Aliases for CHURC1 Gene

Aliases for CHURC1 Gene

  • Churchill Domain Containing 1 2 3 5
  • Protein Churchill 3 4
  • C14orf52 3 4
  • My015 3
  • Chch 3
  • CHCH 4

External Ids for CHURC1 Gene

Previous HGNC Symbols for CHURC1 Gene

  • C14orf52

Previous GeneCards Identifiers for CHURC1 Gene

  • GC14P063372
  • GC14P064450
  • GC14P065382
  • GC14P065383

Summaries for CHURC1 Gene

GeneCards Summary for CHURC1 Gene

CHURC1 (Churchill Domain Containing 1) is a Protein Coding gene. Diseases associated with CHURC1 include Spindle Cell Hemangioma and Gastrojejunal Ulcer.

UniProtKB/Swiss-Prot Summary for CHURC1 Gene

  • Transcriptional activator that mediates FGF signaling during neural development. Plays a role in the regulation of cell movement (By similarity). Does not bind DNA by itself.

Additional gene information for CHURC1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHURC1 Gene

Genomics for CHURC1 Gene

GeneHancer (GH) Regulatory Elements for CHURC1 Gene

Promoters and enhancers for CHURC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J064913 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 537.3 +0.5 540 2.6 FOXK2 ZBTB40 ZNF217 EP300 SIN3A NRF1 TCF12 POLR2G GTF2E2 PHF8 CHURC1 CHURC1-FNTB FNTB GPX2 SPTB ENSG00000259118 NONHSAG015228.2
GH14J064922 Promoter/Enhancer 0.7 EPDnew Ensembl 621.1 +9.0 9039 4.4 RBM25 SP7 ZNF121 CHURC1 NONHSAG015228.2 SPTB RAB15 CHURC1-FNTB
GH14J064937 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 131.8 +26.6 26646 6 EP300 FOXK2 CTCF TCF12 POLR2G NCOR1 KDM6A TCF7 KLF4 CUX1 GPX2 CHURC1 CHURC1-FNTB RPPH1-2P RAB15 SPTB lnc-FNTB-2 NONHSAG015228.2
GH14J064926 Enhancer 0.8 Ensembl ENCODE 120.9 +15.2 15240 6.8 NCOR1 ZIC2 TEAD1 NFE2 MAFG FEZF1 KDM1A HNF4A SOX5 ZNF687 CHURC1 SPTB lnc-FNTB-2 NONHSAG015228.2 CHURC1-FNTB
GH14J064951 Enhancer 0.9 Ensembl ENCODE 48.8 +38.1 38057 2 CTCF MYC RELA ZNF316 MEF2B NFE2 EBF1 IKZF1 MAFK MAFG lnc-GPX2-2 CHURC1 RAB15 CHURC1-FNTB RPPH1-2P SPTB
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHURC1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CHURC1

Top Transcription factor binding sites by QIAGEN in the CHURC1 gene promoter:
  • C/EBPalpha
  • CHOP-10
  • FOXC1
  • HNF-1
  • HNF-1A
  • ISGF-3
  • LyF-1
  • Nkx2-5
  • TBP
  • TFIID

Genomic Locations for CHURC1 Gene

Genomic Locations for CHURC1 Gene
chr14:64,914,361-64,944,591
(GRCh38/hg38)
Size:
30,231 bases
Orientation:
Plus strand
chr14:65,381,079-65,411,309
(GRCh37/hg19)
Size:
30,231 bases
Orientation:
Plus strand

Genomic View for CHURC1 Gene

Genes around CHURC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHURC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHURC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHURC1 Gene

Proteins for CHURC1 Gene

  • Protein details for CHURC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WUH1-CHUR_HUMAN
    Recommended name:
    Protein Churchill
    Protein Accession:
    Q8WUH1
    Secondary Accessions:
    • B3KQ81
    • G3V1X3
    • G3V214
    • Q9H3K7

    Protein attributes for CHURC1 Gene

    Size:
    139 amino acids
    Molecular mass:
    16111 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAG43128.1; Type=Miscellaneous discrepancy; Note=Frameshift at positions=92 and translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH20550.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAG51943.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CHURC1 Gene

    Alternative splice isoforms for CHURC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHURC1 Gene

Post-translational modifications for CHURC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CHURC1 Gene

Domains & Families for CHURC1 Gene

Gene Families for CHURC1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CHURC1 Gene

Blocks:
  • Churchill
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CHURC1 Gene

GenScript: Design optimal peptide antigens:
  • Protein Churchill (CHUR_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WUH1

UniProtKB/Swiss-Prot:

CHUR_HUMAN :
  • Belongs to the Churchill family.
Family:
  • Belongs to the Churchill family.
genes like me logo Genes that share domains with CHURC1: view

Function for CHURC1 Gene

Molecular function for CHURC1 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional activator that mediates FGF signaling during neural development. Plays a role in the regulation of cell movement (By similarity). Does not bind DNA by itself.

Phenotypes From GWAS Catalog for CHURC1 Gene

Gene Ontology (GO) - Molecular Function for CHURC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008270 zinc ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CHURC1: view
genes like me logo Genes that share phenotypes with CHURC1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHURC1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CHURC1 Gene

Localization for CHURC1 Gene

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 CHURC1 gene
Compartment Confidence
mitochondrion 2
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CHURC1 Gene

Pathways & Interactions for CHURC1 Gene

PathCards logo

SuperPathways for CHURC1 Gene

No Data Available

Interacting Proteins for CHURC1 Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: Q8WUH1-CHUR_HUMAN ENSP00000475473 for CHURC1 Gene via IID STRING

;

Gene Ontology (GO) - Biological Process for CHURC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0045893 positive regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with CHURC1: view

No data available for Pathways by source and SIGNOR curated interactions for CHURC1 Gene

Drugs & Compounds for CHURC1 Gene

(1) Drugs for CHURC1 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Methylphenidate Approved, Investigational Pharma 418
genes like me logo Genes that share compounds with CHURC1: view

Transcripts for CHURC1 Gene

mRNA/cDNA for CHURC1 Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHURC1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHURC1 Gene

No ASD Table

Relevant External Links for CHURC1 Gene

GeneLoc Exon Structure for
CHURC1

Expression for CHURC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CHURC1 Gene

Protein differential expression in normal tissues from HIPED for CHURC1 Gene

This gene is overexpressed in Cervix (33.8) and Peripheral blood mononuclear cells (22.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CHURC1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CHURC1

SOURCE GeneReport for Unigene cluster for CHURC1 Gene:

Hs.731537

Evidence on tissue expression from TISSUES for CHURC1 Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with CHURC1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CHURC1 Gene

Orthologs for CHURC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CHURC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHURC1 31
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHURC1 31 30
  • 93.15 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Churc1 30
  • 92.26 (n)
mouse
(Mus musculus)
Mammalia Churc1 17 31 30
  • 90.48 (n)
dog
(Canis familiaris)
Mammalia CHURC1 31 30
  • 89.69 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHURC1 31
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHURC1 31
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHURC1 31 30
  • 65.18 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHURC1 31
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia churc1 30
  • 69.64 (n)
African clawed frog
(Xenopus laevis)
Amphibia chch-A-prov 30
zebrafish
(Danio rerio)
Actinopterygii churc1 31 30
  • 69.05 (n)
OneToOne
Species where no ortholog for CHURC1 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for CHURC1 Gene

ENSEMBL:
Gene Tree for CHURC1 (if available)
TreeFam:
Gene Tree for CHURC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CHURC1: view image

Paralogs for CHURC1 Gene

(2) SIMAP similar genes for CHURC1 Gene using alignment to 4 proteins:

  • CHUR_HUMAN
  • H0YHA3_HUMAN
  • H0YHB4_HUMAN
  • H0YID9_HUMAN
genes like me logo Genes that share paralogs with CHURC1: view

No data available for Paralogs for CHURC1 Gene

Variants for CHURC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CHURC1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
722157 Likely Benign: not provided 64,924,011(+) T/A MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
782958 Benign: not provided 64,924,121(+) A/G INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CHURC1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CHURC1 Gene

Variant ID Type Subtype PubMed ID
esv2748779 CNV deletion 23290073

Variation tolerance for CHURC1 Gene

Residual Variation Intolerance Score: 43.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.07; 21.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CHURC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHURC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHURC1 Gene

Disorders for CHURC1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CHURC1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spindle cell hemangioma
  • sch
gastrojejunal ulcer
  • acute gastrojejunal ulcer with hemorrhage
hypercholesterolemia, familial, 4
  • fhcl4
hemochromatosis type 2
  • hfe2
familial hypercholesterolemia
  • fh
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CHURC1

genes like me logo Genes that share disorders with CHURC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CHURC1 Gene

Publications for CHURC1 Gene

  1. Embryonic neural inducing factor churchill is not a DNA-binding zinc finger protein: solution structure reveals a solvent-exposed beta-sheet and zinc binuclear cluster. (PMID: 17610897) Lee BM … Wright PE (Journal of molecular biology 2007) 3 4 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 54

Products for CHURC1 Gene

Sources for CHURC1 Gene