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CHURC1 churchill domain containing 1 [ Homo sapiens (human) ]

Gene ID: 91612, updated on 2-Nov-2024

Summary

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Official Symbol
CHURC1provided by HGNC
Official Full Name
churchill domain containing 1provided by HGNC
Primary source
HGNC:HGNC:20099
See related
Ensembl:ENSG00000258289 MIM:608577; AllianceGenome:HGNC:20099
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
chch; My015; C14orf52
Summary
Predicted to enable zinc ion binding activity. Predicted to be involved in fibroblast growth factor receptor signaling pathway. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in fat (RPKM 18.1), brain (RPKM 17.2) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See CHURC1 in Genome Data Viewer
Location:
14q23.3
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (64914455..64935368)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (59119323..59140237)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (65381173..65402086)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370534 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8537 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8538 Neighboring gene CHURC1-FNTB readthrough Neighboring gene ribonuclease P RNA component H1, 2 pseudogene Neighboring gene MPRA-validated peak2167 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8539 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65421611-65422488 Neighboring gene glutathione peroxidase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65426829-65427347 Neighboring gene RAB15, member RAS oncogene family Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5845

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 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. 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. Lee BM, et al. J Mol Biol, 2007 Aug 31. PMID 17610897, Free PMC Article
  2. A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis. Griswold AJ, et al. Autism Res, 2011 Jun. PMID 21360829, Free PMC Article
  3. Churchill, a zinc finger transcriptional activator, regulates the transition between gastrulation and neurulation. Sheng G, et al. Cell, 2003 Nov 26. PMID 14651851
  4. An atlas of combinatorial transcriptional regulation in mouse and man. Ravasi T, et al. Cell, 2010 Mar 5. PMID 20211142, Free PMC Article
  5. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. Suzuki Y, et al. Genome Res, 2004 Sep. PMID 15342556, Free PMC Article

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. This is the first implication of chr14q23.2-23.3 in the etiology of autism and points to MTHFD1, PLEKHG3, and CHURC1 as potential candidate genes contributing to autism risk.
    Title: A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis.
  2. 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
    Title: 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.
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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Readthrough CHURC1-FNTB

Readthrough gene: CHURC1-FNTB, Included gene: FNTB

Homology

Clone Names

  • FLJ33064, FLJ51978, FLJ78804

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in fibroblast growth factor receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
protein Churchill

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_001204064.2 → NP_001190993.2  protein Churchill isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an exon in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
    Source sequence(s)
    AL135745, AL139022
    Consensus CDS
    CCDS55922.2
    Related
    ENSP00000450165.3, ENST00000548752.7
    Conserved Domains (1) summary
    pfam06573
    Location:1 → 60
    Churchill; Churchill protein

  2. NM_001386928.1 → NP_001373857.1  protein Churchill isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL135745, AL139022
    Consensus CDS
    CCDS55921.2
    UniProtKB/Swiss-Prot
    A0A0C4DGJ7, B3KQ81, G3V1X3, G3V214, Q8WUH1, Q9H3K7
    Related
    ENSP00000448050.2, ENST00000549115.7
    Conserved Domains (1) summary
    pfam06573
    Location:1 → 111
    Churchill; Churchill protein

  3. NM_145165.4 → NP_660148.4  protein Churchill isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL135745, AL139022
    Consensus CDS
    CCDS32101.3
    Related
    ENSP00000475473.2, ENST00000607599.6
    Conserved Domains (1) summary
    pfam06573
    Location:1 → 112
    Churchill; Churchill protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    64914455..64935368
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    59119323..59140237
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001204063.2: Suppressed sequence

    Description
    NM_001204063.2: This RefSeq was removed because currently there is support for the transcript but not for the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WUH1.3 GenPept UniProtKB/Swiss-Prot:Q8WUH1

Gene LinkOut

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

Chemical Information
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