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    CHERP calcium homeostasis endoplasmic reticulum protein [ Homo sapiens (human) ]

    Gene ID: 10523, updated on 7-Apr-2024

    Summary

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    Official Symbol
    CHERPprovided by HGNC
    Official Full Name
    calcium homeostasis endoplasmic reticulum proteinprovided by HGNC
    Primary source
    HGNC:HGNC:16930
    See related
    Ensembl:ENSG00000085872 MIM:618539; AllianceGenome:HGNC:16930
    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
    SRA1; DAN16; SCAF6
    Summary
    Enables transmembrane transporter binding activity. Involved in positive regulation of calcineurin-NFAT signaling cascade and release of sequestered calcium ion into cytosol. Acts upstream of or within cellular calcium ion homeostasis and negative regulation of cell population proliferation. Located in perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 13.3), spleen (RPKM 10.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    19p13.11
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (16517894..16542437, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (16652683..16677227, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (16628705..16653248, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene epidermal growth factor receptor pathway substrate 15 like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14231 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16528701-16529304 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16531117-16531720 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16531721-16532324 Neighboring gene ribosomal protein S2 pseudogene 51 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16551872-16552372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16552373-16552873 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14232 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:16555578-16556777 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16564379-16564879 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16565415-16565914 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16567358-16568116 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16572441-16573108 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16573109-16573776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16575487-16576411 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16581959-16582870 Neighboring gene Sharpr-MPRA regulatory region 3003 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16606242-16606742 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16606743-16607243 Neighboring gene calreticulin 3 Neighboring gene chromosome 19 open reading frame 44 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10302 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10303 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10304 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14237 Neighboring gene RNA, 7SL, cytoplasmic 146, pseudogene Neighboring gene solute carrier family 35 member E1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16680351-16680851 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10305 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10306 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16683261-16684135 Neighboring gene uncharacterized LOC105372295 Neighboring gene mediator complex subunit 26

    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. Re-evaluation of the role of calcium homeostasis endoplasmic reticulum protein (CHERP) in cellular calcium signaling. Lin-Moshier Y, et al. J Biol Chem, 2013 Jan 4. PMID 23148228, Free PMC Article
    2. Cloning of human Ca2+ homoeostasis endoplasmic reticulum protein (CHERP): regulated expression of antisense cDNA depletes CHERP, inhibits intracellular Ca2+ mobilization and decreases cell proliferation. Laplante JM, et al. Biochem J, 2000 May 15. PMID 10794731, Free PMC Article
    3. U2-related proteins CHERP and SR140 contribute to colorectal tumorigenesis via alternative splicing regulation. Wang Q, et al. Int J Cancer, 2019 Nov 15. PMID 30977118
    4. Nuclear ALG-2 protein interacts with Ca2+ homeostasis endoplasmic reticulum protein (CHERP) Ca2+-dependently and participates in regulation of alternative splicing of inositol trisphosphate receptor type 1 (IP3R1) pre-mRNA. Sasaki-Osugi K, et al. J Biol Chem, 2013 Nov 15. PMID 24078636, Free PMC Article
    5. Identification of novel ryanodine receptor 1 (RyR1) protein interaction with calcium homeostasis endoplasmic reticulum protein (CHERP). Ryan T, et al. J Biol Chem, 2011 May 13. PMID 21454501, Free PMC Article

    See all (104) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Study observed that CHERP and its binding partner SR140 are significantly upregulated in human clinical colorectal cancer tissues (CRC) and clarified how CHERP/SR140 exert an oncogenic role in CRC development partially through regulating expression of UPF3A variants.
      Title: U2-related proteins CHERP and SR140 contribute to colorectal tumorigenesis via alternative splicing regulation.
    2. CHERP and ALG-2 participate in regulation of alternative splicing of IP3R1 pre-mRNA and provide new insights into post-transcriptional regulation of splicing variants in Ca(2+) signaling pathways.
      Title: Nuclear ALG-2 protein interacts with Ca2+ homeostasis endoplasmic reticulum protein (CHERP) Ca2+-dependently and participates in regulation of alternative splicing of inositol trisphosphate receptor type 1 (IP3R1) pre-mRNA.
    3. analysis of the role of calcium homeostasis endoplasmic reticulum protein (CHERP) in cellular calcium signaling
      Title: Re-evaluation of the role of calcium homeostasis endoplasmic reticulum protein (CHERP) in cellular calcium signaling.
    4. CHERP is an RyR1 interacting protein that may be involved in the regulation of excitation-contraction coupling
      Title: Identification of novel ryanodine receptor 1 (RyR1) protein interaction with calcium homeostasis endoplasmic reticulum protein (CHERP).
    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)

    Genotypes

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane transporter binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular calcium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within intracellular calcium ion homeostasis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of calcineurin-NFAT signaling cascade IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in release of sequestered calcium ion into cytosol IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in perinuclear region of cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sarcoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    calcium homeostasis endoplasmic reticulum protein
    Names
    ERPROT 213-21
    ERPROT213-21
    SR-related CTD associated factor 6
    protein with polyglutamine repeat

    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_006387.6 → NP_006378.3  calcium homeostasis endoplasmic reticulum protein

      See identical proteins and their annotated locations for NP_006378.3

      Status: VALIDATED

      Source sequence(s)
      AA782418, BC021294, U94836
      Consensus CDS
      CCDS42518.1
      UniProtKB/Swiss-Prot
      O00302, Q4G0Y5, Q8IWX8, Q8WU30, Q99492
      UniProtKB/TrEMBL
      J3QK89
      Related
      ENSP00000439856.2, ENST00000546361.7
      Conserved Domains (3) summary
      smart00443
      Location:839 → 889
      G_patch; glycine rich nucleic binding domain
      smart00648
      Location:13 → 65
      SWAP; Suppressor-of-White-APricot splicing regulator
      pfam04818
      Location:212 → 271
      CTD_bind; RNA polymerase II-binding domain

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      16517894..16542437 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      16652683..16677227 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IWX8.3 GenPept UniProtKB/Swiss-Prot:Q8IWX8

    Gene LinkOut

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

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