ENSG00000152601


Homo sapiens

Features
Gene ID: ENSG00000152601
  
Biological name :MBNL1
  
Synonyms : MBNL1 / muscleblind like splicing regulator 1 / Q9NR56
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: 1
Band: q25.1
Gene start: 152243828
Gene end: 152465780
  
Corresponding Affymetrix probe sets: 1555594_a_at (Human Genome U133 Plus 2.0 Array)   1558111_at (Human Genome U133 Plus 2.0 Array)   201151_s_at (Human Genome U133 Plus 2.0 Array)   201152_s_at (Human Genome U133 Plus 2.0 Array)   201153_s_at (Human Genome U133 Plus 2.0 Array)   215663_at (Human Genome U133 Plus 2.0 Array)   233015_at (Human Genome U133 Plus 2.0 Array)   235879_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000418876
Ensembl peptide - ENSP00000418508
Ensembl peptide - ENSP00000419347
Ensembl peptide - ENSP00000437491
Ensembl peptide - ENSP00000420680
Ensembl peptide - ENSP00000420327
Ensembl peptide - ENSP00000420103
Ensembl peptide - ENSP00000282486
Ensembl peptide - ENSP00000282488
Ensembl peptide - ENSP00000319374
Ensembl peptide - ENSP00000319429
Ensembl peptide - ENSP00000347637
Ensembl peptide - ENSP00000350064
Ensembl peptide - ENSP00000417169
Ensembl peptide - ENSP00000417630
Ensembl peptide - ENSP00000417741
Ensembl peptide - ENSP00000418108
Ensembl peptide - ENSP00000418109
Ensembl peptide - ENSP00000418427
NCBI entrez gene - 4154     See in Manteia.
OMIM - 606516
RefSeq - XM_017006443
RefSeq - XM_017006426
RefSeq - XM_017006427
RefSeq - XM_017006428
RefSeq - XM_017006429
RefSeq - XM_017006430
RefSeq - XM_017006431
RefSeq - XM_017006432
RefSeq - XM_017006433
RefSeq - XM_017006434
RefSeq - XM_017006435
RefSeq - XM_017006436
RefSeq - XM_017006437
RefSeq - XM_017006438
RefSeq - XM_017006439
RefSeq - XM_017006440
RefSeq - XM_017006441
RefSeq - XM_017006442
RefSeq - NM_001314057
RefSeq - NM_021038
RefSeq - NM_207292
RefSeq - NM_207293
RefSeq - NM_207294
RefSeq - NM_207295
RefSeq - NM_207296
RefSeq - NM_207297
RefSeq - XM_005247457
RefSeq - XM_005247458
RefSeq - XM_005247460
RefSeq - XM_005247461
RefSeq - XM_005247462
RefSeq - XM_005247463
RefSeq - XM_005247464
RefSeq - XM_005247465
RefSeq - XM_005247466
RefSeq - XM_005247467
RefSeq - XM_005247468
RefSeq - XM_005247471
RefSeq - XM_005247474
RefSeq - XM_005247475
RefSeq - XM_005247476
RefSeq - XM_005247477
RefSeq - XM_006713639
RefSeq - XM_011512843
RefSeq - XM_011512845
RefSeq - XM_011512846
RefSeq - XM_011512847
RefSeq - XM_011512848
RefSeq - XM_011512849
RefSeq - XM_017006423
RefSeq - XM_017006424
RefSeq - XM_017006425
RefSeq Peptide - NP_997175
RefSeq Peptide - NP_997176
RefSeq Peptide - NP_997177
RefSeq Peptide - NP_997178
RefSeq Peptide - NP_997179
RefSeq Peptide - NP_997180
RefSeq Peptide - NP_001300986
RefSeq Peptide - NP_066368
swissprot - Q9NR56
swissprot - A0A0A0MQX8
swissprot - C9JCX1
swissprot - C9J7P7
swissprot - C9J4T8
swissprot - H7C4T5
swissprot - H7C4Y1
swissprot - C9JP00
swissprot - Q86VM6
Ensembl - ENSG00000152601
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mbnl1ENSDARG00000052978Danio rerio
 MBNL1ENSGALG00000029190Gallus gallus
 Mbnl1ENSMUSG00000027763Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MBNL2 / Q5VZF2 / muscleblind like splicing regulator 2ENSG0000013979355
MBNL3 / Q9NUK0 / muscleblind like splicing regulator 3ENSG0000007677053


Protein motifs (from Interpro)
Interpro ID Name
 IPR000571  Zinc finger, CCCH-type
 IPR036855  Zinc finger, CCCH-type superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001701 in utero embryonic development ISS
 biological_processGO:0006397 mRNA processing IEA
 biological_processGO:0007399 nervous system development ISS
 biological_processGO:0008380 RNA splicing IEA
 biological_processGO:0030326 embryonic limb morphogenesis ISS
 biological_processGO:0043484 regulation of RNA splicing IDA
 biological_processGO:0045445 myoblast differentiation ISS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0010494 cytoplasmic stress granule IDA
 molecular_functionGO:0001069 regulatory region RNA binding IEA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0003725 double-stranded RNA binding IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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