Aliases for CHERP Gene

Aliases for CHERP Gene

  • Calcium Homeostasis Endoplasmic Reticulum Protein 2 3 4 5
  • ERPROT 213-21 3 4
  • SCAF6 3 4
  • SR-Related CTD Associated Factor 6 3
  • SR-Related CTD-Associated Factor 6 4
  • Protein With Polyglutamine Repeat 3
  • ERPROT213-21 3
  • DAN16 3
  • DAN26 4
  • SRA1 3

External Ids for CHERP Gene

Previous GeneCards Identifiers for CHERP Gene

  • GC19M017122
  • GC19M017020
  • GC19M016473
  • GC19M016629
  • GC19M016197

Summaries for CHERP Gene

GeneCards Summary for CHERP Gene

CHERP (Calcium Homeostasis Endoplasmic Reticulum Protein) is a Protein Coding gene. Diseases associated with CHERP include Primary Cerebellar Degeneration and Spinocerebellar Ataxia 1. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding.

UniProtKB/Swiss-Prot Summary for CHERP Gene

Additional gene information for CHERP Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHERP Gene

Genomics for CHERP Gene

GeneHancer (GH) Regulatory Elements for CHERP Gene

Promoters and enhancers for CHERP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHERP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CHERP gene promoter:
  • GATA-2
  • Lhx3a
  • LHX3b
  • MIF-1
  • NF-1
  • Pax-2
  • Pax-2a
  • Pax-6
  • RORalpha1
  • XBP-1

Genomic Locations for CHERP Gene

Genomic Locations for CHERP Gene
chr19:16,517,889-16,542,452
(GRCh38/hg38)
Size:
24,564 bases
Orientation:
Minus strand
chr19:16,628,700-16,653,341
(GRCh37/hg19)
Size:
24,642 bases
Orientation:
Minus strand

Genomic View for CHERP Gene

Genes around CHERP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHERP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHERP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHERP Gene

Proteins for CHERP Gene

  • Protein details for CHERP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IWX8-CHERP_HUMAN
    Recommended name:
    Calcium homeostasis endoplasmic reticulum protein
    Protein Accession:
    Q8IWX8
    Secondary Accessions:
    • O00302
    • Q4G0Y5
    • Q8WU30
    • Q99492

    Protein attributes for CHERP Gene

    Size:
    916 amino acids
    Molecular mass:
    103702 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAB53327.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH21294.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA69591.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAA69591.1; Type=Frameshift; Positions=450; Evidence={ECO:0000305};

neXtProt entry for CHERP Gene

Post-translational modifications for CHERP Gene

  • Ubiquitination at Lys18 and Lys177
  • Modification sites at PhosphoSitePlus

Other Protein References for CHERP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CHERP Gene

Domains & Families for CHERP Gene

Gene Families for CHERP Gene

Suggested Antigen Peptide Sequences for CHERP Gene

GenScript: Design optimal peptide antigens:
  • SR-related CTD-associated factor 6 (CHERP_HUMAN)
genes like me logo Genes that share domains with CHERP: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CHERP Gene

Function for CHERP Gene

Molecular function for CHERP Gene

UniProtKB/Swiss-Prot Function:
Involved in calcium homeostasis, growth and proliferation.

Phenotypes From GWAS Catalog for CHERP Gene

Gene Ontology (GO) - Molecular Function for CHERP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,HDA 22658674
GO:0005515 protein binding IPI 22365833
GO:0044325 ion channel binding IPI 21454501
genes like me logo Genes that share ontologies with CHERP: view
genes like me logo Genes that share phenotypes with CHERP: view

Animal Model Products

CRISPR Products

miRNA for CHERP Gene

miRTarBase miRNAs that target CHERP

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CHERP Gene

Localization for CHERP Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHERP Gene

Cytoplasm. Cytoplasm, perinuclear region. Endoplasmic reticulum. Note=Distributed throughout the cytoplasm and also localizes to the perinuclear region of both human erythroleukemia (HEL) cells and Jurkat cells. Colocalizes with ITPR1. {ECO:0000269 PubMed:10794731, ECO:0000269 PubMed:12656674, ECO:0000269 PubMed:8010949}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHERP gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 4
cytosol 2

Gene Ontology (GO) - Cellular Components for CHERP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IDA 10794731
GO:0005783 endoplasmic reticulum IEA --
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with CHERP: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CHERP Gene

Pathways & Interactions for CHERP Gene

genes like me logo Genes that share pathways with CHERP: view

Pathways by source for CHERP Gene

Gene Ontology (GO) - Biological Process for CHERP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006396 RNA processing IEA --
GO:0006874 cellular calcium ion homeostasis IDA,IEA 10794731
GO:0007399 nervous system development TAS 8896557
GO:0008285 negative regulation of cell proliferation IDA 10794731
genes like me logo Genes that share ontologies with CHERP: view

No data available for SIGNOR curated interactions for CHERP Gene

Drugs & Compounds for CHERP Gene

(3) Drugs for CHERP Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7773
genes like me logo Genes that share compounds with CHERP: view

Transcripts for CHERP Gene

mRNA/cDNA for CHERP Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHERP Gene

No ASD Table

Relevant External Links for CHERP Gene

GeneLoc Exon Structure for
CHERP
ECgene alternative splicing isoforms for
CHERP

Expression for CHERP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CHERP Gene

Protein differential expression in normal tissues from HIPED for CHERP Gene

This gene is overexpressed in Lymph node (8.6) and Fetal ovary (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CHERP Gene



Protein tissue co-expression partners for CHERP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CHERP Gene:

CHERP

SOURCE GeneReport for Unigene cluster for CHERP Gene:

Hs.740364

mRNA Expression by UniProt/SwissProt for CHERP Gene:

Q8IWX8-CHERP_HUMAN
Tissue specificity: Expressed in brain, placenta, lung, liver, kidney, pancreas, cardiac and skeletal muscle, and in cultured HEL and Dami cells.

Evidence on tissue expression from TISSUES for CHERP Gene

  • Nervous system(4.2)
  • Lung(3.3)
  • Intestine(2)
genes like me logo Genes that share expression patterns with CHERP: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CHERP Gene

Orthologs for CHERP Gene

This gene was present in the common ancestor of animals.

Orthologs for CHERP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHERP 33 32
  • 95.3 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHERP 33
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHERP 33 32
  • 91.08 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHERP 33
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHERP 33 32
  • 90.28 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cherp 32
  • 86.29 (n)
mouse
(Mus musculus)
Mammalia Cherp 17 33 32
  • 85.12 (n)
chicken
(Gallus gallus)
Aves CHERP 33 32
  • 74.75 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHERP 33
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cherp 32
  • 72.21 (n)
African clawed frog
(Xenopus laevis)
Amphibia cherp-prov 32
zebrafish
(Danio rerio)
Actinopterygii cherp 33 32
  • 72.76 (n)
OneToOne
iktdsubc_2h12 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9770 32
fruit fly
(Drosophila melanogaster)
Insecta scaf6 33
  • 36 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea tag-65 33
  • 27 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5488 33
  • 39 (a)
OneToOne
Cin.2440 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2440 32
Species where no ortholog for CHERP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CHERP Gene

ENSEMBL:
Gene Tree for CHERP (if available)
TreeFam:
Gene Tree for CHERP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CHERP: view image

Paralogs for CHERP Gene

No data available for Paralogs for CHERP Gene

Variants for CHERP Gene

Sequence variations from dbSNP and Humsavar for CHERP Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000003678 -- 16,543,754(-) G/C upstream_transcript_variant
rs1000046955 -- 16,530,095(-) G/C intron_variant
rs1000175285 -- 16,533,501(-) T/C intron_variant
rs1000190575 -- 16,534,062(-) T/C intron_variant
rs1000211722 -- 16,539,324(-) T/A intron_variant

Variation tolerance for CHERP Gene

Residual Variation Intolerance Score: 4.71% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.97; 19.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CHERP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHERP

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CHERP Gene

Disorders for CHERP Gene

MalaCards: The human disease database

(3) MalaCards diseases for CHERP Gene - From: Novoseek

Disorder Aliases PubMed IDs
primary cerebellar degeneration
  • spinocerebellar degeneration
spinocerebellar ataxia 1
  • sca1
autosomal dominant cerebellar ataxia
  • spinocerebellar ataxia
- elite association - COSMIC cancer census association via MalaCards
Search CHERP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CHERP

genes like me logo Genes that share disorders with CHERP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CHERP Gene

Publications for CHERP Gene

  1. Cloning of human Ca2+ homoeostasis endoplasmic reticulum protein (CHERP): regulated expression of antisense cDNA depletes CHERP, inhibits intracellular Ca2+ mobilization and decreases cell proliferation. (PMID: 10794731) Laplante JM … Feinstein MB (The Biochemical journal 2000) 2 3 4 23 56
  2. Antisense-mediated loss of calcium homoeostasis endoplasmic reticulum protein (CHERP; ERPROT213-21) impairs Ca2+ mobilization, nuclear factor of activated T-cells (NFAT) activation and cell proliferation in Jurkat T-lymphocytes. (PMID: 12656674) O'Rourke FA … Feinstein MB (The Biochemical journal 2003) 3 4 23 56
  3. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. (PMID: 8896557) Imbert G … Brice A (Nature genetics 1996) 2 3 4 56
  4. Nuclear actin interactome analysis links actin to KAT14 histone acetyl transferase and mRNA splicing. (PMID: 30890647) Viita T … Vartiainen MK (Journal of cell science 2019) 3 56
  5. Insights into the ubiquitin-proteasome system of human embryonic stem cells. (PMID: 29511261) Saez I … Vilchez D (Scientific reports 2018) 3 56

Products for CHERP Gene

Sources for CHERP Gene