coiled-coil and C2 domain containing 1A

Summary
Gene Symbol
  • CC2D1A
Organism
Homo sapiens (human)
NCBI Gene
54862
PubChem
54862
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Coiled coil
  • Cytoskeleton
  • DNA-binding
  • Intellectual disability
  • Nucleus
  • Phosphoprotein
  • Reference proteome
  • Repressor
  • Transcription regulation
Proteins
Displaying 1 entry
UniProt Protein Name
Q6P1N0
  • Akt kinase-interacting protein 1
  • Five prime repressor element under dual repression-binding protein 1
  • Putative NF-kappa-B-activating protein 023N
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
C2 domain-containing protein
Functional Category
  • K: Transcription
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 4 entries
DO ID Disease Name Source
DOID:0050545 visceral heterotaxy
DOID:0060340 ciliopathy
DOID:0081179 autosomal recessive intellectual developmental disorder 3
DOID:1059 intellectual disability

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024