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

Gene ID: 54845, updated on 1-Jun-2020

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
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

Genomic context

See ESRP1 in Genome Data Viewer
Location:
8q22.1
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (94640999..94707466)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (95653364..95719694)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101926977 Neighboring gene ribosomal protein L31 pseudogene Neighboring gene uncharacterized LOC100288748 Neighboring gene ribosomal protein S15a pseudogene 26 Neighboring gene dpy-19 like 4 Neighboring gene integrator complex subunit 8 Neighboring gene ribosomal protein L17 pseudogene Neighboring gene cyclin E2

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Homology

Clone Names

  • FLJ20171

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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 (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:630668
    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: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
  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/Swiss-Prot
    Q6NXG1
    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
    Q6NXG1
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    94640999..94707466
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005250991.3XP_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_005250992.3XP_005251049.1  epithelial splicing regulatory protein 1 isoform X2

    See identical proteins and their annotated locations for XP_005251049.1

    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
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