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Entry version 169 (23 Feb 2022)
Sequence version 4 (10 Feb 2021)
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Protein

ABC-type organic anion transporter ABCA8

Gene

ABCA8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalyzes ATP-dependent import of organic anions such as taurocholate and estrone sulfate (PubMed:12379217).

In vitro, also imports ochratoxin A (PubMed:12379217).

Also mediates cholesterol efflux independent of apolipoprotein, and plays a role in sphingomyelin production in oligodendrocytes (PubMed:23560799).

2 Publications

Catalyzes ATP-dependent efflux of cholesterol and taurocholate (PubMed:29300488).

Interaction with ABCA1 potentiates cholesterol efflux to lipid-free APOA1, which regulates high-density lipoprotein cholesterol levels (PubMed:28882873).

2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Dofequidar (MS-209) and ochratoxin A inhibited the 17beta-estradiol 17-O-(beta-D-glucuronate) influx.1 Publication
Cholesterol efflux is increased by extracellularly applied taurocholate.1 Publication

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=30.4 µM for estradiol-beta-glucuronide1 Publication
  2. KM=0.1 µM for LTC41 Publication
  3. KM=10.3 µM for taurochlorate1 Publication
  4. KM=5.0 µM for PAH1 Publication
  5. KM=0.5 µM for estrone sulfate1 Publication
  6. KM=0.4 µM for ochratoxin A1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi516 – 523ATP 1PROSITE-ProRule annotation8
Nucleotide bindingi1323 – 1330ATP 2PROSITE-ProRule annotation8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionTranslocase
Biological processLipid transport, Transport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
O94911

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-382556, ABC-family proteins mediated transport

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
O94911

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
O94911

Protein family/group databases

Transport Classification Database

More...
TCDBi
3.A.1.211.6, the atp-binding cassette (abc) superfamily

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
ABC-type organic anion transporter ABCA8 (EC:7.6.2.-1 Publication)
Alternative name(s):
ATP-binding cassette sub-family A member 8Curated
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ABCA8Imported
Synonyms:KIAA08221 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:38, ABCA8

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612505, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O94911

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000141338

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei30 – 50HelicalSequence analysisAdd BLAST21
Transmembranei220 – 240HelicalSequence analysisAdd BLAST21
Transmembranei268 – 288HelicalSequence analysisAdd BLAST21
Transmembranei299 – 319HelicalSequence analysisAdd BLAST21
Transmembranei327 – 347HelicalSequence analysisAdd BLAST21
Transmembranei359 – 379HelicalSequence analysisAdd BLAST21
Transmembranei397 – 417HelicalSequence analysisAdd BLAST21
Transmembranei864 – 884HelicalSequence analysisAdd BLAST21
Transmembranei1019 – 1039HelicalSequence analysisAdd BLAST21
Transmembranei1070 – 1090HelicalSequence analysisAdd BLAST21
Transmembranei1106 – 1126HelicalSequence analysisAdd BLAST21
Transmembranei1136 – 1156HelicalSequence analysisAdd BLAST21
Transmembranei1161 – 1181HelicalSequence analysisAdd BLAST21
Transmembranei1197 – 1217HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
10351

Open Targets

More...
OpenTargetsi
ENSG00000141338

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24383

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
O94911, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ABCA8

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002506771 – 1621ABC-type organic anion transporter ABCA8Add BLAST1621

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi71N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi84N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi194N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi243N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi484N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi555N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi616N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi724N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi797N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi919N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi948N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi967N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1270N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1308N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1373N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1435N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O94911

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
O94911

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O94911

PeptideAtlas

More...
PeptideAtlasi
O94911

PRoteomics IDEntifications database

More...
PRIDEi
O94911

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
11233
50546 [O94911-1]
50547 [O94911-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
O94911, 16 sites

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O94911

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O94911

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed with higher expression in heart, skeletal muscle and liver (PubMed:12379217, PubMed:28882873, PubMed:29300488). Highly expressed in the superior frontal white matter and inferior temporal white matter (PubMed:12379217).3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000141338, Expressed in corpus callosum and 237 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O94911, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O94911, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000141338, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with ABCA1; this interaction potentiates cholesterol efflux.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
115632, 5 interactors

Protein interaction database and analysis system

More...
IntActi
O94911, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000467271

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
O94911, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
O94911

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini480 – 715ABC transporter 1PROSITE-ProRule annotationAdd BLAST236
Domaini1285 – 1518ABC transporter 2PROSITE-ProRule annotationAdd BLAST234

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0059, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000162012

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_000604_19_1_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O94911

Identification of Orthologs from Complete Genome Data

More...
OMAi
IMTTHFL

Database of Orthologous Groups

More...
OrthoDBi
131191at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O94911

TreeFam database of animal gene trees

More...
TreeFami
TF105192

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.40.50.300, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003593, AAA+_ATPase
IPR003439, ABC_transporter-like_ATP-bd
IPR017871, ABC_transporter-like_CS
IPR026082, ABCA
IPR030372, ABCA8
IPR027417, P-loop_NTPase

The PANTHER Classification System

More...
PANTHERi
PTHR19229, PTHR19229, 1 hit
PTHR19229:SF148, PTHR19229:SF148, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00005, ABC_tran, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00382, AAA, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52540, SSF52540, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00211, ABC_TRANSPORTER_1, 1 hit
PS50893, ABC_TRANSPORTER_2, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 3 (identifier: O94911-3) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MRKRKISVCQ QTWALLCKNF LKKWRMKRES LMEWLNSLLL LLCLYIYPHS
60 70 80 90 100
HQVNDFSSLL TMDLGRVDTF NESRFSVVYT PVTNTTQQIM NKVASTPFLA
110 120 130 140 150
GKEVLGLPDE ESIKEFTANY PEEIVRVTFT NTYSYHLKFL LGHGMPAKKE
160 170 180 190 200
HKDHTAHCYE TNEDVYCEVS VFWKEGFVAL QAAINAAIIE ITTNHSVMEE
210 220 230 240 250
LMSVTGKNMK MHSFIGQSGV ITDLYLFSCI ISFSSFIYYA SVNVTRERKR
260 270 280 290 300
MKALMTMMGL RDSAFWLSWG LLYAGFIFIM ALFLALVIRS TQFIILSGFM
310 320 330 340 350
VVFSLFLLYG LSLVALAFLM SILVKKSFLT GLVVFLLTVF WGCLGFTSLY
360 370 380 390 400
RHLPASLEWI LSLLSPFAFM LGMAQLLHLD YDLNSNAFPH PSDGSNLIVA
410 420 430 440 450
TNFMLAFDTC LYLALAIYFE KILPNEYGHR RPPLFFLKSS FWSQTQKTDH
460 470 480 490 500
VALEDEMDAD PSFHDSFEQA PPEFQGKEAI RIRNVTKEYK GKPDKIEALK
510 520 530 540 550
DLVFDIYEGQ ITAILGHSGA GKSTLLNILS GLSVPTKGSV TIYNNKLSEM
560 570 580 590 600
ADLENLSKLT GVCPQSNVQF DFLTVRENLR LFAKIKGILP QEVDKEIQRV
610 620 630 640 650
LLELEMKNIQ DVLAQNLSGG QKRKLTFGIA ILGDPQIFLL DEPTAGLDPF
660 670 680 690 700
SRHQVWNLLK ERKTDRVILF STQFMDEADI LADRKVFLSQ GKLKCAGSSL
710 720 730 740 750
FLKKKWGIGY HLSLQLNEIC VEENITSLVK QHIPDAKLSA KSEGKLIYTL
760 770 780 790 800
PLERTNKFPE LYKDLDSYPD LGIENYGVSM TTLNEVFLKL EGKSTINESD
810 820 830 840 850
IAILGEVQAE KADDTERLVE MEQVLSSLNK MRKTIGGVAL WRQQICAIAR
860 870 880 890 900
VRLLKLKHER KALLALLLIL MAGFCPLLVE YTMVKIYQNS YTWELSPHLY
910 920 930 940 950
FLAPGQQPHD PLTQLLIINK TGASIDDFIQ SVEHQNIALE VDAFGTRNGT
960 970 980 990 1000
DDPSYNGAIT VCCNEKNYSF SLACNAKRLN CFPVLMDIVS NGLLGMVKPS
1010 1020 1030 1040 1050
VHIRTERSTF LENGQDNPIG FLAYIMFWLV LTSSCPPYIA MSSIDDYKNR
1060 1070 1080 1090 1100
ARSQLRISGL SPSAYWFGQA LVDVSLYFLV FVFIYLMSYI SNFEDMLLTI
1110 1120 1130 1140 1150
IHIIQIPCAV GYSFSLIFMT YVISFIFRKG RKNSGIWSFC FYVVTVFSVA
1160 1170 1180 1190 1200
GFAFSIFESD IPFIFTFLIP PATMIGCLFL SSHLLFSSLF SEERMDVQPF
1210 1220 1230 1240 1250
LVFLIPFLHF IIFLFTLRCL EWKFGKKSMR KDPFFRISPR SSDVCQNPEE
1260 1270 1280 1290 1300
PEGEDEDVQM ERVRTANALN STNFDEKPVI IASCLRKEYA GKRKGCFSKR
1310 1320 1330 1340 1350
KNKIATRNVS FCVRKGEVLG LLGHNGAGKS TSIKVITGDT KPTAGQVLLK
1360 1370 1380 1390 1400
GSGGGDALEF LGYCPQENAL WPNLTVRQHL EVYAAVKGLR KGDAEVAITR
1410 1420 1430 1440 1450
LVDALKLQDQ LKSPVKTLSE GIKRKLCFVL SILGNPSVVL LDEPSTGMDP
1460 1470 1480 1490 1500
EGQQQMWQAI RATFRNTERG ALLTTHYMAE AEAVCDRVAI MVSGRLRCIG
1510 1520 1530 1540 1550
SIQHLKSKFG KDYLLEMKVK NLAQVEPLHA EILRLFPQAA RQERYSSLMV
1560 1570 1580 1590 1600
YKLPVEDVQP LAQAFFKLEK VKQSFDLEEY SLSQSTLEQV FLELSKEQEL
1610 1620
GDFEEDFDPS VKWKLLPQEE P
Length:1,621
Mass (Da):183,677
Last modified:February 10, 2021 - v4
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iC50C8E2624BA4734
GO
Isoform 1 (identifier: O94911-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     598-637: Missing.

Show »
Length:1,581
Mass (Da):179,245
Checksum:i8BEB6F74B4130ACA
GO
Isoform 2 (identifier: O94911-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     267-1621: Missing.

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Length:266
Mass (Da):30,788
Checksum:i45A0B73CEDC97079
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MSU4A0A0A0MSU4_HUMAN
ABC-type organic anion transporter ...
ABCA8
1,616Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A075B774A0A075B774_HUMAN
ABC-type organic anion transporter ...
ABCA8
702Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q49AI9Q49AI9_HUMAN
ABC-type organic anion transporter ...
ABCA8
156Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7ELK9K7ELK9_HUMAN
ABC-type organic anion transporter ...
ABCA8
115Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA74845 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_027590256T → A. Corresponds to variant dbSNP:rs16973446Ensembl.1
Natural variantiVAR_027591331G → S1 PublicationCorresponds to variant dbSNP:rs4147979Ensembl.1
Natural variantiVAR_048130416A → V1 PublicationCorresponds to variant dbSNP:rs35621847Ensembl.1
Natural variantiVAR_027592489Y → F. Corresponds to variant dbSNP:rs12150510Ensembl.1
Natural variantiVAR_084139649P → R Affects localization at the plasma membrane; loss of cholesterol efflux to APOA1. 1 PublicationCorresponds to variant dbSNP:rs144777539Ensembl.1
Natural variantiVAR_048131659L → R. Corresponds to variant dbSNP:rs35844316Ensembl.1
Natural variantiVAR_027593720C → G. Corresponds to variant dbSNP:rs16973424Ensembl.1
Natural variantiVAR_084140781 – 1621Missing Loss of expression; loss of cholesterol efflux to APOA1. 1 PublicationAdd BLAST841
Natural variantiVAR_0481321470G → S. Corresponds to variant dbSNP:rs35403175Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_060911267 – 1621Missing in isoform 2. Add BLAST1355
Alternative sequenceiVSP_060912598 – 637Missing in isoform 1. Add BLAST40

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AB020629 mRNA Translation: BAA74845.2 Different initiation.
AC005922 Genomic DNA No translation available.
AC015844 Genomic DNA No translation available.
BC024003 mRNA Translation: AAH24003.1
BC047765 mRNA Translation: AAH47765.1
BC094689 mRNA Translation: AAH94689.1
BC130280 mRNA Translation: AAI30281.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS11680.1 [O94911-1]
CCDS74139.1 [O94911-3]

NCBI Reference Sequences

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RefSeqi
NP_001275914.1, NM_001288985.1 [O94911-3]
NP_001275915.1, NM_001288986.1
NP_009099.1, NM_007168.3 [O94911-1]
XP_005256995.1, XM_005256938.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000269080; ENSP00000269080; ENSG00000141338 [O94911-1]
ENST00000586539; ENSP00000467271; ENSG00000141338

Database of genes from NCBI RefSeq genomes

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GeneIDi
10351

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:10351

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

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MANE-Selecti
ENST00000586539.6; ENSP00000467271.1; NM_001288985.2; NP_001275914.1

UCSC genome browser

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UCSCi
uc002jhp.5, human [O94911-3]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

ABCMdb

Database for mutations in ABC proteins

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB020629 mRNA Translation: BAA74845.2 Different initiation.
AC005922 Genomic DNA No translation available.
AC015844 Genomic DNA No translation available.
BC024003 mRNA Translation: AAH24003.1
BC047765 mRNA Translation: AAH47765.1
BC094689 mRNA Translation: AAH94689.1
BC130280 mRNA Translation: AAI30281.1
CCDSiCCDS11680.1 [O94911-1]
CCDS74139.1 [O94911-3]
RefSeqiNP_001275914.1, NM_001288985.1 [O94911-3]
NP_001275915.1, NM_001288986.1
NP_009099.1, NM_007168.3 [O94911-1]
XP_005256995.1, XM_005256938.2

3D structure databases

SMRiO94911
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi115632, 5 interactors
IntActiO94911, 1 interactor
STRINGi9606.ENSP00000467271

Protein family/group databases

TCDBi3.A.1.211.6, the atp-binding cassette (abc) superfamily

PTM databases

GlyGeniO94911, 16 sites
iPTMnetiO94911
PhosphoSitePlusiO94911

Genetic variation databases

BioMutaiABCA8

Proteomic databases

jPOSTiO94911
MassIVEiO94911
PaxDbiO94911
PeptideAtlasiO94911
PRIDEiO94911
ProteomicsDBi11233
50546 [O94911-1]
50547 [O94911-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
31802, 136 antibodies from 27 providers

The DNASU plasmid repository

More...
DNASUi
10351

Genome annotation databases

EnsembliENST00000269080; ENSP00000269080; ENSG00000141338 [O94911-1]
ENST00000586539; ENSP00000467271; ENSG00000141338
GeneIDi10351
KEGGihsa:10351
MANE-SelectiENST00000586539.6; ENSP00000467271.1; NM_001288985.2; NP_001275914.1
UCSCiuc002jhp.5, human [O94911-3]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
10351
DisGeNETi10351

GeneCards: human genes, protein and diseases

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GeneCardsi
ABCA8
HGNCiHGNC:38, ABCA8
HPAiENSG00000141338, Low tissue specificity
MIMi612505, gene
neXtProtiNX_O94911
OpenTargetsiENSG00000141338
PharmGKBiPA24383
VEuPathDBiHostDB:ENSG00000141338

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0059, Eukaryota
GeneTreeiENSGT00940000162012
HOGENOMiCLU_000604_19_1_1
InParanoidiO94911
OMAiIMTTHFL
OrthoDBi131191at2759
PhylomeDBiO94911
TreeFamiTF105192

Enzyme and pathway databases

PathwayCommonsiO94911
ReactomeiR-HSA-382556, ABC-family proteins mediated transport
SABIO-RKiO94911
SignaLinkiO94911

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
10351, 7 hits in 1047 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
ABCA8, human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ABCA8

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
10351
PharosiO94911, Tbio

Protein Ontology

More...
PROi
PR:O94911
RNActiO94911, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000141338, Expressed in corpus callosum and 237 other tissues
ExpressionAtlasiO94911, baseline and differential
GenevisibleiO94911, HS

Family and domain databases

Gene3Di3.40.50.300, 2 hits
InterProiView protein in InterPro
IPR003593, AAA+_ATPase
IPR003439, ABC_transporter-like_ATP-bd
IPR017871, ABC_transporter-like_CS
IPR026082, ABCA
IPR030372, ABCA8
IPR027417, P-loop_NTPase
PANTHERiPTHR19229, PTHR19229, 1 hit
PTHR19229:SF148, PTHR19229:SF148, 1 hit
PfamiView protein in Pfam
PF00005, ABC_tran, 2 hits
SMARTiView protein in SMART
SM00382, AAA, 2 hits
SUPFAMiSSF52540, SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS00211, ABC_TRANSPORTER_1, 1 hit
PS50893, ABC_TRANSPORTER_2, 2 hits

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiABCA8_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O94911
Secondary accession number(s): A1L3U3, C9JQE6, Q86WW0
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: February 10, 2021
Last modified: February 23, 2022
This is version 169 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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