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Protein

Epithelial splicing regulatory protein 1

Gene

ESRP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

mRNA splicing factor that regulates the formation of epithelial cell-specific isoforms. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Also regulates the splicing of CD44, CTNND1, ENAH, 3 transcripts that undergo changes in splicing during the epithelial-to-mesenchymal transition (EMT). Acts by directly binding specific sequences in mRNAs. Binds the GU-rich sequence motifs in the ISE/ISS-3, a cis-element regulatory region present in the mRNA of FGFR2.1 Publication

GO - Molecular functioni

  • mRNA binding Source: UniProtKB
  • nucleotide binding Source: InterPro

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

mRNA processing, mRNA splicing

Keywords - Ligandi

RNA-binding

Enzyme and pathway databases

ReactomeiR-HSA-6802952. Signaling by BRAF and RAF fusions.
R-HSA-6803529. FGFR2 alternative splicing.

Names & Taxonomyi

Protein namesi
Recommended name:
Epithelial splicing regulatory protein 1
Alternative name(s):
RNA-binding motif protein 35A
RNA-binding protein 35A
Gene namesi
Name:ESRP1
Synonyms:RBM35A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:25966. ESRP1.

Subcellular locationi

GO - Cellular componenti

  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi54845.
OpenTargetsiENSG00000104413.
PharmGKBiPA164719324.

Polymorphism and mutation databases

BioMutaiESRP1.
DMDMi124020999.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002730461 – 681Epithelial splicing regulatory protein 1Add BLAST681

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei543PhosphoserineBy similarity1
Modified residuei582Omega-N-methylarginineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiQ6NXG1.
MaxQBiQ6NXG1.
PaxDbiQ6NXG1.
PeptideAtlasiQ6NXG1.
PRIDEiQ6NXG1.

PTM databases

iPTMnetiQ6NXG1.
PhosphoSitePlusiQ6NXG1.

Expressioni

Tissue specificityi

Epithelial cell-specific.1 Publication

Inductioni

Down-regulated during the epithelial-to-mesenchymal transition (EMT).1 Publication

Gene expression databases

BgeeiENSG00000104413.
CleanExiHS_RBM35A.
ExpressionAtlasiQ6NXG1. baseline and differential.
GenevisibleiQ6NXG1. HS.

Organism-specific databases

HPAiHPA023719.
HPA023720.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
ATXN1P542535EBI-10213520,EBI-930964

Protein-protein interaction databases

BioGridi120196. 15 interactors.
IntActiQ6NXG1. 2 interactors.
STRINGi9606.ENSP00000405738.

Structurei

Secondary structure

1681
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi314 – 321Combined sources8
Beta strandi327 – 330Combined sources4
Helixi339 – 347Combined sources9
Helixi355 – 358Combined sources4
Beta strandi359 – 363Combined sources5
Beta strandi369 – 375Combined sources7
Helixi380 – 387Combined sources8
Turni388 – 391Combined sources4
Beta strandi392 – 396Combined sources5
Beta strandi402 – 404Combined sources3
Helixi406 – 416Combined sources11
Beta strandi446 – 451Combined sources6
Helixi458 – 465Combined sources8
Helixi466 – 470Combined sources5
Beta strandi471 – 481Combined sources11
Beta strandi485 – 496Combined sources12
Helixi498 – 507Combined sources10
Beta strandi509 – 513Combined sources5
Beta strandi516 – 523Combined sources8
Helixi525 – 533Combined sources9

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DHANMR-A310-419[»]
2RVJNMR-A438-539[»]
ProteinModelPortaliQ6NXG1.
SMRiQ6NXG1.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ6NXG1.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini225 – 302RRM 1PROSITE-ProRule annotationAdd BLAST78
Domaini326 – 406RRM 2PROSITE-ProRule annotationAdd BLAST81
Domaini445 – 525RRM 3PROSITE-ProRule annotationAdd BLAST81

Sequence similaritiesi

Belongs to the ESRP family.Curated
Contains 3 RRM (RNA recognition motif) domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG1365. Eukaryota.
ENOG410XPZU. LUCA.
GeneTreeiENSGT00760000119102.
InParanoidiQ6NXG1.
KOiK14947.
OMAiAMTECLN.
OrthoDBiEOG091G06HY.
PhylomeDBiQ6NXG1.
TreeFamiTF316157.

Family and domain databases

Gene3Di3.30.420.10. 1 hit.
3.30.70.330. 3 hits.
InterProiIPR012677. Nucleotide-bd_a/b_plait.
IPR012337. RNaseH-like_dom.
IPR000504. RRM_dom.
[Graphical view]
SMARTiSM00360. RRM. 3 hits.
[Graphical view]
SUPFAMiSSF53098. SSF53098. 1 hit.
SSF54928. SSF54928. 2 hits.
PROSITEiPS50102. RRM. 2 hits.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6NXG1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MTASPDYLVV LFGITAGATG AKLGSDEKEL ILLFWKVVDL ANKKVGQLHE
60 70 80 90 100
VLVRPDQLEL TEDCKEETKI DVESLSSASQ LDQALRQFNQ SVSNELNIGV
110 120 130 140 150
GTSFCLCTDG QLHVRQILHP EASKKNVLLP ECFYSFFDLR KEFKKCCPGS
160 170 180 190 200
PDIDKLDVAT MTEYLNFEKS SSVSRYGASQ VEDMGNIILA MISEPYNHRF
210 220 230 240 250
SDPERVNYKF ESGTCSKMEL IDDNTVVRAR GLPWQSSDQD IARFFKGLNI
260 270 280 290 300
AKGGAALCLN AQGRRNGEAL VRFVSEEHRD LALQRHKHHM GTRYIEVYKA
310 320 330 340 350
TGEDFLKIAG GTSNEVAQFL SKENQVIVRM RGLPFTATAE EVVAFFGQHC
360 370 380 390 400
PITGGKEGIL FVTYPDGRPT GDAFVLFACE EYAQNALRKH KDLLGKRYIE
410 420 430 440 450
LFRSTAAEVQ QVLNRFSSAP LIPLPTPPII PVLPQQFVPP TNVRDCIRLR
460 470 480 490 500
GLPYAATIED ILDFLGEFAT DIRTHGVHMV LNHQGRPSGD AFIQMKSADR
510 520 530 540 550
AFMAAQKCHK KNMKDRYVEV FQCSAEEMNF VLMGGTLNRN GLSPPPCKLP
560 570 580 590 600
CLSPPSYTFP APAAVIPTEA AIYQPSVILN PRALQPSTAY YPAGTQLFMN
610 620 630 640 650
YTAYYPSPPG SPNSLGYFPT AANLSGVPPQ PGTVVRMQGL AYNTGVKEIL
660 670 680
NFFQGYQYAT EDGLIHTNDQ ARTLPKEWVC I
Length:681
Mass (Da):75,585
Last modified:January 23, 2007 - v2
Checksum:i066379C448FBAF5C
GO
Isoform 2 (identifier: Q6NXG1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     608-608: P → V
     609-681: Missing.

Show »
Length:608
Mass (Da):67,664
Checksum:i52F36D3E47390D91
GO
Isoform 3 (identifier: Q6NXG1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     546-549: Missing.

Note: No experimental confirmation available.
Show »
Length:677
Mass (Da):75,144
Checksum:i489B60566D7DB7DB
GO
Isoform 4 (identifier: Q6NXG1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     658-681: YATEDGLIHTNDQARTLPKEWVCI → CLKDVW

Note: No experimental confirmation available.
Show »
Length:663
Mass (Da):73,574
Checksum:i605808D23FF4A83B
GO
Isoform 5 (identifier: Q6NXG1-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     546-549: Missing.
     658-681: YATEDGLIHTNDQARTLPKEWVCI → CLKDVW

Note: No experimental confirmation available.
Show »
Length:659
Mass (Da):73,133
Checksum:i98860B8DF526D781
GO

Sequence cautioni

The sequence AAH19932 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA90992 differs from that shown. Reason: Frameshift at position 512.Curated
The sequence BAA90992 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti505A → V in BX647570 (PubMed:17974005).Curated1
Sequence conflicti653F → S in AAH99916 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030073196Y → C.Corresponds to variant rs2303454dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_022464546 – 549Missing in isoform 3 and isoform 5. 2 Publications4
Alternative sequenceiVSP_022465608P → V in isoform 2. 1 Publication1
Alternative sequenceiVSP_022466609 – 681Missing in isoform 2. 1 PublicationAdd BLAST73
Alternative sequenceiVSP_022467658 – 681YATED…EWVCI → CLKDVW in isoform 4 and isoform 5. 2 PublicationsAdd BLAST24

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BX647570 mRNA. No translation available.
AC108860 Genomic DNA. No translation available.
AP005660 Genomic DNA. No translation available.
BC019932 mRNA. Translation: AAH19932.1. Different initiation.
BC067098 mRNA. Translation: AAH67098.2.
BC099916 mRNA. Translation: AAH99916.2.
BC112043 mRNA. Translation: AAI12044.1.
AK000178 mRNA. Translation: BAA90992.1. Sequence problems.
CCDSiCCDS47895.1. [Q6NXG1-5]
CCDS47896.1. [Q6NXG1-2]
CCDS47897.1. [Q6NXG1-1]
CCDS47898.1. [Q6NXG1-3]
RefSeqiNP_001030087.2. NM_001034915.2. [Q6NXG1-3]
NP_001116297.1. NM_001122825.1. [Q6NXG1-2]
NP_001116298.1. NM_001122826.1. [Q6NXG1-5]
NP_001116299.1. NM_001122827.1.
NP_060167.2. NM_017697.3. [Q6NXG1-1]
XP_005251048.1. XM_005250991.3. [Q6NXG1-4]
UniGeneiHs.487471.

Genome annotation databases

EnsembliENST00000358397; ENSP00000351168; ENSG00000104413. [Q6NXG1-3]
ENST00000423620; ENSP00000407349; ENSG00000104413. [Q6NXG1-5]
ENST00000433389; ENSP00000405738; ENSG00000104413. [Q6NXG1-1]
ENST00000454170; ENSP00000402766; ENSG00000104413. [Q6NXG1-2]
GeneIDi54845.
KEGGihsa:54845.
UCSCiuc003ygq.5. human. [Q6NXG1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BX647570 mRNA. No translation available.
AC108860 Genomic DNA. No translation available.
AP005660 Genomic DNA. No translation available.
BC019932 mRNA. Translation: AAH19932.1. Different initiation.
BC067098 mRNA. Translation: AAH67098.2.
BC099916 mRNA. Translation: AAH99916.2.
BC112043 mRNA. Translation: AAI12044.1.
AK000178 mRNA. Translation: BAA90992.1. Sequence problems.
CCDSiCCDS47895.1. [Q6NXG1-5]
CCDS47896.1. [Q6NXG1-2]
CCDS47897.1. [Q6NXG1-1]
CCDS47898.1. [Q6NXG1-3]
RefSeqiNP_001030087.2. NM_001034915.2. [Q6NXG1-3]
NP_001116297.1. NM_001122825.1. [Q6NXG1-2]
NP_001116298.1. NM_001122826.1. [Q6NXG1-5]
NP_001116299.1. NM_001122827.1.
NP_060167.2. NM_017697.3. [Q6NXG1-1]
XP_005251048.1. XM_005250991.3. [Q6NXG1-4]
UniGeneiHs.487471.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DHANMR-A310-419[»]
2RVJNMR-A438-539[»]
ProteinModelPortaliQ6NXG1.
SMRiQ6NXG1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120196. 15 interactors.
IntActiQ6NXG1. 2 interactors.
STRINGi9606.ENSP00000405738.

PTM databases

iPTMnetiQ6NXG1.
PhosphoSitePlusiQ6NXG1.

Polymorphism and mutation databases

BioMutaiESRP1.
DMDMi124020999.

Proteomic databases

EPDiQ6NXG1.
MaxQBiQ6NXG1.
PaxDbiQ6NXG1.
PeptideAtlasiQ6NXG1.
PRIDEiQ6NXG1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000358397; ENSP00000351168; ENSG00000104413. [Q6NXG1-3]
ENST00000423620; ENSP00000407349; ENSG00000104413. [Q6NXG1-5]
ENST00000433389; ENSP00000405738; ENSG00000104413. [Q6NXG1-1]
ENST00000454170; ENSP00000402766; ENSG00000104413. [Q6NXG1-2]
GeneIDi54845.
KEGGihsa:54845.
UCSCiuc003ygq.5. human. [Q6NXG1-1]

Organism-specific databases

CTDi54845.
DisGeNETi54845.
GeneCardsiESRP1.
HGNCiHGNC:25966. ESRP1.
HPAiHPA023719.
HPA023720.
MIMi612959. gene.
neXtProtiNX_Q6NXG1.
OpenTargetsiENSG00000104413.
PharmGKBiPA164719324.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1365. Eukaryota.
ENOG410XPZU. LUCA.
GeneTreeiENSGT00760000119102.
InParanoidiQ6NXG1.
KOiK14947.
OMAiAMTECLN.
OrthoDBiEOG091G06HY.
PhylomeDBiQ6NXG1.
TreeFamiTF316157.

Enzyme and pathway databases

ReactomeiR-HSA-6802952. Signaling by BRAF and RAF fusions.
R-HSA-6803529. FGFR2 alternative splicing.

Miscellaneous databases

ChiTaRSiESRP1. human.
EvolutionaryTraceiQ6NXG1.
GenomeRNAii54845.
PROiQ6NXG1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104413.
CleanExiHS_RBM35A.
ExpressionAtlasiQ6NXG1. baseline and differential.
GenevisibleiQ6NXG1. HS.

Family and domain databases

Gene3Di3.30.420.10. 1 hit.
3.30.70.330. 3 hits.
InterProiIPR012677. Nucleotide-bd_a/b_plait.
IPR012337. RNaseH-like_dom.
IPR000504. RRM_dom.
[Graphical view]
SMARTiSM00360. RRM. 3 hits.
[Graphical view]
SUPFAMiSSF53098. SSF53098. 1 hit.
SSF54928. SSF54928. 2 hits.
PROSITEiPS50102. RRM. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiESRP1_HUMAN
AccessioniPrimary (citable) accession number: Q6NXG1
Secondary accession number(s): A6NHA8
, A8MPX1, E9PB47, Q2M2B0, Q499G3, Q6PJ86, Q9NXL8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2007
Last sequence update: January 23, 2007
Last modified: November 30, 2016
This is version 115 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.