations are given in the gene help file