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

    Gene ID: 7485, updated on 10-Dec-2024

    Summary

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    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
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    Genomic context

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    See GET1 in Genome Data Viewer
    Location:
    21q22.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (39380326..39428528)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (37764912..37813128)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. 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
    2. 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
    3. 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
    4. 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
    5. 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

    See all (29) 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

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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    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_001146218.3 → 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_2024_08

    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

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