AP4B1 (adaptor related protein complex 4 subunit beta 1)

2014-11-01  

Identity

HGNC
AP4B1
LOCATION
1p13.2
LOCUSID
10717
ALIAS
BETA-4,CPSQ5,SPG47
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
361226742022AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range.1
361226742022AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range.1
321667322020AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant.1
321667322020AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant.1
303376812019Locus and allelic heterogeneity in five families with hereditary spastic paraplegia.3
303376812019Locus and allelic heterogeneity in five families with hereditary spastic paraplegia.3
291936632018Clinical and genetic characterization of AP4B1-associated SPG47.29
294308682018A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.7
291936632018Clinical and genetic characterization of AP4B1-associated SPG47.29
294308682018A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.7
247817582015An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.29
247817582015An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.29
222901972012Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .26
222901972012Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .26

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