AP4M1 (adaptor related protein complex 4 subunit mu 1)

2014-11-01  

Identity

HGNC
AP4M1
LOCATION
7q22.1
LOCUSID
9179
ALIAS
CPSQ3,MU-4,MU-ARP2,SPG50
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9179
MIM: 602296
HGNC: 574
Ensembl: ENSG00000221838

Variants:

dbSNP: 9179
ClinVar: 9179
TCGA: ENSG00000221838
COSMIC: AP4M1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000221838ENST00000359593O00189
ENSG00000221838ENST00000394061F8WDR3
ENSG00000221838ENST00000416938H0Y6K1
ENSG00000221838ENST00000421755O00189
ENSG00000221838ENST00000422582C9IZL5
ENSG00000221838ENST00000429084C9JC87
ENSG00000221838ENST00000438383C9JWL4
ENSG00000221838ENST00000439416C9JMG3
ENSG00000221838ENST00000445208F8WCC5
ENSG00000221838ENST00000445295H7C0A0
ENSG00000221838ENST00000446007F8WCR6
ENSG00000221838ENST00000450807H7BZV3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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
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
118021622002AP-4 binds basolateral signals and participates in basolateral sorting in epithelial MDCK cells.66
183419932008Accumulation of AMPA receptors in autophagosomes in neuronal axons lacking adaptor protein AP-4.57
195593972009Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.49
254962992014A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency.8
295352042018Interactions between the Hepatitis C Virus Nonstructural 2 Protein and Host Adaptor Proteins 1 and 4 Orchestrate Virus Release.6
303376812019Locus and allelic heterogeneity in five families with hereditary spastic paraplegia.1

Citation

Dessen P

AP4M1 (adaptor related protein complex 4 subunit mu 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60410/ap4m1