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

    Gene ID: 91612, updated on 22-Apr-2017
    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; Vega:OTTHUMG00000170218
    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
    Orthologs
    Location:
    14q23.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 14 NC_000014.9 (64914361..64935368)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (65381079..65410635)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370534 Neighboring gene CHURC1-FNTB readthrough Neighboring gene ribonuclease P RNA component H1, 2 pseudogene Neighboring gene glutathione peroxidase 2 Neighboring gene RAB15, member RAS oncogene family

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    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
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     

    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_001204063.1NP_001190992.1  protein Churchill isoform 2

      See identical proteins and their annotated locations for NP_001190992.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AK057626, AL139022, AV734503, BC010517
      Consensus CDS
      CCDS55921.1
      UniProtKB/Swiss-Prot
      Q8WUH1
      UniProtKB/TrEMBL
      A0A024R6B7
      Related
      ENSP00000448050.1, OTTHUMP00000243291, ENST00000549115.5, OTTHUMT00000408062
      Conserved Domains (1) summary
      pfam06573
      Location:28138
      Churchill; Churchill protein
    2. NM_001204064.1NP_001190993.1  protein Churchill isoform 3

      See identical proteins and their annotated locations for NP_001190993.1

      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, AV734503, BC010517, BP305870
      Consensus CDS
      CCDS55922.1
      UniProtKB/Swiss-Prot
      Q8WUH1
      Related
      ENSP00000450165.2, OTTHUMP00000243293, ENST00000548752.6, OTTHUMT00000408064
      Conserved Domains (1) summary
      pfam06573
      Location:2887
      Churchill; Churchill protein
    3. NM_145165.3NP_660148.3  protein Churchill isoform 1

      See identical proteins and their annotated locations for NP_660148.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF060510, AL139022, AV734503, BC010517
      Consensus CDS
      CCDS32101.2
      UniProtKB/Swiss-Prot
      Q8WUH1
      Related
      ENSP00000475473.1, OTTHUMP00000243290, ENST00000607599.5, OTTHUMT00000408061
      Conserved Domains (1) summary
      pfam06573
      Location:28139
      Churchill; Churchill protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p7 Primary Assembly

      Range
      64914361..64935368
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      65319246..65340255
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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