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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. Diseases associated with RER1 include charcot-marie-tooth disease. 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.

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

Genomics for RER1 Gene

Regulatory Elements for RER1 Gene

Promoters for RER1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RER1 on UCSC Golden Path with GeneCards custom track

Genomic Location for RER1 Gene

Chromosome:
1
Start:
2,391,314 bp from pter
End:
2,405,444 bp from pter
Size:
14,131 bases
Orientation:
Plus strand

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

Proteomics data for RER1 Gene at MOPED

Post-translational modifications for RER1 Gene

  • Ubiquitination at Lys 14
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for RER1 Gene

Domains & Families for RER1 Gene

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

No data available for Gene Families for RER1 Gene

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.
genes like me logo Genes that share phenotypes with RER1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for RER1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for RER1 Gene COMPARTMENTS Subcellular localization image for RER1 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 3
endoplasmic reticulum 2
vacuole 2
endosome 1
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for RER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009986 cell surface IEA --
GO:0016021 integral component of membrane IEA --
GO:0030173 integral component of Golgi membrane IDA 9309388
genes like me logo Genes that share ontologies with RER1: view

Pathways & Interactions for RER1 Gene

SuperPathways for RER1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0071340 skeletal muscle acetylcholine-gated channel clustering IEA --
GO:0090004 positive regulation of establishment 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:

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 for RER1 Gene

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



SOURCE GeneReport for Unigene cluster for RER1 Gene Hs.525527

genes like me logo Genes that share expression patterns with RER1: view

Protein tissue co-expression partners for RER1 Gene

- Elite partner

Primer Products

In Situ Assay Products

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 and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia RER1 35
  • 86.9 (n)
  • 96.94 (a)
RER1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RER1 35
  • 88.1 (n)
  • 96.43 (a)
RER1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rer1 35
  • 88.27 (n)
  • 96.43 (a)
Rer1 16
Rer1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RER1 35
  • 99.32 (n)
  • 99.49 (a)
RER1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rer1 35
  • 88.1 (n)
  • 96.43 (a)
oppossum
(Monodelphis domestica)
Mammalia RER1 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RER1 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves RER1 35
  • 81.8 (n)
  • 94.39 (a)
RER1 36
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rer1 35
  • 77.04 (n)
  • 91.33 (a)
Str.10143 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
rer1 35
  • 73.98 (n)
  • 84.18 (a)
rer1 36
  • 84 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11857 37
  • 63 (a)
CG11857 35
  • 62.01 (n)
  • 65.92 (a)
CG11857 36
  • 49 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011996 35
  • 64.02 (n)
  • 69.89 (a)
worm
(Caenorhabditis elegans)
Secernentea F46C5.8 37
  • 56 (a)
rer-1 35
  • 60.78 (n)
  • 59.89 (a)
rer-1 36
  • 60 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL002W 35
  • 53.49 (n)
  • 47.31 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A08624g 35
  • 57.52 (n)
  • 51.83 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RER1 35
  • 53.5 (n)
  • 50.96 (a)
RER1 36
  • 43 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons ATRER1A 35
  • 58.99 (n)
  • 58.18 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7172 35
rice
(Oryza sativa)
Liliopsida Os01g0106200 35
  • 57.32 (n)
  • 55.03 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4669 35
bread mold
(Neurospora crassa)
Ascomycetes NCU06447 35
  • 63.25 (n)
  • 61.45 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rer1 35
  • 55.91 (n)
  • 53.16 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1642 36
  • 64 (a)
OneToOne
Species with no ortholog for RER1:
  • 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 Sequence Context AA Info Type
rs13888 -- 2,399,484(+) CTCCC(A/C)AAGTG reference, missense
rs14648 -- 2,399,475(+) CTTTT(C/T)TTTCT reference, missense
rs903911 -- 2,395,373(+) AGACA(A/G)GGTGC intron-variant
rs1123571 -- 2,394,570(+) TATCT(A/G)TAAAT intron-variant
rs1129333 -- 2,404,237(-) ACTGG(C/T)ACAAG utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv834668 CNV Loss 17160897
dgv64n71 CNV Loss 21882294
nsv871930 CNV Loss 21882294
nsv870616 CNV Gain 21882294
dgv69n71 CNV Loss 21882294
dgv70n71 CNV Loss 21882294
dgv71n71 CNV Loss 21882294
dgv72n71 CNV Loss 21882294
dgv73n71 CNV Loss 21882294
nsv870492 CNV Loss 21882294
dgv74n71 CNV Loss 21882294
dgv75n71 CNV Loss 21882294
nsv823697 CNV Gain 20364138
nsv470684 CNV Loss 18288195
nsv870567 CNV Loss 21882294
dgv76n71 CNV Loss 21882294
esv2631918 CNV Insertion 19546169
dgv1n27 CNV Loss 19166990
nsv512710 CNV Insertion 21212237
nsv823808 CNV Gain 20364138
dgv77n71 CNV Gain 21882294

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)

Relevant External Links for RER1 Gene

HapMap Linkage Disequilibrium report
RER1

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

Disorders for RER1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RER1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease
  • dejerine-sottas disease
- elite association - COSMIC cancer census association via MalaCards
Search RER1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RER1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RER1
genes like me logo Genes that share disorders with RER1: view

No data available for 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) Fuellekrug J. … Schmitt H. (Eur. J. Cell Biol. 1997) 2 3 4 23 67
  2. Endoplasmic reticulum retention of the gamma-secretase complex component Pen2 by Rer1. (PMID: 17668005) Kaether C. … Haass C. (EMBO Rep. 2007) 2 3
  3. Control of a neuronal morphology program by an RNA-binding zinc finger protein, Unkempt. (PMID: 25737280) Murn J. … Shi Y. (Genes Dev. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for RER1 Gene

Sources for RER1 Gene

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