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

Gene ID: 7485, updated on 17-Jun-2024

Summary

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
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Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 
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

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)

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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_001146218.3NP_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:7129
    CHD5; CHD5-like protein
  2. NM_001350293.1NP_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:17139
    CHD5; CHD5-like protein
  3. NM_001350294.2NP_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:7129
    CHD5; CHD5-like protein
  4. NM_001350295.2NP_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:7129
    CHD5; CHD5-like protein
  5. NM_001350296.2NP_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:7129
    CHD5; CHD5-like protein
  6. NM_004627.6NP_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:17163
    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)