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Aliases for RER1 Gene

Aliases for RER1 Gene

  • Retention In Endoplasmic Reticulum Sorting Receptor 1 2 3 5
  • RER1 Retention In Endoplasmic Reticulum 1 Homolog (S. Cerevisiae) 2

External Ids for RER1 Gene

Previous GeneCards Identifiers for RER1 Gene

  • GC01P001878
  • GC01P002336
  • GC01P001983
  • GC01P002192
  • GC01P002355
  • GC01P002313
  • GC01P001601

Summaries for RER1 Gene

Entrez Gene Summary for RER1 Gene

  • The protein encoded by this gene is a multi-pass membrane protein that is localized to the golgi apparatus. It is involved in the retention of endoplasmic reticulum (ER) membrane proteins in the ER and retrieval of ER membrane proteins from the early Golgi compartment to facilitate gamma-secretase complex assembly. [provided by RefSeq, Oct 2009]

GeneCards Summary for RER1 Gene

RER1 (Retention In Endoplasmic Reticulum Sorting Receptor 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include acetylcholine receptor binding.

UniProtKB/Swiss-Prot for RER1 Gene

  • Involved in the retrieval of endoplasmic reticulum membrane proteins from the early Golgi compartment.

Additional gene information for RER1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RER1 Gene

Genomics for RER1 Gene

GeneHancer (GH) Regulatory Elements for RER1 Gene

Promoters and enhancers for RER1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I002389 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 564.7 +1.8 1811 6.5 PKNOX1 SMAD1 ARID4B SIN3A YY1 E2F8 ZNF207 ZNF143 FOS ZNF263 RER1 MORN1 CDK11A LOC100288379 ATAD3B CCNL2 SLC35E2 CDK11B TNFRSF14 LOC100129381
GH01I001745 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 22.6 -645.2 -645213 2.2 PKNOX1 CLOCK ARNT ARID4B SIN3A DMAP1 ZNF766 E2F8 ZNF207 ZNF143 SLC35E2 LOC100288379 CCNL2 ENSG00000230092 RER1 SDF4 CDK11A INTS11 LOC100129381 MXRA8
GH01I001405 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 23.3 -984.3 -984264 3.6 HDGF PKNOX1 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 MRPL20 GC01P001407 RN7SL657P ATAD3B LOC100288379 INTS11 CCNL2 ENSG00000230092 CDK11A ANKRD65
GH01I001691 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 14.3 -698.5 -698513 2.4 CLOCK ARID4B SIN3A ZNF2 POLR2B ZNF213 ZNF207 ZNF143 KLF13 SP3 SLC35E2B INTS11 CCNL2 ENSG00000240731 ENSG00000230092 CDK11A LOC100288379 SLC35E2 UBE2J2 RER1
GH01I001510 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 14 -879.4 -879408 2.6 HDGF CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ATAD3A ATAD3B ENSG00000230092 INTS11 CCNL2 CDK11A NOC2L LOC100288379 ENSG00000237094 RER1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RER1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RER1 gene promoter:

Genomic Locations for RER1 Gene

Genomic Locations for RER1 Gene
chr1:2,391,314-2,405,444
(GRCh38/hg38)
Size:
14,131 bases
Orientation:
Plus strand
chr1:2,323,214-2,336,883
(GRCh37/hg19)

Genomic View for RER1 Gene

Genes around RER1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RER1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RER1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RER1 Gene

Proteins for RER1 Gene

  • Protein details for RER1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15258-RER1_HUMAN
    Recommended name:
    Protein RER1
    Protein Accession:
    O15258
    Secondary Accessions:
    • O95322

    Protein attributes for RER1 Gene

    Size:
    196 amino acids
    Molecular mass:
    22958 Da
    Quaternary structure:
    No Data Available

neXtProt entry for RER1 Gene

Post-translational modifications for RER1 Gene

No data available for DME Specific Peptides for RER1 Gene

Domains & Families for RER1 Gene

Gene Families for RER1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for RER1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O15258

UniProtKB/Swiss-Prot:

RER1_HUMAN :
  • Belongs to the RER1 family.
Family:
  • Belongs to the RER1 family.
genes like me logo Genes that share domains with RER1: view

Function for RER1 Gene

Molecular function for RER1 Gene

UniProtKB/Swiss-Prot Function:
Involved in the retrieval of endoplasmic reticulum membrane proteins from the early Golgi compartment.

Phenotypes From GWAS Catalog for RER1 Gene

Gene Ontology (GO) - Molecular Function for RER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0033130 acetylcholine receptor binding IEA --
genes like me logo Genes that share ontologies with RER1: view
genes like me logo Genes that share phenotypes with RER1: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RER1 Gene

Localization for RER1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RER1 Gene

Golgi apparatus membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RER1 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 4
endoplasmic reticulum 2
peroxisome 1
lysosome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IEA --
GO:0005794 Golgi apparatus IEA,IDA --
GO:0005886 plasma membrane IEA --
GO:0009986 cell surface IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RER1: view

Pathways & Interactions for RER1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER IDA 9309388
GO:0007528 neuromuscular junction development IEA --
GO:0071340 skeletal muscle acetylcholine-gated channel clustering IEA --
GO:1903078 positive regulation of protein localization to plasma membrane IEA --
genes like me logo Genes that share ontologies with RER1: view

No data available for Pathways by source and SIGNOR curated interactions for RER1 Gene

Drugs & Compounds for RER1 Gene

No Compound Related Data Available

Transcripts for RER1 Gene

Unigene Clusters for RER1 Gene

RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RER1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c · 9d
SP1: - - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - -
SP4: - - - - - - - - - -
SP5: - - - - - -
SP6: - - -
SP7: - - - - -
SP8:
SP9: - - - - - -
SP10: - -

Relevant External Links for RER1 Gene

GeneLoc Exon Structure for
RER1
ECgene alternative splicing isoforms for
RER1

Expression for RER1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RER1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RER1 Gene



Protein tissue co-expression partners for RER1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RER1 Gene:

RER1

SOURCE GeneReport for Unigene cluster for RER1 Gene:

Hs.525527

Evidence on tissue expression from TISSUES for RER1 Gene

  • Nervous system(4.6)
  • Skin(4.5)
  • Liver(4.3)
  • Lung(3.6)
  • Pancreas(2.2)
genes like me logo Genes that share expression patterns with RER1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RER1 Gene

Orthologs for RER1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RER1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RER1 33 34
  • 99.32 (n)
oppossum
(Monodelphis domestica)
Mammalia RER1 34
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rer1 33 16 34
  • 88.27 (n)
dog
(Canis familiaris)
Mammalia RER1 33 34
  • 88.1 (n)
rat
(Rattus norvegicus)
Mammalia Rer1 33
  • 88.1 (n)
cow
(Bos Taurus)
Mammalia RER1 33 34
  • 86.9 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RER1 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves RER1 33 34
  • 81.8 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia rer1 33
  • 77.04 (n)
Str.10143 33
zebrafish
(Danio rerio)
Actinopterygii rer1 33 34
  • 73.98 (n)
-- 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011996 33
  • 64.02 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11857 35 33 34
  • 62.01 (n)
worm
(Caenorhabditis elegans)
Secernentea rer-1 33 34
  • 60.78 (n)
F46C5.8 35
  • 56 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A08624g 33
  • 57.52 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RER1 33 34
  • 53.5 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL002W 33
  • 53.49 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ATRER1A 33
  • 58.99 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7172 33
rice
(Oryza sativa)
Liliopsida Os01g0106200 33
  • 57.32 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1642 34
  • 64 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU06447 33
  • 63.25 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rer1 33
  • 55.91 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4669 33
Species where no ortholog for RER1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RER1 Gene

ENSEMBL:
Gene Tree for RER1 (if available)
TreeFam:
Gene Tree for RER1 (if available)

Paralogs for RER1 Gene

No data available for Paralogs for RER1 Gene

Variants for RER1 Gene

Sequence variations from dbSNP and Humsavar for RER1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1022921821 uncertain-significance, Zellweger syndrome 2,405,139(+) G/A 3_prime_UTR_variant
rs1029052220 uncertain-significance, Zellweger syndrome 2,405,356(+) C/T 3_prime_UTR_variant
rs1032285488 uncertain-significance, Zellweger syndrome 2,404,968(+) G/A 3_prime_UTR_variant
rs1129171 benign, Zellweger syndrome 2,405,593(+) C/G/T downstream_transcript_variant
rs115735911 uncertain-significance, Zellweger syndrome 2,405,414(+) C/G/T 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for RER1 Gene

Variant ID Type Subtype PubMed ID
dgv1n27 CNV loss 19166990
dgv50n54 CNV loss 21841781
esv2631918 CNV insertion 19546169
nsv1003233 CNV gain 25217958
nsv470684 CNV loss 18288195
nsv512710 CNV insertion 21212237
nsv545072 CNV loss 21841781
nsv823697 CNV gain 20364138
nsv823808 CNV gain 20364138
nsv834668 CNV loss 17160897
nsv951557 CNV deletion 24416366

Variation tolerance for RER1 Gene

Residual Variation Intolerance Score: 30.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.18; 4.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RER1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RER1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RER1 Gene

Disorders for RER1 Gene

Additional Disease Information for RER1

No disorders were found for RER1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RER1 Gene

Publications for RER1 Gene

  1. Human Rer1 is localized to the Golgi apparatus and complements the deletion of the homologous Rer1 protein of Saccharomyces cerevisiae. (PMID: 9309388) Füllekrug J … Schmitt HD (European journal of cell biology 1997) 2 3 4 22 58
  2. Endoplasmic reticulum retention of the gamma-secretase complex component Pen2 by Rer1. (PMID: 17668005) Kaether C … Haass C (EMBO reports 2007) 2 3 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The ER retention protein RER1 promotes alpha-synuclein degradation via the proteasome. (PMID: 28877262) Park HJ … McFarland NR (PloS one 2017) 3 58

Products for RER1 Gene

Sources for RER1 Gene

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