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    QRICH1 glutamine rich 1 [ Homo sapiens (human) ]

    Gene ID: 54870, updated on 7-Apr-2024

    Summary

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    Official Symbol
    QRICH1provided by HGNC
    Official Full Name
    glutamine rich 1provided by HGNC
    Primary source
    HGNC:HGNC:24713
    See related
    Ensembl:ENSG00000198218 MIM:617387; AllianceGenome:HGNC:24713
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AB-DIP; VERBRAS
    Summary
    Enables DNA binding activity. Involved in several processes, including PERK-mediated unfolded protein response; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; and positive regulation of transcription, DNA-templated. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 28.0), bone marrow (RPKM 21.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    3p21.31
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (49029707..49094373, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (49057747..49122441, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49067140..49131806, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49058641-49059410 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14349 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14350 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14351 Neighboring gene DALR anticodon binding domain containing 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14352 Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49065964-49066566 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49066567-49067168 Neighboring gene microRNA 191 Neighboring gene inosine monophosphate dehydrogenase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49097169-49097668 Neighboring gene RNA, 7SL, cytoplasmic 182, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:49130628-49131140 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14353 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19851 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19852 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49137787-49138287 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49140762-49141412 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19854 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49142715-49143364 Neighboring gene glutaminyl-tRNA synthetase 1 Neighboring gene microRNA 6890 Neighboring gene ubiquitin specific peptidase 19 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49157555-49158544

    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. A case of Ververi-Brady syndrome due to QRICH1 loss of function and the literature review. Baruch Y, et al. Am J Med Genet A, 2021 Jun. PMID 33738978
    2. QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum. Föhrenbach M, et al. Clin Genet, 2021 Jan. PMID 33009816
    3. Phenotypic spectrum associated with de novo mutations in QRICH1 gene. Ververi A, et al. Clin Genet, 2018 Feb. PMID 28692176
    4. QRICH1 mutations cause a chondrodysplasia with developmental delay. Lui JC, et al. Clin Genet, 2019 Jan. PMID 30281152, Free PMC Article
    5. Amyloid beta peptide binds a novel death-inducing protein, AB-DIP. Lakshmana MK, et al. FASEB J, 2005 Aug. PMID 15923395

    See all (45) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum.
      Title: QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum.
    2. A case of Ververi-Brady syndrome due to QRICH1 loss of function and the literature review.
      Title: A case of Ververi-Brady syndrome due to QRICH1 loss of function and the literature review.
    3. QRICH1 dictates the outcome of ER stress through transcriptional control of proteostasis.
      Title: QRICH1 dictates the outcome of ER stress through transcriptional control of proteostasis.
    4. Our findings indicate that QRICH1 mutations cause not only developmental delay but also a chondrodysplasia characterized by diminished linear growth and abnormal growth plate morphology due to impaired growth plate chondrocyte hypertrophic differentiation.
      Title: QRICH1 mutations cause a chondrodysplasia with developmental delay.
    5. Despite their small number, the patients had a relatively consistent pattern of clinical features suggesting the presence of a QRICH1-associated phenotype. LoF mutations in QRICH1 are suggested as a novel cause of developmental delay.
      Title: Phenotypic spectrum associated with de novo mutations in QRICH1 gene.
    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

    Associated conditions

    Description Tests
    Ververi-Brady syndrome
    MedGen: C4693824 OMIM: 617982 GeneReviews: Not available
    		Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2023-11-15)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2023-11-15)

    ClinGen Genome Curation Page

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20259, MGC131838

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in PERK-mediated unfolded protein response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endoplasmic reticulum unfolded protein response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in integrated stress response signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to endoplasmic reticulum stress IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transcriptional regulator QRICH1
    Names
    glutamine-rich protein 1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001320580.2 → NP_001307509.1  transcriptional regulator QRICH1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-8 encode the same protein.
      Source sequence(s)
      AK292536, BC000978, BC110855, DA238657
      Consensus CDS
      CCDS2787.1
      UniProtKB/Swiss-Prot
      Q2TAL8, Q4G0F7, Q7L621, Q8TEA5
      UniProtKB/TrEMBL
      A0A024R2T7, A0A994J6Q4, A1L3Z7, A1L3Z9
      Related
      ENSP00000412890.1, ENST00000424300.5
      Conserved Domains (2) summary
      cd01671
      Location:6 → 45
      CARD; Caspase activation and recruitment domain: a protein-protein interaction domain
      pfam12012
      Location:605 → 758
      DUF3504; Domain of unknown function (DUF3504)

    2. NM_001320581.2 → NP_001307510.1  transcriptional regulator QRICH1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-8 encode the same protein.
      Source sequence(s)
      BC000978, BC110855, DA238657, DB062422
      Consensus CDS
      CCDS2787.1
      UniProtKB/Swiss-Prot
      Q2TAL8, Q4G0F7, Q7L621, Q8TEA5
      UniProtKB/TrEMBL
      A0A024R2T7, A0A994J6Q4, A1L3Z7, A1L3Z9
      Related
      ENSP00000515516.1, ENST00000703871.1
      Conserved Domains (2) summary
      cd01671
      Location:6 → 45
      CARD; Caspase activation and recruitment domain: a protein-protein interaction domain
      pfam12012
      Location:605 → 758
      DUF3504; Domain of unknown function (DUF3504)

    3. NM_001320582.2 → NP_001307511.1  transcriptional regulator QRICH1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1-8 encode the same protein.
      Source sequence(s)
      BC000978, BC110855, DA238657, DB062061
      Consensus CDS
      CCDS2787.1
      UniProtKB/Swiss-Prot
      Q2TAL8, Q4G0F7, Q7L621, Q8TEA5
      UniProtKB/TrEMBL
      A0A024R2T7, A0A994J6Q4, A1L3Z7, A1L3Z9
      Conserved Domains (2) summary
      cd01671
      Location:6 → 45
      CARD; Caspase activation and recruitment domain: a protein-protein interaction domain
      pfam12012
      Location:605 → 758
      DUF3504; Domain of unknown function (DUF3504)

    4. NM_001320583.2 → NP_001307512.1  transcriptional regulator QRICH1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1-8 encode the same protein.
      Source sequence(s)
      BC000978, BC110855, DA238657, DB062828
      Consensus CDS
      CCDS2787.1
      UniProtKB/Swiss-Prot
      Q2TAL8, Q4G0F7, Q7L621, Q8TEA5
      UniProtKB/TrEMBL
      A0A024R2T7, A0A994J6Q4, A1L3Z7, A1L3Z9
      Related
      ENSP00000515573.1, ENST00000703942.1
      Conserved Domains (2) summary
      cd01671
      Location:6 → 45
      CARD; Caspase activation and recruitment domain: a protein-protein interaction domain
      pfam12012
      Location:605 → 758
      DUF3504; Domain of unknown function (DUF3504)

    5. NM_001320584.1 → NP_001307513.1  transcriptional regulator QRICH1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Variants 1-8 encode the same protein.
      Source sequence(s)
      AC135506, BC000978, BC110855, DA388875
      Consensus CDS
      CCDS2787.1
      UniProtKB/Swiss-Prot
      Q2TAL8, Q4G0F7, Q7L621, Q8TEA5
      UniProtKB/TrEMBL
      A0A024R2T7, A0A994J6Q4, A1L3Z7, A1L3Z9
      Related
      ENSP00000412870.2, ENST00000411682.2
      Conserved Domains (2) summary
      cd01671
      Location:6 → 45
      CARD; Caspase activation and recruitment domain: a protein-protein interaction domain
      pfam12012
      Location:605 → 758
      DUF3504; Domain of unknown function (DUF3504)

    6. NM_001320585.1 → NP_001307514.1  transcriptional regulator QRICH1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 1. Variants 1-8 encode the same protein.
      Source sequence(s)
      AC135506, BC000978, BC110855, HY006215
      Consensus CDS
      CCDS2787.1
      UniProtKB/Swiss-Prot
      Q2TAL8, Q4G0F7, Q7L621, Q8TEA5
      UniProtKB/TrEMBL
      A0A024R2T7, A0A994J6Q4, A1L3Z7, A1L3Z9
      Conserved Domains (2) summary
      cd01671
      Location:6 → 45
      CARD; Caspase activation and recruitment domain: a protein-protein interaction domain
      pfam12012
      Location:605 → 758
      DUF3504; Domain of unknown function (DUF3504)

    7. NM_017730.4 → NP_060200.2  transcriptional regulator QRICH1

      See identical proteins and their annotated locations for NP_060200.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1-8 encode the same protein.
      Source sequence(s)
      AK025013, AK074313, BC000978, BC110855, DA241522
      Consensus CDS
      CCDS2787.1
      UniProtKB/Swiss-Prot
      Q2TAL8, Q4G0F7, Q7L621, Q8TEA5
      UniProtKB/TrEMBL
      A0A024R2T7, A0A994J6Q4, A1L3Z7, A1L3Z9
      Related
      ENSP00000350094.2, ENST00000357496.6
      Conserved Domains (2) summary
      cd01671
      Location:6 → 45
      CARD; Caspase activation and recruitment domain: a protein-protein interaction domain
      pfam12012
      Location:605 → 758
      DUF3504; Domain of unknown function (DUF3504)

    8. NM_198880.3 → NP_942581.1  transcriptional regulator QRICH1

      See identical proteins and their annotated locations for NP_942581.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-8 encode the same protein.
      Source sequence(s)
      AK025013, AK074313, AW673597, BC000978, BC110855, DA241522
      Consensus CDS
      CCDS2787.1
      UniProtKB/Swiss-Prot
      Q2TAL8, Q4G0F7, Q7L621, Q8TEA5
      UniProtKB/TrEMBL
      A0A024R2T7, A0A994J6Q4, A1L3Z7, A1L3Z9
      Related
      ENSP00000378830.2, ENST00000395443.7
      Conserved Domains (2) summary
      cd01671
      Location:6 → 45
      CARD; Caspase activation and recruitment domain: a protein-protein interaction domain
      pfam12012
      Location:605 → 758
      DUF3504; Domain of unknown function (DUF3504)

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      49029707..49094373 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533863.1 → XP_011532165.1  transcriptional regulator QRICH1 isoform X1

      See identical proteins and their annotated locations for XP_011532165.1

      UniProtKB/Swiss-Prot
      Q2TAL8, Q4G0F7, Q7L621, Q8TEA5
      UniProtKB/TrEMBL
      A0A024R2T7, A0A994J6Q4, A1L3Z7, A1L3Z9
      Conserved Domains (2) summary
      cd01671
      Location:6 → 45
      CARD; Caspase activation and recruitment domain: a protein-protein interaction domain
      pfam12012
      Location:605 → 758
      DUF3504; Domain of unknown function (DUF3504)

    2. XM_047448399.1 → XP_047304355.1  transcriptional regulator QRICH1 isoform X1

      UniProtKB/Swiss-Prot
      Q2TAL8, Q4G0F7, Q7L621, Q8TEA5
      UniProtKB/TrEMBL
      A0A024R2T7, A1L3Z7, A1L3Z9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      49057747..49122441 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347004.1 → XP_054202979.1  transcriptional regulator QRICH1 isoform X1

      UniProtKB/Swiss-Prot
      Q2TAL8, Q4G0F7, Q7L621, Q8TEA5
      UniProtKB/TrEMBL
      A0A024R2T7, A1L3Z7, A1L3Z9

    2. XM_054347005.1 → XP_054202980.1  transcriptional regulator QRICH1 isoform X1

      UniProtKB/Swiss-Prot
      Q2TAL8, Q4G0F7, Q7L621, Q8TEA5
      UniProtKB/TrEMBL
      A0A024R2T7, A1L3Z7, A1L3Z9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2TAL8.1 GenPept UniProtKB/Swiss-Prot:Q2TAL8

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