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Entry version 178 (13 Nov 2019)
Sequence version 1 (01 Mar 2003)
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Protein

ELKS/Rab6-interacting/CAST family member 1

Gene

ERC1

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

Regulatory subunit of the IKK complex. Probably recruits IkappaBalpha/NFKBIA to the complex. May be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. May be involved in vesicle trafficking at the CAZ. May be involved in Rab-6 regulated endosomes to Golgi transport.1 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

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 processProtein transport, Transport

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q8IUD2

<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:
ELKS/Rab6-interacting/CAST family member 1
Short name:
ERC-1
Alternative name(s):
Rab6-interacting protein 2
<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:ERC1
Synonyms:ELKS, KIAA1081, RAB6IP2
<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 12

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:17072 ERC1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607127 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8IUD2

<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 junction, Cell membrane, Cell projection, Cytoplasm, Cytoskeleton, Golgi apparatus, Membrane, Synapse

<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

A chromosomal aberration involving ERC1/RAB6IP2 is found in papillary thyroid carcinomas (PTCs). Translocation t(10;12)(q11;p13) involving RET. In vitro, isoform 1, isoform 3 and isoform 5 participating in a ERC1-RET fusion protein activate tyrosine-protein kinase activity.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei719 – 720Breakpoint for translocation to form ERC1-RET oncogene2

Organism-specific databases

DisGeNET

More...
DisGeNETi
23085

MalaCards human disease database

More...
MalaCardsi
ERC1

Open Targets

More...
OpenTargetsi
ENSG00000082805

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
146 Differentiated thyroid carcinoma
280325 Distal monosomy 12p

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134970875

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8IUD2

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ERC1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
51827892

<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_00000971761 – 1116ELKS/Rab6-interacting/CAST family member 1Add BLAST1116

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 residuei10N6-acetyllysineBy similarity1
Modified residuei17PhosphoserineCombined sources1
Modified residuei21PhosphoserineCombined sources1
Modified residuei37PhosphoserineCombined sources1
Modified residuei38PhosphothreonineCombined sources1
Modified residuei55PhosphoserineBy similarity1
Modified residuei75PhosphoserineCombined sources1
Modified residuei94PhosphoserineCombined sources1
Modified residuei1005PhosphoserineBy similarity1
Modified residuei1046PhosphothreonineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8IUD2

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8IUD2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8IUD2

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8IUD2

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

More...
PaxDbi
Q8IUD2

PeptideAtlas

More...
PeptideAtlasi
Q8IUD2

PRoteomics IDEntifications database

More...
PRIDEi
Q8IUD2

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
70547 [Q8IUD2-1]
70548 [Q8IUD2-2]
70549 [Q8IUD2-3]
70550 [Q8IUD2-4]
70551 [Q8IUD2-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8IUD2

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

More...
PhosphoSitePlusi
Q8IUD2

<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

Widely expressed. Isoform 2 and isoform 4 are abundantly expressed in brain. Isoform 1 and isoform 3 are predominantly expressed in testis and thyroid, and isoform 1 predominates in other tissues tested.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000082805 Expressed in 217 organ(s), highest expression level in corpus callosum

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8IUD2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8IUD2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA019513
HPA019523
HPA024130

<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">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Part of a complex with CHUK, IKBKB and IKBKG.

Interacts with CHUK, IKBKB and IKBKG. The interaction with IKBKG is independent of CHUK and IKBKB.

Interacts with NFKBIA.

Isoform 4 interacts with PPFIA1, and through its C-terminus with the PDZ domains of RIMS1 and RIMS2.

Interacts with ERC2/CAST1.

Interacts with the GTB-bound forms of RAB6A isoform 1 and isoform 2 and with RAB6B. The interaction was strongest with RAB6B, followed by RAB6A isoform 2 and weakest with RAB6A isoform 1 (By similarity).

Interacts with SDCCAG8.

By similarity1 Publication

<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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
116714, 79 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q8IUD2

Protein interaction database and analysis system

More...
IntActi
Q8IUD2, 54 interactors

Molecular INTeraction database

More...
MINTi
Q8IUD2

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000468263

<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
Q8IUD2

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_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>Domaini1046 – 1108FIP-RBDPROSITE-ProRule annotationAdd BLAST63

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 coili144 – 988Sequence analysisAdd BLAST845
Coiled coili1060 – 1100Sequence analysisAdd BLAST41

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4809 Eukaryota
ENOG410Y4GU LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00650000093320

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8IUD2

KEGG Orthology (KO)

More...
KOi
K16072

Database of Orthologous Groups

More...
OrthoDBi
1095345at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8IUD2

TreeFam database of animal gene trees

More...
TreeFami
TF324969

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR019323 ELKS/CAST
IPR037245 FIP-RBD_C_sf
IPR019018 Rab-bd_FIP-RBD

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF10174 Cast, 3 hits
PF09457 RBD-FIP, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF144270 SSF144270, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51511 FIP_RBD, 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_length">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 (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 13 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8IUD2-1) [UniParc]FASTAAdd to basket
Also known as: ELKS epsilon

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
MYGSARSVGK VEPSSQSPGR SPRLPRSPRL GHRRTNSTGG SSGSSVGGGS
60 70 80 90 100
GKTLSMENIQ SLNAAYATSG PMYLSDHENV GSETPKSTMT LGRSGGRLPY
110 120 130 140 150
GVRMTAMGSS PNIASSGVAS DTIAFGEHHL PPVSMASTVP HSLRQARDNT
160 170 180 190 200
IMDLQTQLKE VLRENDLLRK DVEVKESKLS SSMNSIKTFW SPELKKERAL
210 220 230 240 250
RKDEASKITI WKEQYRVVQE ENQHMQMTIQ ALQDELRIQR DLNQLFQQDS
260 270 280 290 300
SSRTGEPCVA ELTEENFQRL HAEHERQAKE LFLLRKTLEE MELRIETQKQ
310 320 330 340 350
TLNARDESIK KLLEMLQSKG LSAKATEEDH ERTRRLAEAE MHVHHLESLL
360 370 380 390 400
EQKEKENSML REEMHRRFEN APDSAKTKAL QTVIEMKDSK ISSMERGLRD
410 420 430 440 450
LEEEIQMLKS NGALSTEERE EEMKQMEVYR SHSKFMKNKV EQLKEELSSK
460 470 480 490 500
EAQWEELKKK AAGLQAEIGQ VKQELSRKDT ELLALQTKLE TLTNQFSDSK
510 520 530 540 550
QHIEVLKESL TAKEQRAAIL QTEVDALRLR LEEKETMLNK KTKQIQDMAE
560 570 580 590 600
EKGTQAGEIH DLKDMLDVKE RKVNVLQKKI ENLQEQLRDK EKQMSSLKER
610 620 630 640 650
VKSLQADTTN TDTALTTLEE ALAEKERTIE RLKEQRDRDE REKQEEIDNY
660 670 680 690 700
KKDLKDLKEK VSLLQGDLSE KEASLLDLKE HASSLASSGL KKDSRLKTLE
710 720 730 740 750
IALEQKKEEC LKMESQLKKA HEAALEARAS PEMSDRIQHL EREITRYKDE
760 770 780 790 800
SSKAQAEVDR LLEILKEVEN EKNDKDKKIA ELERQVKDQN KKVANLKHKE
810 820 830 840 850
QVEKKKSAQM LEEARRREDN LNDSSQQLQD SLRKKDDRIE ELEEALRESV
860 870 880 890 900
QITAEREMVL AQEESARTNA EKQVEELLMA MEKVKQELES MKAKLSSTQQ
910 920 930 940 950
SLAEKETHLT NLRAERRKHL EEVLEMKQEA LLAAISEKDA NIALLELSSS
960 970 980 990 1000
KKKTQEEVAA LKREKDRLVQ QLKQQTQNRM KLMADNYEDD HFKSSHSNQT
1010 1020 1030 1040 1050
NHKPSPDQII QPLLELDQNR SKLKLYIGHL TTLCHDRDPL ILRGLTPPAS
1060 1070 1080 1090 1100
YNLDDDQAAW ENELQKMTRG QLQDELEKGE RDNAELQEFA NAILQQIADH
1110
CPDILEQVVN ALEESS
Length:1,116
Mass (Da):128,086
Last modified:March 1, 2003 - v1
<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:iCCB70380AA7C6E69
GO
Isoform 2 (identifier: Q8IUD2-2) [UniParc]FASTAAdd to basket
Also known as: ELKS beta

The sequence of this isoform differs from the canonical sequence as follows:
     440-467: Missing.
     783-783: E → ESLTS
     1009-1016: IIQPLLEL → DEEEGIWA
     1017-1116: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:992
Mass (Da):113,920
Checksum:i049A5831DC5F79B4
GO
Isoform 3 (identifier: Q8IUD2-3) [UniParc]FASTAAdd to basket
Also known as: ELKS delta

The sequence of this isoform differs from the canonical sequence as follows:
     440-467: Missing.

Show »
Length:1,088
Mass (Da):124,904
Checksum:i52AF9DDF5720A2CB
GO
Isoform 4 (identifier: Q8IUD2-4) [UniParc]FASTAAdd to basket
Also known as: ELKS alpha

The sequence of this isoform differs from the canonical sequence as follows:
     440-467: Missing.
     783-783: E → ESLTS
     830-873: Missing.
     1009-1016: IIQPLLEL → DEEEGIWA
     1017-1116: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:948
Mass (Da):108,793
Checksum:i344297FDFC9F7602
GO
Isoform 5 (identifier: Q8IUD2-5) [UniParc]FASTAAdd to basket
Also known as: ELKS gamma

The sequence of this isoform differs from the canonical sequence as follows:
     224-523: Missing.
     783-783: E → ESLTS
     1009-1016: IIQPLLEL → DEEEGIWA
     1017-1116: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:720
Mass (Da):81,967
Checksum:i1CD24193AFA919A5
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 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
X6RLX0X6RLX0_HUMAN
ELKS/Rab6-interacting/CAST family m...
ERC1
1,120Annotation 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>
G8JLD3G8JLD3_HUMAN
ELKS/Rab6-interacting/CAST family m...
ERC1
1,086Annotation 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>
X6RM00X6RM00_HUMAN
ELKS/Rab6-interacting/CAST family m...
ERC1
976Annotation 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>
K7EPD6K7EPD6_HUMAN
ELKS/Rab6-interacting/CAST family m...
ERC1
285Annotation 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>
A0A0U1RQN0A0A0U1RQN0_HUMAN
ELKS/Rab6-interacting/CAST family m...
ERC1
285Annotation 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>
K7EIZ7K7EIZ7_HUMAN
ELKS/Rab6-interacting/CAST family m...
ERC1
145Annotation 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>
K7EKH8K7EKH8_HUMAN
ELKS/Rab6-interacting/CAST family m...
ERC1
89Annotation 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>
A0A0U1RQD6A0A0U1RQD6_HUMAN
ELKS/Rab6-interacting/CAST family m...
ERC1
145Annotation 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>
A0A0U1RRM0A0A0U1RRM0_HUMAN
ELKS/Rab6-interacting/CAST family m...
ERC1
89Annotation 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>
K7EPP6K7EPP6_HUMAN
ELKS/Rab6-interacting/CAST family m...
ERC1
344Annotation 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>
There are more potential isoformsShow all

<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 AAH68006 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence BAA83033 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAA90975 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 conflicti828L → G in BAA90975 (PubMed:14702039).Curated1
Sequence conflicti892K → R in BAC03827 (PubMed:14702039).Curated1
Sequence conflicti910T → I in BAC03827 (PubMed:14702039).Curated1
Sequence conflicti1021S → G in BAA90975 (PubMed:14702039).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_05130450S → G. Corresponds to variant dbSNP:rs35037408Ensembl.1
Natural variantiVAR_0513051032T → A. Corresponds to variant dbSNP:rs12319376Ensembl.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_011450224 – 523Missing in isoform 5. 1 PublicationAdd BLAST300
Alternative sequenceiVSP_011451440 – 467Missing in isoform 2, isoform 3 and isoform 4. 5 PublicationsAdd BLAST28
Alternative sequenceiVSP_011452783E → ESLTS in isoform 2, isoform 4 and isoform 5. 5 Publications1
Alternative sequenceiVSP_011453830 – 873Missing in isoform 4. 1 PublicationAdd BLAST44
Alternative sequenceiVSP_0114541009 – 1016IIQPLLEL → DEEEGIWA in isoform 2, isoform 4 and isoform 5. 5 Publications8
Alternative sequenceiVSP_0114551017 – 1116Missing in isoform 2, isoform 4 and isoform 5. 5 PublicationsAdd BLAST100

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
AB015617 mRNA Translation: BAA88763.1
AB053469 mRNA Translation: BAC54108.1
AB053468 mRNA Translation: BAC54107.1
AB053470 mRNA Translation: BAC54109.1
AB053471 mRNA Translation: BAC54110.1
CH471116 Genomic DNA Translation: EAW88932.1
CH471116 Genomic DNA Translation: EAW88934.1
CH471116 Genomic DNA Translation: EAW88936.1
CH471116 Genomic DNA Translation: EAW88938.1
BC068006 mRNA Translation: AAH68006.1 Sequence problems.
BC132782 mRNA Translation: AAI32783.1
BC132784 mRNA Translation: AAI32785.1
BC150248 mRNA Translation: AAI50249.1
AB029004 mRNA Translation: BAA83033.2 Different initiation.
AK000148 mRNA Translation: BAA90975.1 Different initiation.
AK092201 mRNA Translation: BAC03827.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS53732.1 [Q8IUD2-3]
CCDS8508.1 [Q8IUD2-1]

NCBI Reference Sequences

More...
RefSeqi
NP_829883.1, NM_178039.3 [Q8IUD2-3]
NP_829884.1, NM_178040.3 [Q8IUD2-1]
XP_011519243.1, XM_011520941.2 [Q8IUD2-1]
XP_016874553.1, XM_017019064.1 [Q8IUD2-1]
XP_016874556.1, XM_017019067.1 [Q8IUD2-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000347735; ENSP00000340054; ENSG00000082805 [Q8IUD2-4]
ENST00000360905; ENSP00000354158; ENSG00000082805 [Q8IUD2-1]
ENST00000397203; ENSP00000380386; ENSG00000082805 [Q8IUD2-3]
ENST00000440394; ENSP00000410064; ENSG00000082805 [Q8IUD2-2]
ENST00000543086; ENSP00000438546; ENSG00000082805 [Q8IUD2-3]
ENST00000545948; ENSP00000442976; ENSG00000082805 [Q8IUD2-5]
ENST00000589028; ENSP00000468263; ENSG00000082805 [Q8IUD2-1]
ENST00000611180; ENSP00000479523; ENSG00000082805 [Q8IUD2-5]
ENST00000634346; ENSP00000489059; ENSG00000283017 [Q8IUD2-4]
ENST00000634945; ENSP00000489460; ENSG00000283017 [Q8IUD2-3]
ENST00000635106; ENSP00000489601; ENSG00000283017 [Q8IUD2-5]
ENST00000635345; ENSP00000489265; ENSG00000283017 [Q8IUD2-2]
ENST00000635430; ENSP00000489361; ENSG00000283017 [Q8IUD2-1]
ENST00000635459; ENSP00000489064; ENSG00000283017 [Q8IUD2-5]
ENST00000635644; ENSP00000489120; ENSG00000283017 [Q8IUD2-1]
ENST00000635703; ENSP00000489206; ENSG00000283017 [Q8IUD2-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
23085

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:23085

UCSC genome browser

More...
UCSCi
uc001qjb.3 human [Q8IUD2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, 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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB015617 mRNA Translation: BAA88763.1
AB053469 mRNA Translation: BAC54108.1
AB053468 mRNA Translation: BAC54107.1
AB053470 mRNA Translation: BAC54109.1
AB053471 mRNA Translation: BAC54110.1
CH471116 Genomic DNA Translation: EAW88932.1
CH471116 Genomic DNA Translation: EAW88934.1
CH471116 Genomic DNA Translation: EAW88936.1
CH471116 Genomic DNA Translation: EAW88938.1
BC068006 mRNA Translation: AAH68006.1 Sequence problems.
BC132782 mRNA Translation: AAI32783.1
BC132784 mRNA Translation: AAI32785.1
BC150248 mRNA Translation: AAI50249.1
AB029004 mRNA Translation: BAA83033.2 Different initiation.
AK000148 mRNA Translation: BAA90975.1 Different initiation.
AK092201 mRNA Translation: BAC03827.1
CCDSiCCDS53732.1 [Q8IUD2-3]
CCDS8508.1 [Q8IUD2-1]
RefSeqiNP_829883.1, NM_178039.3 [Q8IUD2-3]
NP_829884.1, NM_178040.3 [Q8IUD2-1]
XP_011519243.1, XM_011520941.2 [Q8IUD2-1]
XP_016874553.1, XM_017019064.1 [Q8IUD2-1]
XP_016874556.1, XM_017019067.1 [Q8IUD2-3]

3D structure databases

SMRiQ8IUD2
ModBaseiSearch...

Protein-protein interaction databases

BioGridi116714, 79 interactors
CORUMiQ8IUD2
IntActiQ8IUD2, 54 interactors
MINTiQ8IUD2
STRINGi9606.ENSP00000468263

PTM databases

iPTMnetiQ8IUD2
PhosphoSitePlusiQ8IUD2

Polymorphism and mutation databases

BioMutaiERC1
DMDMi51827892

Proteomic databases

EPDiQ8IUD2
jPOSTiQ8IUD2
MassIVEiQ8IUD2
MaxQBiQ8IUD2
PaxDbiQ8IUD2
PeptideAtlasiQ8IUD2
PRIDEiQ8IUD2
ProteomicsDBi70547 [Q8IUD2-1]
70548 [Q8IUD2-2]
70549 [Q8IUD2-3]
70550 [Q8IUD2-4]
70551 [Q8IUD2-5]

Genome annotation databases

EnsembliENST00000347735; ENSP00000340054; ENSG00000082805 [Q8IUD2-4]
ENST00000360905; ENSP00000354158; ENSG00000082805 [Q8IUD2-1]
ENST00000397203; ENSP00000380386; ENSG00000082805 [Q8IUD2-3]
ENST00000440394; ENSP00000410064; ENSG00000082805 [Q8IUD2-2]
ENST00000543086; ENSP00000438546; ENSG00000082805 [Q8IUD2-3]
ENST00000545948; ENSP00000442976; ENSG00000082805 [Q8IUD2-5]
ENST00000589028; ENSP00000468263; ENSG00000082805 [Q8IUD2-1]
ENST00000611180; ENSP00000479523; ENSG00000082805 [Q8IUD2-5]
ENST00000634346; ENSP00000489059; ENSG00000283017 [Q8IUD2-4]
ENST00000634945; ENSP00000489460; ENSG00000283017 [Q8IUD2-3]
ENST00000635106; ENSP00000489601; ENSG00000283017 [Q8IUD2-5]
ENST00000635345; ENSP00000489265; ENSG00000283017 [Q8IUD2-2]
ENST00000635430; ENSP00000489361; ENSG00000283017 [Q8IUD2-1]
ENST00000635459; ENSP00000489064; ENSG00000283017 [Q8IUD2-5]
ENST00000635644; ENSP00000489120; ENSG00000283017 [Q8IUD2-1]
ENST00000635703; ENSP00000489206; ENSG00000283017 [Q8IUD2-3]
GeneIDi23085
KEGGihsa:23085
UCSCiuc001qjb.3 human [Q8IUD2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
23085
DisGeNETi23085

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ERC1
HGNCiHGNC:17072 ERC1
HPAiHPA019513
HPA019523
HPA024130
MalaCardsiERC1
MIMi607127 gene
neXtProtiNX_Q8IUD2
OpenTargetsiENSG00000082805
Orphaneti146 Differentiated thyroid carcinoma
280325 Distal monosomy 12p
PharmGKBiPA134970875

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4809 Eukaryota
ENOG410Y4GU LUCA
GeneTreeiENSGT00650000093320
InParanoidiQ8IUD2
KOiK16072
OrthoDBi1095345at2759
PhylomeDBiQ8IUD2
TreeFamiTF324969

Enzyme and pathway databases

SIGNORiQ8IUD2

Miscellaneous databases

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

More...
ChiTaRSi
ERC1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ERC1

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

More...
GenomeRNAii
23085
PharosiQ8IUD2

Protein Ontology

More...
PROi
PR:Q8IUD2

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000082805 Expressed in 217 organ(s), highest expression level in corpus callosum
ExpressionAtlasiQ8IUD2 baseline and differential
GenevisibleiQ8IUD2 HS

Family and domain databases

InterProiView protein in InterPro
IPR019323 ELKS/CAST
IPR037245 FIP-RBD_C_sf
IPR019018 Rab-bd_FIP-RBD
PfamiView protein in Pfam
PF10174 Cast, 3 hits
PF09457 RBD-FIP, 1 hit
SUPFAMiSSF144270 SSF144270, 1 hit
PROSITEiView protein in PROSITE
PS51511 FIP_RBD, 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 nameiRB6I2_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: Q8IUD2
Secondary accession number(s): A2RU77
, A7E295, D3DUP7, D3DUP8, Q6NVK2, Q8IUD3, Q8IUD4, Q8IUD5, Q8NAS1, Q9NXN5, Q9UIK7, Q9UPS1
<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: August 31, 2004
Last sequence update: March 1, 2003
Last modified: November 13, 2019
This is version 178 of the entry and version 1 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: 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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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