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

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: mouse all
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Genomic context

Location:: 8q22.1

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (94641174..94707466)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (95766111..95832462)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (95653402..95719694)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Splicing factor ESRP1 derived circ_0068162 promotes the progression of oral squamous cell carcinoma via the miR-186/JAG axis.
Title: Splicing factor ESRP1 derived circ_0068162 promotes the progression of oral squamous cell carcinoma via the miR-186/JAG axis.
ESRP1 controls biogenesis and function of a large abundant multiexon circRNA.
Title: ESRP1 controls biogenesis and function of a large abundant multiexon circRNA.
Matrix stiffness regulates tumor cell intravasation through expression and ESRP1-mediated alternative splicing of MENA.
Title: Matrix stiffness regulates tumor cell intravasation through expression and ESRP1-mediated alternative splicing of MENA.
The Role of ESRP1 in the Regulation of PHGDH in Estrogen Receptor-Positive Breast Cancer.
Title: The Role of ESRP1 in the Regulation of PHGDH in Estrogen Receptor-Positive Breast Cancer.
Overexpression of Epithelial Splicing Regulatory Protein 1 in Metastatic Lesions of Serous Ovarian Carcinoma Correlates with Poor Patient Prognosis.
Title: Overexpression of Epithelial Splicing Regulatory Protein 1 in Metastatic Lesions of Serous Ovarian Carcinoma Correlates with Poor Patient Prognosis.
Silencing ESRP1 expression promotes caspase-independent cell death via nuclear translocation of AIF in colon cancer cells.
Title: Silencing ESRP1 expression promotes caspase-independent cell death via nuclear translocation of AIF in colon cancer cells.
MiR-337-3p suppresses migration and invasion of breast cancer cells by downregulating ESRP1.
Title: MiR-337-3p suppresses migration and invasion of breast cancer cells by downregulating ESRP1.
ESRP1 as a prognostic factor of non-small-cell lung cancer is related to the EMT transcription factor of Twist.
Title: ESRP1 as a prognostic factor of non-small-cell lung cancer is related to the EMT transcription factor of Twist.
Epithelial Splicing Regulatory Protein 1 Is Overexpressed in Breast Cancer and Predicts Poor Prognosis for Breast Cancer Patients.
Title: Epithelial Splicing Regulatory Protein 1 Is Overexpressed in Breast Cancer and Predicts Poor Prognosis for Breast Cancer Patients.
Emerging Multi-cancer Regulatory Role of ESRP1: Orchestration of Alternative Splicing to Control EMT.
Title: Emerging Multi-cancer Regulatory Role of ESRP1: Orchestration of Alternative Splicing to Control EMT.

Submit: New GeneRIF Correction See all GeneRIFs (50)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hearing loss, autosomal recessive 109 MedGen: C4693935 OMIM: 618013 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-82785 (e-PCR)
- UniSTS:95768

RH103541 (e-PCR)
- UniSTS:97866

RH99323 (e-PCR)
- UniSTS:86866

RH11853 (e-PCR)
- UniSTS:72305

G17260 (e-PCR)
- UniSTS:46809

NoName (e-PCR)
- UniSTS:483313

RH119314 (e-PCR)
- UniSTS:133876

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

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Preferred Names: epithelial splicing regulatory protein 1

Names: RNA-binding motif protein 35A; RNA-binding protein 35A

NCBI Reference Sequences (RefSeq)

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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)

NM_001034915.3 → NP_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:216 → 308

RRM1_ESRP1; RNA recognition motif 1 (RRM1) found in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins

cd12739
Location:310 → 419

RRM2_ESRP1; RNA recognition motif 2 (RRM2) found in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins

cd12742
Location:444 → 524

RRM3_ESRP1_ESRP2; RNA recognition motif 3 (RRM3) found in epithelial splicing regulatory protein ESRP1, ESRP2 and similar proteins

cl10012
Location:29 → 168

DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

cl17169
Location:629 → 668

RRM_SF; RNA recognition motif (RRM) superfamily
NM_001122825.2 → NP_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:216 → 308

RRM1_ESRP1; RNA recognition motif 1 (RRM1) found in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins

cd12739
Location:310 → 419

RRM2_ESRP1; RNA recognition motif 2 (RRM2) found in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins

cd12742
Location:444 → 524

RRM3_ESRP1_ESRP2; RNA recognition motif 3 (RRM3) found in epithelial splicing regulatory protein ESRP1, ESRP2 and similar proteins

cl10012
Location:29 → 168

DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
NM_001122826.2 → NP_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:221 → 305

RRM1_ESRP1; RNA recognition motif 1 in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins

cd12739
Location:310 → 418

RRM2_ESRP1; RNA recognition motif 2 in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins

cd12742
Location:444 → 524

RRM3_ESRP1_ESRP2; RNA recognition motif in epithelial splicing regulatory protein ESRP1, ESRP2 and similar proteins

pfam12868
Location:577 → 638

DUF3824; Domain of unknwon function (DUF3824)

cl10012
Location:29 → 168

DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

cl17169
Location:630 → 657

RRM_SF; RNA recognition motif (RRM) superfamily
NM_001122827.2 → NP_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:221 → 305

RRM1_ESRP1; RNA recognition motif 1 in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins

cd12739
Location:310 → 418

RRM2_ESRP1; RNA recognition motif 2 in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins

cd12742
Location:444 → 524

RRM3_ESRP1_ESRP2; RNA recognition motif in epithelial splicing regulatory protein ESRP1, ESRP2 and similar proteins

cl10012
Location:29 → 168

DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
NM_017697.4 → NP_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:221 → 305

RRM1_ESRP1; RNA recognition motif 1 in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins

cd12739
Location:310 → 418

RRM2_ESRP1; RNA recognition motif 2 in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins

cd12742
Location:444 → 524

RRM3_ESRP1_ESRP2; RNA recognition motif in epithelial splicing regulatory protein ESRP1, ESRP2 and similar proteins

pfam16072
Location:537 → 635

DUF4813; Domain of unknown function (DUF4813)

cl10012
Location:29 → 168

DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

cl17169
Location:634 → 672

RRM_SF; RNA recognition motif (RRM) superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

94641174..94707466

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005250991.4 → XP_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:221 → 305

RRM1_ESRP1; RNA recognition motif 1 in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins

cd12739
Location:310 → 418

RRM2_ESRP1; RNA recognition motif 2 in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins

cd12742
Location:444 → 524

RRM3_ESRP1_ESRP2; RNA recognition motif in epithelial splicing regulatory protein ESRP1, ESRP2 and similar proteins

pfam16072
Location:537 → 635

DUF4813; Domain of unknown function (DUF4813)

cl10012
Location:29 → 168

DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

cl17169
Location:634 → 661

RRM_SF; RNA recognition motif (RRM) superfamily
XM_047421916.1 → XP_047277872.1 epithelial splicing regulatory protein 1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

95766111..95832462

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054360730.1 → XP_054216705.1 epithelial splicing regulatory protein 1 isoform X1
XM_054360731.1 → XP_054216706.1 epithelial splicing regulatory protein 1 isoform X2