Q9NS23

PTMD Annotation Information


※ Protein Information

Tag Content
UniProt Accession RASF1_HUMAN; Q9NS23;
Entrez ID 11186
GenBank Protein ID NM_001206957.1; NM_007182.4; NM_170712.2; NM_170713.2; NM_170714.1; XM_011533315.1; XM_011533316.2;
GenBank Nucleotide ID NP_001193886.1; NP_009113.3; NP_733830.1; NP_733831.1; NP_733832.1; XP_011531617.1; XP_011531618.1;
Protein Name Ras association domain-containing protein 1
Gene Name RASSF1; RDA32
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionPotential tumor suppressor. Required for death receptor-dependent apoptosis. Mediates activation of STK3/MST2 and STK4/MST1 during Fas-induced apoptosis by preventing their dephosphorylation. When associated with MOAP1, promotes BAX conformational change and translocation to mitochondrial membranes in response to TNF and TNFSF10 stimulation. Isoform A interacts with CDC20, an activator of the anaphase-promoting complex, APC, resulting in the inhibition of APC activity and mitotic progression. Inhibits proliferation by negatively regulating cell cycle progression at the level of G1/S-phase transition by regulating accumulation of cyclin D1 protein. Isoform C has been shown not to perform these roles, no function has been identified for this isoform. Isoform A disrupts interactions among MDM2, DAXX and USP7, thus contributing to the efficient activation of TP53 by promoting MDM2 self-ubiquitination in cell-cycle checkpoint control in response to DNA damage.
Sequence
(Fasta)
MSGEPELIEL RELAPAGRAG KGRTRLERAN ALRIARGTAC NPTRQLVPGR GHRFQPAGPA 60
THTWCDLCGD FIWGVVRKGL QCARLSADCK FTCHYRCRAL VCLDCCGPRD LGWEPAVERD 120
TNVDEPVEWE TPDLSQAEIE QKIKEYNAQI NSNLFMSLNK DGSYTGFIKV QLKLVRPVSV 180
PSSKKPPSLQ DARRGPGRGT SVRRRTSFYL PKDAVKHLHV LSRTRAREVI EALLRKFLVV 240
DDPRKFALFE RAERHGQVYL RKLLDDEQPL RLRLLAGPSD KALSFVLKEN DSGEVNWDAF 300
SMPELHNFLR ILQREEEEHL RQILQKYSYC RQKIQEALHA CPLG 345

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1MethylationHepatoblastoma tumorsP23989600
[Reference]: We confirmed that RASSF1A methylation is a significant prognostic indicator in hepatoblastomas,
2MethylationGastric cancerP24513424
[Reference]: We demonstrated PIK3CA gene was specifically amplified in gastric cancers, but not in normal gastric tissues. Moreover, frequent methylation of RASSF1A and PAX6 was also found in gastric cancers
3MethylationEndometrial cancer/carcinomaU24464006
[Reference]: We found a statistically significant increase of methylation of the RASSF1 gene in endometrial cancer compared to simplex
4Lysine MethylationBreast cancer/tumor/carcinomaMDA-MB-231 cell linePK18523251702
[Reference]: RASSF1A expression and apoptosis in MDA-MB-231 cells, suggesting that DNA and protein demethylation may act together to control these molecular and cellular processes

※ Disease Cross-ref Annotation

DatabaseAnnotation
CTD (Curated)
(count: 12)
(view all)
MESH:D000230 ; Adenocarcinoma
MESH:D002312 ; Cardiomyopathy, Hypertrophic
MESH:D015212 ; Inflammatory Bowel Diseases
MESH:D008175 ; Lung Neoplasms
MESH:D015674 ; Mammary Neoplasms, Animal
MESH:D008527 ; Medulloblastoma
DisGeNet (Curated)
(count: 14)
(view all)
C0001418; Adenocarcinoma
C0005686; Urinary Bladder Diseases
C0005695; Bladder Neoplasm
C0007120; Bronchioloalveolar Adenocarcinoma
C0007131; Non-Small Cell Lung Carcinoma
C0007194; Hypertrophic Cardiomyopathy
HGMD
(count: 1)
CM063088; Lung cancer, increased risk, association with; Missense/nonsense

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 14)
(view all)
135       EWETPDLSQAEIEQK     dbPAF
179       LKLVRPVSVPSSKKP     dbPAF
182       VRPVSVPSSKKPPSL     dbPAF
183       RPVSVPSSKKPPSLQ     dbPAF
188       PSSKKPPSLQDARRG     dbPAF
2         ******MSGEPELIE     dbPAF
Ubiquitination
(count: 7)
(view all)
144       AEIEQKIKEYNAQIN     PLMD
160       NLFMSLNKDGSYTGF     PLMD
216       YLPKDAVKHLHVLSR     PLMD
236       VIEALLRKFLVVDDP     PLMD
262       HGQVYLRKLLDDEQP     PLMD
281       LLAGPSDKALSFVLK     PLMD

※ Protein-Protein Interaction

NetworkInteraction
ABSource