vacuolar protein sorting 4 homolog A

Summary
Gene Symbol
  • VPS4A
Aliases
  • FLJ22197
  • SKD1
  • SKD1A
  • SKD2
  • VPS4
  • VPS4-1
Organism
Homo sapiens (human)
NCBI Gene
27183
HGNC
13488
PubChem
27183
Alliance of Genome Resources
JoGo
VPS4A
TogoVar
VPS4A
Annotation
Keyword
  • 3D-structure
  • ATP-binding
  • Acetylation
  • Cataract
  • Cell division
  • Congenital dyserythropoietic anemia
  • Cytoskeleton
  • Disease variant
  • Endosome
  • Hydrolase
  • Intellectual disability
  • Membrane
  • Phosphoprotein
  • Protein transport
  • Proteomics identification
  • Reference proteome
Proteins
Displaying 1 entry
UniProt Protein Name
Q9UN37
  • Protein SKD2
  • VPS4-1
Gene Ontology (GO)
GO Hierarchy
Displaying entries 1 - 5 of 23 in total
GO Term Evidence Code PMID
spindle pole
nucleus
nuclear pore
cytoplasm
lysosome
GO Hierarchy
GO Hierarchy
Disease
The Human Phenotype Ontology
Displaying entries 1 - 10 of 32 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000135 Hypogonadism
HP:0000252 Microcephaly
HP:0000407 Sensorineural hearing impairment
HP:0000505 Visual impairment
HP:0000519 Developmental cataract
HP:0000556 Retinal dystrophy
HP:0000750 Delayed speech and language development
HP:0001081 Cholelithiasis
HP:0001250 Seizure
Displaying 1 entry
Disease ID Disease Name
OMIM:619273
  • cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome

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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: April 6, 2026