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Entry version 140 (12 Aug 2020)
Sequence version 3 (18 Mar 2008)
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Protein

Endosome-associated-trafficking regulator 1

Gene

ENTR1

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

Endosome-associated protein that plays a role in membrane receptor sorting, cytokinesis and ciliogenesis (PubMed:23108400, PubMed:25278552, PubMed:27767179). Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1 (PubMed:25278552). Involved in the regulation of cytokinesis; the function may involve PTPN13 and GIT1 (PubMed:23108400). Plays a role in the formation of cilia (PubMed:27767179). Involved in cargo protein localization, such as PKD2, at primary cilia (PubMed:27767179). Involved in the presentation of the tumor necrosis factor (TNF) receptor TNFRSF1A on the cell surface, and hence in the modulation of the TNF-induced apoptosis (By similarity).By similarity3 Publications

<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 - 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

Biological processCell cycle, Cell division, Cilium biogenesis/degradation, Protein transport, Transport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q96C92

<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%5Fand%5Ftaxonomy%5Fsection">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:
Endosome-associated-trafficking regulator 1Curated
Alternative name(s):
Antigen NY-CO-31 Publication
Serologically defined colon cancer antigen 31 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:ENTR1Imported
Synonyms:SDCCAG3
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000165689.16

Human Gene Nomenclature Database

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HGNCi
HGNC:10667, ENTR1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
618289, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q96C92

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton, Endosome

<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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi190P → A: Disrupts interaction with PTPN13. 1 Publication1
Mutagenesisi194E → A: Disrupts interaction with PTPN13. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
10807

Open Targets

More...
OpenTargetsi
ENSG00000165689

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35597

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96C92, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SDCCAG3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
172045853

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003242851 – 435Endosome-associated-trafficking regulator 1Add BLAST435

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 residuei18PhosphoserineCombined sources1
Modified residuei147PhosphoserineCombined sources1
Modified residuei243PhosphoserineCombined sources1
Modified residuei247PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q96C92

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q96C92

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q96C92

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q96C92

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

More...
PaxDbi
Q96C92

PeptideAtlas

More...
PeptideAtlasi
Q96C92

PRoteomics IDEntifications database

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PRIDEi
Q96C92

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
76166 [Q96C92-1]
76167 [Q96C92-2]
76168 [Q96C92-3]
76169 [Q96C92-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96C92

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

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PhosphoSitePlusi
Q96C92

<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

Expressed in the colon (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000165689, Expressed in small intestine Peyer's patch and 225 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96C92, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96C92, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000165689, Low tissue specificity

<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%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Found in a complex with ENTR1, PTPN13 and GIT1 (PubMed:23108400).

Interacts with PTPN13 (via the FERM domain) (PubMed:23108400).

Interacts (via N-terminus) with GIT1 (via N- and C-terminus); this interaction is direct (PubMed:23108400).

Interacts with NOD2 (PubMed:27812135).

Interacts (via N-terminus) with IFT88 (PubMed:27767179).

Interacts with VPS35 (PubMed:25278552).

4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
116021, 72 interactors

Protein interaction database and analysis system

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IntActi
Q96C92, 52 interactors

Molecular INTeraction database

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MINTi
Q96C92

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000349929

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q96C92, protein

<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

3D structure databases

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

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SMRi
Q96C92

Database of comparative protein structure models

More...
ModBasei
Search...

<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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni173 – 198Required for interaction with PTPN131 PublicationAdd BLAST26

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili261 – 371Sequence analysisAdd BLAST111

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Tne N-terminal domain is necessary and sufficient for basal body localization and ciliogenesis.1 Publication

<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 ENTR1 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG502QUJK, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000000560

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_051353_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96C92

KEGG Orthology (KO)

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KOi
K22938

Identification of Orthologs from Complete Genome Data

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OMAi
LEYPQPF

Database of Orthologous Groups

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OrthoDBi
1429935at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q96C92

TreeFam database of animal gene trees

More...
TreeFami
TF335840

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR026757, ENTR1

The PANTHER Classification System

More...
PANTHERi
PTHR31259, PTHR31259, 1 hit

<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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 4 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96C92-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MSGYQRRPGA TPLSRARSLA IPDAPAFYER RSCLPQLNCE RPHGRDLDSP
60 70 80 90 100
FFGIRPAFMC YVPSPVLASV GDTDFGYGKG KCSKQSPSGA HGTHFGDDRF
110 120 130 140 150
EDLEEANPFS FREFLKTKNL GLSKEDPASR IYAKEASRHS LGLDHNSPPS
160 170 180 190 200
QTGGYGLEYQ QPFFEDPTGA GDLLDEEEDE DTGWSGAYLP SAIEQTHPER
210 220 230 240 250
VPAGTSPCST YLSFFSTPSE LAGPESLPSW ALSDTDSRVS PASPAGSPSA
260 270 280 290 300
DFAVHGESLG DRHLRTLQIS YDALKDENSK LRRKLNEVQS FSEAQTEMVR
310 320 330 340 350
TLERKLEAKM IKEESDYHDL ESVVQQVEQN LELMTKRAVK AENHVVKLKQ
360 370 380 390 400
EISLLQAQVS NFQRENEALR CGQGASLTVV KQNADVALQN LRVVMNSAQA
410 420 430
SIKQLVSGAE TLNLVAEILK SIDRISEVKD EEEDS
Length:435
Mass (Da):47,961
Last modified:March 18, 2008 - v3
<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:i03EBD9512232B5E3
GO
Isoform 2 (identifier: Q96C92-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     75-97: Missing.

Show »
Length:412
Mass (Da):45,626
Checksum:iB246220F62D659E3
GO
Isoform 3 (identifier: Q96C92-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-58: Missing.

Show »
Length:377
Mass (Da):41,432
Checksum:i771C16B861EE61D1
GO
Isoform 4 (identifier: Q96C92-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     24-96: Missing.

Show »
Length:362
Mass (Da):40,058
Checksum:iEABA3B5233D003EB
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MRP9A0A0A0MRP9_HUMAN
Endosome-associated-trafficking reg...
ENTR1
223Annotation 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>
H7C331H7C331_HUMAN
Endosome-associated-trafficking reg...
ENTR1
167Annotation 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>
B5MDD7B5MDD7_HUMAN
Endosome-associated-trafficking reg...
ENTR1
108Annotation 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 BAA91607 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.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 conflicti7R → H in AAH14515 (Ref. 4) Curated1
Sequence conflicti343N → T in AAQ56721 (Ref. 1) Curated1

Natural variant

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_039687157L → V. Corresponds to variant dbSNP:rs7047681Ensembl.1
Natural variantiVAR_039688176E → G1 PublicationCorresponds to variant dbSNP:rs17851182Ensembl.1
Natural variantiVAR_039689304R → Q1 PublicationCorresponds to variant dbSNP:rs3812577Ensembl.1
Natural variantiVAR_039690379V → M1 PublicationCorresponds to variant dbSNP:rs1131992Ensembl.1
Natural variantiVAR_039691428V → I1 PublicationCorresponds to variant dbSNP:rs17855450Ensembl.1

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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0321761 – 58Missing in isoform 3. 1 PublicationAdd BLAST58
Alternative sequenceiVSP_04047724 – 96Missing in isoform 4. 1 PublicationAdd BLAST73
Alternative sequenceiVSP_03217775 – 97Missing in isoform 2. 1 PublicationAdd BLAST23

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY349357 mRNA Translation: AAQ56721.1
CR597452 mRNA No translation available.
AL592301 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW88230.1
CH471090 Genomic DNA Translation: EAW88231.1
BC014515 mRNA Translation: AAH14515.2
AK001296 mRNA Translation: BAA91607.1 Different initiation.
AF039688 mRNA Translation: AAC18037.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS43903.1 [Q96C92-4]
CCDS43904.1 [Q96C92-1]
CCDS6999.2 [Q96C92-2]

NCBI Reference Sequences

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RefSeqi
NP_001034796.1, NM_001039707.1 [Q96C92-1]
NP_001034797.1, NM_001039708.1 [Q96C92-4]
NP_006634.3, NM_006643.3 [Q96C92-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000298537; ENSP00000298537; ENSG00000165689 [Q96C92-2]
ENST00000357365; ENSP00000349929; ENSG00000165689 [Q96C92-1]
ENST00000371725; ENSP00000360790; ENSG00000165689 [Q96C92-4]

Database of genes from NCBI RefSeq genomes

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GeneIDi
10807

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:10807

UCSC genome browser

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UCSCi
uc004chi.4, human [Q96C92-1]

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
AY349357 mRNA Translation: AAQ56721.1
CR597452 mRNA No translation available.
AL592301 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW88230.1
CH471090 Genomic DNA Translation: EAW88231.1
BC014515 mRNA Translation: AAH14515.2
AK001296 mRNA Translation: BAA91607.1 Different initiation.
AF039688 mRNA Translation: AAC18037.1
CCDSiCCDS43903.1 [Q96C92-4]
CCDS43904.1 [Q96C92-1]
CCDS6999.2 [Q96C92-2]
RefSeqiNP_001034796.1, NM_001039707.1 [Q96C92-1]
NP_001034797.1, NM_001039708.1 [Q96C92-4]
NP_006634.3, NM_006643.3 [Q96C92-2]

3D structure databases

SMRiQ96C92
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi116021, 72 interactors
IntActiQ96C92, 52 interactors
MINTiQ96C92
STRINGi9606.ENSP00000349929

PTM databases

iPTMnetiQ96C92
PhosphoSitePlusiQ96C92

Polymorphism and mutation databases

BioMutaiSDCCAG3
DMDMi172045853

Proteomic databases

EPDiQ96C92
jPOSTiQ96C92
MassIVEiQ96C92
MaxQBiQ96C92
PaxDbiQ96C92
PeptideAtlasiQ96C92
PRIDEiQ96C92
ProteomicsDBi76166 [Q96C92-1]
76167 [Q96C92-2]
76168 [Q96C92-3]
76169 [Q96C92-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
32151, 133 antibodies

The DNASU plasmid repository

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DNASUi
10807

Genome annotation databases

EnsembliENST00000298537; ENSP00000298537; ENSG00000165689 [Q96C92-2]
ENST00000357365; ENSP00000349929; ENSG00000165689 [Q96C92-1]
ENST00000371725; ENSP00000360790; ENSG00000165689 [Q96C92-4]
GeneIDi10807
KEGGihsa:10807
UCSCiuc004chi.4, human [Q96C92-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
10807
DisGeNETi10807
EuPathDBiHostDB:ENSG00000165689.16

GeneCards: human genes, protein and diseases

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GeneCardsi
ENTR1
HGNCiHGNC:10667, ENTR1
HPAiENSG00000165689, Low tissue specificity
MIMi618289, gene
neXtProtiNX_Q96C92
OpenTargetsiENSG00000165689
PharmGKBiPA35597

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG502QUJK, Eukaryota
GeneTreeiENSGT00390000000560
HOGENOMiCLU_051353_0_0_1
InParanoidiQ96C92
KOiK22938
OMAiLEYPQPF
OrthoDBi1429935at2759
PhylomeDBiQ96C92
TreeFamiTF335840

Enzyme and pathway databases

PathwayCommonsiQ96C92

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
10807, 7 hits in 871 CRISPR screens

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

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ChiTaRSi
SDCCAG3, human

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

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GenomeRNAii
10807
PharosiQ96C92, Tdark

Protein Ontology

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PROi
PR:Q96C92
RNActiQ96C92, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000165689, Expressed in small intestine Peyer's patch and 225 other tissues
ExpressionAtlasiQ96C92, baseline and differential
GenevisibleiQ96C92, HS

Family and domain databases

InterProiView protein in InterPro
IPR026757, ENTR1
PANTHERiPTHR31259, PTHR31259, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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 nameiENTR1_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: Q96C92
Secondary accession number(s): A6NCP1
, O60525, Q5SXN1, Q5SXN2, Q5SXN3, Q5SXN4, Q5SXN8, Q6V704, Q9NVY5
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: March 18, 2008
Last modified: August 12, 2020
This is version 140 of the entry and version 3 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

Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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