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Entry version 172 (13 Feb 2019)
Sequence version 2 (10 Jan 2006)
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Protein

Arginine-glutamic acid dipeptide repeats protein

Gene

RERE

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

Plays a role as a transcriptional repressor during development. May play a role in the control of cell survival. Overexpression of RERE recruits BAX to the nucleus particularly to POD and triggers caspase-3 activation, leading to cell death.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri507 – 532GATA-typeAdd BLAST26

<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

Molecular functionDevelopmental protein, Repressor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

<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:
Arginine-glutamic acid dipeptide repeats protein
Alternative name(s):
Atrophin-1-like protein
Atrophin-1-related protein
<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:RERE
Synonyms:ARG, ARP, ATN1L, KIAA0458
<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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000142599.17

Human Gene Nomenclature Database

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HGNCi
HGNC:9965 RERE

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605226 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9P2R6

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

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

Keywords - Cellular componenti

Nucleus

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

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

A chromosomal aberration involving RERE is found in the neuroblastoma cell line NGP. Translocation t(1;15)(p36.2;q24).
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant syndrome characterized by developmental delay, intellectual disability, brain anomalies, and neurological abnormalities including seizures, hypotonia, and behavioral problems such as autism spectrum disorders. Brain anomalies include abnormalities and/or thinning of the corpus callosum, diminished white matter volume, abnormal cerebellar vermis, and ventriculomegaly. Congenital defects of the eye, heart and genitourinary system are present in half of the patients.
See also OMIM:616975
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_077007471V → I in NEDBEH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs765016528Ensembl.1
Natural variantiVAR_0770081156G → R in NEDBEH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs766951273EnsemblClinVar.1
Natural variantiVAR_0770091262P → R in NEDBEH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs878853270EnsemblClinVar.1
Natural variantiVAR_0770101431H → Q in NEDBEH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs869312871EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
473

MalaCards human disease database

More...
MalaCardsi
RERE
MIMi616975 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000142599

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

More...
Orphaneti
1606 1p36 deletion syndrome
494344 RERE-related neurodevelopmental syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA34332

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RERE

Domain mapping of disease mutations (DMDM)

More...
DMDMi
85540730

<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_00000835041 – 1566Arginine-glutamic acid dipeptide repeats proteinAdd BLAST1566

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 residuei53PhosphoserineCombined sources1
Modified residuei56PhosphoserineCombined sources1
Modified residuei120PhosphothreonineCombined sources1
Modified residuei142PhosphoserineBy similarity1
Modified residuei304PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki560Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei594PhosphoserineCombined sources1
Modified residuei600PhosphoserineCombined sources1
Modified residuei613PhosphoserineCombined sources1
Cross-linki637Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei642PhosphoserineCombined sources1
Modified residuei656PhosphoserineCombined sources1
Modified residuei675PhosphoserineCombined sources1
Modified residuei679PhosphoserineCombined sources1
Modified residuei1106PhosphoserineCombined sources1
Modified residuei1113PhosphoserineCombined sources1
Modified residuei1115PhosphoserineBy similarity1
Modified residuei1119PhosphothreonineCombined sources1
Modified residuei1158N6-acetyllysineBy similarity1
Modified residuei1259PhosphotyrosineCombined sources1
Modified residuei1266PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9P2R6

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9P2R6

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9P2R6

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

More...
PaxDbi
Q9P2R6

PeptideAtlas

More...
PeptideAtlasi
Q9P2R6

PRoteomics IDEntifications database

More...
PRIDEi
Q9P2R6

ProteomicsDB human proteome resource

More...
ProteomicsDBi
83883
83884 [Q9P2R6-2]

PTM databases

CarbonylDB database of protein carbonylation sites

More...
CarbonylDBi
Q9P2R6

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9P2R6

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

More...
PhosphoSitePlusi
Q9P2R6

<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. Expressed in tumor cell lines.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000142599 Expressed in 239 organ(s), highest expression level in corpus callosum

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9P2R6 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9P2R6 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA024093

<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

Interacts with HDAC1 (By similarity). Interacts with ATN1. Interaction with ATN1 is improved when the poly-Gln region of ATN1 is extended. Interacts with FAT1.By similarity2 Publications

<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
106963, 33 interactors

Database of interacting proteins

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DIPi
DIP-47606N

Protein interaction database and analysis system

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IntActi
Q9P2R6, 30 interactors

Molecular INTeraction database

More...
MINTi
Q9P2R6

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000338629

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

Secondary structure

11566
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YQKNMR-A392-441[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9P2R6

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

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SMRi
Q9P2R6

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9P2R6

<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>Domaini103 – 283BAHPROSITE-ProRule annotationAdd BLAST181
Domaini284 – 387ELM2PROSITE-ProRule annotationAdd BLAST104
Domaini391 – 443SANTPROSITE-ProRule annotationAdd BLAST53

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 coili1156 – 1211Sequence analysisAdd BLAST56

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi738 – 1118Pro-richAdd BLAST381
Compositional biasi1179 – 1204Arg/Glu-rich (mixed charge)Add BLAST26
Compositional biasi1300 – 1322Arg/Glu-rich (mixed charge)Add BLAST23
Compositional biasi1425 – 1445His-richAdd BLAST21
Compositional biasi1451 – 1510Pro-richAdd BLAST60

<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

The interaction with ATN1 is mediated by the coiled coil domain.

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri507 – 532GATA-typeAdd BLAST26

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2133 Eukaryota
ENOG410ZIND LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000153615

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231091

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG079774

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9P2R6

KEGG Orthology (KO)

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KOi
K05628

Identification of Orthologs from Complete Genome Data

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OMAi
QSHKHPP

Database of Orthologous Groups

More...
OrthoDBi
136778at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9P2R6

TreeFam database of animal gene trees

More...
TreeFami
TF328554

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00202 ZnF_GATA, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR002951 Atrophin-like
IPR001025 BAH_dom
IPR000949 ELM2_dom
IPR009057 Homeobox-like_sf
IPR001005 SANT/Myb
IPR017884 SANT_dom
IPR000679 Znf_GATA

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF03154 Atrophin-1, 1 hit
PF01426 BAH, 1 hit
PF01448 ELM2, 1 hit
PF00320 GATA, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00439 BAH, 1 hit
SM01189 ELM2, 1 hit
SM00717 SANT, 1 hit
SM00401 ZnF_GATA, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF46689 SSF46689, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51038 BAH, 1 hit
PS51156 ELM2, 1 hit
PS51293 SANT, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)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 2 <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
Note: Additional isoforms seem to exist.

This entry has 2 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9P2R6-1) [UniParc]FASTAAdd to basket

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

« Hide
        10         20         30         40         50
MTADKDKDKD KEKDRDRDRD REREKRDKAR ESENSRPRRS CTLEGGAKNY
60 70 80 90 100
AESDHSEDED NDNNSATAEE STKKNKKKPP KKKSRYERTD TGEITSYITE
110 120 130 140 150
DDVVYRPGDC VYIESRRPNT PYFICSIQDF KLVHNSQACC RSPTPALCDP
160 170 180 190 200
PACSLPVASQ PPQHLSEAGR GPVGSKRDHL LMNVKWYYRQ SEVPDSVYQH
210 220 230 240 250
LVQDRHNEND SGRELVITDP VIKNRELFIS DYVDTYHAAA LRGKCNISHF
260 270 280 290 300
SDIFAAREFK ARVDSFFYIL GYNPETRRLN STQGEIRVGP SHQAKLPDLQ
310 320 330 340 350
PFPSPDGDTV TQHEELVWMP GVNDCDLLMY LRAARSMAAF AGMCDGGSTE
360 370 380 390 400
DGCVAASRDD TTLNALNTLH ESGYDAGKAL QRLVKKPVPK LIEKCWTEDE
410 420 430 440 450
VKRFVKGLRQ YGKNFFRIRK ELLPNKETGE LITFYYYWKK TPEAASSRAH
460 470 480 490 500
RRHRRQAVFR RIKTRTASTP VNTPSRPPSS EFLDLSSASE DDFDSEDSEQ
510 520 530 540 550
ELKGYACRHC FTTTSKDWHH GGRENILLCT DCRIHFKKYG ELPPIEKPVD
560 570 580 590 600
PPPFMFKPVK EEDDGLSGKH SMRTRRSRGS MSTLRSGRKK QPASPDGRTS
610 620 630 640 650
PINEDIRSSG RNSPSAASTS SNDSKAETVK KSAKKVKEEA SSPLKSNKRQ
660 670 680 690 700
REKVASDTEE ADRTSSKKTK TQEISRPNSP SEGEGESSDS RSVNDEGSSD
710 720 730 740 750
PKDIDQDNRS TSPSIPSPQD NESDSDSSAQ QQMLQAQPPA LQAPTGVTPA
760 770 780 790 800
PSSAPPGTPQ LPTPGPTPSA TAVPPQGSPT ASQAPNQPQA PTAPVPHTHI
810 820 830 840 850
QQAPALHPQR PPSPHPPPHP SPHPPLQPLT GSAGQPSAPS HAQPPLHGQG
860 870 880 890 900
PPGPHSLQAG PLLQHPGPPQ PFGLPPQASQ GQAPLGTSPA AAYPHTSLQL
910 920 930 940 950
PASQSALQSQ QPPREQPLPP APLAMPHIKP PPTTPIPQLP APQAHKHPPH
960 970 980 990 1000
LSGPSPFSMN ANLPPPPALK PLSSLSTHHP PSAHPPPLQL MPQSQPLPSS
1010 1020 1030 1040 1050
PAQPPGLTQS QNLPPPPASH PPTGLHQVAP QPPFAQHPFV PGGPPPITPP
1060 1070 1080 1090 1100
TCPSTSTPPA GPGTSAQPPC SGAAASGGSI AGGSSCPLPT VQIKEEALDD
1110 1120 1130 1140 1150
AEEPESPPPP PRSPSPEPTV VDTPSHASQS ARFYKHLDRG YNSCARTDLY
1160 1170 1180 1190 1200
FMPLAGSKLA KKREEAIEKA KREAEQKARE EREREKEKEK ERERERERER
1210 1220 1230 1240 1250
EAERAAKASS SAHEGRLSDP QLSGPGHMRP SFEPPPTTIA AVPPYIGPDT
1260 1270 1280 1290 1300
PALRTLSEYA RPHVMSPTNR NHPFYMPLNP TDPLLAYHMP GLYNVDPTIR
1310 1320 1330 1340 1350
ERELREREIR EREIRERELR ERMKPGFEVK PPELDPLHPA ANPMEHFARH
1360 1370 1380 1390 1400
SALTIPPTAG PHPFASFHPG LNPLERERLA LAGPQLRPEM SYPDRLAAER
1410 1420 1430 1440 1450
IHAERMASLT SDPLARLQMF NVTPHHHQHS HIHSHLHLHQ QDPLHQGSAG
1460 1470 1480 1490 1500
PVHPLVDPLT AGPHLARFPY PPGTLPNPLL GQPPHEHEML RHPVFGTPYP
1510 1520 1530 1540 1550
RDLPGAIPPP MSAAHQLQAM HAQSAELQRL AMEQQWLHGH PHMHGGHLPS
1560
QEDYYSRLKK EGDKQL
Length:1,566
Mass (Da):172,424
Last modified:January 10, 2006 - 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:iECA4A22026E3E96F
GO
Isoform 2 (identifier: Q9P2R6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-554: Missing.

Show »
Length:1,012
Mass (Da):109,048
Checksum:i54B60DCBF0FB85FE
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1AKN3B1AKN3_HUMAN
Arginine-glutamic acid dipeptide (R...
RERE hCG_2008872
1,298Annotation 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>
H7BYW9H7BYW9_HUMAN
Arginine-glutamic acid dipeptide re...
RERE
584Annotation 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>
A0A075B770A0A075B770_HUMAN
Arginine-glutamic acid dipeptide re...
RERE
213Annotation 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>
H0Y975H0Y975_HUMAN
Arginine-glutamic acid dipeptide re...
RERE
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>
D6RA28D6RA28_HUMAN
Arginine-glutamic acid dipeptide re...
RERE
177Annotation 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>
K7EIE3K7EIE3_HUMAN
Arginine-glutamic acid dipeptide re...
RERE
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>
K7EIQ4K7EIQ4_HUMAN
Arginine-glutamic acid dipeptide re...
RERE
26Annotation 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>
K7EJQ1K7EJQ1_HUMAN
Arginine-glutamic acid dipeptide re...
RERE
35Annotation 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 AAC31120 differs from that shown. Reason: Frameshift at positions 588 and 596.Curated
The sequence AAD27584 differs from that shown. Reason: Erroneous initiation.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 conflicti65S → G in BAA95898 (PubMed:10814707).Curated1
Sequence conflicti68A → T in BAA95898 (PubMed:10814707).Curated1
Sequence conflicti114 – 115ES → VC in BAA95898 (PubMed:10814707).Curated2
Sequence conflicti643P → L in AAC31120 (Ref. 3) Curated1
Sequence conflicti921A → G in BAA95898 (PubMed:10814707).Curated1
Sequence conflicti940P → A in BAA95898 (PubMed:10814707).Curated1
Sequence conflicti957F → L in AAD27584 (PubMed:10729226).Curated1
Sequence conflicti977T → K no nucleotide entry (PubMed:11331249).Curated1
Sequence conflicti984H → N no nucleotide entry (PubMed:11331249).Curated1
Sequence conflicti1009 – 1011QSQ → RTR in AAD27584 (PubMed:10729226).Curated3
Sequence conflicti1117E → D in AAD27584 (PubMed:10729226).Curated1
Sequence conflicti1272H → Q in AAD27584 (PubMed:10729226).Curated1
Sequence conflicti1489 – 1490ML → IV in BAA95898 (PubMed:10814707).Curated2
Sequence conflicti1529R → K in AAD27584 (PubMed:10729226).Curated1
Sequence conflicti1536W → C in AAD27584 (PubMed:10729226).Curated1
Sequence conflicti1543M → R in AAD27584 (PubMed:10729226).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077007471V → I in NEDBEH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs765016528Ensembl.1
Natural variantiVAR_0770081156G → R in NEDBEH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs766951273EnsemblClinVar.1
Natural variantiVAR_0770091262P → R in NEDBEH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs878853270EnsemblClinVar.1
Natural variantiVAR_0770101431H → Q in NEDBEH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs869312871EnsemblClinVar.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_0168781 – 554Missing in isoform 2. 1 PublicationAdd BLAST554

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
AB036737 mRNA Translation: BAA95898.1
AF016005 mRNA Translation: AAC31120.1 Frameshift.
AF041104
, AF041096, AF041097, AF041098, AF041099, AF041100, AF041101, AF041102, AF041103 Genomic DNA Translation: AAC28264.1
AL356072 Genomic DNA No translation available.
AL357713 Genomic DNA No translation available.
AL096855 Genomic DNA No translation available.
AB007927 mRNA Translation: BAA32303.3
AF118275 mRNA Translation: AAD27584.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS41243.1 [Q9P2R6-2]
CCDS95.1 [Q9P2R6-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001036146.1, NM_001042681.1 [Q9P2R6-1]
NP_001036147.1, NM_001042682.1 [Q9P2R6-2]
NP_036234.3, NM_012102.3 [Q9P2R6-1]
XP_005263521.1, XM_005263464.2 [Q9P2R6-1]
XP_016856847.1, XM_017001358.1 [Q9P2R6-1]
XP_016856848.1, XM_017001359.1 [Q9P2R6-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.463041

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000337907; ENSP00000338629; ENSG00000142599 [Q9P2R6-1]
ENST00000400908; ENSP00000383700; ENSG00000142599 [Q9P2R6-1]
ENST00000476556; ENSP00000422246; ENSG00000142599 [Q9P2R6-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
473

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:473

UCSC genome browser

More...
UCSCi
uc001apd.4 human [Q9P2R6-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB036737 mRNA Translation: BAA95898.1
AF016005 mRNA Translation: AAC31120.1 Frameshift.
AF041104
, AF041096, AF041097, AF041098, AF041099, AF041100, AF041101, AF041102, AF041103 Genomic DNA Translation: AAC28264.1
AL356072 Genomic DNA No translation available.
AL357713 Genomic DNA No translation available.
AL096855 Genomic DNA No translation available.
AB007927 mRNA Translation: BAA32303.3
AF118275 mRNA Translation: AAD27584.1 Different initiation.
CCDSiCCDS41243.1 [Q9P2R6-2]
CCDS95.1 [Q9P2R6-1]
RefSeqiNP_001036146.1, NM_001042681.1 [Q9P2R6-1]
NP_001036147.1, NM_001042682.1 [Q9P2R6-2]
NP_036234.3, NM_012102.3 [Q9P2R6-1]
XP_005263521.1, XM_005263464.2 [Q9P2R6-1]
XP_016856847.1, XM_017001358.1 [Q9P2R6-1]
XP_016856848.1, XM_017001359.1 [Q9P2R6-1]
UniGeneiHs.463041

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YQKNMR-A392-441[»]
ProteinModelPortaliQ9P2R6
SMRiQ9P2R6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106963, 33 interactors
DIPiDIP-47606N
IntActiQ9P2R6, 30 interactors
MINTiQ9P2R6
STRINGi9606.ENSP00000338629

PTM databases

CarbonylDBiQ9P2R6
iPTMnetiQ9P2R6
PhosphoSitePlusiQ9P2R6

Polymorphism and mutation databases

BioMutaiRERE
DMDMi85540730

Proteomic databases

EPDiQ9P2R6
jPOSTiQ9P2R6
MaxQBiQ9P2R6
PaxDbiQ9P2R6
PeptideAtlasiQ9P2R6
PRIDEiQ9P2R6
ProteomicsDBi83883
83884 [Q9P2R6-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
473
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000337907; ENSP00000338629; ENSG00000142599 [Q9P2R6-1]
ENST00000400908; ENSP00000383700; ENSG00000142599 [Q9P2R6-1]
ENST00000476556; ENSP00000422246; ENSG00000142599 [Q9P2R6-2]
GeneIDi473
KEGGihsa:473
UCSCiuc001apd.4 human [Q9P2R6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
473
DisGeNETi473
EuPathDBiHostDB:ENSG00000142599.17

GeneCards: human genes, protein and diseases

More...
GeneCardsi
RERE
HGNCiHGNC:9965 RERE
HPAiHPA024093
MalaCardsiRERE
MIMi605226 gene
616975 phenotype
neXtProtiNX_Q9P2R6
OpenTargetsiENSG00000142599
Orphaneti1606 1p36 deletion syndrome
494344 RERE-related neurodevelopmental syndrome
PharmGKBiPA34332

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2133 Eukaryota
ENOG410ZIND LUCA
GeneTreeiENSGT00940000153615
HOGENOMiHOG000231091
HOVERGENiHBG079774
InParanoidiQ9P2R6
KOiK05628
OMAiQSHKHPP
OrthoDBi136778at2759
PhylomeDBiQ9P2R6
TreeFamiTF328554

Miscellaneous databases

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

More...
ChiTaRSi
RERE human
EvolutionaryTraceiQ9P2R6

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
RERE

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

More...
GenomeRNAii
473

Protein Ontology

More...
PROi
PR:Q9P2R6

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000142599 Expressed in 239 organ(s), highest expression level in corpus callosum
ExpressionAtlasiQ9P2R6 baseline and differential
GenevisibleiQ9P2R6 HS

Family and domain databases

CDDicd00202 ZnF_GATA, 1 hit
InterProiView protein in InterPro
IPR002951 Atrophin-like
IPR001025 BAH_dom
IPR000949 ELM2_dom
IPR009057 Homeobox-like_sf
IPR001005 SANT/Myb
IPR017884 SANT_dom
IPR000679 Znf_GATA
PfamiView protein in Pfam
PF03154 Atrophin-1, 1 hit
PF01426 BAH, 1 hit
PF01448 ELM2, 1 hit
PF00320 GATA, 1 hit
SMARTiView protein in SMART
SM00439 BAH, 1 hit
SM01189 ELM2, 1 hit
SM00717 SANT, 1 hit
SM00401 ZnF_GATA, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS51038 BAH, 1 hit
PS51156 ELM2, 1 hit
PS51293 SANT, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRERE_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: Q9P2R6
Secondary accession number(s): O43393
, O75046, O75359, Q5VXL9, Q6P6B9, Q9Y2W4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 10, 2006
Last sequence update: January 10, 2006
Last modified: February 13, 2019
This is version 172 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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