UniProtKB - Q9P2R6 (RERE_HUMAN)
Protein
Arginine-glutamic acid dipeptide repeats protein
Gene
RERE
Organism
Homo sapiens (Human)
Status
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
- RNA polymerase II transcription factor binding Source: GO_Central
- sequence-specific DNA binding Source: InterPro
- transcription coactivator activity Source: Ensembl
- transcription corepressor activity Source: GO_Central
- zinc ion binding Source: InterPro
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
- radial glia guided migration of Purkinje cell Source: Ensembl
- regulation of transcription, DNA-templated Source: InterPro
Keywordsi
Molecular function | Developmental protein, Repressor |
Biological process | Transcription, Transcription regulation |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q9P2R6 |
Names & Taxonomyi
Protein namesi | Recommended name: Arginine-glutamic acid dipeptide repeats proteinAlternative 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 | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000142599.17 |
HGNCi | HGNC:9965, RERE |
MIMi | 605226, gene |
neXtProti | NX_Q9P2R6 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation2 Publications
Note: Localized in nuclear bodies of variables size. Colocalized with PML and BAX in nuclear PODs.
Nucleus
- histone deacetylase complex Source: Ensembl
- nucleus Source: GO_Central
Keywords - Cellular componenti
NucleusPathology & 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | 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 |
Keywords - Diseasei
Disease mutation, Mental retardationOrganism-specific databases
DisGeNETi | 473 |
MalaCardsi | RERE |
MIMi | 616975, phenotype |
OpenTargetsi | ENSG00000142599 |
Orphaneti | 1606, 1p36 deletion syndrome 494344, RERE-related neurodevelopmental syndrome |
PharmGKBi | PA34332 |
Miscellaneous databases
Pharosi | Q9P2R6, Tbio |
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 | Graphical view | 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 conjugationProteomic databases
EPDi | Q9P2R6 |
jPOSTi | Q9P2R6 |
MassIVEi | Q9P2R6 |
MaxQBi | Q9P2R6 |
PaxDbi | Q9P2R6 |
PeptideAtlasi | Q9P2R6 |
PRIDEi | Q9P2R6 |
ProteomicsDBi | 83883 [Q9P2R6-1] 83884 [Q9P2R6-2] |
PTM databases
CarbonylDBi | Q9P2R6 |
GlyGeni | Q9P2R6, 2 sites, 1 O-linked glycan (2 sites) |
iPTMneti | Q9P2R6 |
PhosphoSitePlusi | Q9P2R6 |
Expressioni
Tissue specificityi
Widely expressed. Expressed in tumor cell lines.3 Publications
Gene expression databases
Bgeei | ENSG00000142599, Expressed in corpus callosum and 250 other tissues |
ExpressionAtlasi | Q9P2R6, baseline and differential |
Genevisiblei | Q9P2R6, HS |
Organism-specific databases
HPAi | ENSG00000142599, Low tissue specificity |
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 PublicationsBinary interactionsi
Hide detailsQ9P2R6
GO - Molecular functioni
- RNA polymerase II transcription factor binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 106963, 39 interactors |
DIPi | DIP-47606N |
IntActi | Q9P2R6, 31 interactors |
MINTi | Q9P2R6 |
STRINGi | 9606.ENSP00000338629 |
Miscellaneous databases
RNActi | Q9P2R6, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q9P2R6 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9P2R6 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | 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 | Graphical view | 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-fingerPhylogenomic databases
eggNOGi | KOG2133, Eukaryota |
GeneTreei | ENSGT00940000153615 |
HOGENOMi | CLU_005292_1_0_1 |
InParanoidi | Q9P2R6 |
OMAi | PCRRLNS |
PhylomeDBi | Q9P2R6 |
TreeFami | TF328554 |
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 |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketNote: Additional isoforms seem to exist.
This entry has 2 described isoforms and 10 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A590UJ84 | A0A590UJ84_HUMAN | Arginine-glutamic acid dipeptide re... | RERE | 783 | Annotation score: | ||
B1AKN3 | B1AKN3_HUMAN | Arginine-glutamic acid dipeptide (R... | RERE hCG_2008872 | 1,298 | Annotation score: | ||
H7BYW9 | H7BYW9_HUMAN | Arginine-glutamic acid dipeptide re... | RERE | 584 | Annotation score: | ||
A0A075B770 | A0A075B770_HUMAN | Arginine-glutamic acid dipeptide re... | RERE | 213 | Annotation score: | ||
A0A590UK57 | A0A590UK57_HUMAN | Arginine-glutamic acid dipeptide re... | RERE | 402 | Annotation score: | ||
D6RA28 | D6RA28_HUMAN | Arginine-glutamic acid dipeptide re... | RERE | 177 | Annotation score: | ||
K7EIQ4 | K7EIQ4_HUMAN | Arginine-glutamic acid dipeptide re... | RERE | 26 | Annotation score: | ||
H0Y975 | H0Y975_HUMAN | Arginine-glutamic acid dipeptide re... | RERE | 91 | Annotation score: | ||
K7EIE3 | K7EIE3_HUMAN | Arginine-glutamic acid dipeptide re... | RERE | 89 | Annotation score: | ||
K7EJQ1 | K7EJQ1_HUMAN | Arginine-glutamic acid dipeptide re... | RERE | 35 | Annotation score: |
Sequence cautioni
The sequence AAC31120 differs from that shown. Reason: Frameshift.Curated
The sequence AAD27584 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | 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 | Graphical view | 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 , 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. |
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 XP_016856847.1, XM_017001358.1 XP_016856848.1, XM_017001359.1 |
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] |
Keywords - Coding sequence diversityi
Alternative splicing, Chromosomal rearrangement, PolymorphismSimilar proteinsi
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. |
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 XP_016856847.1, XM_017001358.1 XP_016856848.1, XM_017001359.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2YQK | NMR | - | A | 392-441 | [»] | |
SMRi | Q9P2R6 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 106963, 39 interactors |
DIPi | DIP-47606N |
IntActi | Q9P2R6, 31 interactors |
MINTi | Q9P2R6 |
STRINGi | 9606.ENSP00000338629 |
PTM databases
CarbonylDBi | Q9P2R6 |
GlyGeni | Q9P2R6, 2 sites, 1 O-linked glycan (2 sites) |
iPTMneti | Q9P2R6 |
PhosphoSitePlusi | Q9P2R6 |
Polymorphism and mutation databases
BioMutai | RERE |
DMDMi | 85540730 |
Proteomic databases
EPDi | Q9P2R6 |
jPOSTi | Q9P2R6 |
MassIVEi | Q9P2R6 |
MaxQBi | Q9P2R6 |
PaxDbi | Q9P2R6 |
PeptideAtlasi | Q9P2R6 |
PRIDEi | Q9P2R6 |
ProteomicsDBi | 83883 [Q9P2R6-1] 83884 [Q9P2R6-2] |
Protocols and materials databases
Antibodypediai | 13215, 156 antibodies |
DNASUi | 473 |
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 | ENSG00000142599, Low tissue specificity |
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... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2133, Eukaryota |
GeneTreei | ENSGT00940000153615 |
HOGENOMi | CLU_005292_1_0_1 |
InParanoidi | Q9P2R6 |
OMAi | PCRRLNS |
PhylomeDBi | Q9P2R6 |
TreeFami | TF328554 |
Enzyme and pathway databases
PathwayCommonsi | Q9P2R6 |
Miscellaneous databases
BioGRID-ORCSi | 473, 13 hits in 869 CRISPR screens |
ChiTaRSi | RERE, human |
EvolutionaryTracei | Q9P2R6 |
GeneWikii | RERE |
GenomeRNAii | 473 |
Pharosi | Q9P2R6, Tbio |
PROi | PR:Q9P2R6 |
RNActi | Q9P2R6, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000142599, Expressed in corpus callosum and 250 other tissues |
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... |
MobiDBi | Search... |
Entry informationi
Entry namei | RERE_HUMAN | |
Accessioni | Q9P2R6Primary (citable) accession number: Q9P2R6 Secondary accession number(s): O43393 Q9Y2W4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 10, 2006 |
Last sequence update: | January 10, 2006 | |
Last modified: | December 2, 2020 | |
This is version 184 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, Reference proteomeDocuments
- 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 - 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