Reviewed, UniProtKB/Swiss-Prot O95477 (ABCA1_HUMAN)

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=ATP-binding cassette 1
      Short name=ABC-1
    Cholesterol efflux regulatory protein

Gene names

Name:	ABCA1
Synonyms:	ABC1, CERP

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	2261 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
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.
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 an hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.
Post-translational modification	Phosphorylation on Ser-2054 regulates phospholipid efflux.
Involvement in disease	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. Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.23 Ref.24 Ref.28 Ref.29 Ref.30 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.
Sequence similarities	Belongs to the ABC transporter superfamily. ABCA family. Contains 2 ABC transporter domains.

Ontologies

Keywords
Biological process	Cholesterol metabolism Lipid metabolism Steroid metabolism Transport
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Disease	Atherosclerosis Disease mutation
Domain	Repeat Transmembrane
Ligand	ATP-binding Nucleotide-binding
PTM	Disulfide bond Glycoprotein Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	Cdc42 protein signal transduction Inferred from mutant phenotype. Source: UniProtKB G-protein coupled receptor protein signaling pathway Inferred from mutant phenotype. Source: UniProtKB cholesterol efflux Ref.16 Inferred from direct assay. Source: UniProtKB cholesterol homeostasis Ref.16 Inferred from direct assay. Source: UniProtKB cholesterol metabolic process Inferred from direct assay. Source: UniProtKB endosome transport Inferred from direct assay. Source: UniProtKB high-density lipoprotein particle assembly Ref.16 Inferred from mutant phenotype. Source: UniProtKB interleukin-1 beta secretion Inferred from mutant phenotype. Source: UniProtKB intracellular cholesterol transport Ref.16 Inferred from mutant phenotype. Source: UniProtKB lysosome organization Inferred from direct assay. Source: UniProtKB negative regulation of cholesterol storage Traceable author statement. Source: UniProtKB negative regulation of macrophage derived foam cell differentiation Traceable author statement. Source: UniProtKB phospholipid efflux Ref.16 Inferred from direct assay. Source: UniProtKB phospholipid homeostasis Inferred from mutant phenotype. Source: UniProtKB platelet dense granule organization Inferred from mutant phenotype. Source: UniProtKB positive regulation of cAMP biosynthetic process Inferred from mutant phenotype. Source: UniProtKB reverse cholesterol transport Ref.16 Inferred from mutant phenotype. Source: UniProtKB
Cellular component	integral to plasma membrane Inferred from direct assay. Source: UniProtKB membrane fraction Inferred from direct assay. Source: UniProtKB membrane raft Inferred from direct assay. Source: UniProtKB phagocytic vesicle Inferred from direct assay. Source: UniProtKB
Molecular function	ATP binding Inferred from direct assay. Source: UniProtKB ATPase activity Inferred from electronic annotation. Source: InterPro anion transmembrane transporter activity Inferred from sequence or structural similarity. Source: UniProtKB apolipoprotein A-I receptor activity Inferred from direct assay. Source: UniProtKB cholesterol binding Inferred by curator. Source: UniProtKB cholesterol transporter activity Inferred from direct assay. Source: UniProtKB phospholipid binding Inferred by curator. Source: UniProtKB phospholipid transporter activity Inferred from direct assay. Source: UniProtKB small GTPase binding Inferred from physical interaction. Source: UniProtKB syntaxin-13 binding Inferred from physical interaction. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
ARHGEF11	O15085	1	EBI-784112,EBI-311099
ARHGEF12	Q9NZN5	1	EBI-784112,EBI-821440
DLG2	Q15700	1	EBI-784112,EBI-80426
DLG3	Q92796	1	EBI-784112,EBI-80440
Lin7a	Q9Z250	1	EBI-784112,EBI-704603	From a different organism.
LIN7B	Q9HAP6	1	EBI-784112,EBI-821335
Lin7c	O88952	1	EBI-784112,EBI-821316	From a different organism.
MPDZ	O75970	1	EBI-784112,EBI-821405
SNTA1	Q13424	1	EBI-784112,EBI-717191
SNTB1	Q13884	2	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	Potential
	Topological domain	43 – 639	597	Extracellular
	Transmembrane	640 – 660	21	Potential
	Transmembrane	683 – 703	21	Potential
	Transmembrane	716 – 736	21	Potential
	Transmembrane	745 – 765	21	Potential
	Transmembrane	777 – 797	21	Potential
	Transmembrane	827 – 847	21	Potential
	Transmembrane	1041 – 1057	17	Potential
	Transmembrane	1351 – 1371	21	Potential
	Topological domain	1372 – 1656	285	Extracellular
	Transmembrane	1657 – 1677	21	Potential
	Transmembrane	1703 – 1723	21	Potential
	Transmembrane	1735 – 1755	21	Potential
	Transmembrane	1768 – 1788	21	Potential
	Transmembrane	1802 – 1822	21	Potential
	Transmembrane	1852 – 1872	21	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
	Glycosylation	14	1	N-linked (GlcNAc...) Potential
	Glycosylation	98	1	N-linked (GlcNAc...) Ref.14
	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.14
	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.13
	Disulfide bond	1463 ↔ 1477		Ref.13
Natural variations
	Natural variant	85	1	P → L in HDLD2; Alabama. Ref.26		VAR_017529
	Natural variant	210	1	E → D in a colorectal cancer sample; somatic mutation. Ref.33		VAR_035724
	Natural variant	219	1	R → K Common polymorphism; associated with a decreased severity of CAD. dbSNP rs2230806. Ref.20 Ref.24 Ref.22 Ref.25 Ref.31 Ref.32		VAR_012618
	Natural variant	230	1	R → C in HDLD2. dbSNP rs9282541. Ref.20		VAR_012619
	Natural variant	255	1	A → T in HDLD1; deficient cellular cholesterol efflux. Ref.28		VAR_012620
	Natural variant	399	1	V → A: dbSNP rs9282543. Ref.17 Ref.25		VAR_009145
	Natural variant	587	1	R → W in HDLD1. dbSNP rs2853574. Ref.21		VAR_009146
	Natural variant	590	1	W → S in HDLD1. Ref.17		VAR_009147
	Natural variant	597	1	Q → R in HDLD1. dbSNP rs2853578. Ref.16 Ref.18		VAR_009148
	Natural variant	693	1	Missing in HDLD2.		VAR_009149
	Natural variant	771	1	V → M: dbSNP rs2066718. Ref.25 Ref.31		VAR_012621
	Natural variant	774	1	T → P: dbSNP rs35819696. Ref.25		VAR_012622
	Natural variant	776	1	K → N		VAR_012623
	Natural variant	825	1	V → I Common polymorphism. dbSNP rs2066715. Ref.20 Ref.25 Ref.31		VAR_012624
	Natural variant	883	1	I → M Common polymorphism. dbSNP rs2066714. Ref.17 Ref.20 Ref.22 Ref.25 Ref.31		VAR_012625
	Natural variant	917	1	D → Y in a colorectal cancer sample; somatic mutation. Ref.33		VAR_035725
	Natural variant	929	1	T → I in HDLD1. Ref.18		VAR_012626
	Natural variant	935	1	N → H in HDLD1. dbSNP rs28937314. Ref.29		VAR_037968
	Natural variant	935	1	N → S in HDLD1. dbSNP rs28937313. Ref.17 Ref.29		VAR_009150
	Natural variant	937	1	A → V in HDLD1. Ref.17		VAR_009151
	Natural variant	1046	1	A → D in HDLD1. Ref.20		VAR_012627
	Natural variant	1054	1	V → I: dbSNP rs13306072.		VAR_037969
	Natural variant	1091	1	M → T in HDLD2. Ref.18 Ref.15		VAR_012628
	Natural variant	1099	1	D → Y in HDLD2. dbSNP rs28933692. Ref.27		VAR_017530
	Natural variant	1172	1	E → D: dbSNP rs33918808. Ref.22 Ref.25 Ref.31		VAR_012629
	Natural variant	1181	1	S → F		VAR_017016
	Natural variant	1289	1	D → N in HDLD1. Ref.19 Ref.24		VAR_009152
	Natural variant	1407	1	A → T in a colorectal cancer sample; somatic mutation. Ref.33		VAR_035726
	Natural variant	1477	1	C → R in HDLD1. Ref.16 Ref.18		VAR_009153
	Natural variant	1506	1	S → L in HDLD1. Ref.23		VAR_012630
	Natural variant	1517	1	I → R in HDLD1.		VAR_009154
	Natural variant	1555	1	T → I: dbSNP rs1997618. Ref.5		VAR_012638
	Natural variant	1587	1	R → K Common polymorphism. dbSNP rs2230808. Ref.20 Ref.25 Ref.31 Ref.5		VAR_012631
	Natural variant	1611	1	N → D Associated with atherosclerosis; deficient cellular cholesterol efflux. Ref.28		VAR_012632
	Natural variant	1648	1	P → L: dbSNP rs1883024. Ref.5		VAR_012639
	Natural variant	1680	1	R → W in HDLD1; clinical variant. Ref.30		VAR_037970
	Natural variant	1731	1	S → C		VAR_012633
	Natural variant	1800	1	N → H in HDLD1. Ref.19		VAR_009155
	Natural variant	1893 – 1894	2	Missing in HDLD2.		VAR_012634
	Natural variant	2009	1	F → S in HDLD2. Ref.27		VAR_037971
	Natural variant	2081	1	R → W in HDLD1. Ref.24		VAR_012635
	Natural variant	2109	1	A → T in a colorectal cancer sample; somatic mutation. Ref.33		VAR_035727
	Natural variant	2150	1	P → L in HDLD2. Ref.18		VAR_012636
	Natural variant	2168	1	P → L: dbSNP rs2853577. Ref.21 Ref.5		VAR_012637
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)
	O95477-1 [UniParc]. Last modified February 21, 2001. Version 2. Checksum: 5C2A41ADCF4FBAAC	FASTA	2,261	254,286
	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 VNDATKQMKK 1570 1580 1590 1600 1610 1620 HLKLAKDSSA DRFLNSLGRF MTGLDTRNNV KVWFNNKGWH AISSFLNVIN NAILRANLQK 1630 1640 1650 1660 1670 1680 GENPSHYGIT AFNHPLNLTK QQLSEVAPMT 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 LAFPGSVPKE 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: 10884428] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[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]. 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: 11352567] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[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: 15164053] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS ILE-1555; LYS-1587; LEU-1648 AND LEU-2168.
[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: 10092505] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 21-2261.
[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: 10431238] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 21-2261.
[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: 12196520] [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: 11279031] [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: 12032171] [Abstract] Cited for: INDUCTION BY LIPOPOLYSACCHARIDE.
[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: 17205124] [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: 12763760] [Abstract] Cited for: REVIEW ON VARIANTS.
[13]	"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: 19258317] [Abstract] Cited for: DISULFIDE BONDS, SUBCELLULAR LOCATION.
[14]	"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: 19159218] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-98 AND ASN-244, MASS SPECTROMETRY. Tissue: Liver.
[15]	"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: 10533863] [Abstract] Cited for: VARIANTS HDLD2 THR-1091 AND 1893-GLU-ASP-1894 DEL.
[16]	"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: 10431236] [Abstract] Cited for: VARIANTS HDLD1 ARG-597 AND ARG-1477, VARIANT HDLD2 LEU-693 DEL.
[17]	"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: 10431237] [Abstract] Cited for: VARIANTS HDLD1 SER-590; SER-935 AND VAL-937, VARIANTS ALA-399 AND MET-883.
[18]	"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: 11086027] [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.
[19]	"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: 10706591] [Abstract] Cited for: VARIANTS HDLD1 ASN-1289 AND HIS-1800.
[20]	"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: 10938021] [Abstract] Cited for: VARIANT HDLD1 ASP-1046, VARIANT HDLD2 CYS-230, VARIANTS LYS-219; ILE-825; MET-883 AND LYS-1587.
[21]	"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: 11257260] [Abstract] Cited for: VARIANT HDLD1 TRP-587, VARIANT LEU-2168.
[22]	"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: 11257261] [Abstract] Cited for: VARIANTS LYS-219; MET-883 AND ASP-1172.
[23]	"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: 11476961] [Abstract] Cited for: VARIANT HDLD1 LEU-1506.
[24]	"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: 11476965] [Abstract] Cited for: VARIANTS HDLD1 ASN-1289 AND TRP-2081, VARIANT LYS-219.
[25]	"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: 11238261] [Abstract] Cited for: VARIANTS LYS-219; ALA-399; MET-771; PRO-774; ASN-776; ILE-825; MET-883; ASP-1172; LYS-1587 AND CYS-1731.
[26]	"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: 12204794] [Abstract] Cited for: VARIANT HDLD2 LEU-85.
[27]	"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: 12009425] [Abstract] Cited for: VARIANTS HDLD2 TYR-1099 AND SER-2009.
[28]	"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: 11785958] [Abstract] Cited for: VARIANT HDLD1 THR-255, VARIANT ATHEROSCLEROSIS ASP-1611.
[29]	"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: 12111381] [Abstract] Cited for: VARIANTS HDLD1 HIS-935 AND SER-935.
[30]	"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: 12111371] [Abstract] Cited for: VARIANT HDLD1 TRP-1680.
[31]	"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: 12966036] [Abstract] Cited for: VARIANTS LYS-219; MET-771; ILE-825; MET-883; ASP-1172; PHE-1181 AND LYS-1587.
[32]	"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: 12624133] [Abstract] Cited for: VARIANT LYS-219.
[33]	"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: 16959974] [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

Cross-references

Sequence databases
EMBLGenBankDDBJ	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.
UniGene	Hs.429294
3D structure databases
ModBase	Search...
Protein-protein interaction databases
DIP	DIP:29211N.
IntAct	O95477. 13 interactions.
STRING	O95477.
PTM databases
PhosphoSite	O95477.
Proteomic databases
PRIDE	O95477.
Genome annotation databases
Ensembl	ENST00000374736; ENSP00000363868; ENSG00000165029; Homo sapiens. [Genome view]
GeneID	19.
KEGG	hsa:19.
Organism-specific databases
CTD	19.
GeneCards	GC09M106583.
HGNC	HGNC:29. ABCA1.
MIM	205400. phenotype. 600046. gene+phenotype. 604091. phenotype.
Orphanet	425. Apolipoprotein A-I deficiency. 31150. Tangier disease.
PharmGKB	PA24373.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	O95477.
Enzyme and pathway databases
Pathway_Interaction_DB	rxr_vdr_pathway. RXR and RAR hetrodimerization with other nuclear receptor.
Reactome	REACT_602. Metabolism of lipids and lipoproteins.
Gene expression databases
ArrayExpress	O95477.
Bgee	O95477.
Genevestigator	O95477.
GermOnline	ENSG00000165029. Homo sapiens.
Family and domain databases
InterPro	IPR003439. ABC_transporter-like. IPR017871. ABC_transporter_CS. IPR003593. ATPase_AAA+_core. [Graphical view]
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 Resources
DrugBank	DB00171. Adenosine triphosphate. DB01016. Glibenclamide.
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:	February 21, 2001
Last modified:	November 24, 2009
This is version 111 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.