MUTYH-3 [nucleoplasm]

Stable Identifier
R-HSA-110197
Type
Genes and Transcripts [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Synonyms
MUTYH alpha-3 isoform, MYH glycosylase alpha-3 isoform
Locations in the PathwayBrowser
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General
This isoform of MUTYH uses exon 1-alpha and the exon 3 splice donor site variant-3. This is one of the most abundant MUTYH transcripts, while the transcripts that corresponds to the canonical UniProt sequence and to the longest NCBI transcript of MUTYH are rare or not present (Plotz et al. 2012).
Literature References
PubMed ID Title Journal Year
22473953 MUTYH gene expression and alternative splicing in controls and polyposis patients

Plotz, G, Casper, M, Raedle, J, Hinrichsen, I, Heckel, V, Brieger, A, Trojan, J, Zeuzem, S

Hum. Mutat. 2012
External Reference Information
External Reference
UniProt:Q9UIF7-3 MUTYH
Gene Names
MUTYH, MYH
Participates
as a member of
Other forms of this molecule
MUTYH-3 A359V [nucleoplasm]
MUTYH-3 R171W [nucleoplasm]
MUTYH-3 A359S [nucleoplasm]
MUTYH-3 R260W [nucleoplasm]
MUTYH-3 R231L [nucleoplasm]
MUTYH-3 P281L [nucleoplasm]
MUTYH-3 Y90* [nucleoplasm]
MUTYH-3 G382D [nucleoplasm]
MUTYH-3 Q324H [nucleoplasm]
MUTYH-3 R260Q [nucleoplasm]
MUTYH-3 E466* [nucleoplasm]
MUTYH-3 Y165C [nucleoplasm]
MUTYH-3 R231H [nucleoplasm]
MUTYH-3 W138_M139insIW [nucleoplasm]
MUTYH-3 A459D [nucleoplasm]
MUTYH-3 Q377* [nucleoplasm]
MUTYH-3 P391L [nucleoplasm]
MUTYH-3 E466del [nucleoplasm]
MUTYH-3 A368fs*26 [nucleoplasm]
MUTYH-3 R227W [nucleoplasm]
MUTYH-3 V232F [nucleoplasm]
MUTYH-3 Q324R [nucleoplasm]
MUTYH-3 G272E [nucleoplasm]
Inferred To
MUTYH [nucleoplasm] (Bos taurus)
MUTYH [nucleoplasm] (Canis familiaris)
MUTYH [nucleoplasm] (Gallus gallus)
MUTYH [nucleoplasm] (Sus scrofa)
MUTYH-3 [nucleoplasm] (Mus musculus)
MUTYH-3 [nucleoplasm] (Plasmodium falciparum)
MUTYH-3 [nucleoplasm] (Rattus norvegicus)
MUTYH-3 [nucleoplasm] (Schizosaccharomyces pombe)
mutyh [nucleoplasm] (Danio rerio)
mutyh [nucleoplasm] (Xenopus tropicalis)
MYH [nucleoplasm] (Dictyostelium discoideum)
Cross References
RefSeq
OpenTargets
ENSEMBL
GeneCards
HPA
PRO
Pharos - Targets
Orphanet
PDB
Interactors (1)
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