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UniProtKB - Q6UXG2 (ELAP1_HUMAN)

Entry version 140 (07 Apr 2021)
Sequence version 2 (15 May 2007)
Previous versions | rss
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Protein

Endosome/lysosome-associated apoptosis and autophagy regulator 1

Gene

ELAPOR1

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

May protect cells from cell death by inducing cytosolic vacuolization and upregulating the autophagy pathway (PubMed:21072319). May play a role in apoptosis and cell proliferation through its interaction with HSPA5 (PubMed:26045166).2 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 - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 processAutophagy

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q6UXG2

<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/lysosome-associated apoptosis and autophagy regulator 1Curated
Alternative name(s):
Estrogen-induced gene 121 protein1 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:ELAPOR1Imported
Synonyms:EIG1211 Publication, KIAA1324Imported
ORF Names:UNQ2426/PRO4985Imported
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:29618, ELAPOR1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		611298, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q6UXG2

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000116299.16

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini42 – 910ExtracellularSequence analysisAdd BLAST869
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei911 – 931HelicalSequence analysisAdd BLAST21
Topological domaini932 – 1013CytoplasmicSequence analysisAdd BLAST82

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Endosome, Golgi apparatus, Lysosome, Membrane

<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

Organism-specific databases

DisGeNET

More...DisGeNETi		57535

Open Targets

More...OpenTargetsi		ENSG00000116299

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142671607

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q6UXG2, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		KIAA1324

Domain mapping of disease mutations (DMDM)

More...DMDMi		147647000

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 41Sequence analysisAdd BLAST41
<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_000028660042 – 1013Endosome/lysosome-associated apoptosis and autophagy regulator 1Add BLAST972

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi153N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi278 ↔ 295By similarity
Disulfide bondi308 ↔ 330By similarity
Disulfide bondi311 ↔ 342By similarity
Glycosylationi404N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi658 ↔ 704PROSITE-ProRule annotation
Glycosylationi672N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi714 ↔ 739PROSITE-ProRule annotation
Disulfide bondi808 ↔ 844PROSITE-ProRule annotation
Disulfide bondi820 ↔ 856PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q6UXG2

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q6UXG2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q6UXG2

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q6UXG2

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

More...PaxDbi		Q6UXG2

PeptideAtlas

More...PeptideAtlasi		Q6UXG2

PRoteomics IDEntifications database

More...PRIDEi		Q6UXG2

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		67605 [Q6UXG2-1]
67606 [Q6UXG2-2]
67607 [Q6UXG2-3]
67608 [Q6UXG2-4]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1884, 12 N-Linked glycans (3 sites)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q6UXG2, 8 sites, 1 N-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q6UXG2

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

More...PhosphoSitePlusi		Q6UXG2

<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 normal endometrium but overexpressed in endometroid tumors.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

By estrogen replacement therapy.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000116299, Expressed in parotid gland and 172 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q6UXG2, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q6UXG2, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000116299, Tissue enhanced (pancreas, salivary gland)

<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

Interacts with HSPA5; may regulate the function of HSPA5 in apoptosis and cell proliferation.

1 Publication

<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)

More...BioGRIDi		121594, 15 interactors

Protein interaction database and analysis system

More...IntActi		Q6UXG2, 12 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000358955

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q6UXG2, 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

More...SMRi		Q6UXG2

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">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>Domaini656 – 858MRHPROSITE-ProRule annotationAdd BLAST203

<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 ELAPOR family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1217, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156861

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_005066_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q6UXG2

Identification of Orthologs from Complete Genome Data

More...OMAi		FWKKTRK

Database of Orthologous Groups

More...OrthoDBi		192139at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q6UXG2

TreeFam database of animal gene trees

More...TreeFami		TF315906

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR039181, EIG121-like
IPR009030, Growth_fac_rcpt_cys_sf

The PANTHER Classification System

More...PANTHERi		PTHR22727, PTHR22727, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF57184, SSF57184, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51914, MRH, 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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6UXG2-1) [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
MAEPGHSHHL SARVRGRTER RIPRLWRLLL WAGTAFQVTQ GTGPELHACK 
        60         70         80         90        100
ESEYHYEYTA CDSTGSRWRV AVPHTPGLCT SLPDPIKGTE CSFSCNAGEF 
       110        120        130        140        150
LDMKDQSCKP CAEGRYSLGT GIRFDEWDEL PHGFASLSAN MELDDSAAES 
       160        170        180        190        200
TGNCTSSKWV PRGDYIASNT DECTATLMYA VNLKQSGTVN FEYYYPDSSI 
       210        220        230        240        250
IFEFFVQNDQ CQPNADDSRW MKTTEKGWEF HSVELNRGNN VLYWRTTAFS 
       260        270        280        290        300
VWTKVPKPVL VRNIAITGVA YTSECFPCKP GTYADKQGSS FCKLCPANSY 
       310        320        330        340        350
SNKGETSCHQ CDPDKYSEKG SSSCNVRPAC TDKDYFYTHT ACDANGETQL 
       360        370        380        390        400
MYKWAKPKIC SEDLEGAVKL PASGVKTHCP PCNPGFFKTN NSTCQPCPYG 
       410        420        430        440        450
SYSNGSDCTR CPAGTEPAVG FEYKWWNTLP TNMETTVLSG INFEYKGMTG 
       460        470        480        490        500
WEVAGDHIYT AAGASDNDFM ILTLVVPGFR PPQSVMADTE NKEVARITFV 
       510        520        530        540        550
FETLCSVNCE LYFMVGVNSR TNTPVETWKG SKGKQSYTYI IEENTTTSFT 
       560        570        580        590        600
WAFQRTTFHE ASRKYTNDVA KIYSINVTNV MNGVASYCRP CALEASDVGS 
       610        620        630        640        650
SCTSCPAGYY IDRDSGTCHS CPTNTILKAH QPYGVQACVP CGPGTKNNKI 
       660        670        680        690        700
HSLCYNDCTF SRNTPTRTFN YNFSALANTV TLAGGPSFTS KGLKYFHHFT 
       710        720        730        740        750
LSLCGNQGRK MSVCTDNVTD LRIPEGESGF SKSITAYVCQ AVIIPPEVTG 
       760        770        780        790        800
YKAGVSSQPV SLADRLIGVT TDMTLDGITS PAELFHLESL GIPDVIFFYR 
       810        820        830        840        850
SNDVTQSCSS GRSTTIRVRC SPQKTVPGSL LLPGTCSDGT CDGCNFHFLW 
       860        870        880        890        900
ESAAACPLCS VADYHAIVSS CVAGIQKTTY VWREPKLCSG GISLPEQRVT 
       910        920        930        940        950
ICKTIDFWLK VGISAGTCTA ILLTVLTCYF WKKNQKLEYK YSKLVMNATL 
       960        970        980        990       1000
KDCDLPAADS CAIMEGEDVE DDLIFTSKKS LFGKIKSFTS KRTPDGFDSV 
      1010 
PLKTSSGGLD MDL
Length:1,013
Mass (Da):111,382
Last modified:May 15, 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:i875440C1946582A7
GO
Isoform 2 (identifier: Q6UXG2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     992-1013: RTPDGFDSVPLKTSSGGLDMDL → FKDS

Show »
Length:995
Mass (Da):109,569
Checksum:i29FE1588BDA804F7
GO
Isoform 3 (identifier: Q6UXG2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     261-347: Missing.

Show »
Length:926
Mass (Da):101,974
Checksum:iE9A63508868186CF
GO
Isoform 4 (identifier: Q6UXG2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     992-1013: RTPDGFDSVPLKTSSGGLDMDL → QPAPVTISLSEDS

Show »
Length:1,004
Mass (Da):110,416
Checksum:iFEE6C175B7C1A3C7
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PB18E9PB18_HUMAN
Endosome/lysosome-associated apopto...
ELAPOR1
901Annotation score:

Annotation score:2 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>
E9PLQ2E9PLQ2_HUMAN
Endosome/lysosome-associated apopto...
ELAPOR1
205Annotation 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>
E9PMS2E9PMS2_HUMAN
Endosome/lysosome-associated apopto...
ELAPOR1
91Annotation 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>
E9PS21E9PS21_HUMAN
Endosome/lysosome-associated apopto...
ELAPOR1
152Annotation 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>
E9PLY8E9PLY8_HUMAN
Endosome/lysosome-associated apopto...
ELAPOR1
155Annotation 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>
H0YDD2H0YDD2_HUMAN
Endosome/lysosome-associated apopto...
ELAPOR1
82Annotation 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>
E9PIF6E9PIF6_HUMAN
Endosome/lysosome-associated apopto...
ELAPOR1
62Annotation 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>

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 conflicti239N → K in AAI25209 (PubMed:15489334).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_03213886I → V2 PublicationsCorresponds to variant dbSNP:rs678238Ensembl.1
Natural variantiVAR_032139623T → P3 PublicationsCorresponds to variant dbSNP:rs659543Ensembl.1
Natural variantiVAR_035751829S → R in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0321401009L → P1 PublicationCorresponds to variant dbSNP:rs1052878Ensembl.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_025115261 – 347Missing in isoform 3. 1 PublicationAdd BLAST87
Alternative sequenceiVSP_025116992 – 1013RTPDG…LDMDL → FKDS in isoform 2. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_025117992 – 1013RTPDG…LDMDL → QPAPVTISLSEDS in isoform 4. 1 PublicationAdd BLAST22

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AY358366 mRNA Translation: AAQ88732.1
AL138933 Genomic DNA No translation available.
AL356389 Genomic DNA No translation available.
BC125208 mRNA Translation: AAI25209.1
AB037745 mRNA Translation: BAA92562.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS58015.1 [Q6UXG2-3]
CCDS794.1 [Q6UXG2-1]

NCBI Reference Sequences

More...RefSeqi		NP_001253977.1, NM_001267048.1 [Q6UXG2-3]
NP_065826.2, NM_020775.4 [Q6UXG2-1]
XP_011540127.1, XM_011541825.1 [Q6UXG2-4]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000369939; ENSP00000358955; ENSG00000116299 [Q6UXG2-1]
ENST00000529753; ENSP00000434595; ENSG00000116299 [Q6UXG2-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		57535

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:57535

UCSC genome browser

More...UCSCi		uc009wey.4, human [Q6UXG2-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AY358366 mRNA Translation: AAQ88732.1
AL138933 Genomic DNA No translation available.
AL356389 Genomic DNA No translation available.
BC125208 mRNA Translation: AAI25209.1
AB037745 mRNA Translation: BAA92562.1
CCDSiCCDS58015.1 [Q6UXG2-3]
CCDS794.1 [Q6UXG2-1]
RefSeqiNP_001253977.1, NM_001267048.1 [Q6UXG2-3]
NP_065826.2, NM_020775.4 [Q6UXG2-1]
XP_011540127.1, XM_011541825.1 [Q6UXG2-4]

3D structure databases

SMRiQ6UXG2
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi121594, 15 interactors
IntActiQ6UXG2, 12 interactors
STRINGi9606.ENSP00000358955

PTM databases

GlyConnecti1884, 12 N-Linked glycans (3 sites)
GlyGeniQ6UXG2, 8 sites, 1 N-linked glycan (1 site)
iPTMnetiQ6UXG2
PhosphoSitePlusiQ6UXG2

Genetic variation databases

BioMutaiKIAA1324
DMDMi147647000

Proteomic databases

EPDiQ6UXG2
jPOSTiQ6UXG2
MassIVEiQ6UXG2
MaxQBiQ6UXG2
PaxDbiQ6UXG2
PeptideAtlasiQ6UXG2
PRIDEiQ6UXG2
ProteomicsDBi67605 [Q6UXG2-1]
67606 [Q6UXG2-2]
67607 [Q6UXG2-3]
67608 [Q6UXG2-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		33748, 179 antibodies

Genome annotation databases

EnsembliENST00000369939; ENSP00000358955; ENSG00000116299 [Q6UXG2-1]
ENST00000529753; ENSP00000434595; ENSG00000116299 [Q6UXG2-3]
GeneIDi57535
KEGGihsa:57535
UCSCiuc009wey.4, human [Q6UXG2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		57535
DisGeNETi57535

GeneCards: human genes, protein and diseases

More...GeneCardsi		ELAPOR1
HGNCiHGNC:29618, ELAPOR1
HPAiENSG00000116299, Tissue enhanced (pancreas, salivary gland)
MIMi611298, gene
neXtProtiNX_Q6UXG2
OpenTargetsiENSG00000116299
PharmGKBiPA142671607
VEuPathDBiHostDB:ENSG00000116299.16

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1217, Eukaryota
GeneTreeiENSGT00940000156861
HOGENOMiCLU_005066_0_0_1
InParanoidiQ6UXG2
OMAiFWKKTRK
OrthoDBi192139at2759
PhylomeDBiQ6UXG2
TreeFamiTF315906

Enzyme and pathway databases

PathwayCommonsiQ6UXG2

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		57535, 5 hits in 992 CRISPR screens

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

More...ChiTaRSi		KIAA1324, human

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

More...GenomeRNAii		57535
PharosiQ6UXG2, Tbio

Protein Ontology

More...PROi		PR:Q6UXG2
RNActiQ6UXG2, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000116299, Expressed in parotid gland and 172 other tissues
ExpressionAtlasiQ6UXG2, baseline and differential
GenevisibleiQ6UXG2, HS

Family and domain databases

InterProiView protein in InterPro
IPR039181, EIG121-like
IPR009030, Growth_fac_rcpt_cys_sf
PANTHERiPTHR22727, PTHR22727, 1 hit
SUPFAMiSSF57184, SSF57184, 2 hits
PROSITEiView protein in PROSITE
PS51914, MRH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...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 nameiELAP1_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: Q6UXG2
Secondary accession number(s): Q08AE6
, Q5T5C9, Q5T5D0, Q5T5D1, Q9P2M2
<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: May 15, 2007
Last sequence update: May 15, 2007
Last modified: April 7, 2021
This is version 140 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

Reference proteome

Documents

  1. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with genetic variants
    List of human entries with genetic variants
  4. Human variants curated from literature reports
    Index of human variants curated from literature reports
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families
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