HPRP18 is a 342 amino acid protein that localizes to nuclear speckles and plays a role in the second step of pre-mRNA splicing. A member of the PRP18 family, PRPF18 contains seven WD repeats and exists as two alternatively spliced isoforms which are encoded by a gene located on human chromosome 10p13. Chromosome 10 contains over 800 genes and 135 million nucleotides. PTEN is an important tumor suppressor gene located on chromosome 10 and, when defective, causes a genetic predisposition to cancer development known as Cowden syndrome. Other chromosome 10 associated disorders include Cockayne syndrome, tetrahydrobiopterin deficiency and trisomy 10.
Function:
May be required for pre-mRNA splicing.
Subcellular Location:
Nucleus.
Similarity:
Belongs to the PRP38 family.
SWISS:
Q8NAV1
Gene ID:
84950
Database links:
Entrez Gene: 101091130 Cat
Entrez Gene: 456858 Chimpanzee
Entrez Gene: 50748 Cow
Entrez Gene: 475350 Dog
Entrez Gene: 101137881 Gorilla
Entrez Gene: 100050749 Horse
Entrez Gene: 84950 Human
Entrez Gene: 230596 Mouse
Entrez Gene: 100171974 Orangutan
Entrez Gene: 100520571 Pig
Entrez Gene: 100356051 Rabbit
Entrez Gene: 101115326 Sheep
Entrez Gene: 432312 Xenopus laevis
Entrez Gene: 549894 Xenopus tropicalis
SwissProt: Q0P5I6 Cow
SwissProt: Q8NAV1 Human
SwissProt: Q4FK66 Mouse
SwissProt: Q5RDD2 Orangutan
SwissProt: Q4FZQ6 Xenopus laevis
SwissProt: Q28H87 Xenopus tropicalis
Unigene: 5301 Human
Unigene: 157534 Mouse
Unigene: 413915 Mouse
Unigene: 54468 Xenopus laevis
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