kinetochore scaffold 1

Summary
Gene Symbol
  • KNL1
Organism
Homo sapiens (human)
NCBI Gene
57082
PubChem
57082
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Centromere
  • Chromosomal rearrangement
  • Chromosome
  • Chromosome partition
  • Coiled coil
  • Disease variant
  • Intellectual disability
  • Kinetochore
  • Mitosis
  • Nucleus
  • Phosphoprotein
  • Primary microcephaly
  • Reference proteome
  • Repeat
Proteins
Displaying 1 entry
UniProt Protein Name
Q8NG31
  • ALL1-fused gene from chromosome 15q14 protein
  • Bub-linking kinetochore protein
  • Cancer susceptibility candidate gene 5 protein
  • Cancer/testis antigen 29
  • Kinetochore-null protein 1
  • Protein CASC5
  • Protein D40/AF15q14
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Kinetochore scaffold 1
Functional Category
  • G: Carbohydrate transport and metabolism
  • K: Transcription
  • T: Signal transduction mechanisms
Displaying all 2 entries
Gene Ontology
cell division
protein localization to kinetochore
Displaying all 2 entries
InterPro
Kinetochore scaffold 1
Knl1, C-terminal RWD domain
Disease
Disease Ontology
Displaying all 4 entries
DO ID Disease Name Source
DOID:0070291 primary autosomal recessive microcephaly 4
DOID:0070296 primary autosomal recessive microcephaly
DOID:0070297 primary microcephaly
DOID:1115 sarcoma

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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