ABCA5 (ATP binding cassette subfamily A member 5)

2007-07-01  

Identity

HGNC
ABCA5
LOCATION
17q24.3
LOCUSID
23461
ALIAS
ABC13,EST90625,HTC3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23461
MIM: 612503
HGNC: 35
Ensembl: ENSG00000154265

Variants:

dbSNP: 23461
ClinVar: 23461
TCGA: ENSG00000154265
COSMIC: ABCA5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000154265ENST00000392676Q8WWZ7
ENSG00000154265ENST00000586811K7EJW6
ENSG00000154265ENST00000586995Q6N017
ENSG00000154265ENST00000587607A0A075B778
ENSG00000154265ENST00000588665K7EQ50
ENSG00000154265ENST00000588877Q8WWZ7
ENSG00000154265ENST00000589975K7ENF9
ENSG00000154265ENST00000591234K7EKS9
ENSG00000154265ENST00000592568K7EMV2
ENSG00000154265ENST00000593153K7EPM3
ENSG00000154265ENST00000593253A0A075B778

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
ABC transportersKEGGko02010
ABC transportersKEGGhsa02010
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556
ABC transporters in lipid homeostasisREACTOMER-HSA-1369062

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
373486442023Cholesterol homeostasis in hair follicle keratinocytes is disrupted by impaired ABCA5 activity.0
373486442023Cholesterol homeostasis in hair follicle keratinocytes is disrupted by impaired ABCA5 activity.0
351500072022Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis.1
351500072022Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis.1
334047062021Localisation and regulation of cholesterol transporters in the human hair follicle: mapping changes across the hair cycle.5
334047062021Localisation and regulation of cholesterol transporters in the human hair follicle: mapping changes across the hair cycle.5
326878532020Novel Mechanism of Cholesterol Transport by ABCA5 in Macrophages and Its Role in Dyslipidemia.9
326878532020Novel Mechanism of Cholesterol Transport by ABCA5 in Macrophages and Its Role in Dyslipidemia.9
251254652015ABCA5 regulates amyloid-β peptide production and is associated with Alzheimer's disease neuropathology.19
251254652015ABCA5 regulates amyloid-β peptide production and is associated with Alzheimer's disease neuropathology.19
248318152014Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.18
248318152014Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.18
228702172012Identification of CBX3 and ABCA5 as putative biomarkers for tumor stem cells in osteosarcoma.41
239394072012Changes in sphingomyelin level affect alpha-synuclein and ABCA5 expression.14
228702172012Identification of CBX3 and ABCA5 as putative biomarkers for tumor stem cells in osteosarcoma.41

Citation

Dessen P

ABCA5 (ATP binding cassette subfamily A member 5)

Atlas Genet Cytogenet Oncol Haematol. 2007-07-01

Online version: http://atlasgeneticsoncology.org/gene/47579/img/meetings/hgnc