GET1 - guided entry of tail-anchored proteins factor 1 Gene

Homo sapiens

Also known as WRB; CHD5

Gene ID: 7485 | Gene type: protein coding

About GET1

Cytogenetic location: 21q22.2 Genomic coordinates (GRCh38): 21:39,380,326-39,428,528 (from NCBI)

This gene has 23 transcripts (splice variants), 164 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 31.9), brain (RPKM 29.8) and 25 other tissues.

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 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]

GET1 Products(6)

mRNA	Protein	Name
NM_001146218.3	NP_001139690.1	guided entry of tail-anchored proteins factor 1 isoform 2
NM_001350293.1	NP_001337222.1	guided entry of tail-anchored proteins factor 1 isoform 3
NM_001350294.2	NP_001337223.1	guided entry of tail-anchored proteins factor 1 isoform 2
NM_001350295.2	NP_001337224.1	guided entry of tail-anchored proteins factor 1 isoform 2
NM_001350296.2	NP_001337225.1	guided entry of tail-anchored proteins factor 1 isoform 2
NM_004627.6	NP_004618.2	guided entry of tail-anchored proteins factor 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	31417168	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in protein insertion into ER membrane	IDA IDA: Inferred from direct assay	32187542	GOA
involved in protein insertion into ER membrane	IMP IMP: Inferred from mutant phenotype	31417168	GOA
involved in protein stabilization	IDA IDA: Inferred from direct assay	31417168	GOA
involved in tail-anchored membrane protein insertion into ER membrane	IDA IDA: Inferred from direct assay	27226539	GOA
involved in tail-anchored membrane protein insertion into ER membrane	IMP IMP: Inferred from mutant phenotype	23041287	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of GET complex	IDA IDA: Inferred from direct assay	32910895	GOA
part of GET complex	IPI IPI: Inferred from physical interaction	23041287	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GET1 Protein Structure

CHD5

0
100
174 a.a.

Protein Preferred Names

Protein Names

guided entry of tail-anchored proteins factor 1

congenital heart disease 5 protein

Related Diseases

Diseases

Alias

Esotropia

Convergence In Manifest Squint	Crossed Eyes
Internal Strabismus	Convergent Concomitant Strabismus
Convergent Squint	Convergent Strabismus
Cross-Eye

Heart Disease

Heart Failure	Congenital Heart Disease
Heart Diseases	Congenital Heart Defects
Congenital Heart Defect	Heart Malformation
Congenital Anomaly Of Heart	Heart Defect
Heart-Congenital Defect	Congenital Heart Disorder
Heart Defects Congenital	Heart Defects, Congenital
Heart Defects	Heart Disease, Congenital
Disease, Heart, Congenital	Congestive Heart Failure

Retroperitoneum Carcinoma

Retroperitoneal Cancer	Malignant Neoplasm Of Retroperitoneum And Peritoneum
Retroperitoneal Neoplasms	Carcinoma Of Retroperitoneum
Carcinoma Of The Retroperitoneum	Malignant Neoplasm Of Retroperitoneum
Malignant Retroperitoneal Cancer	Malignant Tumor Of Peritoneum And Retroperitoneum
Neoplasm Of Retroperitoneum	Neoplasm Of The Retroperitoneum
Retroperitoneal Neoplasm	Tumor Of Retroperitoneum
Malignant Retroperitoneal Tumour	Primary Malignant Neoplasm Of Retroperitoneum
Retroperitoneum Cancer

Pylorospasm

Down Syndrome

Trisomy 21	Complete Trisomy 21 Syndrome
Down'S Syndrome	Trisomy 21 Syndrome
Down'S Syndrome - Trisomy 21	Downs Syndrome
G Trisomy	47,Xx,+21
47,Xy,+21	Trisomy G
Down Syndrome, Susceptibility To	Chromosome 21 Trisomy
Trisomy 21 Nos	Abnormal Autosomes 21

Atrial Septal Defect 2

ASD2	Atrial Heart Septal Defect 2
Atrial Septal Defect-2	Asd Ii
Septal Defect, Atrial, Type 2

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05373	GET1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	GET1	VGNC	VGNC:81314
Rattus norvegicus	GET1	RGD	RGD:735104
Mus musculus	GET1	MGD	MGI:2136882
Bos taurus	GET1	VGNC	VGNC:36970
Felis catus	GET1	VGNC	VGNC:102739

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