Seroatlas · Human Serome Atlas

RERE

Arginine-glutamic acid dipeptide repeats protein

Also known as: ARG, ARP, ATN1L, ATN2, DNB1, KIAA0458, RERE_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9P2R6
Gene: RERE
Ensembl: ENSG00000142599
Chromosome: 1
Canonical length: 1566 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm,Nuclear bodies

OverviewNCBI Gene

This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1566 residues, UniProt reviewed canonical sequence.

>Q9P2R6|RERE
     1  MTADKDKDKD KEKDRDRDRD REREKRDKAR ESENSRPRRS CTLEGGAKNY AESDHSEDED
    61  NDNNSATAEE STKKNKKKPP KKKSRYERTD TGEITSYITE DDVVYRPGDC VYIESRRPNT
   121  PYFICSIQDF KLVHNSQACC RSPTPALCDP PACSLPVASQ PPQHLSEAGR GPVGSKRDHL
   181  LMNVKWYYRQ SEVPDSVYQH LVQDRHNEND SGRELVITDP VIKNRELFIS DYVDTYHAAA
   241  LRGKCNISHF SDIFAAREFK ARVDSFFYIL GYNPETRRLN STQGEIRVGP SHQAKLPDLQ
   301  PFPSPDGDTV TQHEELVWMP GVNDCDLLMY LRAARSMAAF AGMCDGGSTE DGCVAASRDD
   361  TTLNALNTLH ESGYDAGKAL QRLVKKPVPK LIEKCWTEDE VKRFVKGLRQ YGKNFFRIRK
   421  ELLPNKETGE LITFYYYWKK TPEAASSRAH RRHRRQAVFR RIKTRTASTP VNTPSRPPSS
   481  EFLDLSSASE DDFDSEDSEQ ELKGYACRHC FTTTSKDWHH GGRENILLCT DCRIHFKKYG
   541  ELPPIEKPVD PPPFMFKPVK EEDDGLSGKH SMRTRRSRGS MSTLRSGRKK QPASPDGRTS
   601  PINEDIRSSG RNSPSAASTS SNDSKAETVK KSAKKVKEEA SSPLKSNKRQ REKVASDTEE
   661  ADRTSSKKTK TQEISRPNSP SEGEGESSDS RSVNDEGSSD PKDIDQDNRS TSPSIPSPQD
   721  NESDSDSSAQ QQMLQAQPPA LQAPTGVTPA PSSAPPGTPQ LPTPGPTPSA TAVPPQGSPT
   781  ASQAPNQPQA PTAPVPHTHI QQAPALHPQR PPSPHPPPHP SPHPPLQPLT GSAGQPSAPS
   841  HAQPPLHGQG PPGPHSLQAG PLLQHPGPPQ PFGLPPQASQ GQAPLGTSPA AAYPHTSLQL
   901  PASQSALQSQ QPPREQPLPP APLAMPHIKP PPTTPIPQLP APQAHKHPPH LSGPSPFSMN
   961  ANLPPPPALK PLSSLSTHHP PSAHPPPLQL MPQSQPLPSS PAQPPGLTQS QNLPPPPASH
  1021  PPTGLHQVAP QPPFAQHPFV PGGPPPITPP TCPSTSTPPA GPGTSAQPPC SGAAASGGSI
  1081  AGGSSCPLPT VQIKEEALDD AEEPESPPPP PRSPSPEPTV VDTPSHASQS ARFYKHLDRG
  1141  YNSCARTDLY FMPLAGSKLA KKREEAIEKA KREAEQKARE EREREKEKEK ERERERERER
  1201  EAERAAKASS SAHEGRLSDP QLSGPGHMRP SFEPPPTTIA AVPPYIGPDT PALRTLSEYA
  1261  RPHVMSPTNR NHPFYMPLNP TDPLLAYHMP GLYNVDPTIR ERELREREIR EREIRERELR
  1321  ERMKPGFEVK PPELDPLHPA ANPMEHFARH SALTIPPTAG PHPFASFHPG LNPLERERLA
  1381  LAGPQLRPEM SYPDRLAAER IHAERMASLT SDPLARLQMF NVTPHHHQHS HIHSHLHLHQ
  1441  QDPLHQGSAG PVHPLVDPLT AGPHLARFPY PPGTLPNPLL GQPPHEHEML RHPVFGTPYP
  1501  RDLPGAIPPP MSAAHQLQAM HAQSAELQRL AMEQQWLHGH PHMHGGHLPS QEDYYSRLKK
  1561  EGDKQL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RERE can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.59
Highest tissue expression: 146 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 146 nTPM
endometrium: 86 nTPM
blood vessel: 66 nTPM
cervix: 62 nTPM
colon: 61 nTPM
heart muscle: 60 nTPM

Single-cell type

cone photoreceptor cells: 1,677 nCPM
podocytes: 1,277 nCPM
renal collecting duct intercalated cells: 1,134 nCPM
distal convoluted tubule cells: 1,131 nCPM
prostatic glandular cells: 1,118 nCPM
myonuclei: 990 nCPM

Immune cell

non-classical monocyte: 23 nTPM
T-reg: 14 nTPM
naive B-cell: 10 nTPM
plasmacytoid DC: 7.7 nTPM
neutrophil: 7.5 nTPM
intermediate monocyte: 6.5 nTPM

Brain region

cerebral cortex: 189 nTPM
cerebellum: 165 nTPM
hypothalamus: 160 nTPM
amygdala: 151 nTPM
white matter: 149 nTPM
basal ganglia: 142 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RERE.

Disease | AllUniProt

Conditions RERE is implicated in, by any mechanism.

Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH) MIM:616975

Disease | GeneticClinVar

69 pathogenic / likely-pathogenic of 1,114 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
Inborn genetic diseases
RERE-related disorder
Cerebral visual impairment and intellectual disability
CHARGE syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.12
gnomAD pLI: 1
gnomAD missense Z: 2.03
DepMap mean gene effect: -0.08
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RERE in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RERE as an antibody target. Whether an autoantibody or antibody against RERE could matter depends on whether native RERE is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RERE is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label RERE as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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