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UniProtKB - O94911 (ABCA8_HUMAN)

Entry version 161 (22 Apr 2020)
Sequence version 3 (03 Oct 2006)
Previous versions | rss
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Protein

ATP-binding cassette sub-family A member 8

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

ATP-dependent lipophilic drug transporter.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 bindingi1283 – 1290ATP 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

    Complete GO annotation on QuickGO ...

    GO - Biological processi

    Complete GO annotation on QuickGO ...

    <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

    Biological processTransport
    LigandATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    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

    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:
    ATP-binding cassette sub-family A member 8
    <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:ABCA8
    Synonyms:KIAA0822
    <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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
    <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

    <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

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

    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
    Transmembranei824 – 844HelicalSequence analysisAdd BLAST21
    Transmembranei979 – 999HelicalSequence analysisAdd BLAST21
    Transmembranei1030 – 1050HelicalSequence analysisAdd BLAST21
    Transmembranei1066 – 1086HelicalSequence analysisAdd BLAST21
    Transmembranei1096 – 1116HelicalSequence analysisAdd BLAST21
    Transmembranei1121 – 1141HelicalSequence analysisAdd BLAST21
    Transmembranei1157 – 1177HelicalSequence 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

    Polymorphism and mutation 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 – 1581ATP-binding cassette sub-family A member 8Add BLAST1581

    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>Glycosylationi84N-linked (GlcNAc...) asparagine1 Publication1
    Glycosylationi243N-linked (GlcNAc...) asparagineSequence analysis1
    Glycosylationi484N-linked (GlcNAc...) asparagineSequence analysis1
    Glycosylationi555N-linked (GlcNAc...) asparagineSequence analysis1
    Glycosylationi908N-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

    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.1 Publication

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...    Bgeei    		ENSG00000141338 Expressed in corpus callosum and 225 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

    Protein-protein interaction databases

    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 – 675ABC transporter 1PROSITE-ProRule annotationAdd BLAST196
    Domaini1245 – 1478ABC 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

    Belongs to the ABC transporter superfamily. ABCA family.Curated

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...    eggNOGi    		KOG0059 Eukaryota
    COG1131 LUCA

    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

    KEGG Orthology (KO)

    More...    KOi    		K05650

    Identification of Orthologs from Complete Genome Data

    More...    OMAi    		FWSRQQK

    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

    Integrated resource of protein families, domains and functional sites

    More...    InterProi    		View protein in InterPro
    IPR003593 AAA+_ATPase
    IPR003439 ABC_transporter-like
    IPR026082 ABCA
    IPR027417 P-loop_NTPase

    The PANTHER Classification System

    More...    PANTHERi    		PTHR19229 PTHR19229, 2 hits

    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
    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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 1 (identifier: O94911-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><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 QEVDKEIFLL 
           610        620        630        640        650
    DEPTAGLDPF SRHQVWNLLK ERKTDRVILF STQFMDEADI LADRKVFLSQ 
           660        670        680        690        700
    GKLKCAGSSL FLKKKWGIGY HLSLQLNEIC VEENITSLVK QHIPDAKLSA 
           710        720        730        740        750
    KSEGKLIYTL PLERTNKFPE LYKDLDSYPD LGIENYGVSM TTLNEVFLKL 
           760        770        780        790        800
    EGKSTINESD IAILGEVQAE KADDTERLVE MEQVLSSLNK MRKTIGGVAL 
           810        820        830        840        850
    WRQQICAIAR VRLLKLKHER KALLALLLIL MAGFCPLLVE YTMVKIYQNS 
           860        870        880        890        900
    YTWELSPHLY FLAPGQQPHD PLTQLLIINK TGASIDDFIQ SVEHQNIALE 
           910        920        930        940        950
    VDAFGTRNGT DDPSYNGAIT VCCNEKNYSF SLACNAKRLN CFPVLMDIVS 
           960        970        980        990       1000
    NGLLGMVKPS VHIRTERSTF LENGQDNPIG FLAYIMFWLV LTSSCPPYIA 
          1010       1020       1030       1040       1050
    MSSIDDYKNR ARSQLRISGL SPSAYWFGQA LVDVSLYFLV FVFIYLMSYI 
          1060       1070       1080       1090       1100
    SNFEDMLLTI IHIIQIPCAV GYSFSLIFMT YVISFIFRKG RKNSGIWSFC 
          1110       1120       1130       1140       1150
    FYVVTVFSVA GFAFSIFESD IPFIFTFLIP PATMIGCLFL SSHLLFSSLF 
          1160       1170       1180       1190       1200
    SEERMDVQPF LVFLIPFLHF IIFLFTLRCL EWKFGKKSMR KDPFFRISPR 
          1210       1220       1230       1240       1250
    SSDVCQNPEE PEGEDEDVQM ERVRTANALN STNFDEKPVI IASCLRKEYA 
          1260       1270       1280       1290       1300
    GKRKGCFSKR KNKIATRNVS FCVRKGEVLG LLGHNGAGKS TSIKVITGDT 
          1310       1320       1330       1340       1350
    KPTAGQVLLK GSGGGDALEF LGYCPQENAL WPNLTVRQHL EVYAAVKGLR 
          1360       1370       1380       1390       1400
    KGDAEVAITR LVDALKLQDQ LKSPVKTLSE GIKRKLCFVL SILGNPSVVL 
          1410       1420       1430       1440       1450
    LDEPSTGMDP EGQQQMWQAI RATFRNTERG ALLTTHYMAE AEAVCDRVAI 
          1460       1470       1480       1490       1500
    MVSGRLRCIG SIQHLKSKFG KDYLLEMKVK NLAQVEPLHA EILRLFPQAA 
          1510       1520       1530       1540       1550
    RQERYSSLMV YKLPVEDVQP LAQAFFKLEK VKQSFDLEEY SLSQSTLEQV 
          1560       1570       1580 
    FLELSKEQEL GDFEEDFDPS VKWKLLPQEE P
    Length:1,581
    Mass (Da):179,245
    Last modified:October 3, 2006 - v3
    <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:i8BEB6F74B4130ACA
    GO
    Isoform 2 (identifier: O94911-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         267-1581: Missing.

    Show »
    Length:266
    Mass (Da):30,788
    Checksum:i45A0B73CEDC97079
    GO
    Isoform 3 (identifier: O94911-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         596-596: E → EIQRVLLELEMKNIQDVLAQNLSGGQKRKLTFGIAILGDPQ

    Show »
    Length:1,621
    Mass (Da):183,677
    Checksum:iC50C8E2624BA4734
    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
    ATP-binding cassette sub-family A m...
    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
    ATP-binding cassette sub-family A m...
    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
    ABCA8 protein
    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
    ATP-binding cassette sub-family A m...
    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.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_048131619L → R. Corresponds to variant dbSNP:rs35844316Ensembl.1
    Natural variantiVAR_027593680C → G. Corresponds to variant dbSNP:rs16973424Ensembl.1
    Natural variantiVAR_0481321430G → 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_020703267 – 1581Missing in isoform 2. 1 PublicationAdd BLAST1315
    Alternative sequenceiVSP_053440596E → EIQRVLLELEMKNIQDVLAQ NLSGGQKRKLTFGIAILGDP Q in isoform 3. 1 Publication1

    Sequence databases

    Select the link destinations:

    EMBL nucleotide sequence database

    More...    EMBLi

    GenBank nucleotide sequence database

    More...    GenBanki

    DNA Data Bank of Japan; a nucleotide sequence database

    More...    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

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

    NCBI Reference Sequences

    More...    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

    More...    Ensembli    		ENST00000269080; ENSP00000269080; ENSG00000141338 [O94911-1]
    ENST00000586539; ENSP00000467271; ENSG00000141338 [O94911-3]

    Database of genes from NCBI RefSeq genomes

    More...    GeneIDi    		10351

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...    KEGGi    		hsa:10351

    UCSC genome browser

    More...    UCSCi    		uc002jhp.5 human [O94911-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    <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

    IntActiO94911, 1 interactor
    STRINGi9606.ENSP00000467271

    Protein family/group databases

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

    PTM databases

    iPTMnetiO94911
    PhosphoSitePlusiO94911

    Polymorphism and mutation 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

    More...    Antibodypediai    		31802 128 antibodies

    Genome annotation databases

    EnsembliENST00000269080; ENSP00000269080; ENSG00000141338 [O94911-1]
    ENST00000586539; ENSP00000467271; ENSG00000141338 [O94911-3]
    GeneIDi10351
    KEGGihsa:10351
    UCSCiuc002jhp.5 human [O94911-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...    CTDi    		10351
    DisGeNETi10351

    GeneCards: human genes, protein and diseases

    More...    GeneCardsi    		ABCA8
    HGNCiHGNC:38 ABCA8
    HPAiENSG00000141338 Low tissue specificity
    MIMi612505 gene
    neXtProtiNX_O94911
    OpenTargetsiENSG00000141338
    PharmGKBiPA24383

    Human Unidentified Gene-Encoded large proteins database

    More...    HUGEi    		Search...

    GenAtlas: human gene database

    More...    GenAtlasi    		Search...

    Phylogenomic databases

    eggNOGiKOG0059 Eukaryota
    COG1131 LUCA
    GeneTreeiENSGT00940000162012
    HOGENOMiCLU_000604_19_1_1
    InParanoidiO94911
    KOiK05650
    OMAiFWSRQQK
    OrthoDBi131191at2759
    PhylomeDBiO94911
    TreeFamiTF105192

    Enzyme and pathway databases

    ReactomeiR-HSA-382556 ABC-family proteins mediated transport
    SABIO-RKiO94911

    Miscellaneous databases

    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

    More...    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 225 other tissues
    ExpressionAtlasiO94911 baseline and differential
    GenevisibleiO94911 HS

    Family and domain databases

    InterProiView protein in InterPro
    IPR003593 AAA+_ATPase
    IPR003439 ABC_transporter-like
    IPR026082 ABCA
    IPR027417 P-loop_NTPase
    PANTHERiPTHR19229 PTHR19229, 2 hits
    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
    PS50893 ABC_TRANSPORTER_2, 2 hits

    ProtoNet; Automatic hierarchical classification of proteins

    More...    ProtoNeti    		Search...

    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: October 3, 2006
    Last modified: April 22, 2020
    This is version 161 of the entry and version 3 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. SIMILARITY comments
      Index of protein domains and families
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
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