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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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 (PubMed:19285943). Regulates splicing and expression of genes involved in inner ear development, auditory hair cell differentiation, and cell fate specification in the cochlear epithelium (By similarity).By similarity1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • mRNA binding Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionRNA-binding
Biological processmRNA processing, mRNA splicing

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Epithelial splicing regulatory protein 1
Alternative name(s):
RNA-binding motif protein 35A
RNA-binding protein 35A
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ESRP1
Synonyms:RBM35A
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000104413.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25966 ESRP1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612959 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6NXG1

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Deafness, autosomal recessive, 109 (DFNB109)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic, sensorineural deafness characterized by bilateral, congenital, severe to profound hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB109 affected individuals additionally exhibit vestibular dysplasia, although they do not manifest problems with balance or movement.
See also OMIM:618013
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_080811259L → V in DFNB109; hypomorphic mutation affecting alternative splicing in patient-derived induced pluripotent stem cells and other cell-based assays. 1 Publication1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNET

More...
DisGeNETi
54845

MalaCards human disease database

More...
MalaCardsi
ESRP1
MIMi618013 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000104413

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA164719324

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ESRP1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
124020999

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002730461 – 681Epithelial splicing regulatory protein 1Add BLAST681

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei543PhosphoserineBy similarity1
Modified residuei582Omega-N-methylarginineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q6NXG1

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q6NXG1

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q6NXG1

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q6NXG1

PeptideAtlas

More...
PeptideAtlasi
Q6NXG1

PRoteomics IDEntifications database

More...
PRIDEi
Q6NXG1

ProteomicsDB human proteome resource

More...
ProteomicsDBi
66753
66754 [Q6NXG1-2]
66755 [Q6NXG1-3]
66756 [Q6NXG1-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6NXG1

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q6NXG1

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Epithelial cell-specific.1 Publication

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000104413 Expressed in 145 organ(s), highest expression level in secondary oocyte

CleanEx database of gene expression profiles

More...
CleanExi
HS_RBM35A

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q6NXG1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6NXG1 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA023719
HPA023720
HPA067104

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
120196, 49 interactors

Protein interaction database and analysis system

More...
IntActi
Q6NXG1, 9 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000405738

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1681
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DHANMR-A310-419[»]
2RVJNMR-A438-539[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q6NXG1

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q6NXG1

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q6NXG1

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini225 – 302RRM 1PROSITE-ProRule annotationAdd BLAST78
Domaini326 – 406RRM 2PROSITE-ProRule annotationAdd BLAST81
Domaini445 – 525RRM 3PROSITE-ProRule annotationAdd BLAST81

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the ESRP family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1365 Eukaryota
ENOG410XPZU LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159511

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6NXG1

KEGG Orthology (KO)

More...
KOi
K14947

Identification of Orthologs from Complete Genome Data

More...
OMAi
NIRDCIR

Database of Orthologous Groups

More...
OrthoDBi
376996at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6NXG1

TreeFam database of animal gene trees

More...
TreeFami
TF316157

Family and domain databases

Conserved Domains Database

More...
CDDi
cd12736 RRM1_ESRP1, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.30.420.10, 1 hit
3.30.70.330, 3 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR034427 ESRP1_RRM1
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR035979 RBD_domain_sf
IPR012337 RNaseH-like_sf
IPR036397 RNaseH_sf
IPR000504 RRM_dom

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00360 RRM, 3 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53098 SSF53098, 1 hit
SSF54928 SSF54928, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50102 RRM, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 5 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YBR2H0YBR2_HUMAN
Epithelial-splicing regulatory prot...
ESRP1
502Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YBB3H0YBB3_HUMAN
Epithelial-splicing regulatory prot...
ESRP1
522Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2U3TZN9A0A2U3TZN9_HUMAN
Epithelial-splicing regulatory prot...
ESRP1
604Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RI26E5RI26_HUMAN
Epithelial-splicing regulatory prot...
ESRP1
40Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 dbSNP:rs2303454Ensembl.1
Natural variantiVAR_080811259L → V in DFNB109; hypomorphic mutation affecting alternative splicing in patient-derived induced pluripotent stem cells and other cell-based assays. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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.

The Consensus CDS (CCDS) project

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CCDSi
CCDS47895.1 [Q6NXG1-5]
CCDS47896.1 [Q6NXG1-2]
CCDS47897.1 [Q6NXG1-1]
CCDS47898.1 [Q6NXG1-3]

NCBI Reference Sequences

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RefSeqi
NP_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]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.487471

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000358397; ENSP00000351168; ENSG00000104413 [Q6NXG1-3]
ENST00000423620; ENSP00000407349; ENSG00000104413 [Q6NXG1-5]
ENST00000433389; ENSP00000405738; ENSG00000104413 [Q6NXG1-1]
ENST00000642581; ENSP00000495733; ENSG00000104413 [Q6NXG1-1]
ENST00000646773; ENSP00000494213; ENSG00000104413 [Q6NXG1-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
54845

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:54845

UCSC genome browser

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UCSCi
uc003ygq.5 human [Q6NXG1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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, 49 interactors
IntActiQ6NXG1, 9 interactors
STRINGi9606.ENSP00000405738

PTM databases

iPTMnetiQ6NXG1
PhosphoSitePlusiQ6NXG1

Polymorphism and mutation databases

BioMutaiESRP1
DMDMi124020999

Proteomic databases

EPDiQ6NXG1
jPOSTiQ6NXG1
MaxQBiQ6NXG1
PaxDbiQ6NXG1
PeptideAtlasiQ6NXG1
PRIDEiQ6NXG1
ProteomicsDBi66753
66754 [Q6NXG1-2]
66755 [Q6NXG1-3]
66756 [Q6NXG1-4]

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]
ENST00000642581; ENSP00000495733; ENSG00000104413 [Q6NXG1-1]
ENST00000646773; ENSP00000494213; ENSG00000104413 [Q6NXG1-2]
GeneIDi54845
KEGGihsa:54845
UCSCiuc003ygq.5 human [Q6NXG1-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
54845
DisGeNETi54845
EuPathDBiHostDB:ENSG00000104413.15

GeneCards: human genes, protein and diseases

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GeneCardsi
ESRP1
HGNCiHGNC:25966 ESRP1
HPAiHPA023719
HPA023720
HPA067104
MalaCardsiESRP1
MIMi612959 gene
618013 phenotype
neXtProtiNX_Q6NXG1
OpenTargetsiENSG00000104413
PharmGKBiPA164719324

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1365 Eukaryota
ENOG410XPZU LUCA
GeneTreeiENSGT00940000159511
InParanoidiQ6NXG1
KOiK14947
OMAiNIRDCIR
OrthoDBi376996at2759
PhylomeDBiQ6NXG1
TreeFamiTF316157

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
ESRP1 human
EvolutionaryTraceiQ6NXG1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
54845

Protein Ontology

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PROi
PR:Q6NXG1

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000104413 Expressed in 145 organ(s), highest expression level in secondary oocyte
CleanExiHS_RBM35A
ExpressionAtlasiQ6NXG1 baseline and differential
GenevisibleiQ6NXG1 HS

Family and domain databases

CDDicd12736 RRM1_ESRP1, 1 hit
Gene3Di3.30.420.10, 1 hit
3.30.70.330, 3 hits
InterProiView protein in InterPro
IPR034427 ESRP1_RRM1
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR035979 RBD_domain_sf
IPR012337 RNaseH-like_sf
IPR036397 RNaseH_sf
IPR000504 RRM_dom
SMARTiView protein in SMART
SM00360 RRM, 3 hits
SUPFAMiSSF53098 SSF53098, 1 hit
SSF54928 SSF54928, 2 hits
PROSITEiView protein in PROSITE
PS50102 RRM, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiESRP1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q6NXG1
Secondary accession number(s): A6NHA8
, A8MPX1, E9PB47, Q2M2B0, Q499G3, Q6PJ86, Q9NXL8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2007
Last sequence update: January 23, 2007
Last modified: January 16, 2019
This is version 130 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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