Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
19
Gene name Gene Name - the full gene name approved by the HGNC.
ATP binding cassette subfamily A member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ABCA1
Synonyms (NCBI Gene) Gene synonyms aliases
ABC-1, ABC1, CERP, HDLCQTL13, HDLDT1, HPALP1, TGD
Disease Acronyms (UniProt) Disease acronyms from UniProt database
TGD
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q31.1
Summary Summary of gene provided in NCBI Entrez Gene.
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct s
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs2853574 G>A Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs2853578 T>A,C Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs9282541 G>A Conflicting-interpretations-of-pathogenicity, benign Missense variant, non coding transcript variant, coding sequence variant
rs28933692 C>A,T Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs28937313 T>C Pathogenic Missense variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003672 hsa-miR-33a-5p Luciferase reporter assay 20466885
MIRT003672 hsa-miR-33a-5p Luciferase reporter assay 20466885
MIRT003672 hsa-miR-33a-5p Luciferase reporter assay 20466885
MIRT003672 hsa-miR-33a-5p Luciferase reporter assay 20466882
MIRT003672 hsa-miR-33a-5p Luciferase reporter assay 20466882
Transcription factors
Transcription factor Regulation Reference
FOXA1 Repression 24807696
FOXA2 Repression 24807696
NFKB1 Repression 17135302
NR1H2 Activation 16141411
NR1H3 Activation 11264984;16141411;18580406;19201410
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005102 Function Signaling receptor binding IPI 23931754
GO:0005319 Function Lipid transporter activity IBA 21873635
GO:0005515 Function Protein binding IPI 12084722, 14754908, 15469992, 16192269, 16443932, 23931754, 25170080, 30458687
GO:0005524 Function ATP binding IDA 11700048
GO:0005548 Function Phospholipid transporter activity IGI 28373057
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600046 29 ENSG00000165029
Protein
UniProt ID O95477
Protein name Phospholipid-transporting ATPase ABCA1 (EC 7.6.2.1) (ATP-binding cassette sub-family A member 1) (ATP-binding cassette transporter 1) (ABC-1) (ATP-binding cassette 1) (Cholesterol efflux regulatory protein)
Protein function Catalyzes the translocation of specific phospholipids from the cytoplasmic to the extracellular/lumenal leaflet of membrane coupled to the hydrolysis of ATP (PubMed:24097981, PubMed:35974019). Thereby, participates in phospholipid transfer to ap
PDB 5XJY , 7ROQ , 7TBW , 7TBY , 7TBZ , 7TC0 , 7TDT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12698 ABC2_membrane_3 594 841 Family
PF00005 ABC_tran 916 1061 ABC transporter Domain
PF12698 ABC2_membrane_3 1344 1869 Family
PF00005 ABC_tran 1929 2073 ABC transporter Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, but most abundant in macrophages.
Sequence
MACWPQLRLLLWKNLTFRRRQTCQLLLEVAWPLFIFLILISVRLSYPPYEQHECHFPNKA
MPSAGTLPWVQGIICNANNPCFRYPTPGEAPGVVGNFNKSIVARLFSDARRLLLYSQKDT
SMKDMRKVLRTLQQIKKSSSNLKLQDFLVDNETFSGFLYHNLSLPKSTVDKMLRADVILH
KVFLQGYQLHLTSLCNGSKSEEMIQLGDQEVSELCGLPREKLAAAERVLRSNMDILKPIL
RTLNSTSPFPSKELAEATKTLLHSLGTLAQELFSMRSWSDMRQEVMFLTNVNSSSSSTQI
YQAVSRIVCGHPEGGGLKIKSLNWYEDNNYKALFGGNGTEEDAETFYDNSTTPYCNDLMK
NLESSPLSRIIWKALKPLLVGKILYTPDTPATRQVMAEVNKTFQELAVFHDLEGMWEELS
PKIWTFMENSQEMDLVRMLLDSRDNDHFWEQQLDGLDWTAQDIVAFLAKHPEDVQSSNGS
VYTWREAFNETNQAIRTISRFMECVNLNKLEPIATEVWLINKSMELLDERKFWAGIVFTG
ITPGSIELPHHVKYKIRMDIDNVERTNKIKDGYWDPGPRADPFEDMRYVWGGFAYLQDVV
EQAIIRVLTGTEKKTGVYMQQMPYPCYVDDIFLRVMSRSMPLFMTLAWIYSVAVIIKGIV
YEKEARLKETMRIMGLDNSILWFSWFISSLIPLLVSAGLLVVILKLGNLLPYSDPSVVFV
FLSVFAVVTILQCFLISTLFSRANLAAACGGIIYFTLYLPYVLCVAWQDYVGFTLKIFAS
LLSPVAFGFGCEYFALFEEQGIGVQWDNLFESPVEEDGFNLTTSVSMMLFDTFLYGVMTW
Y
IEAVFPGQYGIPRPWYFPCTKSYWFGEESDEKSHPGSNQKRISEICMEEEPTHLKLGVS
IQNLVKVYRDGMKVAVDGLALNFYEGQITSFLGHNGAGKTTTMSILTGLFPPTSGTAYIL
GKDIRSEMSTIRQNLGVCPQHNVLFDMLTVEEHIWFYARLKGLSEKHVKAEMEQMALDVG
LPSSKLKSKTSQLSGGMQRKLSVALAFVGGSKVVILDEPTA
GVDPYSRRGIWELLLKYRQ
GRTIILSTHHMDEADVLGDRIAIISHGKLCCVGSSLFLKNQLGTGYYLTLVKKDVESSLS
SCRNSSSTVSYLKKEDSVSQSSSDAGLGSDHESDTLTIDVSAISNLIRKHVSEARLVEDI
GHELTYVLPYEAAKEGAFVELFHEIDDRLSDLGISSYGISETTLEEIFLKVAEESGVDAE
TSDGTLPARRNRRAFGDKQSCLRPFTEDDAADPNDSDIDPESRETDLLSGMDGKGSYQVK
GWKLTQQQFVALLWKRLLIARRSRKGFFAQIVLPAVFVCIALVFSLIVPPFGKYPSLELQ
PWMYNEQYTFVSNDAPEDTGTLELLNALTKDPGFGTRCMEGNPIPDTPCQAGEEEWTTAP
VPQTIMDLFQNGNWTMQNPSPACQCSSDKIKKMLPVCPPGAGGLPPPQRKQNTADILQDL
TGRNISDYLVKTYVQIIAKSLKNKIWVNEFRYGGFSLGVSNTQALPPSQEVNDAIKQMKK
HLKLAKDSSADRFLNSLGRFMTGLDTKNNVKVWFNNKGWHAISSFLNVINNAILRANLQK
GENPSHYGITAFNHPLNLTKQQLSEVALMTTSVDVLVSICVIFAMSFVPASFVVFLIQER
VSKAKHLQFISGVKPVIYWLSNFVWDMCNYVVPATLVIIIFICFQQKSYVSSTNLPVLAL
LLLLYGWSITPLMYPASFVFKIPSTAYVVLTSVNLFIGINGSVATFVLELFTDNKLNNIN
DILKSVFLIFPHFCLGRGLIDMVKNQAMADALERFGENRFVSPLSWDLVGRNLFAMAVEG
VVFFLITVL
IQYRFFIRPRPVNAKLSPLNDEDEDVRRERQRILDGGGQNDILEIKELTKI
YRRKRKPAVDRICVGIPPGECFGLLGVNGAGKSSTFKMLTGDTTVTRGDAFLNKNSILSN
IHEVHQNMGYCPQFDAITELLTGREHVEFFALLRGVPEKEVGKVGEWAIRKLGLVKYGEK
YAGNYSGGNKRKLSTAMALIGGPPVVFLDEPTT
GMDPKARRFLWNCALSVVKEGRSVVLT
SHSMEECEALCTRMAIMVNGRFRCLGSVQHLKNRFGDGYTIVVRIAGSNPDLKPVQDFFG
LAFPGSVLKEKHRNMLQYQLPSSLSSLARIFSILSQSKKRLHIEDYSVSQTTLDQVFVNF
AKDQSDDDHLKDLSLHKNQTVVDVAVLTSFLQDEKVKESYV
Sequence length 2261
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Hypoalphalipoproteinemia hypoalphalipoproteinemia, primary, 1 GenCC
Apolipoprotein A1 Deficiency apolipoprotein A-I deficiency GenCC
Tangier Disease Tangier disease GenCC
Metabolic Syndrome Metabolic Syndrome GWAS
Associations from Text Mining
Disease Name Relationship Type References
ACTH Secreting Pituitary Adenoma Inhibit 26204136
Acute Coronary Syndrome Associate 34151742
Adenocarcinoma of Lung Associate 31795847, 37985446
Alagille Syndrome Associate 15210845
Alzheimer Disease Associate 17324514, 19606474, 20079340, 20571217, 23181436, 28943632, 29605487, 31167810, 34757660, 35361255, 36411364, 36889459, 37204126, 37598468
Anemia Associate 25881102
Anemia Sickle Cell Associate 28436274
Aortic Aneurysm Abdominal Associate 26774504
Asthma Associate 18820007
Atherosclerosis Associate 12624133, 12700342, 15001567, 16311343, 17412755, 17553166, 17587765, 19019193, 19287193, 20057170, 20185793, 21070853, 21130966, 21835924, 22363809
View all (16 more)