AP4B1 (adaptor related protein complex 4 subunit beta 1)

2014-11-01  

Identity

HGNC
LOCATION
1p13.2
LOCUSID
ALIAS
BETA-4,CPSQ5,SPG47
FUSION GENES

Other Information

Locus ID:

NCBI: 10717
MIM: 607245
HGNC: 572
Ensembl: ENSG00000134262

Variants:

dbSNP: 10717
ClinVar: 10717
TCGA: ENSG00000134262
COSMIC: AP4B1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134262ENST00000256658Q9Y6B7
ENSG00000134262ENST00000256658A0A024R0D2
ENSG00000134262ENST00000369564B1ALD1
ENSG00000134262ENST00000369567B1ALD0
ENSG00000134262ENST00000369569Q9Y6B7
ENSG00000134262ENST00000369569A0A024R0D2
ENSG00000134262ENST00000369571B1ALD2
ENSG00000134262ENST00000432415B1ALD3

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
trans-Golgi Network Vesicle BuddingREACTOMER-HSA-199992
Clathrin derived vesicle buddingREACTOMER-HSA-421837
Golgi Associated Vesicle BiogenesisREACTOMER-HSA-432722
Lysosome Vesicle BiogenesisREACTOMER-HSA-432720

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
222901972012Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .19
247817582015An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.17
291936632018Clinical and genetic characterization of AP4B1-associated SPG47.10
294308682018A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.3
303376812019Locus and allelic heterogeneity in five families with hereditary spastic paraplegia.1

Citation

Dessen P

AP4B1 (adaptor related protein complex 4 subunit beta 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60407/ap4b1-(adaptor-related-protein-complex-4-subunit-beta-1)