This gene is located in the candidate region for congenital heart disease (CHD) in Down syndrome (DS). It encodes a basic protein that functions as a receptor that promotes insertion of tail-anchored proteins in the endoplasmic reticulum membrane. This gene is located at a maternally-methylated differentially methylated region (DMR); however, its transcription may be biallelic,... See more...

Aliases for GET1 Gene

Aliases for GET1 Gene

  • Guided Entry Of Tail-Anchored Proteins Factor 1 2 3 4 5
  • CHD5 2 3 4
  • Tail-Anchored Protein Insertion Receptor WRB 3 4
  • Congenital Heart Disease 5 Protein 3 4
  • Tryptophan Rich Basic Protein 2 3
  • WRB 3 4
  • Tryptophan-Rich Basic Protein 4
  • GET1 5

External Ids for GET1 Gene

Previous HGNC Symbols for GET1 Gene

  • WRB

Summaries for GET1 Gene

Entrez Gene Summary for GET1 Gene

  • This gene is located in the candidate region for congenital heart disease (CHD) in Down syndrome (DS). It encodes a basic protein that functions as a receptor that promotes insertion of tail-anchored proteins in the endoplasmic reticulum membrane. This gene is located at a maternally-methylated differentially methylated region (DMR); however, its transcription may be biallelic, not imprinted. Alternative splicing results in different transcript variants. A pseudogene has been defined on chromosome 4. [provided by RefSeq, Apr 2017]

GeneCards Summary for GET1 Gene

GET1 (Guided Entry Of Tail-Anchored Proteins Factor 1) is a Protein Coding gene. Diseases associated with GET1 include Vagus Nerve Disease and Heart Disease. An important paralog of this gene is RPS3.

UniProtKB/Swiss-Prot Summary for GET1 Gene

  • Receptor for GET3/TRC40-mediated insertion of tail-anchored (TA) proteins into the ER membrane.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GET1 Gene

Genomics for GET1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GET1 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
GH21J039384 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 663.1 +9.3 9301 4.6 HNRNPL GATAD2A CTCF PRDM10 ZNF629 TFE3 IKZF1 NFKBIZ KDM1A ZNF692 GET1 HMGN1 SH3BGR BRWD1 GET1-SH3BGR HSALNG0133134 piR-57460-427 LCA5L
GH21J039377 Enhancer 0.6 Ensembl 600.7 -0.1 -61 0.9 IKZF1 MTA2 MGA KLF7 FOXK2 ZSCAN5C MEF2D KLF4 CTCF ZNF384 GET1 RNF6P1 lnc-HMGN1-2 HMGN1
GH21J039379 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 49.5 +3.0 3003 2.2 BRCA1 CREB1 PRDM10 ZNF629 RFX1 ZNF692 POLR2A JUND ZNF143 ZIC2 GET1-SH3BGR HSALNG0133134 SH3BGR GET1 HMGN1 BRWD1 piR-57460-427 LCA5L
GH21J039346 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 22.3 -29.2 -29164 5.9 ARHGAP35 SP1 CREB1 HNRNPL PRDM10 ZNF629 LEF1 IKZF1 KDM1A POLR2A HMGN1 BRWD1 LOC105372804 lnc-HMGN1-1 PSMG1 GET1 SH3BGR LCA5L SNODB737
GH21J039311 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 17.1 -64.0 -64010 3.8 ZNF221 SP1 CREB1 HNRNPL TEAD4 PRDM10 ZNF629 TFE3 LEF1 IKZF1 BRWD1 BRWD1-AS2 lnc-HMGN1-4 piR-42927 HMGN1 PSMG1 GET1 LCA5L BRWD1-AS1 SH3BGR
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GET1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GET1

Genomic Locations for GET1 Gene

Genomic Locations for GET1 Gene
chr21:39,377,698-39,428,528
(GRCh38/hg38)
Size:
50,831 bases
Orientation:
Plus strand
chr21:40,752,170-40,800,454
(GRCh37/hg19)
Size:
48,285 bases
Orientation:
Plus strand

Genomic View for GET1 Gene

Genes around GET1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GET1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GET1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GET1 Gene

Proteins for GET1 Gene

  • Protein details for GET1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00258-GET1_HUMAN
    Recommended name:
    Guided entry of tail-anchored proteins factor 1
    Protein Accession:
    O00258
    Secondary Accessions:
    • A8KAP8
    • A8MQ44
    • D3DSH9
    • O60740

    Protein attributes for GET1 Gene

    Size:
    174 amino acids
    Molecular mass:
    19780 Da
    Quaternary structure:
    • Interacts with GET3/TRC40.

    Alternative splice isoforms for GET1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GET1 Gene

Post-translational modifications for GET1 Gene

  • Ubiquitination at Lys41 and Lys57
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GET1 Gene

Domains & Families for GET1 Gene

Gene Families for GET1 Gene

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

Protein Domains for GET1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GET1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60821, highly similar to Tryptophan-rich protein (A8MQ44_HUMAN)
  • cDNA FLJ60680, moderately similar to Tryptophan-rich protein (B4DLW3_HUMAN)
  • cDNA FLJ51808, highly similar to Tryptophan-rich protein (B7Z1T1_HUMAN)
  • WRB protein (Q0VGA7_HUMAN)
  • Congenital heart disease 5 protein (WRB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00258

UniProtKB/Swiss-Prot:

GET1_HUMAN :
  • Belongs to the WRB/GET1 family.
Family:
  • Belongs to the WRB/GET1 family.
genes like me logo Genes that share domains with GET1: view

Function for GET1 Gene

Molecular function for GET1 Gene

UniProtKB/Swiss-Prot Function:
Receptor for GET3/TRC40-mediated insertion of tail-anchored (TA) proteins into the ER membrane.

Phenotypes From GWAS Catalog for GET1 Gene

genes like me logo Genes that share phenotypes with GET1: view

Animal Models for GET1 Gene

MGI Knock Outs for GET1:
  • Get1 Get1<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GET1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GET1 Gene

Localization for GET1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GET1 Gene

Endoplasmic reticulum 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 GET1 gene
Compartment Confidence
nucleus 4
endoplasmic reticulum 4
plasma membrane 3
cytosol 2
golgi apparatus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endosome 1

Gene Ontology (GO) - Cellular Components for GET1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 9544840
GO:0005783 endoplasmic reticulum IBA 21873635
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GET1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GET1 Gene

Pathways & Interactions for GET1 Gene

PathCards logo

SuperPathways for GET1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GET1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006620 posttranslational protein targeting to endoplasmic reticulum membrane IEA --
GO:0007605 sensory perception of sound IEA --
GO:0050808 synapse organization IEA --
GO:0071599 otic vesicle development IEA --
GO:0071816 tail-anchored membrane protein insertion into ER membrane IEA,IBA 21873635
genes like me logo Genes that share ontologies with GET1: view

No data available for Pathways by source and SIGNOR curated interactions for GET1 Gene

Drugs & Compounds for GET1 Gene

(7) Drugs for GET1 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Methylphenidate Approved, Investigational Pharma 431

(4) Additional Compounds for GET1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GET1: view

Transcripts for GET1 Gene

mRNA/cDNA for GET1 Gene

6 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GET1

Alternative Splicing Database (ASD) splice patterns (SP) for GET1 Gene

No ASD Table

Relevant External Links for GET1 Gene

GeneLoc Exon Structure for
GET1

Expression for GET1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GET1

SOURCE GeneReport for Unigene cluster for GET1 Gene:

Hs.744958

Evidence on tissue expression from TISSUES for GET1 Gene

  • Nervous system(4.6)
  • Heart(4.4)
  • Skin(2.7)
  • Eye(2.4)
  • Blood(2.3)
  • Stomach(2.2)
  • Muscle(2.1)
  • Kidney(2.1)
  • Liver(2.1)
  • Intestine(2)
genes like me logo Genes that share expression patterns with GET1: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GET1 Gene

Orthologs for GET1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GET1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia WRB 30 31
  • 99.62 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia WRB 30 31
  • 90.42 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Wrb 30 31
  • 86.21 (n)
OneToOne
Get1 17
Dog
(Canis familiaris)
Mammalia WRB 31
  • 85 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Wrb 30
  • 84.1 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia WRB 31
  • 79 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia WRB 31
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves WRB 30 31
  • 79.89 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia WRB 31
  • 75 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia wrb 30
  • 73.33 (n)
Str.9044 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.11476 30
Zebrafish
(Danio rerio)
Actinopterygii wrb 30 31
  • 71.6 (n)
OneToOne
wuft06h05 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1462 30
Species where no ortholog for GET1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for GET1 Gene

ENSEMBL:
Gene Tree for GET1 (if available)
TreeFam:
Gene Tree for GET1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GET1: view image

Paralogs for GET1 Gene

Paralogs for GET1 Gene

Pseudogenes.org Pseudogenes for GET1 Gene

genes like me logo Genes that share paralogs with GET1: view

Variants for GET1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GET1 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
rs35946782 - p.Val110Ile

Additional dbSNP identifiers (rs#s) for GET1 Gene

Structural Variations from Database of Genomic Variants (DGV) for GET1 Gene

Variant ID Type Subtype PubMed ID
dgv4433n100 CNV gain 25217958
esv3557716 CNV deletion 23714750
nsv1061454 CNV gain 25217958

Variation tolerance for GET1 Gene

Residual Variation Intolerance Score: 60.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.64; 13.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GET1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GET1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GET1 Gene

Disorders for GET1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for GET1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
vagus nerve disease
  • disorder of pneumogastric [10th] nerve
heart disease
  • congenital heart disease
esotropia
  • convergence in manifest squint
down syndrome
  • trisomy 21
pylorospasm
- elite association - COSMIC cancer census association via MalaCards
Search GET1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with GET1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GET1 Gene

Publications for GET1 Gene

  1. Identification and characterization of a new human cDNA from chromosome 21q22.3 encoding a basic nuclear protein. (PMID: 9544840) Egeo A … Scartezzini P (Human genetics 1998) 2 3 4 23
  2. WRB is the receptor for TRC40/Asna1-mediated insertion of tail-anchored proteins into the ER membrane. (PMID: 21444755) Vilardi F … Dobberstein B (Journal of cell science 2011) 2 3 4
  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
  4. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for GET1 Gene

Sources for GET1 Gene