UniProtKB - Q9P2R6 (RERE_HUMAN)

BLAST

>sp|Q9P2R6|RERE_HUMAN Arginine-glutamic acid dipeptide repeats protein OS=Homo sapiens OX=9606 GN=RERE PE=1 SV=2
MTADKDKDKDKEKDRDRDRDREREKRDKARESENSRPRRSCTLEGGAKNYAESDHSEDED
NDNNSATAEESTKKNKKKPPKKKSRYERTDTGEITSYITEDDVVYRPGDCVYIESRRPNT
PYFICSIQDFKLVHNSQACCRSPTPALCDPPACSLPVASQPPQHLSEAGRGPVGSKRDHL
LMNVKWYYRQSEVPDSVYQHLVQDRHNENDSGRELVITDPVIKNRELFISDYVDTYHAAA
LRGKCNISHFSDIFAAREFKARVDSFFYILGYNPETRRLNSTQGEIRVGPSHQAKLPDLQ
PFPSPDGDTVTQHEELVWMPGVNDCDLLMYLRAARSMAAFAGMCDGGSTEDGCVAASRDD
TTLNALNTLHESGYDAGKALQRLVKKPVPKLIEKCWTEDEVKRFVKGLRQYGKNFFRIRK
ELLPNKETGELITFYYYWKKTPEAASSRAHRRHRRQAVFRRIKTRTASTPVNTPSRPPSS
EFLDLSSASEDDFDSEDSEQELKGYACRHCFTTTSKDWHHGGRENILLCTDCRIHFKKYG
ELPPIEKPVDPPPFMFKPVKEEDDGLSGKHSMRTRRSRGSMSTLRSGRKKQPASPDGRTS
PINEDIRSSGRNSPSAASTSSNDSKAETVKKSAKKVKEEASSPLKSNKRQREKVASDTEE
ADRTSSKKTKTQEISRPNSPSEGEGESSDSRSVNDEGSSDPKDIDQDNRSTSPSIPSPQD
NESDSDSSAQQQMLQAQPPALQAPTGVTPAPSSAPPGTPQLPTPGPTPSATAVPPQGSPT
ASQAPNQPQAPTAPVPHTHIQQAPALHPQRPPSPHPPPHPSPHPPLQPLTGSAGQPSAPS
HAQPPLHGQGPPGPHSLQAGPLLQHPGPPQPFGLPPQASQGQAPLGTSPAAAYPHTSLQL
PASQSALQSQQPPREQPLPPAPLAMPHIKPPPTTPIPQLPAPQAHKHPPHLSGPSPFSMN
ANLPPPPALKPLSSLSTHHPPSAHPPPLQLMPQSQPLPSSPAQPPGLTQSQNLPPPPASH
PPTGLHQVAPQPPFAQHPFVPGGPPPITPPTCPSTSTPPAGPGTSAQPPCSGAAASGGSI
AGGSSCPLPTVQIKEEALDDAEEPESPPPPPRSPSPEPTVVDTPSHASQSARFYKHLDRG
YNSCARTDLYFMPLAGSKLAKKREEAIEKAKREAEQKAREEREREKEKEKERERERERER
EAERAAKASSSAHEGRLSDPQLSGPGHMRPSFEPPPTTIAAVPPYIGPDTPALRTLSEYA
RPHVMSPTNRNHPFYMPLNPTDPLLAYHMPGLYNVDPTIRERELREREIREREIRERELR
ERMKPGFEVKPPELDPLHPAANPMEHFARHSALTIPPTAGPHPFASFHPGLNPLERERLA
LAGPQLRPEMSYPDRLAAERIHAERMASLTSDPLARLQMFNVTPHHHQHSHIHSHLHLHQ
QDPLHQGSAGPVHPLVDPLTAGPHLARFPYPPGTLPNPLLGQPPHEHEMLRHPVFGTPYP
RDLPGAIPPPMSAAHQLQAMHAQSAELQRLAMEQQWLHGHPHMHGGHLPSQEDYYSRLKK
EGDKQL

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History
Entry version 169 (07 Nov 2018)
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: -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 key	Position(s)	DescriptionActions	Graphical view	Length
Zinc fingerⁱ	507 – 532	GATA-typeAdd BLAST		26

GO - Molecular functionⁱ

chromatin binding Source: InterPro
DNA binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
poly-glutamine tract binding
Source: ProtInc
Traceable author statementⁱ
- 10814707
RNA polymerase II transcription factor binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
sequence-specific DNA binding Source: InterPro
transcription coactivator activity Source: Ensembl
transcription corepressor activity
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
zinc ion binding Source: InterPro

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

branching morphogenesis of a nerve Source: Ensembl
cerebellar granule cell precursor proliferation Source: Ensembl
cerebellar Purkinje cell layer maturation Source: Ensembl
chromatin remodeling Source: Ensembl
dendrite morphogenesis Source: Ensembl
NLS-bearing protein import into nucleus
Source: ProtInc
Traceable author statementⁱ
- 10814707
radial glia guided migration of Purkinje cell Source: Ensembl

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Developmental protein, Repressor
Biological process	Transcription, Transcription regulation
Ligand	Metal-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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 1

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000142599.17
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:9965 RERE
MIMⁱ	605226 gene
neXtProtⁱ	NX_Q9P2R6

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.

Keywords - Diseaseⁱ

Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	473
MalaCards human disease database More...MalaCardsⁱ	RERE
MIMⁱ	616975 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000142599
Orphanetⁱ	1606 1p36 deletion syndrome 494344 RERE-related neurodevelopmental syndrome
PharmGKBⁱ	PA34332

Polymorphism and mutation databases

BioMutaⁱ	RERE
DMDMⁱ	85540730

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000083504	1 – 1566	Arginine-glutamic acid dipeptide repeats proteinAdd BLAST		1566

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	53	PhosphoserineCombined sources	1
Modified residueⁱ	56	PhosphoserineCombined sources	1
Modified residueⁱ	120	PhosphothreonineCombined sources	1
Modified residueⁱ	142	PhosphoserineBy similarity	1
Modified residueⁱ	304	PhosphoserineCombined sources	1
Cross-linkⁱ	560	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residueⁱ	594	PhosphoserineCombined sources	1
Modified residueⁱ	600	PhosphoserineCombined sources	1
Modified residueⁱ	613	PhosphoserineCombined sources	1
Cross-linkⁱ	637	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residueⁱ	642	PhosphoserineCombined sources	1
Modified residueⁱ	656	PhosphoserineCombined sources	1
Modified residueⁱ	675	PhosphoserineCombined sources	1
Modified residueⁱ	679	PhosphoserineCombined sources	1
Modified residueⁱ	1106	PhosphoserineCombined sources	1
Modified residueⁱ	1113	PhosphoserineCombined sources	1
Modified residueⁱ	1115	PhosphoserineBy similarity	1
Modified residueⁱ	1119	PhosphothreonineCombined sources	1
Modified residueⁱ	1158	N6-acetyllysineBy similarity	1
Modified residueⁱ	1259	PhosphotyrosineCombined sources	1
Modified residueⁱ	1266	PhosphoserineCombined sources	1

Keywords - PTMⁱ

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDⁱ	Q9P2R6
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q9P2R6
PaxDbⁱ	Q9P2R6
PeptideAtlas More...PeptideAtlasⁱ	Q9P2R6
PRIDEⁱ	Q9P2R6
ProteomicsDBⁱ	83883 83884 [Q9P2R6-2]

PTM databases

CarbonylDBⁱ	Q9P2R6
iPTMnetⁱ	Q9P2R6
PhosphoSitePlusⁱ	Q9P2R6

Expressionⁱ

Tissue specificityⁱ

Widely expressed. Expressed in tumor cell lines.3 Publications

Gene expression databases

Bgeeⁱ	ENSG00000142599 Expressed in 239 organ(s), highest expression level in corpus callosum
CleanExⁱ	HS_RERE
ExpressionAtlasⁱ	Q9P2R6 baseline and differential
Genevisibleⁱ	Q9P2R6 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA024093

HPAⁱ

HPA024093

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

With	Entry	#Exp.	IntAct	Notes
ATN1	P54259	3	EBI-948076,EBI-945980
EHMT2	Q96KQ7	3	EBI-948076,EBI-744366

GO - Molecular functionⁱ

poly-glutamine tract binding
Source: ProtInc
Traceable author statementⁱ
- 10814707
RNA polymerase II transcription factor binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	106963, 32 interactors
Database of interacting proteins More...DIPⁱ	DIP-47606N
IntActⁱ	Q9P2R6, 30 interactors
Molecular INTeraction database More...MINTⁱ	Q9P2R6
STRINGⁱ	9606.ENSP00000338629

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	398 – 410	Combined sources	13
Helixⁱ	415 – 421	Combined sources	7
Helixⁱ	428 – 439	Combined sources	12

Show more details

3D structure databases

ProteinModelPortalⁱ	Q9P2R6
SMRⁱ	Q9P2R6
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	Q9P2R6

EvolutionaryTraceⁱ

Q9P2R6

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Length
Domainⁱ	103 – 283	BAHPROSITE-ProRule annotationAdd BLAST	181
Domainⁱ	284 – 387	ELM2PROSITE-ProRule annotationAdd BLAST	104
Domainⁱ	391 – 443	SANTPROSITE-ProRule annotationAdd BLAST	53

Coiled coil

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Coiled coilⁱ	1156 – 1211	Sequence analysisAdd BLAST		56

Compositional bias

Feature key	Position(s)	DescriptionActions	Length
Compositional biasⁱ	738 – 1118	Pro-richAdd BLAST	381
Compositional biasⁱ	1179 – 1204	Arg/Glu-rich (mixed charge)Add BLAST	26
Compositional biasⁱ	1300 – 1322	Arg/Glu-rich (mixed charge)Add BLAST	23
Compositional biasⁱ	1425 – 1445	His-richAdd BLAST	21
Compositional biasⁱ	1451 – 1510	Pro-richAdd BLAST	60

Domainⁱ

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

Zinc finger

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Zinc fingerⁱ	507 – 532	GATA-typeAdd BLAST		26

Keywords - Domainⁱ

Coiled coil, Zinc-finger

Phylogenomic databases

eggNOGⁱ	KOG2133 Eukaryota ENOG410ZIND LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00580000081398
HOGENOMⁱ	HOG000231091
HOVERGENⁱ	HBG079774
InParanoidⁱ	Q9P2R6
KEGG Orthology (KO) More...KOⁱ	K05628
OMAⁱ	QSHKHPP
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0O1H
PhylomeDBⁱ	Q9P2R6
TreeFamⁱ	TF328554

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00202 ZnF_GATA, 1 hit
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
SMARTⁱ	View protein in SMART SM00439 BAH, 1 hit SM01189 ELM2, 1 hit SM00717 SANT, 1 hit SM00401 ZnF_GATA, 1 hit
SUPFAMⁱ	SSF46689 SSF46689, 1 hit
PROSITEⁱ	View 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. Align Add to basket

Note: Additional isoforms seem to exist.

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

Isoform 1 (identifier: Q9P2R6-1) [UniParc]FASTA Add 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.

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        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

Isoform 2 (identifier: Q9P2R6-2) [UniParc]FASTA Add to basket

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

« Hide

        10         20         30         40         50
MFKPVKEEDD GLSGKHSMRT RRSRGSMSTL RSGRKKQPAS PDGRTSPINE 
        60         70         80         90        100
DIRSSGRNSP SAASTSSNDS KAETVKKSAK KVKEEASSPL KSNKRQREKV 
       110        120        130        140        150
ASDTEEADRT SSKKTKTQEI SRPNSPSEGE GESSDSRSVN DEGSSDPKDI 
       160        170        180        190        200
DQDNRSTSPS IPSPQDNESD SDSSAQQQML QAQPPALQAP TGVTPAPSSA 
       210        220        230        240        250
PPGTPQLPTP GPTPSATAVP PQGSPTASQA PNQPQAPTAP VPHTHIQQAP 
       260        270        280        290        300
ALHPQRPPSP HPPPHPSPHP PLQPLTGSAG QPSAPSHAQP PLHGQGPPGP 
       310        320        330        340        350
HSLQAGPLLQ HPGPPQPFGL PPQASQGQAP LGTSPAAAYP HTSLQLPASQ 
       360        370        380        390        400
SALQSQQPPR EQPLPPAPLA MPHIKPPPTT PIPQLPAPQA HKHPPHLSGP 
       410        420        430        440        450
SPFSMNANLP PPPALKPLSS LSTHHPPSAH PPPLQLMPQS QPLPSSPAQP 
       460        470        480        490        500
PGLTQSQNLP PPPASHPPTG LHQVAPQPPF AQHPFVPGGP PPITPPTCPS 
       510        520        530        540        550
TSTPPAGPGT SAQPPCSGAA ASGGSIAGGS SCPLPTVQIK EEALDDAEEP 
       560        570        580        590        600
ESPPPPPRSP SPEPTVVDTP SHASQSARFY KHLDRGYNSC ARTDLYFMPL 
       610        620        630        640        650
AGSKLAKKRE EAIEKAKREA EQKAREERER EKEKEKERER EREREREAER 
       660        670        680        690        700
AAKASSSAHE GRLSDPQLSG PGHMRPSFEP PPTTIAAVPP YIGPDTPALR 
       710        720        730        740        750
TLSEYARPHV MSPTNRNHPF YMPLNPTDPL LAYHMPGLYN VDPTIREREL 
       760        770        780        790        800
REREIREREI RERELRERMK PGFEVKPPEL DPLHPAANPM EHFARHSALT 
       810        820        830        840        850
IPPTAGPHPF ASFHPGLNPL ERERLALAGP QLRPEMSYPD RLAAERIHAE 
       860        870        880        890        900
RMASLTSDPL ARLQMFNVTP HHHQHSHIHS HLHLHQQDPL HQGSAGPVHP 
       910        920        930        940        950
LVDPLTAGPH LARFPYPPGT LPNPLLGQPP HEHEMLRHPV FGTPYPRDLP 
       960        970        980        990       1000
GAIPPPMSAA HQLQAMHAQS AELQRLAMEQ QWLHGHPHMH GGHLPSQEDY 
      1010 
YSRLKKEGDK QL

Show »

Length:1,012

Mass (Da):109,048

Checksum:ⁱ54B60DCBF0FB85FE

Computationally mapped potential isoform sequencesⁱ

There are 8 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

B1AKN3	B1AKN3_HUMAN	Arginine-glutamic acid dipeptide (R... Arginine-glutamic acid dipeptide (RE) repeats, isoform CRA_b (Arginine-glutamic acid dipeptide repeats protein)	RERE hCG_2008872	1,298	Annotation score:
H7BYW9	H7BYW9_HUMAN	Arginine-glutamic acid dipeptide re... Arginine-glutamic acid dipeptide repeats protein	RERE	584	Annotation score:
A0A075B770	A0A075B770_HUMAN	Arginine-glutamic acid dipeptide re... Arginine-glutamic acid dipeptide repeats protein	RERE	213	Annotation score:
H0Y975	H0Y975_HUMAN	Arginine-glutamic acid dipeptide re... Arginine-glutamic acid dipeptide repeats protein	RERE	91	Annotation score:
D6RA28	D6RA28_HUMAN	Arginine-glutamic acid dipeptide re... Arginine-glutamic acid dipeptide repeats protein	RERE	177	Annotation score:
K7EIE3	K7EIE3_HUMAN	Arginine-glutamic acid dipeptide re... Arginine-glutamic acid dipeptide repeats protein	RERE	89	Annotation score:
K7EIQ4	K7EIQ4_HUMAN	Arginine-glutamic acid dipeptide re... Arginine-glutamic acid dipeptide repeats protein	RERE	26	Annotation score:
K7EJQ1	K7EJQ1_HUMAN	Arginine-glutamic acid dipeptide re... Arginine-glutamic acid dipeptide repeats protein	RERE	35	Annotation score:

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 key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	65	S → G in BAA95898 (PubMed:10814707).Curated	1
Sequence conflictⁱ	68	A → T in BAA95898 (PubMed:10814707).Curated	1
Sequence conflictⁱ	114 – 115	ES → VC in BAA95898 (PubMed:10814707).Curated	2
Sequence conflictⁱ	643	P → L in AAC31120 (Ref. 3) Curated	1
Sequence conflictⁱ	921	A → G in BAA95898 (PubMed:10814707).Curated	1
Sequence conflictⁱ	940	P → A in BAA95898 (PubMed:10814707).Curated	1
Sequence conflictⁱ	957	F → L in AAD27584 (PubMed:10729226).Curated	1
Sequence conflictⁱ	977	T → K no nucleotide entry (PubMed:11331249).Curated	1
Sequence conflictⁱ	984	H → N no nucleotide entry (PubMed:11331249).Curated	1
Sequence conflictⁱ	1009 – 1011	QSQ → RTR in AAD27584 (PubMed:10729226).Curated	3
Sequence conflictⁱ	1117	E → D in AAD27584 (PubMed:10729226).Curated	1
Sequence conflictⁱ	1272	H → Q in AAD27584 (PubMed:10729226).Curated	1
Sequence conflictⁱ	1489 – 1490	ML → IV in BAA95898 (PubMed:10814707).Curated	2
Sequence conflictⁱ	1529	R → K in AAD27584 (PubMed:10729226).Curated	1
Sequence conflictⁱ	1536	W → C in AAD27584 (PubMed:10729226).Curated	1
Sequence conflictⁱ	1543	M → R in AAD27584 (PubMed:10729226).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_077007	471	V → I in NEDBEH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs765016528Ensembl.	1
Natural variantⁱVAR_077008	1156	G → R in NEDBEH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs766951273EnsemblClinVar.	1
Natural variantⁱVAR_077009	1262	P → R in NEDBEH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs878853270EnsemblClinVar.	1
Natural variantⁱVAR_077010	1431	H → Q in NEDBEH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs869312871EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_016878	1 – 554	Missing in isoform 2. 1 PublicationAdd BLAST		554

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AB036737 mRNA Translation: BAA95898.1 AF016005 mRNA Translation: AAC31120.1 Frameshift. AF041104 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]
UniGeneⁱ	Hs.463041

Genome annotation databases

Ensemblⁱ	ENST00000337907; ENSP00000338629; ENSG00000142599 [Q9P2R6-1] ENST00000400908; ENSP00000383700; ENSG00000142599 [Q9P2R6-1] ENST00000476556; ENSP00000422246; ENSG00000142599 [Q9P2R6-2]
GeneIDⁱ	473
KEGGⁱ	hsa:473
UCSC genome browser More...UCSCⁱ	uc001apd.4 human [Q9P2R6-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Chromosomal rearrangement, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9P2R6	Arginine-glutamic acid dipeptide (RE) repeats, isoform CRA_a		HUMAN		1566	UniRef100_Q9P2R6
Isoform 2 of Arginine-glutamic acid dipeptide repeats protein		HUMAN		1012

Protein	Similar proteins		Species	Score	Length	Source
Q9P2R6	Arginine-glutamic acid dipeptide (RE) repeats, isoform CRA_a		HUMAN		1566	UniRef90_Q9P2R6
Arginine-glutamic acid dipeptide (RE) repeats		PANTR		1566
Arginine-glutamic acid dipeptide repeats protein isoform a		MACMU		1566
Uncharacterized protein		MACFA		1566
Uncharacterized protein		PONAB		1566
+125

Protein	Similar proteins		Species	Score	Length	Source
Q9P2R6	Arginine-glutamic acid dipeptide repeats protein		RAT		1559	UniRef50_Q9P2R6
Arginine-glutamic acid dipeptide repeats protein		MOUSE		1558
Arginine-glutamic acid dipeptide (RE) repeats, isoform CRA_a		HUMAN		1566
Arginine-glutamic acid dipeptide (RE) repeats		PANTR		1566
Arginine-glutamic acid dipeptide repeats protein isoform a		MACMU		1566
+606

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 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.
CCDSⁱ	CCDS41243.1 [Q9P2R6-2] CCDS95.1 [Q9P2R6-1]
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]
UniGeneⁱ	Hs.463041

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	2YQK	NMR	-	A	392-441	[»]
ProteinModelPortalⁱ	Q9P2R6
SMRⁱ	Q9P2R6
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	106963, 32 interactors
DIPⁱ	DIP-47606N
IntActⁱ	Q9P2R6, 30 interactors
MINTⁱ	Q9P2R6
STRINGⁱ	9606.ENSP00000338629

PTM databases

CarbonylDBⁱ	Q9P2R6
iPTMnetⁱ	Q9P2R6
PhosphoSitePlusⁱ	Q9P2R6

Polymorphism and mutation databases

BioMutaⁱ	RERE
DMDMⁱ	85540730

Proteomic databases

EPDⁱ	Q9P2R6
MaxQBⁱ	Q9P2R6
PaxDbⁱ	Q9P2R6
PeptideAtlasⁱ	Q9P2R6
PRIDEⁱ	Q9P2R6
ProteomicsDBⁱ	83883 83884 [Q9P2R6-2]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	473
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000337907; ENSP00000338629; ENSG00000142599 [Q9P2R6-1] ENST00000400908; ENSP00000383700; ENSG00000142599 [Q9P2R6-1] ENST00000476556; ENSP00000422246; ENSG00000142599 [Q9P2R6-2]
GeneIDⁱ	473
KEGGⁱ	hsa:473
UCSCⁱ	uc001apd.4 human [Q9P2R6-1]

Organism-specific databases

CTDⁱ	473
DisGeNETⁱ	473
EuPathDBⁱ	HostDB:ENSG00000142599.17
GeneCardsⁱ	RERE
HGNCⁱ	HGNC:9965 RERE
HPAⁱ	HPA024093
MalaCardsⁱ	RERE
MIMⁱ	605226 gene 616975 phenotype
neXtProtⁱ	NX_Q9P2R6
OpenTargetsⁱ	ENSG00000142599
Orphanetⁱ	1606 1p36 deletion syndrome 494344 RERE-related neurodevelopmental syndrome
PharmGKBⁱ	PA34332
HUGEⁱ	Search...
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG2133 Eukaryota ENOG410ZIND LUCA
GeneTreeⁱ	ENSGT00580000081398
HOGENOMⁱ	HOG000231091
HOVERGENⁱ	HBG079774
InParanoidⁱ	Q9P2R6
KOⁱ	K05628
OMAⁱ	QSHKHPP
OrthoDBⁱ	EOG091G0O1H
PhylomeDBⁱ	Q9P2R6
TreeFamⁱ	TF328554

Miscellaneous databases

ChiTaRSⁱ	RERE human
EvolutionaryTraceⁱ	Q9P2R6
GeneWikiⁱ	RERE
GenomeRNAiⁱ	473
Protein Ontology More...PROⁱ	PR:Q9P2R6
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000142599 Expressed in 239 organ(s), highest expression level in corpus callosum
CleanExⁱ	HS_RERE
ExpressionAtlasⁱ	Q9P2R6 baseline and differential
Genevisibleⁱ	Q9P2R6 HS

Family and domain databases

CDDⁱ	cd00202 ZnF_GATA, 1 hit
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
Pfamⁱ	View protein in Pfam PF03154 Atrophin-1, 1 hit PF01426 BAH, 1 hit PF01448 ELM2, 1 hit PF00320 GATA, 1 hit
SMARTⁱ	View protein in SMART SM00439 BAH, 1 hit SM01189 ELM2, 1 hit SM00717 SANT, 1 hit SM00401 ZnF_GATA, 1 hit
SUPFAMⁱ	SSF46689 SSF46689, 1 hit
PROSITEⁱ	View protein in PROSITE PS51038 BAH, 1 hit PS51156 ELM2, 1 hit PS51293 SANT, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	RERE_HUMAN
Accessionⁱ	Q9P2R6Primary (citable) accession number: Q9P2R6 Secondary accession number(s): O43393 , O75046, O75359, Q5VXL9, Q6P6B9, Q9Y2W4
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	January 10, 2006
	Last sequence update:	January 10, 2006
	Last modified:	November 7, 2018
	This is version 169 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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

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

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UniProtKB - Q9P2R6 (RERE_HUMAN)

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Arginine-glutamic acid dipeptide repeats protein

RERE

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<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

Regions

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GO - Biological processi

<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

Organism-specific databases

<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

Nucleus

Nucleus

Keywords - Cellular componenti

<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

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<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

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<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

Gene expression databases

Organism-specific databases

<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

GO - Molecular functioni

Protein-protein interaction databases

<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

3D structure databases

Miscellaneous databases

<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

Coiled coil

Compositional bias

Zinc finger

Keywords - Domaini

Phylogenomic databases

Family and domain databases

<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

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<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

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Keywords - Domainⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ