O43395

PTMD Annotation Information

※ Protein Information

Tag Content
UniProt Accession PRPF3_HUMAN; O43395;
Entrez ID 9129
GenBank Protein ID
GenBank Nucleotide ID
Protein Name U4/U6 small nuclear ribonucleoprotein Prp3 (Pre-mRNA-splicing factor 3) (hPrp3) (U4/U6 snRNP 90 kDa protein)
Gene Name PRPF3; HPRP3; PRP3
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionParticipates in pre-mRNA splicing. Part of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome.
Sequence
(Fasta)		MALSKRELDE LKPWIEKTVK RVLGFSEPTV VTAALNCVGK GMDKKKAADH LKPFLDDSTL 60
RFVDKLFEAV EEGRSSRHSK SSSDRSRKRE LKEVFGDDSE ISKESSGVKK RRIPRFEEVE 120
EEPEVIPGPP SESPGMLTKL QIKQMMEAAT RQIEERKKQL SFISPPTPQP KTPSSSQPER 180
LPIGNTIQPS QAATFMNDAI EKARKAAELQ ARIQAQLALK PGLIGNANMV GLANLHAMGI 240
APPKVELKDQ TKPTPLILDE QGRTVDATGK EIELTHRMPT LKANIRAVKR EQFKQQLKEK 300
PSEDMESNTF FDPRVSIAPS QRQRRTFKFH DKGKFEKIAQ RLRTKAQLEK LQAEISQAAR 360
KTGIHTSTRL ALIAPKKELK EGDIPEIEWW DSYIIPNGFD LTEENPKRED YFGITNLVEH 420
PAQLNPPVDN DTPVTLGVYL TKKEQKKLRR QTRREAQKEL QEKVRLGLMP PPEPKVRISN 480
LMRVLGTEAV QDPTKVEAHV RAQMAKRQKA HEEANAARKL TAEQRKVKKI KKLKEDISQG 540
VHISVYRVRN LSNPAKKFKI EANAGQLYLT GVVVLHKDVN VVVVEGGPKA QKKFKRLMLH 600
RIKWDEQTSN TKGDDDEESD EEAVKKTNKC VLVWEGTAKD RSFGEMKFKQ CPTENMAREH 660
FKKHGAEHYW DLALSESVLE STD 684

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1Threonine PhosphorylationAutosomal retinitis pigmentosaNT49417932117
[Reference]: Our findings provide new insights into the biology of Hprp3p and suggest that the loss of Hprp3p phosphorylation at Thr494 is a key step for initiating Thr494Met aberrant interactions within U4/U6 snRNP complex and that these are likely linked to the RP18 phenotype.

※ Disease Cross-ref Annotation

DatabaseAnnotation
CTD (Curated)
(count: 1)		MESH:C563320 ; Retinitis Pigmentosa 18
GWASdb
(count: 2)		rs11806171; Heart rate; heart conduction disease
rs11587682; Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined); autism spectrum disorder|attention deficit hyperactivity disorder|bipolar disorder|major depressive disorder|schizophrenia

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 24)
(view all)		 102       FGDDSEISKESSGVK     dbPAF
105       DSEISKESSGVKKRR     dbPAF
106       SEISKESSGVKKRRI     dbPAF
131       EVIPGPPSESPGMLT     dbPAF
133       IPGPPSESPGMLTKL     dbPAF
138       SESPGMLTKLQIKQM     dbPAF
Acetylation
(count: 11)
(view all)		 103       GDDSEISKESSGVKK     PLMD
12        KRELDELKPWIEKTV     PLMD
17        ELKPWIEKTVKRVLG     PLMD
220       IQAQLALKPGLIGNA     PLMD
252       VELKDQTKPTPLILD     PLMD
282       THRMPTLKANIRAVK     PLMD
Ubiquitination
(count: 23)
(view all)		 103       GDDSEISKESSGVKK     PLMD
139       ESPGMLTKLQIKQMM     PLMD
171       SPPTPQPKTPSSSQP     PLMD
202       FMNDAIEKARKAAEL     PLMD
205       DAIEKARKAAELQAR     PLMD
220       IQAQLALKPGLIGNA     PLMD
Sumoylation
(count: 6)		 139       ESPGMLTKLQIKQMM     PLMD
252       VELKDQTKPTPLILD     PLMD
270       RTVDATGKEIELTHR     PLMD
361       EISQAARKTGIHTST     PLMD
376       RLALIAPKKELKEGD     PLMD
442       TLGVYLTKKEQKKLR     PLMD
Glycation
(count: 2)		 205       DAIEKARKAAELQAR     PLMD
220       IQAQLALKPGLIGNA     PLMD
Malonylation
(count: 1)		 649       SFGEMKFKQCPTENM     PLMD