MBNL2_HUMAN - PTM Information in dbPTM

Basic Information of Protein

• UniProt ID: MBNL2_HUMAN
• UniProt AC: Q5VZF2
• Protein Name: Muscleblind-like protein 2
• Gene Name: MBNL2
• Organism: Homo sapiens (Human).
• Sequence Length: 373
• Subcellular Localization: Nucleus . Cytoplasm . Greater concentration in the nucleus. Expressed in or near large cytoplasmic adhesion plaques (PubMed:16273094). Location in the cytoplasm is microtubule-dependent (PubMed:16273094). In both DM1 and DM2 patients, colocalizes wit
• Protein Description: Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. RNA-binding protein that binds to 5'ACACCC-3' core sequence, termed zipcode, within the 3'UTR of ITGA3. Binds to CUG triplet repeat expansion in myotonic dystrophy muscle cells by sequestering the target RNAs. Seems to regulate expression and localization of ITGA3 by transporting it from the nucleus to cytoplasm at adhesion plaques. May play a role in myotonic dystrophy pathophysiology (DM)..
• Protein Sequence: MALNVAPVRDTKWLTLEVCRQFQRGTCSRSDEECKFAHPPKSCQVENGRVIACFDSLKGRCSRENCKYLHPPTHLKTQLEINGRNNLIQQKTAAAMLAQQMQFMFPGTPLHPVPTFPVGPAIGTNTAISFAPYLAPVTPGVGLVPTEILPTTPVIVPGSPPVTVPGSTATQKLLRTDKLEVCREFQRGNCARGETDCRFAHPADSTMIDTSDNTVTVCMDYIKGRCMREKCKYFHPPAHLQAKIKAAQHQANQAAVAAQAAAAAATVMAFPPGALHPLPKRQALEKSNGTSAVFNPSVLHYQQALTSAQLQQHAAFIPTGSVLCMTPATSIDNSEIISRNGMECQESALRITKHCYCTYYPVSSSIELPQTAC

Overview of Protein Modification Sites with Functional and Structural Information

Experimental Post-Translational Modification Sites

* ASA = Accessible Surface Area

Locations	Modification	Substrate Peptides & Secondary Structure	ASA (%)	Reference
12	Ubiquitination	VAPVRDTKWLTLEVC CCCCCCCCEEEHHHH	44.49	-
41	Ubiquitination	CKFAHPPKSCQVENG CCCCCCCCCCEEECC	69.21	-
56	Phosphorylation	RVIACFDSLKGRCSR EEEEEECCCCCCCCC	16.24	27499020
58	Ubiquitination	IACFDSLKGRCSREN EEEECCCCCCCCCCC	48.54	2190698
58	Acetylation	IACFDSLKGRCSREN EEEECCCCCCCCCCC	48.54	25953088
58 (in isoform 1)	Ubiquitination	-	48.54	21906983
58 (in isoform 2)	Ubiquitination	-	48.54	21906983
58 (in isoform 3)	Ubiquitination	-	48.54	21906983
159	Phosphorylation	TPVIVPGSPPVTVPG CCEECCCCCCCCCCC	21.69	26657352
170	Phosphorylation	TVPGSTATQKLLRTD CCCCCHHHHHHHHCC	26.73	24275569
243	Ubiquitination	PPAHLQAKIKAAQHQ CCHHHHHHHHHHHHH	31.60	-
243	Malonylation	PPAHLQAKIKAAQHQ CCHHHHHHHHHHHHH	31.60	26320211
352	Phosphorylation	QESALRITKHCYCTY HHHHHHHCCCEEECE	14.33	-
371	Phosphorylation	SSIELPQTAC----- CCEECCCCCC-----	28.22	-

Upstream regulatory proteins (kinases for phosphorylation sites, E3 ubiquitin ligases of ubiquitination sites, ...)

Oops, there are no upstream regulatory protein records of MBNL2_HUMAN !!

Functions of PTM Sites

Oops, there are no descriptions of PTM sites of MBNL2_HUMAN !!

Disease-associated PTM Sites based on SAP

* Distance = the distance between SAP position and PTM sites.

Oops, there are no SNP-PTM records of MBNL2_HUMAN !!

Protein-Protein Interaction

Interacting Protein	Gene Name	Interaction Type	PPI Reference
ACOX1_HUMAN	ACOX1	physical	26186194
ACOX1_HUMAN	ACOX1	physical	28514442

Drug and Disease Associations

• Kegg Disease
• There are no disease associations of PTM sites.
• OMIM Disease
• There are no disease associations of PTM sites.
• Kegg Drug
• There are no disease associations of PTM sites.
• DrugBank
• There are no disease associations of PTM sites.