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

Also Known as WRB; CHD5

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7485

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 Referencias Source
enables protein binding IPI
IPI: Inferred from physical interaction
31417168 GOA
Biological Process GO Annotation Evidence Referencias 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 Referencias 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

CHD5: CHD5-like protein (15 - 164)

  • 0
  • 100
  • 174 a.a.
Protein Preferred Names Protein Names

guided entry of tail-anchored proteins factor 1

  • congenital heart disease 5 protein

GET1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Referencias
Intra
GET1 O00258 RTP2 Homo sapiens Q5QGT7
Validated Y2H
32296183
Intra
GET1 O00258 CCL4L1 Homo sapiens Q8NHW4
Validated Y2H
32296183
Intra
GET1 O00258 RASGRP3 Homo sapiens Q8IV61
Validated Y2H
32296183
Intra
GET1 O00258 PLPP4 Homo sapiens Q5VZY2
Validated Y2H
32296183
Intra
GET1 O00258 APOA2 Homo sapiens P02652
Validated Y2H
32296183
Intra
GET1 O00258 STX2 Homo sapiens P32856-2
Validated Y2H
32296183
Intra
GET1 O00258 TMEM42 Homo sapiens Q69YG0
Validated Y2H
32296183
Intra
GET1 O00258 HTATIP2 Homo sapiens Q9BUP3-3
Validated Y2H
32296183
Intra
GET1 O00258 SLC35E3 Homo sapiens Q7Z769
Validated Y2H
32296183
Intra
GET1 O00258 CD302 Homo sapiens Q8IX05
Validated Y2H
32296183
Intra
GET1 O00258 CAMLG Homo sapiens P49069
Validated Y2H
32296183
Intra
GET1 O00258 ABHD5 Homo sapiens Q8WTS1
Validated Y2H
32296183
Intra
GET1 O00258 COX20 Homo sapiens Q5RI15
Validated Y2H
32296183
Intra
GET1 O00258 TECR Homo sapiens Q9NZ01
Validated Y2H
32296183
Intra
GET1 O00258 TFRC Homo sapiens P02786
Validated Y2H
32296183
Intra
GET1 O00258 COMT Homo sapiens P21964
Validated Y2H
32296183
Intra
GET1 O00258 SLC19A3 Homo sapiens Q9BZV2
Validated Y2H
32296183
Intra
GET1 O00258 SLC7A1 Homo sapiens P30825
Validated Y2H
32296183
Intra
GET1 O00258 APOL2 Homo sapiens Q9BQE5
Validated Y2H
32296183
Intra
GET1 O00258 CLCN7 Homo sapiens P51798
Validated Y2H
32296183
Intra
GET1 O00258 TM4SF19 Homo sapiens Q96DZ7
Validated Y2H
32296183
Intra
GET1 O00258 CD53 Homo sapiens P19397
Validated Y2H
32296183
Intra
GET1 O00258 ERG28 Homo sapiens Q9UKR5
Validated Y2H
32296183
Intra
GET1 O00258 HMOX2 Homo sapiens P30519
Validated Y2H
32296183
Intra
GET1 O00258 ORMDL3 Homo sapiens Q8N138
Validated Y2H
32296183
Intra
GET1 O00258 SPTSSA Homo sapiens Q969W0
Validated Y2H
32296183
Intra
GET1 O00258 PTPN9 Homo sapiens P43378
Validated Y2H
32296183
Intra
GET1 O00258 AQP1 Homo sapiens P29972
Validated Y2H
32296183
Intra
GET1 O00258 SERP2 Homo sapiens Q8N6R1
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)
Referencia número Nombre del producto
Efecto
Pureza
Rare Diseases
HY-RS05373 GET1 Human Pre-designed siRNA Set A Pre-designed Set / 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
Others GET1 NCBI