Gene

ERC1

Species
Homo sapiens
Symbol
ERC1
Name
ELKS/RAB6-interacting/CAST family member 1
Synonyms
  • Cast2
  • ELKS
Biotype
protein coding gene
Automated Description
Enables cadherin binding activity. Involved in I-kappaB phosphorylation and positive regulation of NF-kappaB transcription factor activity. Located in centrosome; ciliary basal body; and cytoplasm. Part of IkappaB kinase complex.
RGD Description
The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR18861
No data available
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    Gene
    Association
    Disease Qualifier
    Disease
    Evidence
    Source
    Based On
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      Alleles and Variants

      Allele/Variant Symbol
      Allele Synonyms
      Category
      Variant
      Variant type
      Molecular consequence
      Has Disease Annotations
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        Transgenic Alleles

        Species
        (carrying the transgene)
        Allele symbol
        Transgenic construct
        Expressed components
        Knock-down targets
        Regulatory regions
        Has Disease Annotations
        Has Phenotype Annotations
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          Models

          Model name
          Experimental condition
          Associated Human Diseases
          Associated Phenotypes
          Modifier
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            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCh38
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            1.00M1.05M1.10M1.15M1.20M1.25M1.30M1.35M1.40M1.45M

            Sequence Details

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            Expression

            Primary Sources
            None
            Other Sources
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            ERC1 molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
            Detection methods
            Source
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              Genetic Interactions

              ERC1 role
              ERC1 genetic perturbation
              Interactor gene
              Interactor species
              Interactor role
              Interactor genetic perturbation
              Interaction type
              Phenotype or trait
              Source
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