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Human Gene ABCA8 (ENST00000586539.6) from GENCODE V50
  Description: ATP binding cassette subfamily A member 8, transcript variant 1 (from RefSeq NM_001288985.2)
Gencode Transcript: ENST00000586539.6
Gencode Gene: ENSG00000141338.17
Transcript (Including UTRs)
   Position: hg38 chr17:68,867,289-68,955,392 Size: 88,104 Total Exon Count: 40 Strand: -
Coding Region
   Position: hg38 chr17:68,868,085-68,942,034 Size: 73,950 Coding Exon Count: 38 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2026-07-12 09:30:09

-  Comments and Description Text from UniProtKB
  ID: ABCA8_HUMAN
DESCRIPTION: RecName: Full=ATP-binding cassette sub-family A member 8;
FUNCTION: ATP-dependent lipophilic drug transporter.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=30.4 uM for estradiol-beta-glucuronide; KM=0.1 uM for LTC4; KM=10.3 uM for taurochlorate; KM=5.0 uM for PAH; KM=0.5 uM for estrone sulfate; KM=0.4 uM for ochratoxin A;
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein (Probable).
TISSUE SPECIFICITY: Widely expressed with higher expression in heart, skeletal muscle and liver.
SIMILARITY: Belongs to the ABC transporter superfamily. ABCA family.
SIMILARITY: Contains 2 ABC transporter domains.
SEQUENCE CAUTION: Sequence=BAA74845.2; Type=Erroneous initiation;
WEB RESOURCE: Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=O94911";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 72.30 RPKM in Nerve - Tibial
Total median expression: 541.54 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -80.90340-0.238 Picture PostScript Text
3' UTR -184.30796-0.232 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003593 - AAA+_ATPase
IPR026082 - ABC_A
IPR003439 - ABC_transporter-like

Pfam Domains:
PF00005 - ABC transporter

ModBase Predicted Comparative 3D Structure on O94911
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005524 ATP binding
GO:0008559 xenobiotic-transporting ATPase activity
GO:0016887 ATPase activity
GO:0042626 ATPase activity, coupled to transmembrane movement of substances

Biological Process:
GO:0006855 drug transmembrane transport
GO:0006869 lipid transport
GO:0042908 xenobiotic transport
GO:0055085 transmembrane transport

Cellular Component:
GO:0005743 mitochondrial inner membrane
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AB020629 - Homo sapiens KIAA0822 mRNA for KIAA0822 protein.
AK304360 - Homo sapiens cDNA FLJ61077 complete cds, highly similar to Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.
BC130280 - Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8, mRNA (cDNA clone MGC:163152 IMAGE:40146311), complete cds.
BC143972 - Homo sapiens cDNA clone IMAGE:9052490, containing frame-shift errors.
BC143971 - Homo sapiens cDNA clone IMAGE:9052489, containing frame-shift errors.
AK304286 - Homo sapiens cDNA FLJ50363 complete cds, highly similar to Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.
AK295876 - Homo sapiens cDNA FLJ56986 partial cds, highly similar to Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.
BC037309 - Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8, mRNA (cDNA clone IMAGE:5262251), complete cds.
BC047765 - Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8, mRNA (cDNA clone IMAGE:5761384), complete cds.
BC094689 - Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8, mRNA (cDNA clone IMAGE:30374415), complete cds.
BC010392 - Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8, mRNA (cDNA clone IMAGE:4249503), with apparent retained intron.
BC024003 - Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8, mRNA (cDNA clone IMAGE:4821839), complete cds.
JD061588 - Sequence 42612 from Patent EP1572962.
JD317557 - Sequence 298581 from Patent EP1572962.
JD513010 - Sequence 494034 from Patent EP1572962.
JD132545 - Sequence 113569 from Patent EP1572962.
JD254236 - Sequence 235260 from Patent EP1572962.
JD410677 - Sequence 391701 from Patent EP1572962.
JD058650 - Sequence 39674 from Patent EP1572962.
JD289343 - Sequence 270367 from Patent EP1572962.
JD283411 - Sequence 264435 from Patent EP1572962.
JD224190 - Sequence 205214 from Patent EP1572962.
JD464681 - Sequence 445705 from Patent EP1572962.
AB527097 - Synthetic construct DNA, clone: pF1KA0822, Homo sapiens ABCA8 gene for ATP-binding cassette, sub-family A (ABC1), member 8, without stop codon, in Flexi system.
JD444291 - Sequence 425315 from Patent EP1572962.
JD396977 - Sequence 378001 from Patent EP1572962.
JD305445 - Sequence 286469 from Patent EP1572962.
AK090894 - Homo sapiens cDNA FLJ33575 fis, clone BRAMY2011216.
CU690496 - Synthetic construct Homo sapiens gateway clone IMAGE:100022702 5' read ABCA8 mRNA.
KJ902094 - Synthetic construct Homo sapiens clone ccsbBroadEn_11488 ABCA8 gene, encodes complete protein.
JD347818 - Sequence 328842 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa02010 - ABC transporters

Reactome (by CSHL, EBI, and GO)

Protein O94911 (Reactome details) participates in the following event(s):

R-HSA-1467457 ABCA8,B1,B5 transport xenobiotics from cytosol to extracellular region
R-HSA-382556 ABC-family proteins mediated transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: A1L3U3, ABCA8 , ABCA8_HUMAN, C9JQE6, ENST00000586539.1, ENST00000586539.2, ENST00000586539.3, ENST00000586539.4, ENST00000586539.5, KIAA0822 , NM_001288985, O94911, Q86WW0, uc002jhq.1, uc002jhq.2, uc002jhq.3, uc002jhq.4, uc002jhq.5, uc002jhq.6
UCSC ID: ENST00000586539.6
RefSeq Accession: NM_001288985.2
Protein: O94911 (aka ABCA8_HUMAN)
CCDS: CCDS11680.1, CCDS74138.1, CCDS74139.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.