GET1 (guided entry of tail-anchored proteins factor 1)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7485
Gene name Gene Name - the full gene name approved by the HGNC.
Guided entry of tail-anchored proteins factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GET1
Synonyms (NCBI Gene) Gene synonyms aliases
CHD5, WRB
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.2
Summary Summary of gene provided in NCBI Entrez 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 ge
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus TAS 9544840
GO:0005783 Component Endoplasmic reticulum IBA 21873635
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0016021 Component Integral component of membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602915 12790 ENSG00000182093
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O00258
Protein name Guided entry of tail-anchored proteins factor 1 (Congenital heart disease 5 protein) (Tail-anchored protein insertion receptor WRB) (Tryptophan-rich basic protein)
Protein function Required for the post-translational delivery of tail-anchored (TA) proteins to the endoplasmic reticulum (ER) (PubMed:21444755, PubMed:23041287, PubMed:24392163, PubMed:27226539). Together with CAMLG/GET2, acts as a membrane receptor for soluble
PDB 6SO5 , 8CQZ , 8CR1 , 8CR2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04420 CHD5 12 → 163 CHD5-like protein Family
Sequence
Sequence length 174
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Protein export  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Esotropia Esotropia GWAS
Show/Hide Text Mining Associations (5)
Associations from Text Mining
Disease Name Relationship Type References
Bipolar Disorder Associate 24501229
Down Syndrome Associate 24501229
Esotropia Associate 30098192
Pseudohypoparathyroidism Type 1B Associate 24501229
Silver Russell Syndrome Associate 24501229