Property Summary

NCBI Gene PubMed Count 21
PubMed Score 12.19
PubTator Score 12.51

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (15)

Disease log2 FC p
astrocytic glioma -2.200 1.9e-03
psoriasis -1.600 2.8e-04
oligodendroglioma -1.600 4.3e-11
glioblastoma -2.000 2.2e-04
acute quadriplegic myopathy 1.678 2.5e-06
pancreatic ductal adenocarcinoma liver m... -1.408 9.9e-03
colon cancer -1.100 3.8e-02
pancreatic cancer -1.100 1.9e-04
pediatric high grade glioma -1.600 7.8e-05
Breast cancer -2.100 1.4e-13
lung carcinoma 1.900 5.5e-23
Pick disease -1.400 9.2e-05
ductal carcinoma in situ -1.200 5.6e-04
invasive ductal carcinoma -1.500 6.1e-03
ovarian cancer -2.800 1.1e-13

Gene RIF (14)

PMID Text
25125465 This report represents the first extensive expression and functional study of ABCA5 in the human brain and our data suggest a plausible function of ABCA5 in the brain as a cholesterol transporter associated with Abeta generation
24831815 our findings support ABCA5 as a gene underlying the congenital generalized hypertrichosis terminalis phenotype and suggest a novel, previously unrecognized role for this gene in regulating hair growth.
23939407 The expression of ABCA5 was significantly elevated in parkinson disease brains compared to age- and gender-matched control brains.
22870217 Identification of CBX3 and ABCA5 as putative biomarkers for tumor stem cells in osteosarcoma.
22190034 HIV-1 Vpr is identified to have a physical interaction with ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses
20487690 The ABCB5 gene may be related to the properties of chemoresistance and aggressiveness of melanoma
19692168 Observational study of gene-disease association. (HuGE Navigator)
19625176 Observational study of gene-disease association. (HuGE Navigator)
19343046 Observational study of gene-disease association. (HuGE Navigator)
19170196 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
18676680 Observational study of gene-disease association. (HuGE Navigator)
17541169 There is a correlation of induction of ABCA5 and mRNA with differentiation of colonic neoplasms.
17289887 ABCA5 may have a role in prostatic intraepithelial neoplasia
12504089 Cloning of ABCA5 and detection of a splice variant.

AA Sequence

MSTAIREVGVWRQTRTLLLKNYLIKCRTKKSSVQEILFPLFFLFWLILISMMHPNKKYEEVPNIELNPMD      1 - 70
KFTLSNLILGYTPVTNITSSIMQKVSTDHLPDVIITEEYTNEKEMLTSSLSKPSNFVGVVFKDSMSYELR     71 - 140
FFPDMIPVSSIYMDSRAGCSKSCEAAQYWSSGFTVLQASIDAAIIQLKTNVSLWKELESTKAVIMGETAV    141 - 210
VEIDTFPRGVILIYLVIAFSPFGYFLAIHIVAEKEKKIKEFLKIMGLHDTAFWLSWVLLYTSLIFLMSLL    211 - 280
MAVIATASLLFPQSSSIVIFLLFFLYGLSSVFFALMLTPLFKKSKHVGIVEFFVTVAFGFIGLMIILIES    281 - 350
FPKSLVWLFSPFCHCTFVIGIAQVMHLEDFNEGASFSNLTAGPYPLIITIIMLTLNSIFYVLLAVYLDQV    351 - 420
IPGEFGLRRSSLYFLKPSYWSKSKRNYEELSEGNVNGNISFSEIIEPVSSEFVGKEAIRISGIQKTYRKK    421 - 490
GENVEALRNLSFDIYEGQITALLGHSGTGKSTLMNILCGLCPPSDGFASIYGHRVSEIDEMFEARKMIGI    491 - 560
CPQLDIHFDVLTVEENLSILASIKGIPANNIIQEVQKVLLDLDMQTIKDNQAKKLSGGQKRKLSLGIAVL    561 - 630
GNPKILLLDEPTAGMDPCSRHIVWNLLKYRKANRVTVFSTHFMDEADILADRKAVISQGMLKCVGSSMFL    631 - 700
KSKWGIGYRLSMYIDKYCATESLSSLVKQHIPGATLLQQNDQQLVYSLPFKDMDKFSGLFSALDSHSNLG    701 - 770
VISYGVSMTTLEDVFLKLEVEAEIDQADYSVFTQQPLEEEMDSKSFDEMEQSLLILSETKAALVSTMSLW    771 - 840
KQQMYTIAKFHFFTLKRESKSVRSVLLLLLIFFTVQIFMFLVHHSFKNAVVPIKLVPDLYFLKPGDKPHK    841 - 910
YKTSLLLQNSADSDISDLISFFTSQNIMVTMINDSDYVSVAPHSAALNVMHSEKDYVFAAVFNSTMVYSL    911 - 980
PILVNIISNYYLYHLNVTETIQIWSTPFFQEITDIVFKIELYFQAALLGIIVTAMPPYFAMENAENHKIK    981 - 1050
AYTQLKLSGLLPSAYWIGQAVVDIPLFFIILILMLGSLLAFHYGLYFYTVKFLAVVFCLIGYVPSVILFT   1051 - 1120
YIASFTFKKILNTKEFWSFIYSVAALACIAITEITFFMGYTIATILHYAFCIIIPIYPLLGCLISFIKIS   1121 - 1190
WKNVRKNVDTYNPWDRLSVAVISPYLQCVLWIFLLQYYEKKYGGRSIRKDPFFRNLSTKSKNRKLPEPPD   1191 - 1260
NEDEDEDVKAERLKVKELMGCQCCEEKPSIMVSNLHKEYDDKKDFLLSRKVKKVATKYISFCVKKGEILG   1261 - 1330
LLGPNGAGKSTIINILVGDIEPTSGQVFLGDYSSETSEDDDSLKCMGYCPQINPLWPDTTLQEHFEIYGA   1331 - 1400
VKGMSASDMKEVISRITHALDLKEHLQKTVKKLPAGIKRKLCFALSMLGNPQITLLDEPSTGMDPKAKQH   1401 - 1470
MWRAIRTAFKNRKRAAILTTHYMEEAEAVCDRVAIMVSGQLRCIGTVQHLKSKFGKGYFLEIKLKDWIEN   1471 - 1540
LEVDRLQREIQYIFPNASRQESFSSILAYKIPKEDVQSLSQSFFKLEEAKHAFAIEEYSFSQATLEQVFV   1541 - 1610
ELTKEQEEEDNSCGTLNSTLWWERTQEDRVVF                                         1611 - 1642
//

Text Mined References (21)

PMID Year Title
25125465 2015 ABCA5 regulates amyloid-? peptide production and is associated with Alzheimer's disease neuropathology.
24831815 2014 Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.
23939407 2012 Changes in sphingomyelin level affect alpha-synuclein and ABCA5 expression.
22870217 2012 Identification of CBX3 and ABCA5 as putative biomarkers for tumor stem cells in osteosarcoma.
20487690 2010 ATP-binding cassette transporter ABCB5 gene is expressed with variability in malignant melanoma.
20382126 2010 Macrophage ABCA5 deficiency influences cellular cholesterol efflux and increases susceptibility to atherosclerosis in female LDLr knockout mice.
19692168 2010 Genetic susceptibility to distinct bladder cancer subphenotypes.
19625176 2009 PTEN identified as important risk factor of chronic obstructive pulmonary disease.
19343046 2009 Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
19170196 2009 Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
18676680 2008 Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.
17541169 2007 Correlation of induction of ATP binding cassette transporter A5 (ABCA5) and ABCB1 mRNAs with differentiation state of human colon tumor.
17289887 2007 The ABCA5 protein: a urine diagnostic marker for prostatic intraepithelial neoplasia.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15870284 2005 ABCA5 resides in lysosomes, and ABCA5 knockout mice develop lysosomal disease-like symptoms.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12504089 2003 Cloning of human and rat ABCA5/Abca5 and detection of a human splice variant.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11572484 2001 Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins.
11435397 2001 The human ATP-binding cassette (ABC) transporter superfamily.
8894702 1996 Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database.