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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
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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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