MBNL2_PONAB
ID MBNL2_PONAB Reviewed; 373 AA.
AC Q5R4F5; Q5R7C8; Q5RBH5; Q5RCK3;
DT 06-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 06-FEB-2007, sequence version 2.
DT 03-AUG-2022, entry version 78.
DE RecName: Full=Muscleblind-like protein 2;
GN Name=MBNL2;
OS Pongo abelii (Sumatran orangutan) (Pongo pygmaeus abelii).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Pongo.
OX NCBI_TaxID=9601;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3).
RC TISSUE=Brain cortex, and Kidney;
RG The German cDNA consortium;
RL Submitted (NOV-2004) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: Mediates pre-mRNA alternative splicing regulation. Acts
CC either as activator or repressor of splicing on specific pre-mRNA
CC targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion
CC but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle.
CC Antagonizes the alternative splicing activity pattern of CELF proteins.
CC RNA-binding protein that binds to 5'ACACCC-3' core sequence, termed
CC zipcode, within the 3'UTR of ITGA3. Binds to CUG triplet repeat
CC expansion in myotonic dystrophy muscle cells by sequestering the target
CC RNAs. Seems to regulate expression and localization of ITGA3 by
CC transporting it from the nucleus to cytoplasm at adhesion plaques. May
CC play a role in myotonic dystrophy pathophysiology (DM) (By similarity).
CC {ECO:0000250}.
CC -!- SUBUNIT: Interacts with ITGA3. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q5VZF2}. Cytoplasm
CC {ECO:0000250|UniProtKB:Q5VZF2}. Note=Greater concentration in the
CC nucleus. Expressed in or near large cytoplasmic adhesion plaques.
CC Location in the cytoplasm is microtubule-dependent.
CC {ECO:0000250|UniProtKB:Q5VZF2}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q5R4F5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5R4F5-2; Sequence=VSP_022892;
CC Name=3;
CC IsoId=Q5R4F5-3; Sequence=VSP_022892, VSP_022893;
CC -!- SIMILARITY: Belongs to the muscleblind family. {ECO:0000305}.
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DR EMBL; CR858267; CAH90504.1; -; mRNA.
DR EMBL; CR858673; CAH90885.1; -; mRNA.
DR EMBL; CR860190; CAH92332.1; -; mRNA.
DR EMBL; CR861294; CAH93361.1; -; mRNA.
DR RefSeq; NP_001126370.1; NM_001132898.1.
DR RefSeq; NP_001128790.1; NM_001135318.1.
DR AlphaFoldDB; Q5R4F5; -.
DR SMR; Q5R4F5; -.
DR STRING; 9601.ENSPPYP00000006216; -.
DR PRIDE; Q5R4F5; -.
DR Ensembl; ENSPPYT00000006462; ENSPPYP00000006216; ENSPPYG00000005456. [Q5R4F5-1]
DR GeneID; 100173351; -.
DR KEGG; pon:100173351; -.
DR CTD; 10150; -.
DR eggNOG; KOG2494; Eukaryota.
DR GeneTree; ENSGT00950000182897; -.
DR InParanoid; Q5R4F5; -.
DR OrthoDB; 1543798at2759; -.
DR Proteomes; UP000001595; Chromosome 13.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0003723; F:RNA binding; IEA:UniProtKB-KW.
DR GO; GO:0006397; P:mRNA processing; IEA:UniProtKB-KW.
DR GO; GO:0043484; P:regulation of RNA splicing; ISS:UniProtKB.
DR GO; GO:0008380; P:RNA splicing; IEA:UniProtKB-KW.
DR InterPro; IPR000571; Znf_CCCH.
DR Pfam; PF00642; zf-CCCH; 2.
DR SMART; SM00356; ZnF_C3H1; 4.
DR PROSITE; PS50103; ZF_C3H1; 4.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cytoplasm; Metal-binding; mRNA processing;
KW mRNA splicing; Nucleus; Reference proteome; Repeat; RNA-binding; Zinc;
KW Zinc-finger.
FT CHAIN 1..373
FT /note="Muscleblind-like protein 2"
FT /id="PRO_0000274874"
FT ZN_FING 13..41
FT /note="C3H1-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00723"
FT ZN_FING 47..73
FT /note="C3H1-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00723"
FT ZN_FING 176..204
FT /note="C3H1-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00723"
FT ZN_FING 212..238
FT /note="C3H1-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00723"
FT VAR_SEQ 268
FT /note="M -> MTQSTAKAMKRPLEATVNL (in isoform 2 and isoform
FT 3)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_022892"
FT VAR_SEQ 320..331
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_022893"
FT CONFLICT 13
FT /note="W -> G (in Ref. 1; CAH92332)"
FT /evidence="ECO:0000305"
FT CONFLICT 54
FT /note="F -> S (in Ref. 1; CAH90885)"
FT /evidence="ECO:0000305"
FT CONFLICT 155
FT /note="I -> V (in Ref. 1; CAH93361)"
FT /evidence="ECO:0000305"
FT CONFLICT 290
FT /note="T -> I (in Ref. 1; CAH90504)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 373 AA; 40518 MW; 8FC6D5C150781277 CRC64;
MALNVAPVRD TKWLTLEVCR QFQRGTCSRS DEECKFAHPP KSCQVENGRV IACFDSLKGR
CSRENCKYLH PPTHLKTQLE INGRNNLIQQ KTAAAMLAQQ MQFMFPGTPL HPVPTFPVGP
AIGTNTAISF APYLAPVTPG VGLVPTEILP TTPVIVPGSP PVTVPGSTAT QKLLRTDKLE
VCREFQRGNC ARGETDCRFA HPADSTMIDT SDNTVTVCMD YIKGRCMREK CKYFHPPAHL
QAKIKAAQHQ ANQAAVAAQA AAAAATVMAF PPGALHPLPK RQALEKSNGT SAVFNPSVLH
YQQALTSAQL QQHAAFIPTG SVLCMTPATS IDNSEIISRN GMECQESALR ITKHCYCTYY
PVSSSIELPQ TAC
