QuickView for MBNL1 (gene)

Gene Symbol:

MBNL1 Homo sapiens

Full name:

muscleblind like splicing regulator 1

Synonyms:

EXP, MBNL, muscleblind-like protein 1, muscleblind-like, triplet-expansion RNA-binding protein

Genomic Location:

Chr 3: 153468519-153666259

Description:

This gene encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in ...

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This gene encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Mice lacking this gene exhibited muscle abnormalities and cataracts. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. The different isoforms are thought to have different binding specificities and/or splicing activities.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Danio rerio ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGGAAA_NFAT_Q4_01 ,  POU6F1_01 ,  GATTGGY_NFY_Q6_01 ,  ACAACTT_MIR382 ,  RTAAACA_FREAC2_01 ,  GTATTAT_MIR3693P ,  ATAAGCT_MIR21 ,  GTGCCAT_MIR183 ,  TTTGCAC_MIR19A_MIR19B ,  SMTTTTGT_UNKNOWN ,  GTGTTGA_MIR505 ,  STAT4_01 ,  CEBPA_01 ,  GATA1_03 ,  ZIC1_01 ,  RYTTCCTG_ETS2_B ,  ARNT_01 ,  OCT1_04 ,  AAAGGGA_MIR204_MIR211 ,  GATA3_01 ,  AP3_Q6 ,  FOXO4_01 ,  CACGTG_MYC_Q2 ,  SRF_Q6 ,  STAT6_02 ,  ATTACAT_MIR3803P ,  NKX3A_01 ,  CTACTGT_MIR199A ,  GCANCTGNY_MYOD_Q6 ,  NFY_C ,  AAANWWTGC_UNKNOWN ,  CTTTGCA_MIR527 ,  CIZ_01 ,  GTGACTT_MIR224 ,  EVI1_04 ,  CEBP_Q2_01 ,  IPF1_Q4 ,  HP1SITEFACTOR_Q6 ,  CAGTGTT_MIR141_MIR200A ,  WGTTNNNNNAAA_UNKNOWN ,  MEIS1BHOXA9_01 ,  GTACTGT_MIR101 ,  CAGCACT_MIR5123P ,  TTGCACT_MIR130A_MIR301_MIR130B ,  HNF1_C ,  CTTTGA_LEF1_Q2 ,  IRF1_Q6 ,  GTGCAAA_MIR507 ,  PBX1_01 ,  WHN_B ,  COMP1_01 ,  ATF_B ,  CREBP1_Q2 ,  AR_Q6 ,  MYCMAX_02 ,  CEBPDELTA_Q6 ,  CEBPB_01 ,  CDP_02 ,  DBP_Q6 ,  TGCAAAC_MIR452 ,  PAX2_01 ,  CATTTCA_MIR203 ,  FOXO3_01 ,  CAGGTA_AREB6_01 ,  GTGACGY_E4F1_Q6 ,  GGCAGAC_MIR346 ,  ATF_01 ,  P53_02 ,  CDX2_Q5 ,  GR_Q6 ,  LHX3_01 ,  ZID_01 ,  EVI1_05 ,  RRAGTTGT_UNKNOWN ,  ATTCTTT_MIR186 ,  ATGCTGC_MIR103_MIR107 ,  NF1_Q6 ,  ATF3_Q6 ,  ACCAAAG_MIR9 ,  CDPCR1_01 ,  ATGTTAA_MIR302C ,  AAGGGAT_MIR188 ,  CEBPB_02 ,  SRF_Q4 ,  LMO2COM_02 ,  OCT1_03 ,  S8_01 ,  MGGAAGTG_GABP_B ,  NFY_Q6 ,  TACGGGT_MIR99A_MIR100_MIR99B ,  PAX6_01 ,  GCM_Q2 ,  TGCCAAR_NF1_Q6 ,  NF1_Q6_01 ,  GATA1_02 ,  OCT1_06 ,  HMEF2_Q6 ,  AHRARNT_01 ,  CAGTCAC_MIR134 ,  GFI1_01 ,  HMGIY_Q6 ,  OCT1_02 ,  FREAC2_01 ,  HAND1E47_01 ,  TAATTA_CHX10_01 ,  CHOP_01 ,  GATA4_Q3 ,  STAT5A_04 ,  WWTAAGGC_UNKNOWN ,  YTAATTAA_LHX3_01 ,  TGCTTTG_MIR330 ,  PAX_Q6 ,  TGCACTT_MIR519C_MIR519B_MIR519A ,  SRF_Q5_01 ,  TGACAGNY_MEIS1_01 ,  CAGCTG_AP4_Q5 ,  SMAD_Q6 ,  CDC5_01 ,  BRN2_01 ,  AACTTT_UNKNOWN ,  TGACATY_UNKNOWN ,  CCAWWNAAGG_SRF_Q4 ,  ACCATTT_MIR522 ,  HNF6_Q6 ,  SRF_C ,  GGGTGGRR_PAX4_03 ,  CCTNTMAGA_UNKNOWN ,  AAGCACA_MIR218 ,  STAT5A_02

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-99 ,  Predicted Gene Targets for miR-101 ,  Predicted Gene Targets for miR-103 ,  Predicted Gene Targets for miR-122a ,  Predicted Gene Targets for miR-129 ,  Predicted Gene Targets for miR-130 ,  Predicted Gene Targets for miR-134 ,  Predicted Gene Targets for miR-144 ,  Predicted Gene Targets for miR-150 ,  Predicted Gene Targets for miR-183 ,  Predicted Gene Targets for miR-186 ,  Predicted Gene Targets for miR-19 ,  Predicted Gene Targets for miR-141 ,  Predicted Gene Targets for miR-200b ,  Predicted Gene Targets for miR-204 ,  Predicted Gene Targets for miR-21 ,  Predicted Gene Targets for miR-218 ,  Predicted Gene Targets for miR-223 ,  Predicted Gene Targets for miR-224 ,  Predicted Gene Targets for miR-299 ,  Predicted Gene Targets for miR-328 ,  Predicted Gene Targets for miR-330 ,  Predicted Gene Targets for miR-335 ,  Predicted Gene Targets for miR-346 ,  Predicted Gene Targets for miR-369-3p ,  Predicted Gene Targets for miR-382 ,  Predicted Gene Targets for miR-433-3p ,  Predicted Gene Targets for miR-9 ,  Predicted Gene Targets for miR-188 ,  Predicted Gene Targets for miR-203 ,  Predicted Gene Targets for miR-363 ,  Predicted Gene Targets for miR-375 ,  Predicted Gene Targets for miR-452 ,  Predicted Gene Targets for miR-495 ,  Predicted Gene Targets for miR-505 ,  Predicted Gene Targets for miR-543

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Cytogenetic Map:

3q25.1-q25.2

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