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UniProtKB - Q9BZC7 (ABCA2_HUMAN)

Entry version 168 (02 Dec 2020)
Sequence version 4 (12 Sep 2018)
Previous versions | rss
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Protein

ATP-binding cassette sub-family A member 2

Gene

ABCA2

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

Probable transporter, its natural substrate has not been found yet. May have a role in macrophage lipid metabolism and neural development.

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 bindingi1024 – 1031ATP 1PROSITE-ProRule annotation8
Nucleotide bindingi2087 – 2094ATP 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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9BZC7

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1369062, ABC transporters in lipid homeostasis

Protein family/group databases

Transport Classification Database

More...TCDBi		3.A.1.211.3, 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 2
Alternative name(s):
ATP-binding cassette transporter 2
Short name:
ATP-binding cassette 2
<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:ABCA2
Synonyms:ABC2, KIAA1062
<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 9

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000107331.16

Human Gene Nomenclature Database

More...HGNCi		HGNC:32, ABCA2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600047, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9BZC7

<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>Transmembranei22 – 42HelicalSequence analysisAdd BLAST21
Transmembranei54 – 74HelicalSequence analysisAdd BLAST21
Transmembranei699 – 719HelicalSequence analysisAdd BLAST21
Transmembranei750 – 770HelicalSequence analysisAdd BLAST21
Transmembranei782 – 802HelicalSequence analysisAdd BLAST21
Transmembranei813 – 833HelicalSequence analysisAdd BLAST21
Transmembranei857 – 877HelicalSequence analysisAdd BLAST21
Transmembranei893 – 913HelicalSequence analysisAdd BLAST21
Transmembranei1456 – 1476HelicalSequence analysisAdd BLAST21
Transmembranei1792 – 1812HelicalSequence analysisAdd BLAST21
Transmembranei1841 – 1861HelicalSequence analysisAdd BLAST21
Transmembranei1872 – 1892HelicalSequence analysisAdd BLAST21
Transmembranei1905 – 1925HelicalSequence analysisAdd BLAST21
Transmembranei1991 – 2011HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endosome, Lysosome, 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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Intellectual developmental disorder with poor growth and with or without seizures or ataxia (IDPOGSA)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by global developmental delay apparent from infancy, impaired intellectual development, hypotonia, and poor overall growth with microcephaly. Additional variable features include dysmorphic features, cataracts, ataxia and seizures.
Related information in OMIM
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_082138343 – 2435Missing in IDPOGSA. 1 PublicationCorresponds to variant dbSNP:rs1588524458Add BLAST2093

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi271Q → R: Abolishes methylation by N6AMT1. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		20

MalaCards human disease database

More...MalaCardsi		ABCA2
MIMi618808, phenotype

Open Targets

More...OpenTargetsi		ENSG00000107331

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24377

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9BZC7, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ABCA2

Domain mapping of disease mutations (DMDM)

More...DMDMi		206729923

<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_00000932901 – 2435ATP-binding cassette sub-family A member 2Add BLAST2435

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>Glycosylationi14N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi89N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi168N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi173N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei271N5-methylglutamine1 Publication1
Glycosylationi305N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi368N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi379N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi420N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi432N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi476N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi484N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi494N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi530N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi544N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi590N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi600N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi628N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei1238PhosphoserineCombined sources1
Modified residuei1327PhosphoserineCombined sources1
Modified residuei1331PhosphoserineCombined sources1
Glycosylationi1408N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1496N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1549N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1557N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1612N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1677N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1775N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2054N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei2412PhosphothreonineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Methylated at Gln-271 by N6AMT1.1 Publication

Keywords - PTMi

Glycoprotein, Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9BZC7

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9BZC7

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9BZC7

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

More...PaxDbi		Q9BZC7

PeptideAtlas

More...PeptideAtlasi		Q9BZC7

PRoteomics IDEntifications database

More...PRIDEi		Q9BZC7

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		79809 [Q9BZC7-1]
79810 [Q9BZC7-2]
79811 [Q9BZC7-3]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1021, 2 N-Linked glycans (1 site)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q9BZC7, 26 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9BZC7

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

More...PhosphoSitePlusi		Q9BZC7

<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

Highly expressed in the brain, whereas lower levels of expression is observed in kidney and liver.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000107331, Expressed in C1 segment of cervical spinal cord and 194 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9BZC7, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9BZC7, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000107331, Tissue enriched (brain)

<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

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		106538, 24 interactors

Protein interaction database and analysis system

More...IntActi		Q9BZC7, 24 interactors

Molecular INTeraction database

More...MINTi		Q9BZC7

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000344155

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9BZC7, 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		Q9BZC7

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>Domaini990 – 1221ABC transporter 1PROSITE-ProRule annotationAdd BLAST232
Domaini2050 – 2285ABC transporter 2PROSITE-ProRule annotationAdd BLAST236

<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

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158560

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000604_19_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9BZC7

Database of Orthologous Groups

More...OrthoDBi		131191at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9BZC7

TreeFam database of animal gene trees

More...TreeFami		TF105191

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
IPR017871, ABC_transporter_CS
IPR026082, ABCA
IPR027417, P-loop_NTPase

The PANTHER Classification System

More...PANTHERi		PTHR19229, PTHR19229, 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. 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 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BZC7-1) [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
MGFLHQLQLL LWKNVTLKRR SPWVLAFEIF IPLVLFFILL GLRQKKPTIS 
        60         70         80         90        100
VKEAFYTAAP LTSAGILPVM QSLCPDGQRD EFGFLQYANS TVTQLLERLD 
       110        120        130        140        150
RVVEEGNLFD PARPSLGSEL EALRQHLEAL SAGPGTSGSH LDRSTVSSFS 
       160        170        180        190        200
LDSVARNPQE LWRFLTQNLS LPNSTAQALL AARVDPPEVY HLLFGPSSAL 
       210        220        230        240        250
DSQSGLHKGQ EPWSRLGGNP LFRMEELLLA PALLEQLTCT PGSGELGRIL 
       260        270        280        290        300
TVPESQKGAL QGYRDAVCSG QAAARARRFS GLSAELRNQL DVAKVSQQLG 
       310        320        330        340        350
LDAPNGSDSS PQAPPPRRLQ ALLGDLLDAQ KVLQDVDVLS ALALLLPQGA 
       360        370        380        390        400
CTGRTPGPPA SGAGGAANGT GAGAVMGPNA TAEEGAPSAA ALATPDTLQG 
       410        420        430        440        450
QCSAFVQLWA GLQPILCGNN RTIEPEALRR GNMSSLGFTS KEQRNLGLLV 
       460        470        480        490        500
HLMTSNPKIL YAPAGSEVDR VILKANETFA FVGNVTHYAQ VWLNISAEIR 
       510        520        530        540        550
SFLEQGRLQQ HLRWLQQYVA ELRLHPEALN LSLDELPPAL RQDNFSLPSG 
       560        570        580        590        600
MALLQQLDTI DNAACGWIQF MSKVSVDIFK GFPDEESIVN YTLNQAYQDN 
       610        620        630        640        650
VTVFASVIFQ TRKDGSLPPH VHYKIRQNSS FTEKTNEIRR AYWRPGPNTG 
       660        670        680        690        700
GRFYFLYGFV WIQDMMERAI IDTFVGHDVV EPGSYVQMFP YPCYTRDDFL 
       710        720        730        740        750
FVIEHMMPLC MVISWVYSVA MTIQHIVAEK EHRLKEVMKT MGLNNAVHWV 
       760        770        780        790        800
AWFITGFVQL SISVTALTAI LKYGQVLMHS HVVIIWLFLA VYAVATIMFC 
       810        820        830        840        850
FLVSVLYSKA KLASACGGII YFLSYVPYMY VAIREEVAHD KITAFEKCIA 
       860        870        880        890        900
SLMSTTAFGL GSKYFALYEV AGVGIQWHTF SQSPVEGDDF NLLLAVTMLM 
       910        920        930        940        950
VDAVVYGILT WYIEAVHPGM YGLPRPWYFP LQKSYWLGSG RTEAWEWSWP 
       960        970        980        990       1000
WARTPRLSVM EEDQACAMES RRFEETRGME EEPTHLPLVV CVDKLTKVYK 
      1010       1020       1030       1040       1050
DDKKLALNKL SLNLYENQVV SFLGHNGAGK TTTMSILTGL FPPTSGSATI 
      1060       1070       1080       1090       1100
YGHDIRTEMD EIRKNLGMCP QHNVLFDRLT VEEHLWFYSR LKSMAQEEIR 
      1110       1120       1130       1140       1150
REMDKMIEDL ELSNKRHSLV QTLSGGMKRK LSVAIAFVGG SRAIILDEPT 
      1160       1170       1180       1190       1200
AGVDPYARRA IWDLILKYKP GRTILLSTHH MDEADLLGDR IAIISHGKLK 
      1210       1220       1230       1240       1250
CCGSPLFLKG TYGDGYRLTL VKRPAEPGGP QEPGLASSPP GRAPLSSCSE 
      1260       1270       1280       1290       1300
LQVSQFIRKH VASCLLVSDT STELSYILPS EAAKKGAFER LFQHLERSLD 
      1310       1320       1330       1340       1350
ALHLSSFGLM DTTLEEVFLK VSEEDQSLEN SEADVKESRK DVLPGAEGPA 
      1360       1370       1380       1390       1400
SGEGHAGNLA RCSELTQSQA SLQSASSVGS ARGDEGAGYT DVYGDYRPLF 
      1410       1420       1430       1440       1450
DNPQDPDNVS LQEVEAEALS RVGQGSRKLD GGWLKVRQFH GLLVKRFHCA 
      1460       1470       1480       1490       1500
RRNSKALFSQ ILLPAFFVCV AMTVALSVPE IGDLPPLVLS PSQYHNYTQP 
      1510       1520       1530       1540       1550
RGNFIPYANE ERREYRLRLS PDASPQQLVS TFRLPSGVGA TCVLKSPANG 
      1560       1570       1580       1590       1600
SLGPTLNLSS GESRLLAARF FDSMCLESFT QGLPLSNFVP PPPSPAPSDS 
      1610       1620       1630       1640       1650
PASPDEDLQA WNVSLPPTAG PEMWTSAPSL PRLVREPVRC TCSAQGTGFS 
      1660       1670       1680       1690       1700
CPSSVGGHPP QMRVVTGDIL TDITGHNVSE YLLFTSDRFR LHRYGAITFG 
      1710       1720       1730       1740       1750
NVLKSIPASF GTRAPPMVRK IAVRRAAQVF YNNKGYHSMP TYLNSLNNAI 
      1760       1770       1780       1790       1800
LRANLPKSKG NPAAYGITVT NHPMNKTSAS LSLDYLLQGT DVVIAIFIIV 
      1810       1820       1830       1840       1850
AMSFVPASFV VFLVAEKSTK AKHLQFVSGC NPIIYWLANY VWDMLNYLVP 
      1860       1870       1880       1890       1900
ATCCVIILFV FDLPAYTSPT NFPAVLSLFL LYGWSITPIM YPASFWFEVP 
      1910       1920       1930       1940       1950
SSAYVFLIVI NLFIGITATV ATFLLQLFEH DKDLKVVNSY LKSCFLIFPN 
      1960       1970       1980       1990       2000
YNLGHGLMEM AYNEYINEYY AKIGQFDKMK SPFEWDIVTR GLVAMAVEGV 
      2010       2020       2030       2040       2050
VGFLLTIMCQ YNFLRRPQRM PVSTKPVEDD VDVASERQRV LRGDADNDMV 
      2060       2070       2080       2090       2100
KIENLTKVYK SRKIGRILAV DRLCLGVRPG ECFGLLGVNG AGKTSTFKML 
      2110       2120       2130       2140       2150
TGDESTTGGE AFVNGHSVLK ELLQVQQSLG YCPQCDALFD ELTAREHLQL 
      2160       2170       2180       2190       2200
YTRLRGISWK DEARVVKWAL EKLELTKYAD KPAGTYSGGN KRKLSTAIAL 
      2210       2220       2230       2240       2250
IGYPAFIFLD EPTTGMDPKA RRFLWNLILD LIKTGRSVVL TSHSMEECEA 
      2260       2270       2280       2290       2300
LCTRLAIMVN GRLRCLGSIQ HLKNRFGDGY MITVRTKSSQ SVKDVVRFFN 
      2310       2320       2330       2340       2350
RNFPEAMLKE RHHTKVQYQL KSEHISLAQV FSKMEQVSGV LGIEDYSVSQ 
      2360       2370       2380       2390       2400
TTLDNVFVNF AKKQSDNLEQ QETEPPSALQ SPLGCLLSLL RPRSAPTELR 
      2410       2420       2430 
ALVADEPEDL DTEDEGLISF EEERAQLSFN TDTLC
Length:2,435
Mass (Da):269,833
Last modified:September 12, 2018 - 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:iD707CC83F30BE2BF
GO
Isoform 2 (identifier: Q9BZC7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2059-2090: YKSRKIGRILAVDRLCLGVRPGECFGLLGVNG → GSGHVGWGLGGVGQGQGGGAPAVEVEPGWAGP
     2091-2435: Missing.

Show »
Length:2,090
Mass (Da):230,524
Checksum:iD32A190DD0FB30D9
GO
Isoform 3 (identifier: Q9BZC7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     53-54: EA → EVS

Show »
Length:2,436
Mass (Da):269,948
Checksum:i74C503319CE98768
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y8C9H0Y8C9_HUMAN
ATP-binding cassette sub-family A m...
ABCA2
1,066Annotation score:

Annotation score:2 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>
A0A087WXK5A0A087WXK5_HUMAN
ATP-binding cassette sub-family A m...
ABCA2
2,466Annotation score:

Annotation score:2 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>
H0Y8D6H0Y8D6_HUMAN
ATP-binding cassette sub-family A m...
ABCA2
1,441Annotation score:

Annotation score:2 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>
J3QSS3J3QSS3_HUMAN
ATP-binding cassette sub-family A m...
ABCA2
2,436Annotation score:

Annotation score:2 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>
E9PGB2E9PGB2_HUMAN
ATP-binding cassette sub-family A m...
ABCA2
989Annotation 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>
A0A096LP90A0A096LP90_HUMAN
ATP-binding cassette sub-family A m...
ABCA2
121Annotation 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>
H0Y8E3H0Y8E3_HUMAN
ATP-binding cassette sub-family A m...
ABCA2
195Annotation 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>
H7C5M6H7C5M6_HUMAN
ATP-binding cassette sub-family A m...
ABCA2
44Annotation 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>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti2079P → L in AAK14335 (PubMed:11178988).Curated1
Isoform 3 (identifier: Q9BZC7-3)
Sequence conflicti55S → P in AAK14334 (PubMed:11178988).Curated1
Sequence conflicti55S → P in AAK14335 (PubMed:11178988).Curated1
Sequence conflicti55S → P in AAG09372 (PubMed:11309290).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_082138343 – 2435Missing in IDPOGSA. 1 PublicationCorresponds to variant dbSNP:rs1588524458Add BLAST2093
Natural variantiVAR_044526583P → H. Corresponds to variant dbSNP:rs908828Ensembl.1
Natural variantiVAR_044527674F → V. Corresponds to variant dbSNP:rs2090625Ensembl.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_04093753 – 54EA → EVS in isoform 3. 2 Publications2
Alternative sequenceiVSP_0352832059 – 2090YKSRK…LGVNG → GSGHVGWGLGGVGQGQGGGA PAVEVEPGWAGP in isoform 2. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_0352842091 – 2435Missing in isoform 2. 1 PublicationAdd BLAST345

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
AF327657 mRNA Translation: AAK14334.1
AF327705 AF327704 Genomic DNA Translation: AAK14335.1
AF178941 mRNA Translation: AAG09372.1
AL807752 Genomic DNA No translation available.
AB028985 mRNA Translation: BAA83014.2
AB177854 mRNA Translation: BAD66832.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS43909.1 [Q9BZC7-3]

Protein sequence database of the Protein Information Resource

More...PIRi		A59189

NCBI Reference Sequences

More...RefSeqi		NP_001597.2, NM_001606.4 [Q9BZC7-3]
NP_997698.1, NM_212533.2
XP_006717059.1, XM_006716996.3 [Q9BZC7-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000341511; ENSP00000344155; ENSG00000107331 [Q9BZC7-3]
ENST00000371605; ENSP00000360666; ENSG00000107331 [Q9BZC7-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		20

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:20

UCSC genome browser

More...UCSCi		uc011mem.1, human [Q9BZC7-1]

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
AF327657 mRNA Translation: AAK14334.1
AF327705 AF327704 Genomic DNA Translation: AAK14335.1
AF178941 mRNA Translation: AAG09372.1
AL807752 Genomic DNA No translation available.
AB028985 mRNA Translation: BAA83014.2
AB177854 mRNA Translation: BAD66832.1
CCDSiCCDS43909.1 [Q9BZC7-3]
PIRiA59189
RefSeqiNP_001597.2, NM_001606.4 [Q9BZC7-3]
NP_997698.1, NM_212533.2
XP_006717059.1, XM_006716996.3 [Q9BZC7-1]

3D structure databases

SMRiQ9BZC7
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi106538, 24 interactors
IntActiQ9BZC7, 24 interactors
MINTiQ9BZC7
STRINGi9606.ENSP00000344155

Protein family/group databases

TCDBi3.A.1.211.3, the atp-binding cassette (abc) superfamily

PTM databases

GlyConnecti1021, 2 N-Linked glycans (1 site)
GlyGeniQ9BZC7, 26 sites
iPTMnetiQ9BZC7
PhosphoSitePlusiQ9BZC7

Polymorphism and mutation databases

BioMutaiABCA2
DMDMi206729923

Proteomic databases

EPDiQ9BZC7
jPOSTiQ9BZC7
MassIVEiQ9BZC7
PaxDbiQ9BZC7
PeptideAtlasiQ9BZC7
PRIDEiQ9BZC7
ProteomicsDBi79809 [Q9BZC7-1]
79810 [Q9BZC7-2]
79811 [Q9BZC7-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		32309, 216 antibodies

The DNASU plasmid repository

More...DNASUi		20

Genome annotation databases

EnsembliENST00000341511; ENSP00000344155; ENSG00000107331 [Q9BZC7-3]
ENST00000371605; ENSP00000360666; ENSG00000107331 [Q9BZC7-1]
GeneIDi20
KEGGihsa:20
UCSCiuc011mem.1, human [Q9BZC7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		20
DisGeNETi20
EuPathDBiHostDB:ENSG00000107331.16

GeneCards: human genes, protein and diseases

More...GeneCardsi		ABCA2
HGNCiHGNC:32, ABCA2
HPAiENSG00000107331, Tissue enriched (brain)
MalaCardsiABCA2
MIMi600047, gene
618808, phenotype
neXtProtiNX_Q9BZC7
OpenTargetsiENSG00000107331
PharmGKBiPA24377

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0059, Eukaryota
GeneTreeiENSGT00940000158560
HOGENOMiCLU_000604_19_0_1
InParanoidiQ9BZC7
OrthoDBi131191at2759
PhylomeDBiQ9BZC7
TreeFamiTF105191

Enzyme and pathway databases

PathwayCommonsiQ9BZC7
ReactomeiR-HSA-1369062, ABC transporters in lipid homeostasis

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		20, 7 hits in 842 CRISPR screens

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

More...ChiTaRSi		ABCA2, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ABCA2

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

More...GenomeRNAii		20
PharosiQ9BZC7, Tbio

Protein Ontology

More...PROi		PR:Q9BZC7
RNActiQ9BZC7, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000107331, Expressed in C1 segment of cervical spinal cord and 194 other tissues
ExpressionAtlasiQ9BZC7, baseline and differential
GenevisibleiQ9BZC7, HS

Family and domain databases

InterProiView protein in InterPro
IPR003593, AAA+_ATPase
IPR003439, ABC_transporter-like
IPR017871, ABC_transporter_CS
IPR026082, ABCA
IPR027417, P-loop_NTPase
PANTHERiPTHR19229, PTHR19229, 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

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 nameiABCA2_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: Q9BZC7
Secondary accession number(s): A6NED5
, Q5SPY5, Q5W9G5, Q76MW7, Q9HC28
<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: July 11, 2001
Last sequence update: September 12, 2018
Last modified: December 2, 2020
This is version 168 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 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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