ENSG00000104413


Homo sapiens

Features
Gene ID: ENSG00000104413
  
Biological name :ESRP1
  
Synonyms : epithelial splicing regulatory protein 1 / ESRP1 / Q6NXG1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: 1
Band: q22.1
Gene start: 94641074
Gene end: 94707466
  
Corresponding Affymetrix probe sets: 219121_s_at (Human Genome U133 Plus 2.0 Array)   225846_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000494213
Ensembl peptide - ENSP00000430118
Ensembl peptide - ENSP00000495733
Ensembl peptide - ENSP00000351168
Ensembl peptide - ENSP00000402766
Ensembl peptide - ENSP00000405738
Ensembl peptide - ENSP00000407349
Ensembl peptide - ENSP00000428490
Ensembl peptide - ENSP00000429125
NCBI entrez gene - 54845     See in Manteia.
OMIM - 612959
RefSeq - XM_005250992
RefSeq - NM_001034915
RefSeq - NM_001122825
RefSeq - NM_001122826
RefSeq - NM_001122827
RefSeq - NM_017697
RefSeq - XM_005250991
RefSeq Peptide - NP_001116298
RefSeq Peptide - NP_001116299
RefSeq Peptide - NP_060167
RefSeq Peptide - NP_001030087
RefSeq Peptide - NP_001116297
swissprot - Q6NXG1
swissprot - H0YBB3
swissprot - H0YBR2
swissprot - E5RI26
Ensembl - ENSG00000104413
  
Related genetic diseases (OMIM): 618013 - ?Deafness, autosomal recessive 109, 618013
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
 esrp1ENSDARG00000011245Danio rerio
 ESRP1ENSGALG00000031076Gallus gallus
 Esrp1ENSMUSG00000040728Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ESRP2 / Q9H6T0 / epithelial splicing regulatory protein 2ENSG0000010306761
P55795 / HNRNPH2 / heterogeneous nuclear ribonucleoprotein H2ENSG0000012694519
P31943 / HNRNPH1 / heterogeneous nuclear ribonucleoprotein H1ENSG0000016904519
HNRNPF / P52597 / heterogeneous nuclear ribonucleoprotein FENSG0000016981318
GRSF1 / Q12849 / G-rich RNA sequence binding factor 1ENSG0000013246317
Q8IXT5 / RBM12B / RNA binding motif protein 12BENSG0000018380815
RBM12 / Q9NTZ6 / RNA binding motif protein 12ENSG0000024446214
P31942 / HNRNPH3 / heterogeneous nuclear ribonucleoprotein H3ENSG0000009674612


Protein motifs (from Interpro)
Interpro ID Name
 IPR000504  RNA recognition motif domain
 IPR012337  Ribonuclease H-like superfamily
 IPR034427  ESRP1, RNA recognition motif 1
 IPR035979  RNA-binding domain superfamily
 IPR036397  Ribonuclease H superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006397 mRNA processing IEA
 biological_processGO:0008380 RNA splicing IEA
 biological_processGO:0008543 fibroblast growth factor receptor signaling pathway TAS
 biological_processGO:0043484 regulation of RNA splicing IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0016604 nuclear body IDA
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0003729 mRNA binding IDA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Signaling by BRAF and RAF fusions
FGFR2 alternative splicing


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


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000104413 ESRP1 / Q6NXG1 / epithelial splicing regulatory protein 1  / complex






 

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