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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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    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)

    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.

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