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  5. ATP-binding cassette sub-family A member 8

Tbio ATP-binding cassette sub-family A member 8

ATP-dependent lipophilic drug transporter.

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

 Comments

Property Summary

NCBI Gene PubMed Count 18
PubMed Score 6.34
PubTator Score 11.54

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count
Colorectal Neoplasms 217
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Multiple system atrophy 27 3.018 1.5

Expression

  Differential Expression (37)

Disease log2 FC p
malignant mesothelioma -4.100 4.3e-09
psoriasis -2.100 7.4e-06
oligodendroglioma -1.100 3.7e-03
non diabetic and post-ischemic heart fai... 1.100 3.8e-02
atypical teratoid/rhabdoid tumor -3.100 5.5e-07
medulloblastoma, large-cell -3.000 1.4e-03
Crohn's disease -1.595 3.1e-02
ulcerative colitis -1.561 1.9e-02
Duchenne muscular dystrophy 1.799 1.2e-05
autosomal dominant Emery-Dreifuss muscul... 1.774 1.0e-02
juvenile dermatomyositis 1.001 2.5e-04
Amyotrophic Lateral Sclerosis 1.282 7.9e-04
Atopic dermatitis -2.400 7.1e-04
adrenocortical carcinoma -2.353 1.3e-02
non-small cell lung cancer -4.251 8.0e-36
intraductal papillary-mucinous adenoma (... -3.600 4.1e-04
intraductal papillary-mucinous carcinoma... -4.300 2.9e-04
intraductal papillary-mucinous neoplasm ... -4.900 2.7e-04
colon cancer -3.900 2.6e-07
lung cancer -3.600 1.8e-06
pancreatic cancer -1.300 6.9e-03
breast carcinoma -2.900 2.6e-31
fibroadenoma -1.600 2.3e-02
interstitial cystitis -1.200 1.5e-02
lung adenocarcinoma -2.876 1.1e-11
group 4 medulloblastoma -2.800 7.3e-04
posterior fossa group A ependymoma 1.400 5.5e-04
invasive ductal carcinoma -5.300 1.4e-04
lung carcinoma -2.600 7.1e-19
progressive supranuclear palsy -1.900 1.2e-02
Breast cancer -1.800 6.7e-11
ductal carcinoma in situ -2.900 4.2e-05
ovarian cancer -7.800 7.5e-33
pituitary cancer -4.900 2.6e-10
Down syndrome 1.500 2.8e-03
dermatomyositis 1.100 3.9e-02
facioscapulohumeral dystrophy -1.500 4.7e-02

Synonym

Accession O94911 A1L3U3 C9JQE6 Q86WW0
Symbols

Gene

ABCA8

PANTHER Protein Class (2)

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 UniProt Keyword (13)

See all...

 GO Function (3)

 GO Component (3)

 GO Process (3)

 Compartment GO Term (30)

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 GWAS Trait (1)

 HCA RNA Cell Line (33)

See all...

 CSPA Cell Line (7)

Pathway (5)

Gene RIF (5)

PMID Text
23948991 These data suggest a direct relationship between the levels of ABCA8 and the ectopic expression of alpha-syn and increased expression of p25alpha
23560799 ABCA8 is highly expressed in human brain and regulates lipid metabolism in oligodendrocytes, potentially playing a role in myelin formation and maintenance.
21707071 SLC2A1/GLUT1, SLC1A3/EAAT1, and SLC1A2/EAAT2 were the main SLC proteins whereas ABCG2/BCRP, ABCB1/MDR1, ABCA2 and ABCA8 were the main ABC quantified in isolated brain microvessels
19343046 Observational study of gene-disease association. (HuGE Navigator)
12379217 Functional analysis of the transport properties of ABCA8.

AA Sequence 

MRKRKISVCQQTWALLCKNFLKKWRMKRESLMEWLNSLLLLLCLYIYPHSHQVNDFSSLLTMDLGRVDTF      1 - 70
NESRFSVVYTPVTNTTQQIMNKVASTPFLAGKEVLGLPDEESIKEFTANYPEEIVRVTFTNTYSYHLKFL     71 - 140
LGHGMPAKKEHKDHTAHCYETNEDVYCEVSVFWKEGFVALQAAINAAIIEITTNHSVMEELMSVTGKNMK    141 - 210
MHSFIGQSGVITDLYLFSCIISFSSFIYYASVNVTRERKRMKALMTMMGLRDSAFWLSWGLLYAGFIFIM    211 - 280
ALFLALVIRSTQFIILSGFMVVFSLFLLYGLSLVALAFLMSILVKKSFLTGLVVFLLTVFWGCLGFTSLY    281 - 350
RHLPASLEWILSLLSPFAFMLGMAQLLHLDYDLNSNAFPHPSDGSNLIVATNFMLAFDTCLYLALAIYFE    351 - 420
KILPNEYGHRRPPLFFLKSSFWSQTQKTDHVALEDEMDADPSFHDSFEQAPPEFQGKEAIRIRNVTKEYK    421 - 490
GKPDKIEALKDLVFDIYEGQITAILGHSGAGKSTLLNILSGLSVPTKGSVTIYNNKLSEMADLENLSKLT    491 - 560
GVCPQSNVQFDFLTVRENLRLFAKIKGILPQEVDKEIFLLDEPTAGLDPFSRHQVWNLLKERKTDRVILF    561 - 630
STQFMDEADILADRKVFLSQGKLKCAGSSLFLKKKWGIGYHLSLQLNEICVEENITSLVKQHIPDAKLSA    631 - 700
KSEGKLIYTLPLERTNKFPELYKDLDSYPDLGIENYGVSMTTLNEVFLKLEGKSTINESDIAILGEVQAE    701 - 770
KADDTERLVEMEQVLSSLNKMRKTIGGVALWRQQICAIARVRLLKLKHERKALLALLLILMAGFCPLLVE    771 - 840
YTMVKIYQNSYTWELSPHLYFLAPGQQPHDPLTQLLIINKTGASIDDFIQSVEHQNIALEVDAFGTRNGT    841 - 910
DDPSYNGAITVCCNEKNYSFSLACNAKRLNCFPVLMDIVSNGLLGMVKPSVHIRTERSTFLENGQDNPIG    911 - 980
FLAYIMFWLVLTSSCPPYIAMSSIDDYKNRARSQLRISGLSPSAYWFGQALVDVSLYFLVFVFIYLMSYI    981 - 1050
SNFEDMLLTIIHIIQIPCAVGYSFSLIFMTYVISFIFRKGRKNSGIWSFCFYVVTVFSVAGFAFSIFESD   1051 - 1120
IPFIFTFLIPPATMIGCLFLSSHLLFSSLFSEERMDVQPFLVFLIPFLHFIIFLFTLRCLEWKFGKKSMR   1121 - 1190
KDPFFRISPRSSDVCQNPEEPEGEDEDVQMERVRTANALNSTNFDEKPVIIASCLRKEYAGKRKGCFSKR   1191 - 1260
KNKIATRNVSFCVRKGEVLGLLGHNGAGKSTSIKVITGDTKPTAGQVLLKGSGGGDALEFLGYCPQENAL   1261 - 1330
WPNLTVRQHLEVYAAVKGLRKGDAEVAITRLVDALKLQDQLKSPVKTLSEGIKRKLCFVLSILGNPSVVL   1331 - 1400
LDEPSTGMDPEGQQQMWQAIRATFRNTERGALLTTHYMAEAEAVCDRVAIMVSGRLRCIGSIQHLKSKFG   1401 - 1470
KDYLLEMKVKNLAQVEPLHAEILRLFPQAARQERYSSLMVYKLPVEDVQPLAQAFFKLEKVKQSFDLEEY   1471 - 1540
SLSQSTLEQVFLELSKEQELGDFEEDFDPSVKWKLLPQEEP                                1541 - 1581
//

Text Mined References (21)

PMID Year Title
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24219920 2013 ABC transporter activity linked to radiation resistance and molecular subtype in pediatric medulloblastoma.
24097068 2013 Discovery and refinement of loci associated with lipid levels.
23948991 2013 Increased expression of ABCA8 in multiple system atrophy brain is associated with changes in pathogenic proteins.
23560799 2013 ABCA8 stimulates sphingomyelin production in oligodendrocytes.
21707071 2011 Transcriptomic and quantitative proteomic analysis of transporters and drug metabolizing enzymes in freshly isolated human brain microvessels.
20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
19922823 2010 Eight genes are highly associated with BMD variation in postmenopausal Caucasian women.
19343046 2009 Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
17973979 2008 Role of ATP-binding cassette transporters in brain lipid transport and neurological disease.
16738483 2006 Quantitation of ATP-binding cassette subfamily-A transporter gene expression in primary human brain cells.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12379217 2002 Functional analysis of ABCA8, a new drug transporter.
12111378 2002 Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8.
11329013 2001 Creation of genome-wide protein expression libraries using random activation of gene expression.
10048485 1998 Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.