ABCA5 (ATP binding cassette subfamily A member 5)

2007-07-01  

Identity

HGNC
LOCATION
17q24.3
LOCUSID
ALIAS
ABC13,EST90625,HTC3
FUSION GENES

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

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

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/favicon/welcome