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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
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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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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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