U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

GET1 guided entry of tail-anchored proteins factor 1 [ Homo sapiens (human) ]

Gene ID: 7485, updated on 5-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
GET1provided by HGNC
Official Full Name
guided entry of tail-anchored proteins factor 1provided by HGNC
Primary source
HGNC:HGNC:12790
See related
Ensembl:ENSG00000182093 MIM:602915; AllianceGenome:HGNC:12790
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
WRB; CHD5
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]
Expression
Ubiquitous expression in testis (RPKM 31.9), brain (RPKM 29.8) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See GET1 in Genome Data Viewer
Location:
21q22.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (39380326..39428528)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (37764912..37813128)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (40752252..40800454)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372804 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:40723570-40723774 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:40731973-40732197 Neighboring gene GET1-SH3BGR readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18468 Neighboring gene ring finger protein 6 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18469 Neighboring gene lebercilin LCA5 like Neighboring gene Sharpr-MPRA regulatory region 12540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13328 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:40823338-40823876 Neighboring gene microRNA 6508 Neighboring gene SH3 domain binding glutamate rich protein Neighboring gene MYL6 pseudogene 2

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect. Shaaban S, et al. Invest Ophthalmol Vis Sci, 2018 Aug 1. PMID 30098192, Free PMC Article
  2. Identification and characterization of a new human cDNA from chromosome 21q22.3 encoding a basic nuclear protein. Egeo A, et al. Hum Genet, 1998 Mar. PMID 9544840
  3. Differential Modes of Orphan Subunit Recognition for the WRB/CAML Complex. Inglis AJ, et al. Cell Rep, 2020 Mar 17. PMID 32187542, Free PMC Article
  4. The WRB Subunit of the Get3 Receptor is Required for the Correct Integration of its Partner CAML into the ER. Carvalho HJF, et al. Sci Rep, 2019 Aug 15. PMID 31417168, Free PMC Article
  5. WRB is the receptor for TRC40/Asna1-mediated insertion of tail-anchored proteins into the ER membrane. Vilardi F, et al. J Cell Sci, 2011 Apr 15. PMID 21444755, Free PMC Article

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A significant association with nonaccommodative esotropia was discovered (odds ratio [OR] = 1.41, P = 2.84 x 10-09) and replicated (OR = 1.23, P = 0.01) at rs2244352 [T] located within intron 1 of the WRB (tryptophan rich basic protein) gene on chromosome 21
    Title: Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect.
  2. WRB gene contains a maternally imprinted differentially methylated region (DMR). The maternally inherited 5mCpG imprints at the WRB DMR are uncoupled from the parental allele expression of WRB and ten neighboring genes in twelve biosamples (brain, blood, fallopian tube, fetal large and small intestine, hESCs, large airway epithelial cells, thyroid, muscle, epidermal keratinocytes, ovary, skin, and testis).
    Title: Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners.
  3. Results indicate calcium-modulating cyclophilin ligand (CAML) and WRB as components of the TRC40 receptor complex and a crucial mechanism for driving ER membrane insertion of TA proteins in mammalian cells.
    Title: Molecular machinery for insertion of tail-anchored membrane proteins into the endoplasmic reticulum membrane in mammalian cells.
  4. The coiled-coil domain of WRB is the binding site for TRC40/Asna1.
    Title: WRB is the receptor for TRC40/Asna1-mediated insertion of tail-anchored proteins into the ER membrane.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Replication of previous genome-wide association studies of bone mineral density in premenopausal American women.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ51808

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-membrane adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in protein insertion into ER membrane IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein insertion into ER membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein insertion into ER membrane NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in protein stabilization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in tail-anchored membrane protein insertion into ER membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in tail-anchored membrane protein insertion into ER membrane IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in tail-anchored membrane protein insertion into ER membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of GET complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of GET complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of GET complex IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in endoplasmic reticulum membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in nucleus TAS
Traceable Author Statement
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
guided entry of tail-anchored proteins factor 1
Names
congenital heart disease 5 protein
tail-anchored protein insertion receptor WRB
tryptophan rich basic protein

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_045002.3 RefSeqGene

    Range
    5040..22603
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1060

mRNA and Protein(s)

  1. NM_001146218.3 → NP_001139690.1  guided entry of tail-anchored proteins factor 1 isoform 2

    See identical proteins and their annotated locations for NP_001139690.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents use of an alternate promoter compared to variant 1.
    Source sequence(s)
    AF064861, AK299144, AW001614, DB498697
    Consensus CDS
    CCDS54485.1
    UniProtKB/TrEMBL
    H7BYE5
    Related
    ENSP00000370084.1, ENST00000380708.5
    Conserved Domains (1) summary
    pfam04420
    Location:7 → 129
    CHD5; CHD5-like protein

  2. NM_001350293.1 → NP_001337222.1  guided entry of tail-anchored proteins factor 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AF064861
    UniProtKB/TrEMBL
    Q0VGA7
    Conserved Domains (1) summary
    pfam04420
    Location:17 → 139
    CHD5; CHD5-like protein

  3. NM_001350294.2 → NP_001337223.1  guided entry of tail-anchored proteins factor 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AF064861
    Consensus CDS
    CCDS54485.1
    UniProtKB/TrEMBL
    H7BYE5
    Related
    ENSP00000381737.1, ENST00000398753.5
    Conserved Domains (1) summary
    pfam04420
    Location:7 → 129
    CHD5; CHD5-like protein

  4. NM_001350295.2 → NP_001337224.1  guided entry of tail-anchored proteins factor 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AF064861
    Consensus CDS
    CCDS54485.1
    UniProtKB/TrEMBL
    H7BYE5
    Conserved Domains (1) summary
    pfam04420
    Location:7 → 129
    CHD5; CHD5-like protein

  5. NM_001350296.2 → NP_001337225.1  guided entry of tail-anchored proteins factor 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AF064861
    Consensus CDS
    CCDS54485.1
    UniProtKB/TrEMBL
    H7BYE5
    Conserved Domains (1) summary
    pfam04420
    Location:7 → 129
    CHD5; CHD5-like protein

  6. NM_004627.6 → NP_004618.2  guided entry of tail-anchored proteins factor 1 isoform 1

    See identical proteins and their annotated locations for NP_004618.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform.
    Source sequence(s)
    AF064861, AW001614
    Consensus CDS
    CCDS13664.1
    UniProtKB/Swiss-Prot
    A8KAP8, A8MQ44, D3DSH9, O00258, O60740
    UniProtKB/TrEMBL
    A0A3B3ISE9
    Related
    ENSP00000496813.1, ENST00000649170.1
    Conserved Domains (1) summary
    pfam04420
    Location:17 → 163
    CHD5; CHD5-like protein

RNA

  1. NR_146614.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AF064861

  2. NR_146615.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) contains an alternate 3' exon structure compared to variant 1.
    Source sequence(s)
    AF064861, AF121781

  3. NR_146616.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) represents use of an alternate promoter compared to variant 1.
    Source sequence(s)
    AF064861, AK310268

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    39380326..39428528
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    37764912..37813128
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O00258.2 GenPept UniProtKB/Swiss-Prot:O00258

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous