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    ESRP1 epithelial splicing regulatory protein 1 [ Homo sapiens (human) ]

    Gene ID: 54845, updated on 28-Oct-2024

    Summary

    Official Symbol
    ESRP1provided by HGNC
    Official Full Name
    epithelial splicing regulatory protein 1provided by HGNC
    Primary source
    HGNC:HGNC:25966
    See related
    Ensembl:ENSG00000104413 MIM:612959; AllianceGenome:HGNC:25966
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RBM35A; RMB35A; DFNB109
    Summary
    ESPR1 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009]
    Expression
    Broad expression in esophagus (RPKM 33.0), skin (RPKM 32.6) and 15 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ESRP1 in Genome Data Viewer
    Location:
    8q22.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (94641174..94707466)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (95766111..95832462)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (95653402..95719694)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L31 pseudogene Neighboring gene VIRMA divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27633 Neighboring gene long intergenic non-protein coding RNA 2894 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27634 Neighboring gene ribosomal protein S15a pseudogene 26 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:95731221-95732175 Neighboring gene dpy-19 like 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27635 Neighboring gene integrator complex subunit 8 Neighboring gene cyclin E2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20171

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables mRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of RNA splicing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of RNA splicing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of inner ear auditory receptor cell fate specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of ribonucleoprotein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    epithelial splicing regulatory protein 1
    Names
    RNA-binding motif protein 35A
    RNA-binding protein 35A

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001034915.3NP_001030087.2  epithelial splicing regulatory protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001030087.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks a segment in the 3' coding region, compared to variant 1, that results in a shorter protein (isoform 2) when compared to isoform 1.
      Source sequence(s)
      AI990751, BC052574, BC099916, BG182742, BG212336, BX647570
      Consensus CDS
      CCDS47898.1
      UniProtKB/Swiss-Prot
      Q6NXG1
      Related
      ENSP00000351168.5, ENST00000358397.9
      Conserved Domains (5) summary
      cd12736
      Location:216308
      RRM1_ESRP1; RNA recognition motif 1 (RRM1) found in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins
      cd12739
      Location:310419
      RRM2_ESRP1; RNA recognition motif 2 (RRM2) found in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins
      cd12742
      Location:444524
      RRM3_ESRP1_ESRP2; RNA recognition motif 3 (RRM3) found in epithelial splicing regulatory protein ESRP1, ESRP2 and similar proteins
      cl10012
      Location:29168
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
      cl17169
      Location:629668
      RRM_SF; RNA recognition motif (RRM) superfamily
    2. NM_001122825.2NP_001116297.1  epithelial splicing regulatory protein 1 isoform 4

      See identical proteins and their annotated locations for NP_001116297.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks multiple exons in the 3' coding region, compared to variant 1, which results in a protein (isoform 4) with a shorter, distinct C-terminus when compared to isoform 1.
      Source sequence(s)
      AI990751, BC019932, BC052574, BG182742, BG212336, BX647570
      Consensus CDS
      CCDS47896.1
      UniProtKB/Swiss-Prot
      Q6NXG1
      Related
      ENSP00000494213.1, ENST00000646773.1
      Conserved Domains (4) summary
      cd12736
      Location:216308
      RRM1_ESRP1; RNA recognition motif 1 (RRM1) found in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins
      cd12739
      Location:310419
      RRM2_ESRP1; RNA recognition motif 2 (RRM2) found in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins
      cd12742
      Location:444524
      RRM3_ESRP1_ESRP2; RNA recognition motif 3 (RRM3) found in epithelial splicing regulatory protein ESRP1, ESRP2 and similar proteins
      cl10012
      Location:29168
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
    3. NM_001122826.2NP_001116298.1  epithelial splicing regulatory protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001116298.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has multiple differences in the 3' coding region, compared to variant 1, one of which results in a protein (isoform 3) with a shorter, distinct C-terminus when compared to isoform 1.
      Source sequence(s)
      AI990751, BC052574, BC099916, BG182742, BG212336, BX647570
      Consensus CDS
      CCDS47895.1
      UniProtKB/Swiss-Prot
      Q6NXG1
      Related
      ENSP00000407349.2, ENST00000423620.6
      Conserved Domains (6) summary
      cd12736
      Location:221305
      RRM1_ESRP1; RNA recognition motif 1 in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins
      cd12739
      Location:310418
      RRM2_ESRP1; RNA recognition motif 2 in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins
      cd12742
      Location:444524
      RRM3_ESRP1_ESRP2; RNA recognition motif in epithelial splicing regulatory protein ESRP1, ESRP2 and similar proteins
      pfam12868
      Location:577638
      DUF3824; Domain of unknwon function (DUF3824)
      cl10012
      Location:29168
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
      cl17169
      Location:630657
      RRM_SF; RNA recognition motif (RRM) superfamily
    4. NM_001122827.2NP_001116299.1  epithelial splicing regulatory protein 1 isoform 5

      See identical proteins and their annotated locations for NP_001116299.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) has multiple differences in the 3' coding region, compared to variant 1, one of which results in a protein (isoform 5) with a shorter, distinct C-terminus when compared to isoform 1.
      Source sequence(s)
      AI990751, BC052574, BC067098, BG182742, BX647570
      Consensus CDS
      CCDS87620.1
      UniProtKB/TrEMBL
      A0A2U3TZN9
      Related
      ENSP00000402766.3, ENST00000454170.7
      Conserved Domains (4) summary
      cd12736
      Location:221305
      RRM1_ESRP1; RNA recognition motif 1 in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins
      cd12739
      Location:310418
      RRM2_ESRP1; RNA recognition motif 2 in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins
      cd12742
      Location:444524
      RRM3_ESRP1_ESRP2; RNA recognition motif in epithelial splicing regulatory protein ESRP1, ESRP2 and similar proteins
      cl10012
      Location:29168
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
    5. NM_017697.4NP_060167.2  epithelial splicing regulatory protein 1 isoform 1

      See identical proteins and their annotated locations for NP_060167.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AI990751, BC052574, BC067098, BG182742, BX647570
      Consensus CDS
      CCDS47897.1
      UniProtKB/Swiss-Prot
      A6NHA8, A8MPX1, E9PB47, Q2M2B0, Q499G3, Q6NXG1, Q6PJ86, Q9NXL8
      Related
      ENSP00000405738.2, ENST00000433389.8
      Conserved Domains (6) summary
      cd12736
      Location:221305
      RRM1_ESRP1; RNA recognition motif 1 in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins
      cd12739
      Location:310418
      RRM2_ESRP1; RNA recognition motif 2 in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins
      cd12742
      Location:444524
      RRM3_ESRP1_ESRP2; RNA recognition motif in epithelial splicing regulatory protein ESRP1, ESRP2 and similar proteins
      pfam16072
      Location:537635
      DUF4813; Domain of unknown function (DUF4813)
      cl10012
      Location:29168
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
      cl17169
      Location:634672
      RRM_SF; RNA recognition motif (RRM) superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      94641174..94707466
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005250991.4XP_005251048.1  epithelial splicing regulatory protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005251048.1

      UniProtKB/Swiss-Prot
      Q6NXG1
      Conserved Domains (6) summary
      cd12736
      Location:221305
      RRM1_ESRP1; RNA recognition motif 1 in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins
      cd12739
      Location:310418
      RRM2_ESRP1; RNA recognition motif 2 in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins
      cd12742
      Location:444524
      RRM3_ESRP1_ESRP2; RNA recognition motif in epithelial splicing regulatory protein ESRP1, ESRP2 and similar proteins
      pfam16072
      Location:537635
      DUF4813; Domain of unknown function (DUF4813)
      cl10012
      Location:29168
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
      cl17169
      Location:634661
      RRM_SF; RNA recognition motif (RRM) superfamily
    2. XM_047421916.1XP_047277872.1  epithelial splicing regulatory protein 1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      95766111..95832462
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360730.1XP_054216705.1  epithelial splicing regulatory protein 1 isoform X1

    2. XM_054360731.1XP_054216706.1  epithelial splicing regulatory protein 1 isoform X2