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

Gene

• Entrez ID: 7485
• Gene name: Guided entry of tail-anchored proteins factor 1
• Gene symbol: GET1
• Synonyms (NCBI Gene): CHD5, WRB
• Chromosome: 21
• Chromosome location: 21q22.2
• Summary: 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)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	31417168, 32187542, 32296183
GO:0005634	Component	Nucleus	TAS	9544840
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	NAS	32910895
GO:0006620	Process	Post-translational protein targeting to endoplasmic reticulum membrane	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0016020	Component	Membrane	IEA
GO:0043495	Function	Protein-membrane adaptor activity	IBA
GO:0043529	Component	GET complex	IBA
GO:0043529	Component	GET complex	IDA	32910895
GO:0043529	Component	GET complex	IPI	23041287, 32910895
GO:0045048	Process	Protein insertion into ER membrane	IDA	32187542
GO:0045048	Process	Protein insertion into ER membrane	IMP	31417168
GO:0045048	Process	Protein insertion into ER membrane	NAS	23041287
GO:0050808	Process	Synapse organization	IEA
GO:0050821	Process	Protein stabilization	IDA	31417168, 32187542
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0071599	Process	Otic vesicle development	IEA
GO:0071816	Process	Tail-anchored membrane protein insertion into ER membrane	IBA
GO:0071816	Process	Tail-anchored membrane protein insertion into ER membrane	IDA	27226539
GO:0071816	Process	Tail-anchored membrane protein insertion into ER membrane	IEA
GO:0071816	Process	Tail-anchored membrane protein insertion into ER membrane	IMP	23041287
GO:0090150	Process	Establishment of protein localization to membrane	IEA

Other IDs

• MIM: 602915
• HGNC: 12790
• e!Ensembl: ENSG00000182093

Protein

• 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:

  MSSAAADHWAWLLVLSFVFGCNVLRILLPSFSSFMSRVLQKDAEQESQMRAEIQDMKQEL
  STVNMMDEFARYARLERKINKMTDKLKTHVKARTAQLAKIKWVISVAFYVLQAALMISLI
  WKYYSVPVAVVPSKWITPLDRLVAFPTRVAGGVGITCWILVCNKVVAIVLHPFS

• Sequence length: 174

Pathways

KEGG:

Protein export

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bipolar Disorder	Bipolar disorder	Pubtator	24501229	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	31733648		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	31733648		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	19207181		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	9544840		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	19207181, 27100087, 9480850, 9544840		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	24501229	Associate	★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	GWASCAT_DG	30098192		★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	Pubtator	30098192	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism Type 1B	Pseudohypoparathyroidism	Pubtator	24501229	Associate	★☆☆☆☆ Found in Text Mining only