AP5Z1 (adaptor related protein complex 5 subunit zeta 1)

2007-04-01  

Identity

HGNC
AP5Z1
LOCATION
7p22.1
LOCUSID
9907
ALIAS
KIAA0415,SPG48,zeta
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9907
MIM: 613653
HGNC: 22197
Ensembl: ENSG00000242802

Variants:

dbSNP: 9907
ClinVar: 9907
TCGA: ENSG00000242802
COSMIC: AP5Z1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000242802ENST00000647984A0A3B3ITJ1
ENSG00000242802ENST00000648237A0A3B3ISN8
ENSG00000242802ENST00000648360A0A3B3IU94
ENSG00000242802ENST00000648925O43299
ENSG00000242802ENST00000649063O43299
ENSG00000242802ENST00000649315A0A3B3IRY4
ENSG00000242802ENST00000650310A0A3B3ISJ0
ENSG00000242802ENST00000650451A0A3B3IRY2
ENSG00000242802ENST00000650581A0A3B3IS81

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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

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
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
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
297269292018Impaired mitochondrial dynamics underlie axonal defects in hereditary spastic paraplegias.26
297269292018Impaired mitochondrial dynamics underlie axonal defects in hereditary spastic paraplegias.26

Citation

Dessen P

AP5Z1 (adaptor related protein complex 5 subunit zeta 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47383/ap5z1