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Protein

ATP-binding cassette sub-family A member 1

Gene

ABCA1

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

cAMP-dependent and sulfonylurea-sensitive anion transporter. Involved in the efflux of intracellular cholesterol and phospholipids and their transfer to apoliproteins to form nascent high density lipoproteins/HDLs.2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 bindingi933 – 940ATP 1PROSITE-ProRule annotation8
Nucleotide bindingi1946 – 1953ATP 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

Biological processCholesterol metabolism, Lipid metabolism, Steroid metabolism, Sterol metabolism, Transport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1989781 PPARA activates gene expression
R-HSA-5682113 Defective ABCA1 causes Tangier disease
R-HSA-8963896 HDL assembly

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

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SignaLinki
O95477

SIGNOR Signaling Network Open Resource

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SIGNORi
O95477

Protein family/group databases

Transport Classification Database

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TCDBi
3.A.1.211.14 the atp-binding cassette (abc) superfamily

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000000345

<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_and_taxonomy_section">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 1
Alternative name(s):
ATP-binding cassette transporter 1
Short name:
ABC-1
Short name:
ATP-binding cassette 1
Cholesterol efflux regulatory protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:ABCA1
Synonyms:ABC1, CERP
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 Database Resources

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EuPathDBi
HostDB:ENSG00000165029.15

Human Gene Nomenclature Database

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HGNCi
HGNC:29 ABCA1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
600046 gene+phenotype

neXtProt; the human protein knowledge platform

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neXtProti
NX_O95477

<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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini43 – 639ExtracellularAdd BLAST597
Transmembranei640 – 660HelicalSequence analysisAdd BLAST21
Transmembranei683 – 703HelicalSequence analysisAdd BLAST21
Transmembranei716 – 736HelicalSequence analysisAdd BLAST21
Transmembranei745 – 765HelicalSequence analysisAdd BLAST21
Transmembranei777 – 797HelicalSequence analysisAdd BLAST21
Transmembranei827 – 847HelicalSequence analysisAdd BLAST21
Transmembranei1041 – 1057HelicalSequence analysisAdd BLAST17
Transmembranei1351 – 1371HelicalSequence analysisAdd BLAST21
Topological domaini1372 – 1656ExtracellularAdd BLAST285
Transmembranei1657 – 1677HelicalSequence analysisAdd BLAST21
Transmembranei1703 – 1723HelicalSequence analysisAdd BLAST21
Transmembranei1735 – 1755HelicalSequence analysisAdd BLAST21
Transmembranei1768 – 1788HelicalSequence analysisAdd BLAST21
Transmembranei1802 – 1822HelicalSequence analysisAdd BLAST21
Transmembranei1852 – 1872HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

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

High density lipoprotein deficiency 1 (HDLD1)19 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRecessive disorder characterized by absence of high density lipoprotein (HDL) cholesterol from plasma, accumulation of cholesteryl esters, premature coronary artery disease (CAD), hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness.
See also OMIM:205400
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_012620255A → T in HDLD1; deficient cellular cholesterol efflux. 1 PublicationCorresponds to variant dbSNP:rs758100110Ensembl.1
Natural variantiVAR_062482284E → K in HDLD1. 1 Publication1
Natural variantiVAR_062485482Y → C in HDLD1. 1 Publication1
Natural variantiVAR_009146587R → W in HDLD1. 1 PublicationCorresponds to variant dbSNP:rs2853574Ensembl.1
Natural variantiVAR_062487590W → L in HDLD1. 2 PublicationsCorresponds to variant dbSNP:rs137854496EnsemblClinVar.1
Natural variantiVAR_009147590W → S in HDLD1. 2 PublicationsCorresponds to variant dbSNP:rs137854496EnsemblClinVar.1
Natural variantiVAR_009148597Q → R in HDLD1. 2 PublicationsCorresponds to variant dbSNP:rs2853578EnsemblClinVar.1
Natural variantiVAR_062491840W → R in HDLD1. 1 Publication1
Natural variantiVAR_012626929T → I in HDLD1. 1 Publication1
Natural variantiVAR_037968935N → H in HDLD1. 1 PublicationCorresponds to variant dbSNP:rs28937314EnsemblClinVar.1
Natural variantiVAR_009150935N → S in HDLD1. 2 PublicationsCorresponds to variant dbSNP:rs28937313EnsemblClinVar.1
Natural variantiVAR_009151937A → V in HDLD1. 1 PublicationCorresponds to variant dbSNP:rs137854495EnsemblClinVar.1
Natural variantiVAR_0126271046A → D in HDLD1. 1 PublicationCorresponds to variant dbSNP:rs141021096Ensembl.1
Natural variantiVAR_0624931068R → C in HDLD1. 1 PublicationCorresponds to variant dbSNP:rs745593394Ensembl.1
Natural variantiVAR_0091521289D → N in HDLD1. 2 PublicationsCorresponds to variant dbSNP:rs137854500EnsemblClinVar.1
Natural variantiVAR_0624971379L → F in HDLD1; the mutant protein is retained in the endoplasmic reticulum while the wild-type protein is located at the plasma membrane. 1 Publication1
Natural variantiVAR_0091531477C → R in HDLD1; loss of interaction with APOE; unable to generate APOE-containing high density lipoproteins. 3 PublicationsCorresponds to variant dbSNP:rs137854494EnsemblClinVar.1
Natural variantiVAR_0126301506S → L in HDLD1. 1 PublicationCorresponds to variant dbSNP:rs137854497EnsemblClinVar.1
Natural variantiVAR_0091541517I → R in HDLD1. 1
Natural variantiVAR_0379701680R → W in HDLD1. 1 PublicationCorresponds to variant dbSNP:rs137854498EnsemblClinVar.1
Natural variantiVAR_0625011704V → D in HDLD1; the mutant protein is retained in the endoplasmic reticulum while the wild-type protein is located at the plasma membrane. 1 Publication1
Natural variantiVAR_0091551800N → H in HDLD1. 4 PublicationsCorresponds to variant dbSNP:rs146292819EnsemblClinVar.1
Natural variantiVAR_0625021851R → Q in HDLD1. 1 PublicationCorresponds to variant dbSNP:rs1055285452Ensembl.1
Natural variantiVAR_0625041901R → S in HDLD1. 1 Publication1
Natural variantiVAR_0126352081R → W in HDLD1. 1 PublicationCorresponds to variant dbSNP:rs137854501EnsemblClinVar.1
Natural variantiVAR_0625072196Q → H in HDLD1. 1 PublicationCorresponds to variant dbSNP:rs564764153Ensembl.1
High density lipoprotein deficiency 2 (HDLD2)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionInherited as autosomal dominant trait. It is characterized by moderately low HDL cholesterol, predilection toward premature coronary artery disease (CAD) and a reduction in cellular cholesterol efflux.
See also OMIM:604091
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01752985P → L in HDLD2; Alabama. 1 PublicationCorresponds to variant dbSNP:rs145183203EnsemblClinVar.1
Natural variantiVAR_009149693Missing in HDLD2. 2 Publications1
Natural variantiVAR_0126281091M → T in HDLD2. 2 Publications1
Natural variantiVAR_0175301099D → Y in HDLD2. 1 PublicationCorresponds to variant dbSNP:rs28933692EnsemblClinVar.1
Natural variantiVAR_0126341893 – 1894Missing in HDLD2. 2 Publications2
Natural variantiVAR_0625031897R → W in HDLD2; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs760768125Ensembl.1
Natural variantiVAR_0379712009F → S in HDLD2. 1 PublicationCorresponds to variant dbSNP:rs137854499EnsemblClinVar.1
Natural variantiVAR_0126362150P → L in HDLD2. 1 PublicationCorresponds to variant dbSNP:rs369098049Ensembl.1

Keywords - Diseasei

Atherosclerosis, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
19

MalaCards human disease database

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MalaCardsi
ABCA1
MIMi205400 phenotype
600046 gene+phenotype
604091 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000165029

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
425 Apolipoprotein A-I deficiency
31150 Tangier disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24373

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2362986

Drug and drug target database

More...
DrugBanki
DB00171 Adenosine triphosphate
DB01016 Glyburide
DB01599 Probucol

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ABCA1

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000932881 – 2261ATP-binding cassette sub-family A member 1Add BLAST2261

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi3S-palmitoyl cysteine1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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
Lipidationi23S-palmitoyl cysteine1 Publication1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi75 ↔ 3091 Publication
Glycosylationi98N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi151N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi161N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi196N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi244N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi292N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi337N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi349N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi400N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi478N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi489N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi521N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi820N-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 residuei1042Phosphoserine; by PKA1 Publication1
Lipidationi1110S-palmitoyl cysteine1 Publication1
Lipidationi1111S-palmitoyl cysteine1 Publication1
Glycosylationi1144N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1294N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei1296PhosphoserineBy similarity1
Glycosylationi1453N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1463 ↔ 14771 Publication
Glycosylationi1504N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1637N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2044N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei2054Phosphoserine; by PKA1 Publication1
Glycosylationi2238N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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

Phosphorylation on Ser-2054 regulates phospholipid efflux.1 Publication
Palmitoylation by DHHC8 is essential for membrane localization.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Lipoprotein, Palmitate, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O95477

MaxQB - The MaxQuant DataBase

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MaxQBi
O95477

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

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PaxDbi
O95477

PeptideAtlas

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PeptideAtlasi
O95477

PRoteomics IDEntifications database

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PRIDEi
O95477

ProteomicsDB human proteome resource

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ProteomicsDBi
50908

PTM databases

GlyConnect protein glycosylation platform

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GlyConnecti
1020

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O95477

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

More...
PhosphoSitePlusi
O95477

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
O95477

<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, but most abundant in macrophages.

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By bacterial lipopolysaccharides (LPS). LPS regulates expression through a liver X receptor (LXR) -independent mechanism. Repressed by ZNF202.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000165029 Expressed in 222 organ(s), highest expression level in liver

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O95477 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O95477 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB069889
HPA057283

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with MEGF10 (PubMed:17205124). May interact with APOE1; functionally associated with APOE1 in the biogenesis of HDLs (PubMed:14754908).2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
106537, 24 interactors

Database of interacting proteins

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DIPi
DIP-29211N

Protein interaction database and analysis system

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IntActi
O95477, 29 interactors

Molecular INTeraction database

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MINTi
O95477

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000363868

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
O95477

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

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SMRi
O95477

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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_and_domains_section">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>Domaini899 – 1131ABC transporter 1PROSITE-ProRule annotationAdd BLAST233
Domaini1912 – 2144ABC transporter 2PROSITE-ProRule annotationAdd BLAST233

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.

<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

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eggNOGi
KOG0059 Eukaryota
COG1131 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154658

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG050436

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O95477

KEGG Orthology (KO)

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KOi
K05641

Identification of Orthologs from Complete Genome Data

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OMAi
NGNWTME

Database of Orthologous Groups

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OrthoDBi
EOG091G007E

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O95477

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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

O95477-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MACWPQLRLL LWKNLTFRRR QTCQLLLEVA WPLFIFLILI SVRLSYPPYE
60 70 80 90 100
QHECHFPNKA MPSAGTLPWV QGIICNANNP CFRYPTPGEA PGVVGNFNKS
110 120 130 140 150
IVARLFSDAR RLLLYSQKDT SMKDMRKVLR TLQQIKKSSS NLKLQDFLVD
160 170 180 190 200
NETFSGFLYH NLSLPKSTVD KMLRADVILH KVFLQGYQLH LTSLCNGSKS
210 220 230 240 250
EEMIQLGDQE VSELCGLPRE KLAAAERVLR SNMDILKPIL RTLNSTSPFP
260 270 280 290 300
SKELAEATKT LLHSLGTLAQ ELFSMRSWSD MRQEVMFLTN VNSSSSSTQI
310 320 330 340 350
YQAVSRIVCG HPEGGGLKIK SLNWYEDNNY KALFGGNGTE EDAETFYDNS
360 370 380 390 400
TTPYCNDLMK NLESSPLSRI IWKALKPLLV GKILYTPDTP ATRQVMAEVN
410 420 430 440 450
KTFQELAVFH DLEGMWEELS PKIWTFMENS QEMDLVRMLL DSRDNDHFWE
460 470 480 490 500
QQLDGLDWTA QDIVAFLAKH PEDVQSSNGS VYTWREAFNE TNQAIRTISR
510 520 530 540 550
FMECVNLNKL EPIATEVWLI NKSMELLDER KFWAGIVFTG ITPGSIELPH
560 570 580 590 600
HVKYKIRMDI DNVERTNKIK DGYWDPGPRA DPFEDMRYVW GGFAYLQDVV
610 620 630 640 650
EQAIIRVLTG TEKKTGVYMQ QMPYPCYVDD IFLRVMSRSM PLFMTLAWIY
660 670 680 690 700
SVAVIIKGIV YEKEARLKET MRIMGLDNSI LWFSWFISSL IPLLVSAGLL
710 720 730 740 750
VVILKLGNLL PYSDPSVVFV FLSVFAVVTI LQCFLISTLF SRANLAAACG
760 770 780 790 800
GIIYFTLYLP YVLCVAWQDY VGFTLKIFAS LLSPVAFGFG CEYFALFEEQ
810 820 830 840 850
GIGVQWDNLF ESPVEEDGFN LTTSVSMMLF DTFLYGVMTW YIEAVFPGQY
860 870 880 890 900
GIPRPWYFPC TKSYWFGEES DEKSHPGSNQ KRISEICMEE EPTHLKLGVS
910 920 930 940 950
IQNLVKVYRD GMKVAVDGLA LNFYEGQITS FLGHNGAGKT TTMSILTGLF
960 970 980 990 1000
PPTSGTAYIL GKDIRSEMST IRQNLGVCPQ HNVLFDMLTV EEHIWFYARL
1010 1020 1030 1040 1050
KGLSEKHVKA EMEQMALDVG LPSSKLKSKT SQLSGGMQRK LSVALAFVGG
1060 1070 1080 1090 1100
SKVVILDEPT AGVDPYSRRG IWELLLKYRQ GRTIILSTHH MDEADVLGDR
1110 1120 1130 1140 1150
IAIISHGKLC CVGSSLFLKN QLGTGYYLTL VKKDVESSLS SCRNSSSTVS
1160 1170 1180 1190 1200
YLKKEDSVSQ SSSDAGLGSD HESDTLTIDV SAISNLIRKH VSEARLVEDI
1210 1220 1230 1240 1250
GHELTYVLPY EAAKEGAFVE LFHEIDDRLS DLGISSYGIS ETTLEEIFLK
1260 1270 1280 1290 1300
VAEESGVDAE TSDGTLPARR NRRAFGDKQS CLRPFTEDDA ADPNDSDIDP
1310 1320 1330 1340 1350
ESRETDLLSG MDGKGSYQVK GWKLTQQQFV ALLWKRLLIA RRSRKGFFAQ
1360 1370 1380 1390 1400
IVLPAVFVCI ALVFSLIVPP FGKYPSLELQ PWMYNEQYTF VSNDAPEDTG
1410 1420 1430 1440 1450
TLELLNALTK DPGFGTRCME GNPIPDTPCQ AGEEEWTTAP VPQTIMDLFQ
1460 1470 1480 1490 1500
NGNWTMQNPS PACQCSSDKI KKMLPVCPPG AGGLPPPQRK QNTADILQDL
1510 1520 1530 1540 1550
TGRNISDYLV KTYVQIIAKS LKNKIWVNEF RYGGFSLGVS NTQALPPSQE
1560 1570 1580 1590 1600
VNDAIKQMKK HLKLAKDSSA DRFLNSLGRF MTGLDTKNNV KVWFNNKGWH
1610 1620 1630 1640 1650
AISSFLNVIN NAILRANLQK GENPSHYGIT AFNHPLNLTK QQLSEVALMT
1660 1670 1680 1690 1700
TSVDVLVSIC VIFAMSFVPA SFVVFLIQER VSKAKHLQFI SGVKPVIYWL
1710 1720 1730 1740 1750
SNFVWDMCNY VVPATLVIII FICFQQKSYV SSTNLPVLAL LLLLYGWSIT
1760 1770 1780 1790 1800
PLMYPASFVF KIPSTAYVVL TSVNLFIGIN GSVATFVLEL FTDNKLNNIN
1810 1820 1830 1840 1850
DILKSVFLIF PHFCLGRGLI DMVKNQAMAD ALERFGENRF VSPLSWDLVG
1860 1870 1880 1890 1900
RNLFAMAVEG VVFFLITVLI QYRFFIRPRP VNAKLSPLND EDEDVRRERQ
1910 1920 1930 1940 1950
RILDGGGQND ILEIKELTKI YRRKRKPAVD RICVGIPPGE CFGLLGVNGA
1960 1970 1980 1990 2000
GKSSTFKMLT GDTTVTRGDA FLNKNSILSN IHEVHQNMGY CPQFDAITEL
2010 2020 2030 2040 2050
LTGREHVEFF ALLRGVPEKE VGKVGEWAIR KLGLVKYGEK YAGNYSGGNK
2060 2070 2080 2090 2100
RKLSTAMALI GGPPVVFLDE PTTGMDPKAR RFLWNCALSV VKEGRSVVLT
2110 2120 2130 2140 2150
SHSMEECEAL CTRMAIMVNG RFRCLGSVQH LKNRFGDGYT IVVRIAGSNP
2160 2170 2180 2190 2200
DLKPVQDFFG LAFPGSVLKE KHRNMLQYQL PSSLSSLARI FSILSQSKKR
2210 2220 2230 2240 2250
LHIEDYSVSQ TTLDQVFVNF AKDQSDDDHL KDLSLHKNQT VVDVAVLTSF
2260
LQDEKVKESY V
Length:2,261
Mass (Da):254,302
Last modified:October 5, 2010 - 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:i21A2CF8F3F518D6D
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1AMI2B1AMI2_HUMAN
ATP-binding cassette sub-family A m...
ABCA1 hCG_1789838
363Annotation 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>
B1AMI1B1AMI1_HUMAN
ATP-binding cassette sub-family A m...
ABCA1
123Annotation 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 AAD49849 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAA10005 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

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 conflicti793Y → C in AAK43526 (PubMed:11352567).Curated1
Sequence conflicti831D → N in AAK43526 (PubMed:11352567).Curated1
Sequence conflicti1005E → K in AAK43526 (PubMed:11352567).Curated1
Sequence conflicti1745 – 1746Missing in AAD49852 (PubMed:10431238).Curated2

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Genetic variations in ABCA1 define the high density lipoprotein cholesterol level quantitative trait locus 13 (HDLCQ13) [MIMi:600046].1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01752985P → L in HDLD2; Alabama. 1 PublicationCorresponds to variant dbSNP:rs145183203EnsemblClinVar.1
Natural variantiVAR_035724210E → D in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_012618219R → K Common polymorphism; associated with a decreased severity of CAD. 7 PublicationsCorresponds to variant dbSNP:rs2230806EnsemblClinVar.1
Natural variantiVAR_012619230R → C2 PublicationsCorresponds to variant dbSNP:rs9282541EnsemblClinVar.1
Natural variantiVAR_062481248P → A1 PublicationCorresponds to variant dbSNP:rs142625938Ensembl.1
Natural variantiVAR_012620255A → T in HDLD1; deficient cellular cholesterol efflux. 1 PublicationCorresponds to variant dbSNP:rs758100110Ensembl.1
Natural variantiVAR_062482284E → K in HDLD1. 1 Publication1
Natural variantiVAR_062483364S → C1 PublicationCorresponds to variant dbSNP:rs775035559Ensembl.1
Natural variantiVAR_009145399V → A2 PublicationsCorresponds to variant dbSNP:rs9282543EnsemblClinVar.1
Natural variantiVAR_062484401K → Q1 PublicationCorresponds to variant dbSNP:rs138487227Ensembl.1
Natural variantiVAR_062485482Y → C in HDLD1. 1 Publication1
Natural variantiVAR_062486496R → W Associated with increased plasma HDL cholesterol. 1 PublicationCorresponds to variant dbSNP:rs147675550EnsemblClinVar.1
Natural variantiVAR_009146587R → W in HDLD1. 1 PublicationCorresponds to variant dbSNP:rs2853574Ensembl.1
Natural variantiVAR_062487590W → L in HDLD1. 2 PublicationsCorresponds to variant dbSNP:rs137854496EnsemblClinVar.1
Natural variantiVAR_009147590W → S in HDLD1. 2 PublicationsCorresponds to variant dbSNP:rs137854496EnsemblClinVar.1
Natural variantiVAR_009148597Q → R in HDLD1. 2 PublicationsCorresponds to variant dbSNP:rs2853578EnsemblClinVar.1
Natural variantiVAR_062488638R → Q Associated with reduced plasma HDL cholesterol. 1 PublicationCorresponds to variant dbSNP:rs374190304EnsemblClinVar.1
Natural variantiVAR_009149693Missing in HDLD2. 2 Publications1
Natural variantiVAR_012621771V → M Associated with HDL cholesterol. 4 PublicationsCorresponds to variant dbSNP:rs2066718EnsemblClinVar.1
Natural variantiVAR_012622774T → P2 PublicationsCorresponds to variant dbSNP:rs35819696EnsemblClinVar.1
Natural variantiVAR_062489774T → S1 Publication1
Natural variantiVAR_012623776K → N May be associated with increased risk of ischemic heart disease. 3 PublicationsCorresponds to variant dbSNP:rs138880920EnsemblClinVar.1
Natural variantiVAR_062490815E → G Associated with reduced plasma HDL cholesterol. 1 PublicationCorresponds to variant dbSNP:rs145582736Ensembl.1
Natural variantiVAR_012624825V → I Associated with higher plasma cholesterol. 5 PublicationsCorresponds to variant dbSNP:rs2066715EnsemblClinVar.1
Natural variantiVAR_062491840W → R in HDLD1. 1 Publication1
Natural variantiVAR_012625883I → M Associated with higher plasma cholesterol. 7 PublicationsCorresponds to variant dbSNP:rs2066714EnsemblClinVar.1
Natural variantiVAR_035725917D → Y in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_012626929T → I in HDLD1. 1 Publication1
Natural variantiVAR_037968935N → H in HDLD1. 1 PublicationCorresponds to variant dbSNP:rs28937314EnsemblClinVar.1
Natural variantiVAR_009150935N → S in HDLD1. 2 PublicationsCorresponds to variant dbSNP:rs28937313EnsemblClinVar.1
Natural variantiVAR_009151937A → V in HDLD1. 1 PublicationCorresponds to variant dbSNP:rs137854495EnsemblClinVar.1
Natural variantiVAR_0126271046A → D in HDLD1. 1 PublicationCorresponds to variant dbSNP:rs141021096Ensembl.1
Natural variantiVAR_0379691054V → I. Corresponds to variant dbSNP:rs13306072Ensembl.1
Natural variantiVAR_0624921065P → S1 Publication1
Natural variantiVAR_0624931068R → C in HDLD1. 1 PublicationCorresponds to variant dbSNP:rs745593394Ensembl.1
Natural variantiVAR_0126281091M → T in HDLD2. 2 Publications1
Natural variantiVAR_0175301099D → Y in HDLD2. 1 PublicationCorresponds to variant dbSNP:rs28933692EnsemblClinVar.1
Natural variantiVAR_0126291172E → D Associated with premature coronary heart disease. 4 PublicationsCorresponds to variant dbSNP:rs33918808EnsemblClinVar.1
Natural variantiVAR_0170161181S → F Associated with reduced plasma HDL cholesterol. 2 PublicationsCorresponds to variant dbSNP:rs76881554EnsemblClinVar.1
Natural variantiVAR_0624941216G → V1 PublicationCorresponds to variant dbSNP:rs562403512Ensembl.1
Natural variantiVAR_0091521289D → N in HDLD1. 2 PublicationsCorresponds to variant dbSNP:rs137854500EnsemblClinVar.1
Natural variantiVAR_0624951341R → T Associated with reduced plasma HDL cholesterol. 1 PublicationCorresponds to variant dbSNP:rs147743782Ensembl.1
Natural variantiVAR_0624961376S → G1 PublicationCorresponds to variant dbSNP:rs145689805Ensembl.1
Natural variantiVAR_0624971379L → F in HDLD1; the mutant protein is retained in the endoplasmic reticulum while the wild-type protein is located at the plasma membrane. 1 Publication1
Natural variantiVAR_0357261407A → T in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs189206655Ensembl.1
Natural variantiVAR_0091531477C → R in HDLD1; loss of interaction with APOE; unable to generate APOE-containing high density lipoproteins. 3 PublicationsCorresponds to variant dbSNP:rs137854494EnsemblClinVar.1
Natural variantiVAR_0126301506S → L in HDLD1. 1 PublicationCorresponds to variant dbSNP:rs137854497EnsemblClinVar.1
Natural variantiVAR_0091541517I → R in HDLD1. 1
Natural variantiVAR_0126381555I → T2 PublicationsCorresponds to variant dbSNP:rs1997618Ensembl.1
Natural variantiVAR_0126311587K → R Associated with HDL cholesterol. 9 PublicationsCorresponds to variant dbSNP:rs2230808EnsemblClinVar.1
Natural variantiVAR_0126321611N → D Probable disease-associated mutation; associated with atherosclerosis; deficient cellular cholesterol efflux. 1 Publication1
Natural variantiVAR_0624981615R → Q Associated with reduced plasma HDL cholesterol. 1 Publication1
Natural variantiVAR_0126391648L → P2 PublicationsCorresponds to variant dbSNP:rs1883024Ensembl.1
Natural variantiVAR_0624991670A → T Associated with reduced plasma HDL cholesterol. 1 Publication1
Natural variantiVAR_0625001680R → Q Associated with increased plasma HDL cholesterol. 1 PublicationCorresponds to variant dbSNP:rs150125857EnsemblClinVar.1
Natural variantiVAR_0379701680R → W in HDLD1. 1 PublicationCorresponds to variant dbSNP:rs137854498EnsemblClinVar.1
Natural variantiVAR_0625011704V → D in HDLD1; the mutant protein is retained in the endoplasmic reticulum while the wild-type protein is located at the plasma membrane. 1 Publication1
Natural variantiVAR_0126331731S → C1 PublicationCorresponds to variant dbSNP:rs760507032Ensembl.1
Natural variantiVAR_0091551800N → H in HDLD1. 4 PublicationsCorresponds to variant dbSNP:rs146292819EnsemblClinVar.1
Natural variantiVAR_0625021851R → Q in HDLD1. 1 PublicationCorresponds to variant dbSNP:rs1055285452Ensembl.1
Natural variantiVAR_0126341893 – 1894Missing in HDLD2. 2 Publications2
Natural variantiVAR_0625031897R → W in HDLD2; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs760768125Ensembl.1
Natural variantiVAR_0625041901R → S in HDLD1. 1 Publication1
Natural variantiVAR_0625051925R → Q in Scott syndrome; shows impaired trafficking of the mutant protein to the plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs142688906EnsemblClinVar.1
Natural variantiVAR_0379712009F → S in HDLD2. 1 PublicationCorresponds to variant dbSNP:rs137854499EnsemblClinVar.1
Natural variantiVAR_0126352081R → W in HDLD1. 1 PublicationCorresponds to variant dbSNP:rs137854501EnsemblClinVar.1
Natural variantiVAR_0357272109A → T in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0126362150P → L in HDLD2. 1 PublicationCorresponds to variant dbSNP:rs369098049Ensembl.1
Natural variantiVAR_0625062163F → S Could be associated with reduced plasma HDL cholesterol. 1 Publication1
Natural variantiVAR_0126372168L → P3 PublicationsCorresponds to variant dbSNP:rs2853577Ensembl.1
Natural variantiVAR_0625072196Q → H in HDLD1. 1 PublicationCorresponds to variant dbSNP:rs564764153Ensembl.1
Natural variantiVAR_0625082243D → E1 PublicationCorresponds to variant dbSNP:rs34879708EnsemblClinVar.1
Natural variantiVAR_0625092244V → I Could be associated with reduced plasma HDL cholesterol. 1 PublicationCorresponds to variant dbSNP:rs144588452Ensembl.1

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
AF275948 Genomic DNA Translation: AAF86276.1
AL353685 Genomic DNA No translation available.
AL359846 Genomic DNA No translation available.
AF285167 mRNA Translation: AAF98175.1
AF287262 Genomic DNA Translation: AAK43526.1
AB055982 mRNA Translation: BAB63210.1
AJ012376 mRNA Translation: CAA10005.1 Different initiation.
AF165281 mRNA Translation: AAD49849.1 Different initiation.
AF165286
, AF165282, AF165283, AF165284, AF165285 Genomic DNA Translation: AAD49851.1
AF165306
, AF165287, AF165288, AF165289, AF165290, AF165291, AF165292, AF165293, AF165294, AF165295, AF165296, AF165297, AF165298, AF165299, AF165300, AF165301, AF165302, AF165303, AF165304, AF165305 Genomic DNA Translation: AAD49852.1
AF165309, AF165307, AF165308 Genomic DNA Translation: AAD49854.1
AF165310 Genomic DNA Translation: AAD49853.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS6762.1

NCBI Reference Sequences

More...
RefSeqi
NP_005493.2, NM_005502.3

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.659274

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000374736; ENSP00000363868; ENSG00000165029

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
19

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:19

UCSC genome browser

More...
UCSCi
uc004bcl.4 human

Keywords - Coding sequence diversityi

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_references_section">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

SHMPD

The Singapore human mutation and polymorphism database

ABCMdb

Database for mutations in ABC proteins

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF275948 Genomic DNA Translation: AAF86276.1
AL353685 Genomic DNA No translation available.
AL359846 Genomic DNA No translation available.
AF285167 mRNA Translation: AAF98175.1
AF287262 Genomic DNA Translation: AAK43526.1
AB055982 mRNA Translation: BAB63210.1
AJ012376 mRNA Translation: CAA10005.1 Different initiation.
AF165281 mRNA Translation: AAD49849.1 Different initiation.
AF165286
, AF165282, AF165283, AF165284, AF165285 Genomic DNA Translation: AAD49851.1
AF165306
, AF165287, AF165288, AF165289, AF165290, AF165291, AF165292, AF165293, AF165294, AF165295, AF165296, AF165297, AF165298, AF165299, AF165300, AF165301, AF165302, AF165303, AF165304, AF165305 Genomic DNA Translation: AAD49852.1
AF165309, AF165307, AF165308 Genomic DNA Translation: AAD49854.1
AF165310 Genomic DNA Translation: AAD49853.1
CCDSiCCDS6762.1
RefSeqiNP_005493.2, NM_005502.3
UniGeneiHs.659274

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5XJYelectron microscopy4.10A1-2261[»]
ProteinModelPortaliO95477
SMRiO95477
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106537, 24 interactors
DIPiDIP-29211N
IntActiO95477, 29 interactors
MINTiO95477
STRINGi9606.ENSP00000363868

Chemistry databases

ChEMBLiCHEMBL2362986
DrugBankiDB00171 Adenosine triphosphate
DB01016 Glyburide
DB01599 Probucol
SwissLipidsiSLP:000000345

Protein family/group databases

TCDBi3.A.1.211.14 the atp-binding cassette (abc) superfamily

PTM databases

GlyConnecti1020
iPTMnetiO95477
PhosphoSitePlusiO95477
SwissPalmiO95477

Polymorphism and mutation databases

BioMutaiABCA1

Proteomic databases

EPDiO95477
MaxQBiO95477
PaxDbiO95477
PeptideAtlasiO95477
PRIDEiO95477
ProteomicsDBi50908

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000374736; ENSP00000363868; ENSG00000165029
GeneIDi19
KEGGihsa:19
UCSCiuc004bcl.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
19
DisGeNETi19
EuPathDBiHostDB:ENSG00000165029.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ABCA1
HGNCiHGNC:29 ABCA1
HPAiCAB069889
HPA057283
MalaCardsiABCA1
MIMi205400 phenotype
600046 gene+phenotype
604091 phenotype
neXtProtiNX_O95477
OpenTargetsiENSG00000165029
Orphaneti425 Apolipoprotein A-I deficiency
31150 Tangier disease
PharmGKBiPA24373

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0059 Eukaryota
COG1131 LUCA
GeneTreeiENSGT00940000154658
HOVERGENiHBG050436
InParanoidiO95477
KOiK05641
OMAiNGNWTME
OrthoDBiEOG091G007E
PhylomeDBiO95477
TreeFamiTF105191

Enzyme and pathway databases

ReactomeiR-HSA-1989781 PPARA activates gene expression
R-HSA-5682113 Defective ABCA1 causes Tangier disease
R-HSA-8963896 HDL assembly
SignaLinkiO95477
SIGNORiO95477

Miscellaneous databases

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

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ChiTaRSi
ABCA1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ABCA1

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

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GenomeRNAii
19

Protein Ontology

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PROi
PR:O95477

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000165029 Expressed in 222 organ(s), highest expression level in liver
ExpressionAtlasiO95477 baseline and differential
GenevisibleiO95477 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

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ProtoNeti
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<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 nameiABCA1_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: O95477
Secondary accession number(s): Q5VX33
, Q96S56, Q96T85, Q9NQV4, Q9UN06, Q9UN07, Q9UN08, Q9UN09
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: October 5, 2010
Last modified: December 5, 2018
This is version 203 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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