O95477 (ABCA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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

Gene names

Name:	ABCA1
Synonyms:	ABC1, CERP

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	2261 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	cAMP-dependent and sulfonylurea-sensitive anion transporter. Key gatekeeper influencing intracellular cholesterol transport.
Subunit structure	Interacts with MEGF10. Ref.11
Subcellular location	Membrane; Multi-pass membrane protein Ref.13 Ref.14.
Tissue specificity	Widely expressed, but most abundant in macrophages.
Induction	By bacterial lipopolysaccharides (LPS). LPS regulates expression through a liver X receptor (LXR) -independent mechanism. Repressed by ZNF202. Ref.10
Domain	Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.
Post-translational modification	Phosphorylation on Ser-2054 regulates phospholipid efflux. Palmitoylation by DHHC8 is essential for membrane localization. Ref.13
Involvement in disease	High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]: 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.24 Ref.25 Ref.29 Ref.30 Ref.31 Ref.32 Ref.33 Ref.37 Ref.38 Ref.39 Ref.40 Ref.41 Ref.43 High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]: 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.16 Ref.17 Ref.19 Ref.21 Ref.27 Ref.28 Ref.43 Ref.44
Sequence similarities	Belongs to the ABC transporter superfamily. ABCA family. Contains 2 ABC transporter domains.
Sequence caution	The sequence AAD49849.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence CAA10005.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Biological process	Cholesterol metabolism Lipid metabolism Steroid metabolism Sterol metabolism Transport
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Disease	Atherosclerosis Disease mutation
Domain	Repeat Transmembrane Transmembrane helix
Ligand	ATP-binding Nucleotide-binding
PTM	Disulfide bond Glycoprotein Lipoprotein Palmitate Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ATP catabolic process Inferred from electronic annotation. Source: GOC G-protein coupled receptor signaling pathway Inferred from mutant phenotype PubMed 16443932. Source: BHF-UCL cellular lipid metabolic process Traceable author statement. Source: Reactome cellular response to lipopolysaccharide Inferred from electronic annotation. Source: Compara cellular response to retinoic acid Inferred from electronic annotation. Source: Compara cholesterol efflux Inferred from direct assay Ref.17PubMed 11162594. Source: BHF-UCL cholesterol homeostasis Inferred from direct assay Ref.17. Source: BHF-UCL cholesterol metabolic process Inferred from direct assay PubMed 14747463. Source: BHF-UCL endosomal transport Inferred from direct assay PubMed 14747463. Source: BHF-UCL high-density lipoprotein particle assembly Inferred from mutant phenotype Ref.17PubMed 17305370. Source: BHF-UCL interleukin-1 beta secretion Inferred from mutant phenotype PubMed 11855831. Source: BHF-UCL intracellular cholesterol transport Inferred from mutant phenotype Ref.17. Source: BHF-UCL lipoprotein metabolic process Traceable author statement. Source: Reactome lysosome organization Inferred from direct assay PubMed 15163665. Source: BHF-UCL negative regulation of cholesterol storage Traceable author statement PubMed 18490524. Source: BHF-UCL negative regulation of macrophage derived foam cell differentiation Traceable author statement PubMed 18490524. Source: BHF-UCL peptide secretion Inferred from electronic annotation. Source: Compara phagocytosis, engulfment Inferred from electronic annotation. Source: Compara phospholipid efflux Inferred from direct assay Ref.17PubMed 11162594. Source: BHF-UCL phospholipid homeostasis Inferred from mutant phenotype PubMed 16702602. Source: BHF-UCL phospholipid translocation Inferred from electronic annotation. Source: Compara platelet dense granule organization Inferred from mutant phenotype PubMed 15163665. Source: BHF-UCL positive regulation of cAMP biosynthetic process Inferred from mutant phenotype PubMed 14701824. Source: BHF-UCL positive regulation of cholesterol efflux Inferred from electronic annotation. Source: Compara protein lipidation Inferred from electronic annotation. Source: Compara regulation of Cdc42 protein signal transduction Inferred from mutant phenotype PubMed 16443932. Source: BHF-UCL response to laminar fluid shear stress Inferred from expression pattern PubMed 15358760. Source: BHF-UCL response to low-density lipoprotein particle stimulus Inferred from expression pattern PubMed 15358760. Source: BHF-UCL reverse cholesterol transport Inferred from mutant phenotype Ref.17. Source: BHF-UCL
Cellular_component	Golgi apparatus Inferred from electronic annotation. Source: Compara integral to plasma membrane Inferred from direct assay PubMed 10525055. Source: BHF-UCL membrane raft Inferred from direct assay PubMed 15469992. Source: BHF-UCL phagocytic vesicle Inferred from direct assay PubMed 15469992. Source: BHF-UCL
Molecular_function	ATP binding Inferred from direct assay PubMed 11700048. Source: BHF-UCL ATPase activity Inferred from electronic annotation. Source: InterPro anion transmembrane transporter activity Inferred from sequence or structural similarity. Source: BHF-UCL apolipoprotein A-I receptor activity Inferred from direct assay PubMed 16443932. Source: BHF-UCL cholesterol binding Inferred by curator PubMed 12084722. Source: BHF-UCL cholesterol transporter activity Inferred from direct assay PubMed 12084722. Source: BHF-UCL phospholipid binding Inferred by curator PubMed 16702602. Source: BHF-UCL phospholipid transporter activity Inferred from direct assay PubMed 16702602. Source: BHF-UCL
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
SNTA1	Q13424	2	EBI-784112,EBI-717191
SNTB1	Q13884	3	EBI-784112,EBI-295843

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2261	2261	ATP-binding cassette sub-family A member 1		PRO_0000093288
Regions
	Transmembrane	22 – 42	21	Helical; Potential
	Topological domain	43 – 639	597	Extracellular
	Transmembrane	640 – 660	21	Helical; Potential
	Transmembrane	683 – 703	21	Helical; Potential
	Transmembrane	716 – 736	21	Helical; Potential
	Transmembrane	745 – 765	21	Helical; Potential
	Transmembrane	777 – 797	21	Helical; Potential
	Transmembrane	827 – 847	21	Helical; Potential
	Transmembrane	1041 – 1057	17	Helical; Potential
	Transmembrane	1351 – 1371	21	Helical; Potential
	Topological domain	1372 – 1656	285	Extracellular
	Transmembrane	1657 – 1677	21	Helical; Potential
	Transmembrane	1703 – 1723	21	Helical; Potential
	Transmembrane	1735 – 1755	21	Helical; Potential
	Transmembrane	1768 – 1788	21	Helical; Potential
	Transmembrane	1802 – 1822	21	Helical; Potential
	Transmembrane	1852 – 1872	21	Helical; Potential
	Domain	899 – 1131	233	ABC transporter 1
	Domain	1912 – 2144	233	ABC transporter 2
	Nucleotide binding	933 – 940	8	ATP 1 Potential
	Nucleotide binding	1946 – 1953	8	ATP 2 Potential
Amino acid modifications
	Modified residue	1042	1	Phosphoserine; by PKA Ref.8
	Modified residue	1141	1	Phosphoserine By similarity
	Modified residue	1147	1	Phosphoserine By similarity
	Modified residue	2054	1	Phosphoserine; by PKA Ref.8
	Lipidation	3	1	S-palmitoyl cysteine Ref.13
	Lipidation	23	1	S-palmitoyl cysteine Ref.13
	Lipidation	1110	1	S-palmitoyl cysteine Ref.13
	Lipidation	1111	1	S-palmitoyl cysteine Ref.13
	Glycosylation	14	1	N-linked (GlcNAc...) Potential
	Glycosylation	98	1	N-linked (GlcNAc...) Ref.15
	Glycosylation	151	1	N-linked (GlcNAc...) Potential
	Glycosylation	161	1	N-linked (GlcNAc...) Potential
	Glycosylation	196	1	N-linked (GlcNAc...) Potential
	Glycosylation	244	1	N-linked (GlcNAc...) Ref.15
	Glycosylation	292	1	N-linked (GlcNAc...) Potential
	Glycosylation	337	1	N-linked (GlcNAc...) Potential
	Glycosylation	349	1	N-linked (GlcNAc...) Potential
	Glycosylation	400	1	N-linked (GlcNAc...) Potential
	Glycosylation	478	1	N-linked (GlcNAc...) Potential
	Glycosylation	489	1	N-linked (GlcNAc...) Potential
	Glycosylation	521	1	N-linked (GlcNAc...) Potential
	Glycosylation	820	1	N-linked (GlcNAc...) Potential
	Glycosylation	1144	1	N-linked (GlcNAc...) Potential
	Glycosylation	1294	1	N-linked (GlcNAc...) Potential
	Glycosylation	1453	1	N-linked (GlcNAc...) Potential
	Glycosylation	1504	1	N-linked (GlcNAc...) Potential
	Glycosylation	1637	1	N-linked (GlcNAc...) Potential
	Glycosylation	2044	1	N-linked (GlcNAc...) Potential
	Glycosylation	2238	1	N-linked (GlcNAc...) Potential
	Disulfide bond	75 ↔ 309		Ref.14
	Disulfide bond	1463 ↔ 1477		Ref.14
Natural variations
	Natural variant	85	1	P → L in HDLD2; Alabama. Ref.27		VAR_017529
	Natural variant	210	1	E → D in a colorectal cancer sample; somatic mutation. Ref.45		VAR_035724
	Natural variant	219	1	R → K Common polymorphism; associated with a decreased severity of CAD. Ref.21 Ref.23 Ref.25 Ref.26 Ref.35 Ref.36 Ref.40 Corresponds to variant rs2230806 [ dbSNP | Ensembl ].		VAR_012618
	Natural variant	230	1	R → C in HDLD2. Ref.21 Corresponds to variant rs9282541 [ dbSNP | Ensembl ].		VAR_012619
	Natural variant	248	1	P → A. Ref.41		VAR_062481
	Natural variant	255	1	A → T in HDLD1; deficient cellular cholesterol efflux. Ref.29		VAR_012620
	Natural variant	284	1	E → K in HDLD1. Ref.38		VAR_062482
	Natural variant	364	1	S → C. Ref.40		VAR_062483
	Natural variant	399	1	V → A. Ref.18 Ref.26 Corresponds to variant rs9282543 [ dbSNP | Ensembl ].		VAR_009145
	Natural variant	401	1	K → Q. Ref.41		VAR_062484
	Natural variant	482	1	Y → C in HDLD1. Ref.38		VAR_062485
	Natural variant	496	1	R → W Associated with increased plasma HDL cholesterol. Ref.41 Corresponds to variant rs147675550 [ dbSNP | Ensembl ].		VAR_062486
	Natural variant	587	1	R → W in HDLD1. Ref.22 Corresponds to variant rs2853574 [ dbSNP | Ensembl ].		VAR_009146
	Natural variant	590	1	W → L in HDLD1. Ref.30 Ref.37		VAR_062487
	Natural variant	590	1	W → S in HDLD1. Ref.18 Ref.41		VAR_009147
	Natural variant	597	1	Q → R in HDLD1. Ref.17 Ref.19 Corresponds to variant rs2853578 [ dbSNP | Ensembl ].		VAR_009148
	Natural variant	638	1	R → Q Associated with reduced plasma HDL cholesterol. Ref.41		VAR_062488
	Natural variant	693	1	Missing in HDLD2. Ref.17 Ref.19		VAR_009149
	Natural variant	771	1	V → M Associated with HDL cholesterol. Ref.26 Ref.35 Ref.37 Ref.40 Corresponds to variant rs2066718 [ dbSNP | Ensembl ].		VAR_012621
	Natural variant	774	1	T → P. Ref.26 Ref.40 Corresponds to variant rs35819696 [ dbSNP | Ensembl ].		VAR_012622
	Natural variant	774	1	T → S. Ref.41		VAR_062489
	Natural variant	776	1	K → N May be associated with increased risk of ischemic heart disease. Ref.26 Ref.40 Ref.43 Corresponds to variant rs138880920 [ dbSNP | Ensembl ].		VAR_012623
	Natural variant	815	1	E → G Associated with reduced plasma HDL cholesterol. Ref.41 Corresponds to variant rs145582736 [ dbSNP | Ensembl ].		VAR_062490
	Natural variant	825	1	V → I Associated with higher plasma cholesterol. Ref.21 Ref.26 Ref.34 Ref.35 Ref.40 Corresponds to variant rs2066715 [ dbSNP | Ensembl ].		VAR_012624
	Natural variant	840	1	W → R in HDLD1. Ref.37		VAR_062491
	Natural variant	883	1	I → M Associated with higher plasma cholesterol. Ref.18 Ref.21 Ref.23 Ref.26 Ref.34 Ref.35 Ref.40 Corresponds to variant rs2066714 [ dbSNP | Ensembl ].		VAR_012625
	Natural variant	917	1	D → Y in a colorectal cancer sample; somatic mutation. Ref.45		VAR_035725
	Natural variant	929	1	T → I in HDLD1. Ref.19		VAR_012626
	Natural variant	935	1	N → H in HDLD1. Ref.31 Corresponds to variant rs28937314 [ dbSNP | Ensembl ].		VAR_037968
	Natural variant	935	1	N → S in HDLD1. Ref.18 Ref.31 Corresponds to variant rs28937313 [ dbSNP | Ensembl ].		VAR_009150
	Natural variant	937	1	A → V in HDLD1. Ref.18		VAR_009151
	Natural variant	1046	1	A → D in HDLD1. Ref.21		VAR_012627
	Natural variant	1054	1	V → I. Corresponds to variant rs13306072 [ dbSNP | Ensembl ].		VAR_037969
	Natural variant	1065	1	P → S. Ref.40		VAR_062492
	Natural variant	1068	1	R → C in HDLD1. Ref.37		VAR_062493
	Natural variant	1091	1	M → T in HDLD2. Ref.16 Ref.19		VAR_012628
	Natural variant	1099	1	D → Y in HDLD2. Ref.28 Corresponds to variant rs28933692 [ dbSNP | Ensembl ].		VAR_017530
	Natural variant	1172	1	E → D Associated with premature coronary heart disease. Ref.23 Ref.26 Ref.35 Ref.40 Corresponds to variant rs33918808 [ dbSNP | Ensembl ].		VAR_012629
	Natural variant	1181	1	S → F Associated with reduced plasma HDL cholesterol. Ref.35 Ref.41 Corresponds to variant rs76881554 [ dbSNP | Ensembl ].		VAR_017016
	Natural variant	1216	1	G → V. Ref.40		VAR_062494
	Natural variant	1289	1	D → N in HDLD1. Ref.20 Ref.25		VAR_009152
	Natural variant	1341	1	R → T Associated with reduced plasma HDL cholesterol. Ref.41 Corresponds to variant rs147743782 [ dbSNP | Ensembl ].		VAR_062495
	Natural variant	1376	1	S → G. Ref.41		VAR_062496
	Natural variant	1379	1	L → F in HDLD1; the mutant protein is retained in the endoplasmic reticulum while the wild-type protein is located at the plasma membrane. Ref.39		VAR_062497
	Natural variant	1407	1	A → T in a colorectal cancer sample; somatic mutation. Ref.45		VAR_035726
	Natural variant	1477	1	C → R in HDLD1. Ref.17 Ref.19		VAR_009153
	Natural variant	1506	1	S → L in HDLD1. Ref.24		VAR_012630
	Natural variant	1517	1	I → R in HDLD1.		VAR_009154
	Natural variant	1555	1	I → T. Ref.6 Ref.7 Corresponds to variant rs1997618 [ dbSNP | Ensembl ].		VAR_012638
	Natural variant	1587	1	K → R Associated with HDL cholesterol. Ref.1 Ref.2 Ref.3 Ref.6 Ref.7 Ref.21 Ref.26 Ref.35 Ref.40 Corresponds to variant rs2230808 [ dbSNP | Ensembl ].		VAR_012631
	Natural variant	1611	1	N → D Probable disease-associated mutation; associated with atherosclerosis; deficient cellular cholesterol efflux. Ref.29		VAR_012632
	Natural variant	1615	1	R → Q Associated with reduced plasma HDL cholesterol. Ref.41		VAR_062498
	Natural variant	1648	1	L → P. Ref.6 Ref.7 Corresponds to variant rs1883024 [ dbSNP | Ensembl ].		VAR_012639
	Natural variant	1670	1	A → T Associated with reduced plasma HDL cholesterol. Ref.41		VAR_062499
	Natural variant	1680	1	R → Q Associated with increased plasma HDL cholesterol. Ref.41 Corresponds to variant rs150125857 [ dbSNP | Ensembl ].		VAR_062500
	Natural variant	1680	1	R → W in HDLD1. Ref.32 Corresponds to variant rs137854498 [ dbSNP | Ensembl ].		VAR_037970
	Natural variant	1704	1	V → D in HDLD1; the mutant protein is retained in the endoplasmic reticulum while the wild-type protein is located at the plasma membrane. Ref.39		VAR_062501
	Natural variant	1731	1	S → C. Ref.26		VAR_012633
	Natural variant	1800	1	N → H in HDLD1. Ref.20 Ref.38 Ref.40 Ref.41		VAR_009155
	Natural variant	1851	1	R → Q in HDLD1. Ref.33		VAR_062502
	Natural variant	1893 – 1894	2	Missing in HDLD2.		VAR_012634
	Natural variant	1897	1	R → W in HDLD2; uncertain pathological significance. Ref.44		VAR_062503
	Natural variant	1901	1	R → S in HDLD1. Ref.38		VAR_062504
	Natural variant	1925	1	R → Q in Scott syndrome; shows impaired trafficking of the mutant protein to the plasma membrane. Ref.42		VAR_062505
	Natural variant	2009	1	F → S in HDLD2. Ref.28		VAR_037971
	Natural variant	2081	1	R → W in HDLD1. Ref.25		VAR_012635
	Natural variant	2109	1	A → T in a colorectal cancer sample; somatic mutation. Ref.45		VAR_035727
	Natural variant	2150	1	P → L in HDLD2. Ref.19		VAR_012636
	Natural variant	2163	1	F → S Could be associated with reduced plasma HDL cholesterol. Ref.37		VAR_062506
	Natural variant	2168	1	L → P. Ref.6 Ref.7 Ref.22 Corresponds to variant rs2853577 [ dbSNP | Ensembl ].		VAR_012637
	Natural variant	2196	1	Q → H in HDLD1. Ref.38		VAR_062507
	Natural variant	2243	1	D → E. Ref.41		VAR_062508
	Natural variant	2244	1	V → I Could be associated with reduced plasma HDL cholesterol. Ref.37 Corresponds to variant rs144588452 [ dbSNP | Ensembl ].		VAR_062509
Experimental info
	Sequence conflict	793	1	Y → C in AAK43526. Ref.3
	Sequence conflict	831	1	D → N in AAK43526. Ref.3
	Sequence conflict	1005	1	E → K in AAK43526. Ref.3
	Sequence conflict	1745 – 1746	2	Missing in AAD49852. Ref.7

Sequences

	Sequence		Length	Mass (Da)
	O95477 [UniParc]. Last modified October 5, 2010. Version 3. Checksum: 21A2CF8F3F518D6D	FASTA	2,261	254,302
	10 20 30 40 50 60 MACWPQLRLL LWKNLTFRRR QTCQLLLEVA WPLFIFLILI SVRLSYPPYE QHECHFPNKA 70 80 90 100 110 120 MPSAGTLPWV QGIICNANNP CFRYPTPGEA PGVVGNFNKS IVARLFSDAR RLLLYSQKDT 130 140 150 160 170 180 SMKDMRKVLR TLQQIKKSSS NLKLQDFLVD NETFSGFLYH NLSLPKSTVD KMLRADVILH 190 200 210 220 230 240 KVFLQGYQLH LTSLCNGSKS EEMIQLGDQE VSELCGLPRE KLAAAERVLR SNMDILKPIL 250 260 270 280 290 300 RTLNSTSPFP SKELAEATKT LLHSLGTLAQ ELFSMRSWSD MRQEVMFLTN VNSSSSSTQI 310 320 330 340 350 360 YQAVSRIVCG HPEGGGLKIK SLNWYEDNNY KALFGGNGTE EDAETFYDNS TTPYCNDLMK 370 380 390 400 410 420 NLESSPLSRI IWKALKPLLV GKILYTPDTP ATRQVMAEVN KTFQELAVFH DLEGMWEELS 430 440 450 460 470 480 PKIWTFMENS QEMDLVRMLL DSRDNDHFWE QQLDGLDWTA QDIVAFLAKH PEDVQSSNGS 490 500 510 520 530 540 VYTWREAFNE TNQAIRTISR FMECVNLNKL EPIATEVWLI NKSMELLDER KFWAGIVFTG 550 560 570 580 590 600 ITPGSIELPH HVKYKIRMDI DNVERTNKIK DGYWDPGPRA DPFEDMRYVW GGFAYLQDVV 610 620 630 640 650 660 EQAIIRVLTG TEKKTGVYMQ QMPYPCYVDD IFLRVMSRSM PLFMTLAWIY SVAVIIKGIV 670 680 690 700 710 720 YEKEARLKET MRIMGLDNSI LWFSWFISSL IPLLVSAGLL VVILKLGNLL PYSDPSVVFV 730 740 750 760 770 780 FLSVFAVVTI LQCFLISTLF SRANLAAACG GIIYFTLYLP YVLCVAWQDY VGFTLKIFAS 790 800 810 820 830 840 LLSPVAFGFG CEYFALFEEQ GIGVQWDNLF ESPVEEDGFN LTTSVSMMLF DTFLYGVMTW 850 860 870 880 890 900 YIEAVFPGQY GIPRPWYFPC TKSYWFGEES DEKSHPGSNQ KRISEICMEE EPTHLKLGVS 910 920 930 940 950 960 IQNLVKVYRD GMKVAVDGLA LNFYEGQITS FLGHNGAGKT TTMSILTGLF PPTSGTAYIL 970 980 990 1000 1010 1020 GKDIRSEMST IRQNLGVCPQ HNVLFDMLTV EEHIWFYARL KGLSEKHVKA EMEQMALDVG 1030 1040 1050 1060 1070 1080 LPSSKLKSKT SQLSGGMQRK LSVALAFVGG SKVVILDEPT AGVDPYSRRG IWELLLKYRQ 1090 1100 1110 1120 1130 1140 GRTIILSTHH MDEADVLGDR IAIISHGKLC CVGSSLFLKN QLGTGYYLTL VKKDVESSLS 1150 1160 1170 1180 1190 1200 SCRNSSSTVS YLKKEDSVSQ SSSDAGLGSD HESDTLTIDV SAISNLIRKH VSEARLVEDI 1210 1220 1230 1240 1250 1260 GHELTYVLPY EAAKEGAFVE LFHEIDDRLS DLGISSYGIS ETTLEEIFLK VAEESGVDAE 1270 1280 1290 1300 1310 1320 TSDGTLPARR NRRAFGDKQS CLRPFTEDDA ADPNDSDIDP ESRETDLLSG MDGKGSYQVK 1330 1340 1350 1360 1370 1380 GWKLTQQQFV ALLWKRLLIA RRSRKGFFAQ IVLPAVFVCI ALVFSLIVPP FGKYPSLELQ 1390 1400 1410 1420 1430 1440 PWMYNEQYTF VSNDAPEDTG TLELLNALTK DPGFGTRCME GNPIPDTPCQ AGEEEWTTAP 1450 1460 1470 1480 1490 1500 VPQTIMDLFQ NGNWTMQNPS PACQCSSDKI KKMLPVCPPG AGGLPPPQRK QNTADILQDL 1510 1520 1530 1540 1550 1560 TGRNISDYLV KTYVQIIAKS LKNKIWVNEF RYGGFSLGVS NTQALPPSQE VNDAIKQMKK 1570 1580 1590 1600 1610 1620 HLKLAKDSSA DRFLNSLGRF MTGLDTKNNV KVWFNNKGWH AISSFLNVIN NAILRANLQK 1630 1640 1650 1660 1670 1680 GENPSHYGIT AFNHPLNLTK QQLSEVALMT TSVDVLVSIC VIFAMSFVPA SFVVFLIQER 1690 1700 1710 1720 1730 1740 VSKAKHLQFI SGVKPVIYWL SNFVWDMCNY VVPATLVIII FICFQQKSYV SSTNLPVLAL 1750 1760 1770 1780 1790 1800 LLLLYGWSIT PLMYPASFVF KIPSTAYVVL TSVNLFIGIN GSVATFVLEL FTDNKLNNIN 1810 1820 1830 1840 1850 1860 DILKSVFLIF PHFCLGRGLI DMVKNQAMAD ALERFGENRF VSPLSWDLVG RNLFAMAVEG 1870 1880 1890 1900 1910 1920 VVFFLITVLI QYRFFIRPRP VNAKLSPLND EDEDVRRERQ RILDGGGQND ILEIKELTKI 1930 1940 1950 1960 1970 1980 YRRKRKPAVD RICVGIPPGE CFGLLGVNGA GKSSTFKMLT GDTTVTRGDA FLNKNSILSN 1990 2000 2010 2020 2030 2040 IHEVHQNMGY CPQFDAITEL LTGREHVEFF ALLRGVPEKE VGKVGEWAIR KLGLVKYGEK 2050 2060 2070 2080 2090 2100 YAGNYSGGNK RKLSTAMALI GGPPVVFLDE PTTGMDPKAR RFLWNCALSV VKEGRSVVLT 2110 2120 2130 2140 2150 2160 SHSMEECEAL CTRMAIMVNG RFRCLGSVQH LKNRFGDGYT IVVRIAGSNP DLKPVQDFFG 2170 2180 2190 2200 2210 2220 LAFPGSVLKE KHRNMLQYQL PSSLSSLARI FSILSQSKKR LHIEDYSVSQ TTLDQVFVNF 2230 2240 2250 2260 AKDQSDDDHL KDLSLHKNQT VVDVAVLTSF LQDEKVKESY V

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Complete genomic sequence of the human ABCA1 gene: analysis of the human and mouse ATP-binding cassette A promoter." Santamarina-Fojo S., Peterson K.M., Knapper C.L., Qiu Y., Freeman L.A., Cheng J.-F., Osorio J., Remaley A.T., Yang X.-P., Haudenschild C.C., Prades C., Chimini G., Blackmon E.E., Francois T.L., Duverger N., Rubin E.M., Rosier M., Denefle P., Fredrickson D.S., Brewer H.B. Jr. Proc. Natl. Acad. Sci. U.S.A. 97:7987-7992(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANT ARG-1587.
[2]	"ABCA1 gene expression and apoA-I-mediated cholesterol efflux are regulated by LXR." Schwartz K., Lawn R.M., Wade D.P. Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ARG-1587. Tissue: Skin.
[3]	"Human and mouse ABCA1 comparative sequencing and transgenesis studies revealing novel regulatory sequences." Qiu Y., Cavelier L., Chiu S., Yang X., Rubin E., Cheng J.-F. Genomics 73:66-76(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ARG-1587.
[4]	"A new topological model of functional human ABCA1-signal peptide cleavage and glycosylation of a large extracellular domain." Tanaka A.R., Abe-Dohmae S., Arakawa R., Sadanami K., Kidera A., Kioka N., Amachi T., Yokoyama S., Ueda K. Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[5]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"Molecular cloning of the human ATP-binding cassette transporter 1 (hABC1): evidence for sterol-dependent regulation in macrophages." Langmann T., Klucken J., Reil M., Liebisch G., Luciani M.-F., Chimini G., Kaminski W.E., Schmitz G. Biochem. Biophys. Res. Commun. 257:29-33(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 21-2261, VARIANTS THR-1555; ARG-1587; PRO-1648 AND PRO-2168.
[7]	"Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1." Rust S., Rosier M., Funke H., Real J., Amoura Z., Piette J.-C., Deleuze J.-F., Brewer H.B. Jr., Duverger N., Denefle P., Assmann G. Nat. Genet. 22:352-355(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 21-2261, VARIANTS THR-1555; ARG-1587; PRO-1648 AND PRO-2168.
[8]	"Protein kinase A site-specific phosphorylation regulates ATP-binding cassette A1 (ABCA1)-mediated phospholipid efflux." See R.H., Caday-Malcolm R.A., Singaraja R.R., Zhou S., Silverston A., Huber M.T., Moran J., James E.R., Janoo R., Savill J.M., Rigot V., Zhang L.H., Wang M., Chimini G., Wellington C.L., Tafuri S.R., Hayden M.R. J. Biol. Chem. 277:41835-41842(2002) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION AT SER-1042 AND SER-2054.
[9]	"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." Porsch-Oezcueruemez M., Langmann T., Heimerl S., Borsukova H., Kaminski W.E., Drobnik W., Honer C., Schumacher C., Schmitz G. J. Biol. Chem. 276:12427-12433(2001) [PubMed] [Europe PMC] [Abstract] Cited for: REPRESSION BY ZNF202.
[10]	"Bacterial lipopolysaccharide induces expression of ABCA1 but not ABCG1 via an LXR-independent pathway." Kaplan R., Gan X., Menke J.G., Wright S.D., Cai T.-Q. J. Lipid Res. 43:952-959(2002) [PubMed] [Europe PMC] [Abstract] Cited for: INDUCTION BY LPS.
[11]	"Cooperation between engulfment receptors: the case of ABCA1 and MEGF10." Hamon Y., Trompier D., Ma Z., Venegas V., Pophillat M., Mignotte V., Zhou Z., Chimini G. PLoS ONE 1:E120-E120(2006) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH MEGF10.
[12]	"Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene." Singaraja R.R., Brunham L.R., Visscher H., Kastelein J.J.P., Hayden M.R. Arterioscler. Thromb. Vasc. Biol. 23:1322-1332(2003) [PubMed] [Europe PMC] [Abstract] Cited for: REVIEW ON VARIANTS.
[13]	"Palmitoylation of ATP-binding cassette transporter A1 is essential for its trafficking and function." Singaraja R.R., Kang M.H., Vaid K., Sanders S.S., Vilas G.L., Arstikaitis P., Coutinho J., Drisdel R.C., El-Husseini Ael D., Green W.N., Berthiaume L., Hayden M.R. Circ. Res. 105:138-147(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PALMITOYLATION AT CYS-3; CYS-23; CYS-1110 AND CYS-1111, SUBCELLULAR LOCATION.
[14]	"Formation of two intramolecular disulfide bonds is necessary for ApoA-I-dependent cholesterol efflux mediated by ABCA1." Hozoji M., Kimura Y., Kioka N., Ueda K. J. Biol. Chem. 284:11293-11300(2009) [PubMed] [Europe PMC] [Abstract] Cited for: DISULFIDE BONDS, SUBCELLULAR LOCATION.
[15]	"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry." Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H. J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-98 AND ASN-244, MASS SPECTROMETRY. Tissue: Liver.
[16]	"Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux." Marcil M., Brooks-Wilson A., Clee S.M., Roomp K., Zhang L.-H., Yu L., Collins J.A., van Dam M., Molhuizen H.O.F., Loubser O., Ouellette B.F.F., Sensen C.W., Fichter K., Mott S., Denis M., Boucher B., Pimstone S., Genest J. Jr., Kastelein J.J.P., Hayden M.R. Lancet 354:1341-1346(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HDLD2 THR-1091 AND 1893-GLU-ASP-1894 DEL.
[17]	"Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency." Brooks-Wilson A., Marcil M., Clee S.M., Zhang L.-H., Roomp K., van Dam M., Yu L., Brewer C., Collins J.A., Molhuizen H.O.F., Loubser O., Ouelette B.F.F., Fichter K., Ashbourne-Excoffon K.J.D., Sensen C.W., Scherer S., Mott S., Denis M. , Martindale D., Frohlich J., Morgan K., Koop B., Pimstone S., Kastelein J.J.P., Hayden M.R. Nat. Genet. 22:336-345(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HDLD1 ARG-597 AND ARG-1477, VARIANT HDLD2 LEU-693 DEL.
[18]	"The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease." Bodzioch M., Orso E., Klucken J., Langmann T., Boettcher A., Diederich W., Drobnik W., Barlage S., Buechler C., Porsch-Oezcueruemez M., Kaminski W.E., Hahmann H.W., Oette K., Rothe G., Aslanidis C., Lackner K.J., Schmitz G. Nat. Genet. 22:347-351(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HDLD1 SER-590; SER-935 AND VAL-937, VARIANTS ALA-399 AND MET-883.
[19]	"Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes." Clee S.M., Kastelein J.J.P., van Dam M., Marcil M., Roomp K., Zwarts K.Y., Collins J.A., Roelants R., Tamasawa N., Stulc T., Suda T., Ceska R., Boucher B., Rondeau C., DeSouich C., Brooks-Wilson A., Molhuizen H.O.F., Frohlich J., Genest J. Jr., Hayden M.R. J. Clin. Invest. 106:1263-1270(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HDLD1 ARG-597; ILE-929 AND ARG-1477, VARIANTS HDLD2 LEU-693 DEL; THR-1091; 1893-GLU-ASP-1894 DEL AND LEU-2150.
[20]	"Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds." Brousseau M.E., Schaefer E.J., Dupuis J., Eustace B., Van Eerdewegh P., Goldkamp A.L., Thurston L.M., FitzGerald M.G., Yasek-McKenna D., O'Neill G., Eberhart G.P., Weiffenbach B., Ordovas J.M., Freeman M.W., Brown R.H. Jr., Gu J.Z. J. Lipid Res. 41:433-441(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HDLD1 ASN-1289 AND HIS-1800.
[21]	"Common and rare ABCA1 variants affecting plasma HDL cholesterol." Wang J., Burnett J.R., Near S., Young K., Zinman B., Hanley A.J.G., Connelly P.W., Harris S.B., Hegele R.A. Arterioscler. Thromb. Vasc. Biol. 20:1983-1989(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HDLD1 ASP-1046, VARIANT HDLD2 CYS-230, VARIANTS LYS-219; ILE-825; MET-883 AND ARG-1587.
[22]	"A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease." Bertolini S., Pisciotta L., Seri M., Cusano R., Cantafora A., Calabresi L., Franceschini G., Ravazzolo R., Calandra S. Atherosclerosis 154:599-605(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HDLD1 TRP-587, VARIANT PRO-2168.
[23]	"Common variants in the gene encoding ATP-binding cassette transporter 1 in men with low HDL cholesterol levels and coronary heart disease." Brousseau M.E., Bodzioch M., Schaefer E.J., Goldkamp A.L., Kielar D., Probst M., Ordovas J.M., Aslanidis C., Lackner K.J., Bloomfield Rubins H., Collins D., Robins S.J., Wilson P.W.F., Schmitz G. Atherosclerosis 154:607-611(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LYS-219; MET-883 AND ASP-1172.
[24]	"Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA1 gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome." Lapicka-Bodzioch K., Bodzioch M., Kruell M., Kielar D., Probst M., Kiec B., Andrikovics H., Boettcher A., Hubacek J., Aslanidis C., Suttorp N., Schmitz G. Biochim. Biophys. Acta 1537:42-48(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HDLD1 LEU-1506.
[25]	"Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease." Huang W., Moriyama K., Koga T., Hua H., Ageta M., Kawabata S., Mawatari K., Imamura T., Eto T., Kawamura M., Teramoto T., Sasaki J. Biochim. Biophys. Acta 1537:71-78(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HDLD1 ASN-1289 AND TRP-2081, VARIANT LYS-219.
[26]	"Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease." Clee S.M., Zwinderman A.H., Engert J.C., Zwarts K.Y., Molhuizen H.O.F., Roomp K., Jukema J.W., van Wijland M., van Dam M., Hudson T.J., Brooks-Wilson A., Genest J. Jr., Kastelein J.J.P., Hayden M.R. Circulation 103:1198-1205(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LYS-219; ALA-399; MET-771; PRO-774; ASN-776; ILE-825; MET-883; ASP-1172; ARG-1587 AND CYS-1731.
[27]	"ABCA1(Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease." Hong S.H., Rhyne J., Zeller K., Miller M. Atherosclerosis 164:245-250(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HDLD2 LEU-85.
[28]	"Novel ABCA1 compound variant associated with HDL cholesterol deficiency." Hong S.H., Rhyne J., Zeller K., Miller M. Biochim. Biophys. Acta 1587:60-64(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HDLD2 TYR-1099 AND SER-2009.
[29]	"Expression and functional analyses of novel mutations of ATP-binding cassette transporter-1 in Japanese patients with high-density lipoprotein deficiency." Nishida Y., Hirano K., Tsukamoto K., Nagano M., Ikegami C., Roomp K., Ishihara M., Sakane N., Zhang Z., Tsujii K., Matsuyama A., Ohama T., Matsuura F., Ishigami M., Sakai N., Hiraoka H., Hattori H., Wellington C. , Yoshida Y., Misugi S., Hayden M.R., Egashira T., Yamashita S., Matsuzawa Y. Biochem. Biophys. Res. Commun. 290:713-721(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HDLD1 THR-255, VARIANT ATHEROSCLEROSIS ASP-1611.
[30]	"Lack of association between increased carotid intima-media thickening and decreased HDL-cholesterol in a family with a novel ABCA1 variant, G2265T." Hong S.H., Riley W., Rhyne J., Friel G., Miller M. Clin. Chem. 48:2066-2070(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HDLD1 LEU-590.
[31]	"Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 (ABCA1) gene in Japanese patients with Tangier disease." Guo Z., Inazu A., Yu W., Suzumura T., Okamoto M., Nohara A., Higashikata T., Sano R., Wakasugi K., Hayakawa T., Yoshida K., Suehiro T., Schmitz G., Mabuchi H. J. Hum. Genet. 47:325-329(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HDLD1 HIS-935 AND SER-935.
[32]	"Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis." Ishii J., Nagano M., Kujiraoka T., Ishihara M., Egashira T., Takada D., Tsuji M., Hattori H., Emi M. J. Hum. Genet. 47:366-369(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HDLD1 TRP-1680.
[33]	"Novel polypyrimidine variation (IVS46: del T -39._.-46) in ABCA1 causes exon skipping and contributes to HDL cholesterol deficiency in a family with premature coronary disease." Hong S.H., Rhyne J., Miller M. Circ. Res. 93:1006-1012(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HDLD1 GLN-1851.
[34]	"ABCA1 gene polymorphisms and their associations with coronary artery disease and plasma lipids in males from three ethnic populations in Singapore." Tan J.H., Low P.S., Tan Y.S., Tong M.C., Saha N., Yang H., Heng C.K. Hum. Genet. 113:106-117(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ILE-825 AND MET-883, ASSOCIATION OF VARIANTS ILE-825 AND MET-883 WITH HIGHER PLASMA HDL CHOLESTEROL.
[35]	"Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors." Morabia A., Cayanis E., Costanza M.C., Ross B.M., Flaherty M.S., Alvin G.B., Das K., Gilliam T.C. Hum. Mol. Genet. 12:2733-2743(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LYS-219; MET-771; ILE-825; MET-883; ASP-1172; PHE-1181 AND ARG-1587.
[36]	"A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia." Cenarro A., Artieda M., Castillo S., Mozas P., Reyes G., Tejedor D., Alonso R., Mata P., Pocovi M., Civeira F. J. Med. Genet. 40:163-168(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LYS-219.
[37]	"Screening for functional sequence variations and mutations in ABCA1." Probst M.C., Thumann H., Aslanidis C., Langmann T., Buechler C., Patsch W., Baralle F.E., Dallinga-Thie G.M., Geisel J., Keller C., Menys V.C., Schmitz G. Atherosclerosis 175:269-279(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HDLD1 LEU-590; ARG-840 AND CYS-1068, VARIANTS MET-771; SER-2163 AND ILE-2244.
[38]	"Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders." Pisciotta L., Hamilton-Craig I., Tarugi P., Bellocchio A., Fasano T., Alessandrini P., Bon G.B., Siepi D., Mannarino E., Cattin L., Averna M., Cefalu A.B., Cantafora A., Calandra S., Bertolini S. Atherosclerosis 172:309-320(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HDLD1 LYS-284; CYS-482; HIS-1800; SER-1901 AND HIS-2196.
[39]	"Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency." Albrecht C., Baynes K., Sardini A., Schepelmann S., Eden E.R., Davies S.W., Higgins C.F., Feher M.D., Owen J.S., Soutar A.K. Biochim. Biophys. Acta 1689:47-57(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HDLD1 PHE-1379 AND ASP-1704, CHARACTERIZATION OF VARIANTS HDLD1 PHE-1379 AND ASP-1704.
[40]	"Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population." Frikke-Schmidt R., Nordestgaard B.G., Jensen G.B., Tybjaerg-Hansen A. J. Clin. Invest. 114:1343-1353(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HDLD1 HIS-1800, VARIANTS LYS-219; CYS-364; MET-771; PRO-774; ASN-776; ILE-825; MET-883; SER-1065; ASP-1172; VAL-1216 AND ARG-1587.
[41]	"Multiple rare alleles contribute to low plasma levels of HDL cholesterol." Cohen J.C., Kiss R.S., Pertsemlidis A., Marcel Y.L., McPherson R., Hobbs H.H. Science 305:869-872(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HDLD1 HIS-1800, VARIANTS ALA-248; GLN-401; TRP-496; SER-590; GLN-638; SER-774; GLY-815; PHE-1181; THR-1341; GLY-1376; GLN-1615; THR-1670; GLN-1680 AND GLU-2243.
[42]	"A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome." Albrecht C., McVey J.H., Elliott J.I., Sardini A., Kasza I., Mumford A.D., Naoumova R.P., Tuddenham E.G., Szabo K., Higgins C.F. Blood 106:542-549(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SCOTT SYNDROME GLN-1925, CHARACTERIZATION OF VARIANT SCOTT SYNDROME GLN-1925.
[43]	"Mutation in ABCA1 predicted risk of ischemic heart disease in the Copenhagen City Heart Study Population." Frikke-Schmidt R., Nordestgaard B.G., Schnohr P., Steffensen R., Tybjaerg-Hansen A. J. Am. Coll. Cardiol. 46:1516-1520(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ASN-776, ASSOCIATION OF VARIANT ASN-776 WITH INCREASED RISK OF ISCHEMIC HEART DISEASE.
[44]	"Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency." Fasano T., Bocchi L., Pisciotta L., Bertolini S., Calandra S. J. Lipid Res. 46:817-822(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HDLD2 TRP-1897.
[45]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] ASP-210; TYR-917; THR-1407 AND THR-2109.
+	Additional computationally mapped references.

Web resources

GeneReviews

SHMPD

The Singapore human mutation and polymorphism database

ABCMdb

Database for mutations in ABC proteins

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF275948 Genomic DNA. Translation: AAF86276.1. AL353685, AL359846 Genomic DNA. Translation: CAH72444.1. AL359846, AL353685 Genomic DNA. Translation: CAH73579.1. 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.
IPI	IPI00293460.
RefSeq	NP_005493.2. NM_005502.3.
UniGene	Hs.659274.
3D structure databases
ProteinModelPortal	O95477.
SMR	O95477. Positions 898-1125, 1911-2139.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-29211N.
IntAct	O95477. 15 interactions.
MINT	MINT-239561.
PTM databases
PhosphoSite	O95477.
Proteomic databases
PaxDb	O95477.
PRIDE	O95477.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000374736; ENSP00000363868; ENSG00000165029.
GeneID	19.
KEGG	hsa:19.
UCSC	uc004bcl.3. human.
Organism-specific databases
CTD	19.
GeneCards	GC09M107543.
HGNC	HGNC:29. ABCA1.
MIM	205400. phenotype. 600046. gene+phenotype. 604091. phenotype.
neXtProt	NX_O95477.
Orphanet	425. Apolipoprotein A-I deficiency. 31150. Tangier disease.
PharmGKB	PA24373.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1131.
HOVERGEN	HBG050436.
InParanoid	O95477.
KO	K05641.
OMA	EEEWTTA.
OrthoDB	EOG44F686.
PhylomeDB	O95477.
Enzyme and pathway databases
Pathway_Interaction_DB	rxr_vdr_pathway. RXR and RAR hetrodimerization with other nuclear receptor.
Reactome	REACT_111217. Metabolism.
Gene expression databases
ArrayExpress	O95477.
Bgee	O95477.
Genevestigator	O95477.
GermOnline	ENSG00000165029. Homo sapiens.
Family and domain databases
InterPro	IPR003593. AAA+_ATPase. IPR026082. ABC_A. IPR003439. ABC_transporter-like. IPR017871. ABC_transporter_CS. [Graphical view]
PANTHER	PTHR19229. PTHR19229. 1 hit.
Pfam	PF00005. ABC_tran. 2 hits. [Graphical view]
SMART	SM00382. AAA. 2 hits. [Graphical view]
PROSITE	PS00211. ABC_TRANSPORTER_1. 1 hit. PS50893. ABC_TRANSPORTER_2. 2 hits. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	ABCA1. human.
DrugBank	DB00171. Adenosine triphosphate. DB01016. Glibenclamide.
GenomeRNAi	19.
NextBio	51.
SOURCE	Search...

Entry information

Entry name

ABCA1_HUMAN

Accession

Primary (citable) accession number: O95477
Secondary accession number(s): Q5VX33 , Q96S56, Q96T85, Q9NQV4, Q9UN06, Q9UN07, Q9UN08, Q9UN09

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
Last sequence update:	October 5, 2010
Last modified:	May 1, 2013
This is version 145 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.