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UniProtKB - Q9P2R6 (RERE_HUMAN)

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Protein

Arginine-glutamic acid dipeptide repeats protein

Gene

RERE

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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
Zinc fingeri507 – 532GATA-typeAdd BLAST26

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

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

Names & Taxonomyi

Protein namesi
Recommended name:
Arginine-glutamic acid dipeptide repeats protein
Alternative name(s):
Atrophin-1-like protein
Atrophin-1-related protein
Gene namesi
Name:RERE
Synonyms:ARG, ARP, ATN1L, KIAA0458
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000142599.17
HGNCiHGNC:9965 RERE
MIMi605226 gene
neXtProtiNX_Q9P2R6

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

Pathology & Biotechi

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
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

DisGeNETi473
MalaCardsiRERE
MIMi616975 phenotype
OpenTargetsiENSG00000142599
PharmGKBiPA34332

Polymorphism and mutation databases

BioMutaiRERE
DMDMi85540730

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000835041 – 1566Arginine-glutamic acid dipeptide repeats proteinAdd BLAST1566

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei53PhosphoserineCombined sources1
Modified residuei56PhosphoserineCombined sources1
Modified residuei120PhosphothreonineCombined sources1
Modified residuei142PhosphoserineBy similarity1
Modified residuei304PhosphoserineCombined sources1
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

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

PTM databases

CarbonylDBiQ9P2R6
iPTMnetiQ9P2R6
PhosphoSitePlusiQ9P2R6

Expressioni

Tissue specificityi

Widely expressed. Expressed in tumor cell lines.3 Publications

Gene expression databases

BgeeiENSG00000142599
CleanExiHS_RERE
ExpressionAtlasiQ9P2R6 baseline and differential
GenevisibleiQ9P2R6 HS

Organism-specific databases

HPAiHPA024093

Interactioni

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

Binary interactionsi

Show more details

GO - Molecular functioni

  • poly-glutamine tract binding Source: ProtInc
View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi106963, 32 interactors
DIPiDIP-47606N
IntActiQ9P2R6, 30 interactors
MINTiQ9P2R6
STRINGi9606.ENSP00000338629

Structurei

Secondary structure

11566
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi398 – 410Combined sources13
Helixi415 – 421Combined sources7
Helixi428 – 439Combined sources12

3D structure databases

ProteinModelPortaliQ9P2R6
SMRiQ9P2R6
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9P2R6

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini103 – 283BAHPROSITE-ProRule annotationAdd BLAST181
Domaini284 – 387ELM2PROSITE-ProRule annotationAdd BLAST104
Domaini391 – 443SANTPROSITE-ProRule annotationAdd BLAST53

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili1156 – 1211Sequence analysisAdd BLAST56

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

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

eggNOGiKOG2133 Eukaryota
ENOG410ZIND LUCA
GeneTreeiENSGT00580000081398
HOGENOMiHOG000231091
HOVERGENiHBG079774
InParanoidiQ9P2R6
KOiK05628
OMAiFMPLAGS
OrthoDBiEOG091G0O1H
PhylomeDBiQ9P2R6
TreeFamiTF328554

Family and domain databases

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

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.
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
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

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
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
Alternative sequenceiVSP_0168781 – 554Missing in isoform 2. 1 PublicationAdd BLAST554

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

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]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiRERE_HUMAN
AccessioniPrimary (citable) accession number: Q9P2R6
Secondary accession number(s): O43393
, O75046, O75359, Q5VXL9, Q6P6B9, Q9Y2W4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 10, 2006
Last sequence update: January 10, 2006
Last modified: July 18, 2018
This is version 167 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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

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