• Gene id: 7485

Gene Summary

• Gene Symbol: GET1   Gene   UCSC   Ensembl
• Aliases: CHD5, WRB
• Gene name: guided entry of tail-anchored proteins factor 1
• Alternate names: guided entry of tail-anchored proteins factor 1, congenital heart disease 5 protein, tail-anchored protein insertion receptor WRB, tryptophan rich basic protein,
• Gene location: 21q22.2 (43389799: 43383916)     Exons: 8     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 602915

Protein Summary

• Protein general information: O00258  
  • Name: Guided entry of tail anchored proteins factor 1 (Congenital heart disease 5 protein) (Tail anchored protein insertion receptor WRB) (Tryptophan rich basic protein)
  • Length: 174  
  • Mass: 19780
• Sequence:

  MSSAAADHWAWLLVLSFVFGCNVLRILLPSFSSFMSRVLQKDAEQESQMRAEIQDMKQELSTVNMMDEFARYARL
  ERKINKMTDKLKTHVKARTAQLAKIKWVISVAFYVLQAALMISLIWKYYSVPVAVVPSKWITPLDRLVAFPTRVA
  GGVGITCWILVCNKVVAIVLHPFS

• Structural information:
  • Interpro: IPR028945  
  • STRING: ENSP00000327716
• Other Databases: GeneCards:  GET1  Malacards:  GET1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0071816	tail-anchored membrane protein insertion into ER membrane	IBA	biological process
GO:0071816	tail-anchored membrane protein insertion into ER membrane	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050808	synapse organization	IEA	biological process
GO:0071599	otic vesicle development	IEA	biological process
GO:0007605	sensory perception of sound	IEA	biological process
GO:0006620	posttranslational protein targeting to endoplasmic reticulum membrane	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq