AP4S1 (adaptor related protein complex 4 subunit sigma 1)

2014-11-01  

Identity

HGNC
LOCATION
14q12
LOCUSID
ALIAS
AP47B,CLA20,CLAPS4,CPSQ6,SPG52
FUSION GENES

Other Information

Locus ID:

NCBI: 11154
MIM: 607243
HGNC: 575
Ensembl: ENSG00000100478

Variants:

dbSNP: 11154
ClinVar: 11154
TCGA: ENSG00000100478
COSMIC: AP4S1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100478ENST00000216366Q9Y587
ENSG00000100478ENST00000313566Q9Y587
ENSG00000100478ENST00000334725Q9Y587
ENSG00000100478ENST00000542754Q9Y587
ENSG00000100478ENST00000554345Q9Y587
ENSG00000100478ENST00000554609G3V5J6
ENSG00000100478ENST00000555417A0A0G2JL90
ENSG00000100478ENST00000556232G3V4P7
ENSG00000100478ENST00000557346G3V3X7
ENSG00000100478ENST00000616371Q9Y587
ENSG00000100478ENST00000622409Q9Y587

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9

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
Lysosome Vesicle BiogenesisREACTOMER-HSA-432720

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
255526502015Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.18
274447382016Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families.3

Citation

Dessen P

AP4S1 (adaptor related protein complex 4 subunit sigma 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60411/ap4s1