ABCA1 Gene
protein-coding GIFtS : 69
GCID: GC09 M107543
ATP-binding cassette, sub-family A (ABC1), member 1 (Previous symbols: ABC1, HDLDT1 )
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Aliasesfor ABCA1 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases ATP-Binding Cassette, Sub-Family A (ABC1), Member 1 1 2 ATP-Binding Cassette Transporter A12 ABC11 2 3 5 Membrane-Bound1 HDLDT11 2 5 ATP-Binding Cassette 13 TGD1 2 5 ATP-Binding Cassette Transporter 13 Cholesterol Efflux Regulatory Protein2 3 EC 2.7.7.88 ABC-12 3 EC 2.8.1.88 CERP2 3 EC 3.6.38 ATP-Binding Cassette Sub-Family A Member 12 EC 3.6.3.418
Export aliases for ABCA1 gene to outside databases Previous GC identifers: GC09M098343 GC09M099286 GC09M101000 GC09M102923 GC09M104622 GC09M106583 GC09M077145
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Summariesfor ABCA1 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for ABCA1 : 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 subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: ABCA1_HUMAN, O95477 Function : cAMP-dependent and sulfonylurea-sensitive anion transporter. Key gatekeeper influencing intracellularcholesterol transport Gene Wiki entry for ABCA1
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Genomic Viewsfor ABCA1 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000009.11 NC_018920.1 NT_008470.19 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the ABCA1 gene promoter: CREB STAT1 Sp1 AP-1 ATF-2 deltaCREB c-Jun Other transcription factors Search SABiosciences Chromatin IP Primers for ABCA1 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat ABCA1
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 9q31.1 Ensembl cytogenetic band: 9q31.1 HGNC cytogenetic band: 9q31 ABCA1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 9 GeneLoc Exon Structure
GeneLoc location for GC09M107543: view genomic region
(about GC identifiers )
Start:
107,543,283 bp from pter
End:
107,690,518 bp from pter
Size:
147,236 bases
Orientation:
minus strand
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Proteinsfor ABCA1 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: ABCA1_HUMAN, O95477 (See
protein sequence )Recommended Name: ATP-binding cassette sub-family A member 1 Size : 2261 amino acids; 254302 Da
Subunit : Interacts with MEGF10
Subcellular location : Membrane; Multi-pass membrane protein
Sequence caution : Sequence=AAD49849.1; Type=Erroneous initiation; Note=Translation N-terminally extended;Sequence=CAA10005.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions : Q5VX33 Q96S56 Q96T85 Q9NQV4 Q9UN06 Q9UN07 Q9UN08 Q9UN09Explore the universe of human proteins at neXtProt for ABCA1: NX_O95477 Post-translational modifications:
Phosphorylation on Ser-2054 regulates phospholipid efflux1
Palmitoylation by DHHC8 is essential for membrane localization1
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_O95477 4/5 DME Specific Peptides for ABCA1 (O95477 ) (see all 5 )ABCA1 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_005493.2 ENSEMBL proteins: ENSP00000363868 ENSP00000416623 ENSP00000363865 Reactome Protein details: O95477 Human Recombinant Protein Products: Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9 ): About this table
ABCA1 for ontologies About GeneDecksing ABCA1 Antibody Products: Assay Products for ABCA1:
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Protein
Domains / Familiesfor ABCA1 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
ABCA1 for domains About GeneDecksing 4 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry O95477 ProtoNet protein and cluster: O95477
UniProtKB/Swiss-Prot: ABCA1_HUMAN, O95477 Domain : Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domainand an ATP binding cassette (ABC) domain Similarity : Belongs to the ABC transporter superfamily. ABCA familySimilarity : Contains 2 ABC transporter domains
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Functionfor ABCA1 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: ABCA1_HUMAN, O95477 Function : cAMP-dependent and sulfonylurea-sensitive anion transporter. Key gatekeeper influencing intracellularcholesterol transport Induction : By bacterial lipopolysaccharides (LPS). LPS regulates expression through a liver X receptor (LXR)-independent mechanism. Repressed by ZNF202
Genatlas biochemistry entry for ABCA1 : ATP binding cassette superfamily,subfamily A,member 1,mouse ABC1 homolog,widely expressed,cholesterol carrying out of the cell for uptake into HDL particles Enzyme Numbers (IUBMB): EC 3.6.3.41 2 EC 3.6.3 2 EC 2.7.7.8 2 EC 2.8.1.8 2 Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ABCA1 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ABCA1OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: ABCA1 (NM_005502 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ABCA1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ABCA1
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA1
Gene Ontology (GO): 5/13 molecular function terms (GO ID links to tree view) (see all 13 ): About this table
ABCA1 for ontologies About GeneDecksing Animal Models: Mouse knock-outs for ABCA1: Abca1 tm2Jp Abca1 tm1Blt Abca1 tm1Wpfl Abca1 tm1.1Jp Abca1 tm1Jdm 15/18 MGI mutant phenotypes (inferred from 7 alleles ) (MGI details for Abca1) (see all 18 ):
ABCA1 for phenotypes About GeneDecksing
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Pathways & Interactionsfor ABCA1 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/15 super-pathways (see all 15 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) 2 Lipoprotein metabolism 3 Metabolism 4 Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF) 5 Expression of ABCA1
Pathway sources See GeneCards unified pathways Show all pathways 2 EMD Millipore Pathways for ABCA1 2 GeneGo (Thomson Reuters) Pathways for ABCA1 5 BioSystems Pathways for ABCA1 5/9
Reactome Pathways for ABCA1 (see all 9 )2
Kegg Pathways (Kegg details for ABCA1) :
ABCA1 for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ABCA1 STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/64 Interacting proteins for ABCA1 (O95477 1 , 2 , 3 ENSP00000363868 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 64 )Interactant Interaction Details GeneCard External ID(s) SNTB1 Q13884 1 , 3 , ENSP00000378965 4 EBI-784112,EBI-295843 I2D:
score=2 STRING: ENSP00000378965 SNTB2 Q13425 2 , 3 , ENSP00000338191 4 MINT-59502 MINT-59503 MINT-59501 I2D:
score=4 STRING: ENSP00000338191 SNTA1 Q13424 1 , 3 , ENSP00000217381 4 EBI-784112,EBI-717191 I2D:
score=3 STRING: ENSP00000217381 ARHGEF11 O15085 3 , ENSP00000357177 4 I2D:
score=3 STRING: ENSP00000357177 ARHGEF12 Q9NZN5 3 , ENSP00000380942 4 I2D:
score=2 STRING: ENSP00000380942
About this table Gene Ontology (GO): 5/34 biological process terms (GO ID links to tree view) (see all 34 ): About this table
ABCA1 for ontologies About GeneDecksing
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Drugs & Compoundsfor ABCA1 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
ABCA1 for compounds About GeneDecksing Browse Tocris compounds for ABCA1 2 HMDB Compounds for ABCA1 About this table 3 DrugBank Compounds for ABCA1 About this table 10/81 Novoseek chemical compound relationships for ABCA1 gene (see all 81 ) About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
cholesterol
88.9
1179
17409096 (8), 18427282 (7), 12700343 (7), 20037141 (7) (see all 99 )
22r-hydroxycholesterol
85.1
21
12401893 (2), 16142410 (1), 17767055 (1), 18427282 (1) (see all 14 )
24(s),25-epoxycholesterol
82.9
6
16901265 (4), 15514210 (1), 17186944 (1)
sterol
78.6
39
11742879 (6), 16254198 (3), 15358760 (3), 16788211 (2) (see all 22 )
abc2
76.7
4
11270397 (2), 19806386 (1), 9027511 (1)
lipid
75.6
262
18776170 (6), 19202195 (5), 19151332 (4), 20185793 (4) (see all 99 )
27-hydroxycholesterol
72.6
3
17088262 (2), 16099444 (1)
cholesterol ester
71.9
12
17652712 (1), 12759900 (1), 18270459 (1), 19644050 (1) (see all 11 )
phospholipid
71.2
91
12738681 (4), 16855366 (4), 14703508 (3), 11309399 (3) (see all 62 )
gw 3965
68.6
1
15145986 (1)
Search CenterWatch for drugs/clinical trials and news about ABCA1
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Transcriptsfor ABCA1 gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for ABCA1 gene: NM_005502.3 Unigene Cluster for ABCA1:
ATP-binding cassette, sub-family A (ABC1), member 1 Hs.659274 [show with all ESTs ] Unigene Representative Sequence: NM_005502 4 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000374736 (uc004bcl.3 ) ENST00000494467 ENST00000423487 ENST00000374733 (uc004bcm.3 )Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ABCA1 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ABCA1OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: ABCA1 (NM_005502 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ABCA1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ABCA1
Additional cDNA sequence: AB037924.1 AB055982.1 AB445477.1 AF165281.1 AF258627.1 AF285167.1 AJ012376.1 AK024328.1 AK027864.1 BC034824.1 BC146856.1
9 DOTS entries : DT.414915 DT.75116842
DT.92430391 DT.92054245 DT.97780029 DT.95163274 DT.40194073 DT.40233262 DT.91746745 24/134 AceView cDNA sequences (see all 134 ):
BX955241 AB055982 BM823180 BC034824 BQ026286 BE222116 BF438337 Z40310 BM768930 AA769130 BM153383 AA292158 BU753834 AA748860 BF891375 C01846 CA976033 AA434152 AU121731 AA731742 AA669024 AL701341 NM_005502 AA328733 GeneLoc Exon Structure 4 Alternative Splicing Database (ASD) splice patterns (SP) for ABCA1 About this scheme ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ SP1 :                                       -               SP2 :                                                     SP3 :     -                                                 SP4 :                                                    
ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49a · SP1 :                                                   -   SP2 :                                                     SP3 :                                                     SP4 :                                                    
ExUns: 49b ^ 50a · 50b SP1 :       SP2 :       SP3 :       SP4 :      
ECgene alternative splicing isoforms for ABCA1
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Expression for ABCA1 gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section ABCA1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: --
About this image ABCA1 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See ABCA1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for ABCA1 SOURCE GeneReport for Unigene cluster: Hs.659274 UniProtKB/Swiss-Prot: ABCA1_HUMAN, O95477 Tissue specificity : Widely expressed, but most abundant in macrophages SABiosciences Expression via Pathway-Focused PCR Arrays including ABCA1 : Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for ABCA1Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat ABCA1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat ABCA1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat ABCA1 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA1
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Orthologsfor ABCA1 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of eukaryotes.
Orthologs for ABCA1 gene from 5/21 species (see all 21 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
ABCA11
ATP-binding cassette, sub-family A (ABC1), member 1
78.51(n) 85.8(a)
 
373945 NM_204145.1 NP_989476.1
lizard (Anolis carolinensis)
Reptilia
ABCA16
--
84(a)
1 ↔ 1
2(75535339-75656283)
zebrafish (Danio rerio)
Actinopterygii
abca1b2
ATP-binding cassette, sub-family A (ABC1), member 1B
72.88(n)
 
321246 57041705
worm (Caenorhabditis elegans)
Secernentea
abt-26
ABC Transporter family member (abt-2)
24(a)
1 → many
I(2255925-2272868)
thale cress (Arabidopsis thaliana)
eudicotyledons
ABCA11
ABC transporter A family member 1
47.84(n) 38.9(a)
 
818768 NM_180023.3 NP_850354.2
ENSEMBL Gene Tree for ABCA1 (if available)TreeFam Gene Tree for ABCA1 (if available)
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Paralogsfor ABCA1 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for ABCA1 gene ABCG1 2 ABCA10 2 ABCA13 2 ABCA3 2 ABCG8 2 ABCA2 2 ABCA6 2 ABCA5 2 ABCG2 2 ABCA8 2 ABCG4 2 ABCA4 2 ABCA12 2 ABCA7 2 ABCG5 2 ABCA9 2 16 SIMAP similar genes for ABCA1 using alignment to 8 protein entries: ABCA1_HUMAN (see all proteins ):ABC-1 ABC1 DKFZp547P193 DKFZp434E1030 ABC2 DKFZp781N1972 ABCA7 ABCA4 ABCA2 DKFZp686K07118 ABCA12 DKFZp313D2411 ABCA13 ABCA3 ABCG2 ABCA3 variant protein
ABCA1 for paralogs About GeneDecksing
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Genomic Variantsfor ABCA1 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 9 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for ABCA1 (107543283 - 107690518 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 4 variations for ABCA1 4 CNVs : 36902 0650 65481 62935 Human Gene Mutation Database (HGMD) : ABCA1 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing ABCA1
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Disorders
/ Diseasesfor ABCA1 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
ABCA1 for disorders About GeneDecksing OMIM gene information: 600046 OMIM disorders : 205400 604091 143890 UniProtKB/Swiss-Prot: ABCA1_HUMAN, O95477
Defects in ABCA1 are a cause of high density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]; also known as analphalipoproteinemia or Tangier disease (TGD). HDLD1 is a recessive 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 Defects in ABCA1 are a cause of high density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]; also known as familial hypoalphalipoproteinemia (FHA). HDLD2 is inherited 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 20/81 diseases for ABCA1 (see all 81 ): About MalaCards coronary artery disease in familial hypercholesterolemia, protection against tangier disease cholesterol chediak-higashi syndrome niemann-pick disease cerebral amyloid angiopathy xeroderma pigmentosum, group c hdl deficiency age related macular degeneration xeroderma pigmentosum patent ductus arteriosus familial hypercholesterolemia pre-eclampsia scott syndrome hyperalphalipoproteinemia pick's disease type 2 diabetes mellitus surfactant deficiency hypoalphalipoproteinemia coronary heart disease 5 diseases from the University of Copenhagen DISEASES database for ABCA1 :Tangier disease Atherosclerosis Coronary heart disease Alzheimer's disease Diabetes mellitus 10/45 Novoseek disease relationships for ABCA1 gene (see all 45 ) About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
tangier disease
97.4
172
10535983 (6), 12236582 (3), 11855831 (2), 12576507 (2) (see all 99 )
lipoprotein deficiencies
87.1
8
11785958 (2), 11476961 (1), 12706378 (1), 15177564 (1) (see all 6 )
hypoalphalipoproteinemia
81.9
8
11279031 (2), 15767853 (1), 16610615 (1), 17287470 (1) (see all 6 )
atherosclerosis
77.8
108
19201688 (7), 11752403 (5), 20137092 (3), 15528481 (3) (see all 67 )
hyperalphalipoproteinemia
63.7
1
11457883 (1)
scott syndrome
53.5
2
15790791 (1), 16855366 (1)
lipoprotein disorder
51.2
1
15019541 (1)
atherosclerotic plaque
51
11
15961705 (2), 15528463 (2), 18221072 (1), 20137092 (1) (see all 9 )
cardiovascular diseases
50.5
21
15262183 (2), 16183915 (2), 17093293 (1), 16446539 (1) (see all 14 )
coronary artery disease
48.4
26
11086027 (2), 11940086 (2), 18996286 (2), 17412755 (2) (see all 20 )
Genetic Association Database (GAD): ABCA1 Human Genome Epidemiology (HuGE) Navigator: ABCA1 (163 documents) Export disorders for ABCA1 gene to outside databases
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Publicationsfor ABCA1 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for ABCA1 gene, integrated from 9 sources (see all 897 ): (articles sorted by number of sources associating them with ABCA1) Utopia : connect your pdf to the dynamic world of online information
Multiple rare alleles contribute to low plasma levels of HDL cholesterol. (PubMed id 15297675) 1 , 2 , 4, 9 Cohen J.C....Hobbs H.H. (2004) A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia. (PubMed id 12624133) 1 , 2 , 4, 9 Cenarro A.... Civeira F. (2003) ABCA1 gene polymorphisms and their associations with coronary artery disease and plasma lipids in males from three ethnic populations in Singapore. (PubMed id 12709788) 1 , 2 , 4, 9 Tan J.H.... Heng C.K. (2003) Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease. (PubMed id 11238261) 1 , 2 , 4, 9 Clee S.M....Hayden M.R. (2001) Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux. (PubMed id 10533863) 1 , 2 , 9 Marcil M.... Hayden M.R. (1999) Association between increased arterial-wall thickness and impairment in ABCA1-driven cholesterol efflux: an observational study. (PubMed id 11809185) 1 , 4, 9 van Dam M.J....Kastelein J.J. (2002) Common and rare ABCA1 variants affecting plasma HDL cholesterol. (PubMed id 10938021) 1 , 2 , 9 Wang J.... Hegele R.A. (2000) Screening for functional sequence variations and mutations in ABCA1. (PubMed id 15262183) 1 , 2 , 9 Probst M.C.... Schmitz G. (2004) Expression and functional analyses of novel mutations of ATP-binding cassette transporter-1 in Japanese patients with high-density lipoprotein deficiency. (PubMed id 11785958) 1 , 2 , 9 Nishida Y.... Matsuzawa Y. (2002) The zinc finger protein 202 (ZNF202) is a transcriptional repressor of ATP binding cassette transporter A1 (ABCA1) and ABCG1 gene expression and a modulator of cellular lipid efflux. (PubMed id 11279031) 1 , 2 , 9 Porsch-Oezcueruemez M.... Schmitz G. (2001)
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
External Searches for ABCA1 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Genome Databases showing ABCA1 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Other Databases showing ABCA1 gene
(According to HUGE )
About This Section --
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Specialized Databases showing ABCA1 gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description
PharmGKB entry for ABCA1 Pharmacogenomics, SNPs, Pathways GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCA1 SHMPD http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=ABCA1 ABCMdb http://abcmutations.hegelab.org/proteinDetails?uniprot_id=O95477
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
About This Section Patent Information for ABCA1 gene: Search GeneIP for patents involving ABCA1 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Productsfor ABCA1 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
OriGene Antibodies for ABCA1 OriGene shRNA RFP for ABCA1 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for ABCA1 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for ABCA1 Browse OriGene Protein Over-expression Lysates Browse OriGene Fluorogenic Cell Assay Kits Browse OriGene siRNAs OriGene 3'-UTR Clone for ABCA1 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ABCA1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ABCA1 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for ABCA1 OriGene Custom Protein Services for ABCA1 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ABCA1 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing ABCA1 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat ABCA1 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat ABCA1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat ABCA1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat ABCA1
Search Tocris compounds for ABCA1
ABCA1 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA1
ThermoFisher Antibody for ABCA1
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ABCA1
Jump to Section...
Aliases for ABCA1
Databases for ABCA1
Disorders / Diseases for ABCA1
Domains / Families for ABCA1
Drugs / Compounds for ABCA1
Expression for ABCA1
Function for ABCA1
Genomic Views for ABCA1
Intellectual Property for ABCA1
Orthologs for ABCA1
Paralogs for ABCA1
Pathways / Interactions for ABCA1
Products for ABCA1
Proteins for ABCA1
Publications for ABCA1
Search Box for ABCA1
Summaries for ABCA1
Transcripts for ABCA1
Variants for ABCA1
TOP
BOTTOM