Q9BZC7 (ABCA2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
ATP-binding cassette sub-family A member 2

Alternative name(s):
ATP-binding cassette transporter 2
Short name=ATP-binding cassette 2

Gene names

Name:	ABCA2
Synonyms:	ABC2, KIAA1062

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	2435 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Probable transporter, its natural substrate has not been found yet. May have a role in macrophage lipid metabolism and neural development.
Subcellular location	Endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein. Note: Forms discrete, punctate intracellular vesicles. Ref.2
Tissue specificity	Highly expressed in the brain, whereas lower levels of expression is observed in kidney and liver. Ref.2
Sequence similarities	Belongs to the ABC transporter superfamily. ABCA family. Contains 2 ABC transporter domains.

Ontologies

Keywords
Biological process	Transport
Cellular component	Endosome Lysosome Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Transmembrane Transmembrane helix
Ligand	ATP-binding Nucleotide-binding
PTM	Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cholesterol homeostasis Inferred from expression pattern PubMed 15238223. Source: UniProtKB lipid metabolic process Non-traceable author statement Ref.1. Source: UniProtKB regulation of intracellular cholesterol transport Inferred from mutant phenotype PubMed 15238223. Source: UniProtKB regulation of transcription from RNA polymerase II promoter Inferred from direct assay PubMed 15238223. Source: UniProtKB response to drug Traceable author statement PubMed 12363033. Source: UniProtKB response to steroid hormone stimulus Inferred from expression pattern PubMed 15238223. Source: UniProtKB
Cellular_component	ATP-binding cassette (ABC) transporter complex Non-traceable author statement Ref.1. Source: UniProtKB cytoplasmic membrane-bounded vesicle Inferred from sequence or structural similarity. Source: UniProtKB endosome Inferred from direct assay Ref.2. Source: UniProtKB endosome membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from direct assay PubMed 15999530. Source: UniProtKB lysosomal membrane Inferred from electronic annotation. Source: UniProtKB-SubCell lysosome Inferred from direct assay Ref.2. Source: UniProtKB microtubule organizing center Inferred from sequence or structural similarity. Source: UniProtKB
Molecular_function	ATP binding Inferred from direct assay PubMed 15999530. Source: UniProtKB ATPase activity, coupled to transmembrane movement of substances Non-traceable author statement PubMed 7766993. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9BZC7-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9BZC7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     2059-2090: YKSRKIGRILAVDRLCLGVRPGECFGLLGVNG → GSGHVGWGLGGVGQGQGGGAPAVEVEPGWAGP
     2091-2435: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q9BZC7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     53-54: EA → EVS

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2435	2435	ATP-binding cassette sub-family A member 2		PRO_0000093290
Regions
	Transmembrane	22 – 42	21	Helical; Potential
	Transmembrane	54 – 74	21	Helical; Potential
	Transmembrane	699 – 719	21	Helical; Potential
	Transmembrane	750 – 770	21	Helical; Potential
	Transmembrane	782 – 802	21	Helical; Potential
	Transmembrane	813 – 833	21	Helical; Potential
	Transmembrane	857 – 877	21	Helical; Potential
	Transmembrane	893 – 913	21	Helical; Potential
	Transmembrane	1456 – 1476	21	Helical; Potential
	Transmembrane	1792 – 1812	21	Helical; Potential
	Transmembrane	1841 – 1861	21	Helical; Potential
	Transmembrane	1872 – 1892	21	Helical; Potential
	Transmembrane	1905 – 1925	21	Helical; Potential
	Transmembrane	1991 – 2011	21	Helical; Potential
	Domain	990 – 1221	232	ABC transporter 1
	Domain	2050 – 2285	236	ABC transporter 2
	Nucleotide binding	1024 – 1031	8	ATP 1 Potential
	Nucleotide binding	2087 – 2094	8	ATP 2 Potential
Amino acid modifications
	Modified residue	1327	1	Phosphoserine Ref.6
	Modified residue	1331	1	Phosphoserine Ref.6
	Modified residue	2412	1	Phosphothreonine Ref.7
	Glycosylation	14	1	N-linked (GlcNAc...) Potential
	Glycosylation	89	1	N-linked (GlcNAc...) Potential
	Glycosylation	168	1	N-linked (GlcNAc...) Potential
	Glycosylation	173	1	N-linked (GlcNAc...) Potential
	Glycosylation	305	1	N-linked (GlcNAc...) Potential
	Glycosylation	368	1	N-linked (GlcNAc...) Potential
	Glycosylation	379	1	N-linked (GlcNAc...) Potential
	Glycosylation	420	1	N-linked (GlcNAc...) Potential
	Glycosylation	432	1	N-linked (GlcNAc...) Potential
	Glycosylation	476	1	N-linked (GlcNAc...) Potential
	Glycosylation	484	1	N-linked (GlcNAc...) Potential
	Glycosylation	494	1	N-linked (GlcNAc...) Potential
	Glycosylation	530	1	N-linked (GlcNAc...) Potential
	Glycosylation	544	1	N-linked (GlcNAc...) Potential
	Glycosylation	590	1	N-linked (GlcNAc...) Potential
	Glycosylation	600	1	N-linked (GlcNAc...) Potential
	Glycosylation	628	1	N-linked (GlcNAc...) Potential
	Glycosylation	1408	1	N-linked (GlcNAc...) Potential
	Glycosylation	1496	1	N-linked (GlcNAc...) Potential
	Glycosylation	1549	1	N-linked (GlcNAc...) Potential
	Glycosylation	1557	1	N-linked (GlcNAc...) Potential
	Glycosylation	1612	1	N-linked (GlcNAc...) Potential
	Glycosylation	1677	1	N-linked (GlcNAc...) Potential
	Glycosylation	1775	1	N-linked (GlcNAc...) Potential
	Glycosylation	2054	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	53 – 54	2	EA → EVS in isoform 3.		VSP_040937
	Alternative sequence	2059 – 2090	32	YKSRK…LGVNG → GSGHVGWGLGGVGQGQGGGA PAVEVEPGWAGP in isoform 2.		VSP_035283
	Alternative sequence	2091 – 2435	345	Missing in isoform 2.		VSP_035284
	Natural variant	583	1	H → P. Ref.1 Ref.2 Corresponds to variant rs908828 [ dbSNP | Ensembl ].		VAR_044526
	Natural variant	674	1	F → V. Corresponds to variant rs2090625 [ dbSNP | Ensembl ].		VAR_044527
Experimental info
	Sequence conflict	2079	1	P → L in AAK14335. Ref.1
Isoform 3:
	Sequence conflict	55	1	S → P in AAK14334. Ref.1
	Sequence conflict	55	1	S → P in AAK14335. Ref.1
	Sequence conflict	55	1	S → P in AAG09372. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified September 23, 2008. Version 3. Checksum: 0C4ABE9087BEC5C4	FASTA	2,435	269,873
	10 20 30 40 50 60 MGFLHQLQLL LWKNVTLKRR SPWVLAFEIF IPLVLFFILL GLRQKKPTIS VKEAFYTAAP 70 80 90 100 110 120 LTSAGILPVM QSLCPDGQRD EFGFLQYANS TVTQLLERLD RVVEEGNLFD PARPSLGSEL 130 140 150 160 170 180 EALRQHLEAL SAGPGTSGSH LDRSTVSSFS LDSVARNPQE LWRFLTQNLS LPNSTAQALL 190 200 210 220 230 240 AARVDPPEVY HLLFGPSSAL DSQSGLHKGQ EPWSRLGGNP LFRMEELLLA PALLEQLTCT 250 260 270 280 290 300 PGSGELGRIL TVPESQKGAL QGYRDAVCSG QAAARARRFS GLSAELRNQL DVAKVSQQLG 310 320 330 340 350 360 LDAPNGSDSS PQAPPPRRLQ ALLGDLLDAQ KVLQDVDVLS ALALLLPQGA CTGRTPGPPA 370 380 390 400 410 420 SGAGGAANGT GAGAVMGPNA TAEEGAPSAA ALATPDTLQG QCSAFVQLWA GLQPILCGNN 430 440 450 460 470 480 RTIEPEALRR GNMSSLGFTS KEQRNLGLLV HLMTSNPKIL YAPAGSEVDR VILKANETFA 490 500 510 520 530 540 FVGNVTHYAQ VWLNISAEIR SFLEQGRLQQ HLRWLQQYVA ELRLHPEALN LSLDELPPAL 550 560 570 580 590 600 RQDNFSLPSG MALLQQLDTI DNAACGWIQF MSKVSVDIFK GFHDEESIVN YTLNQAYQDN 610 620 630 640 650 660 VTVFASVIFQ TRKDGSLPPH VHYKIRQNSS FTEKTNEIRR AYWRPGPNTG GRFYFLYGFV 670 680 690 700 710 720 WIQDMMERAI IDTFVGHDVV EPGSYVQMFP YPCYTRDDFL FVIEHMMPLC MVISWVYSVA 730 740 750 760 770 780 MTIQHIVAEK EHRLKEVMKT MGLNNAVHWV AWFITGFVQL SISVTALTAI LKYGQVLMHS 790 800 810 820 830 840 HVVIIWLFLA VYAVATIMFC FLVSVLYSKA KLASACGGII YFLSYVPYMY VAIREEVAHD 850 860 870 880 890 900 KITAFEKCIA SLMSTTAFGL GSKYFALYEV AGVGIQWHTF SQSPVEGDDF NLLLAVTMLM 910 920 930 940 950 960 VDAVVYGILT WYIEAVHPGM YGLPRPWYFP LQKSYWLGSG RTEAWEWSWP WARTPRLSVM 970 980 990 1000 1010 1020 EEDQACAMES RRFEETRGME EEPTHLPLVV CVDKLTKVYK DDKKLALNKL SLNLYENQVV 1030 1040 1050 1060 1070 1080 SFLGHNGAGK TTTMSILTGL FPPTSGSATI YGHDIRTEMD EIRKNLGMCP QHNVLFDRLT 1090 1100 1110 1120 1130 1140 VEEHLWFYSR LKSMAQEEIR REMDKMIEDL ELSNKRHSLV QTLSGGMKRK LSVAIAFVGG 1150 1160 1170 1180 1190 1200 SRAIILDEPT AGVDPYARRA IWDLILKYKP GRTILLSTHH MDEADLLGDR IAIISHGKLK 1210 1220 1230 1240 1250 1260 CCGSPLFLKG TYGDGYRLTL VKRPAEPGGP QEPGLASSPP GRAPLSSCSE LQVSQFIRKH 1270 1280 1290 1300 1310 1320 VASCLLVSDT STELSYILPS EAAKKGAFER LFQHLERSLD ALHLSSFGLM DTTLEEVFLK 1330 1340 1350 1360 1370 1380 VSEEDQSLEN SEADVKESRK DVLPGAEGPA SGEGHAGNLA RCSELTQSQA SLQSASSVGS 1390 1400 1410 1420 1430 1440 ARGDEGAGYT DVYGDYRPLF DNPQDPDNVS LQEVEAEALS RVGQGSRKLD GGWLKVRQFH 1450 1460 1470 1480 1490 1500 GLLVKRFHCA RRNSKALFSQ ILLPAFFVCV AMTVALSVPE IGDLPPLVLS PSQYHNYTQP 1510 1520 1530 1540 1550 1560 RGNFIPYANE ERREYRLRLS PDASPQQLVS TFRLPSGVGA TCVLKSPANG SLGPTLNLSS 1570 1580 1590 1600 1610 1620 GESRLLAARF FDSMCLESFT QGLPLSNFVP PPPSPAPSDS PASPDEDLQA WNVSLPPTAG 1630 1640 1650 1660 1670 1680 PEMWTSAPSL PRLVREPVRC TCSAQGTGFS CPSSVGGHPP QMRVVTGDIL TDITGHNVSE 1690 1700 1710 1720 1730 1740 YLLFTSDRFR LHRYGAITFG NVLKSIPASF GTRAPPMVRK IAVRRAAQVF YNNKGYHSMP 1750 1760 1770 1780 1790 1800 TYLNSLNNAI LRANLPKSKG NPAAYGITVT NHPMNKTSAS LSLDYLLQGT DVVIAIFIIV 1810 1820 1830 1840 1850 1860 AMSFVPASFV VFLVAEKSTK AKHLQFVSGC NPIIYWLANY VWDMLNYLVP ATCCVIILFV 1870 1880 1890 1900 1910 1920 FDLPAYTSPT NFPAVLSLFL LYGWSITPIM YPASFWFEVP SSAYVFLIVI NLFIGITATV 1930 1940 1950 1960 1970 1980 ATFLLQLFEH DKDLKVVNSY LKSCFLIFPN YNLGHGLMEM AYNEYINEYY AKIGQFDKMK 1990 2000 2010 2020 2030 2040 SPFEWDIVTR GLVAMAVEGV VGFLLTIMCQ YNFLRRPQRM PVSTKPVEDD VDVASERQRV 2050 2060 2070 2080 2090 2100 LRGDADNDMV KIENLTKVYK SRKIGRILAV DRLCLGVRPG ECFGLLGVNG AGKTSTFKML 2110 2120 2130 2140 2150 2160 TGDESTTGGE AFVNGHSVLK ELLQVQQSLG YCPQCDALFD ELTAREHLQL YTRLRGISWK 2170 2180 2190 2200 2210 2220 DEARVVKWAL EKLELTKYAD KPAGTYSGGN KRKLSTAIAL IGYPAFIFLD EPTTGMDPKA 2230 2240 2250 2260 2270 2280 RRFLWNLILD LIKTGRSVVL TSHSMEECEA LCTRLAIMVN GRLRCLGSIQ HLKNRFGDGY 2290 2300 2310 2320 2330 2340 MITVRTKSSQ SVKDVVRFFN RNFPEAMLKE RHHTKVQYQL KSEHISLAQV FSKMEQVSGV 2350 2360 2370 2380 2390 2400 LGIEDYSVSQ TTLDNVFVNF AKKQSDNLEQ QETEPPSALQ SPLGCLLSLL RPRSAPTELR 2410 2420 2430 ALVADEPEDL DTEDEGLISF EEERAQLSFN TDTLC
	Isoform 2 [UniParc]. Checksum: 0E8343980AF61548	FASTA	2,090	230,564
	10 20 30 40 50 60 MGFLHQLQLL LWKNVTLKRR SPWVLAFEIF IPLVLFFILL GLRQKKPTIS VKEAFYTAAP 70 80 90 100 110 120 LTSAGILPVM QSLCPDGQRD EFGFLQYANS TVTQLLERLD RVVEEGNLFD PARPSLGSEL 130 140 150 160 170 180 EALRQHLEAL SAGPGTSGSH LDRSTVSSFS LDSVARNPQE LWRFLTQNLS LPNSTAQALL 190 200 210 220 230 240 AARVDPPEVY HLLFGPSSAL DSQSGLHKGQ EPWSRLGGNP LFRMEELLLA PALLEQLTCT 250 260 270 280 290 300 PGSGELGRIL TVPESQKGAL QGYRDAVCSG QAAARARRFS GLSAELRNQL DVAKVSQQLG 310 320 330 340 350 360 LDAPNGSDSS PQAPPPRRLQ ALLGDLLDAQ KVLQDVDVLS ALALLLPQGA CTGRTPGPPA 370 380 390 400 410 420 SGAGGAANGT GAGAVMGPNA TAEEGAPSAA ALATPDTLQG QCSAFVQLWA GLQPILCGNN 430 440 450 460 470 480 RTIEPEALRR GNMSSLGFTS KEQRNLGLLV HLMTSNPKIL YAPAGSEVDR VILKANETFA 490 500 510 520 530 540 FVGNVTHYAQ VWLNISAEIR SFLEQGRLQQ HLRWLQQYVA ELRLHPEALN LSLDELPPAL 550 560 570 580 590 600 RQDNFSLPSG MALLQQLDTI DNAACGWIQF MSKVSVDIFK GFHDEESIVN YTLNQAYQDN 610 620 630 640 650 660 VTVFASVIFQ TRKDGSLPPH VHYKIRQNSS FTEKTNEIRR AYWRPGPNTG GRFYFLYGFV 670 680 690 700 710 720 WIQDMMERAI IDTFVGHDVV EPGSYVQMFP YPCYTRDDFL FVIEHMMPLC MVISWVYSVA 730 740 750 760 770 780 MTIQHIVAEK EHRLKEVMKT MGLNNAVHWV AWFITGFVQL SISVTALTAI LKYGQVLMHS 790 800 810 820 830 840 HVVIIWLFLA VYAVATIMFC FLVSVLYSKA KLASACGGII YFLSYVPYMY VAIREEVAHD 850 860 870 880 890 900 KITAFEKCIA SLMSTTAFGL GSKYFALYEV AGVGIQWHTF SQSPVEGDDF NLLLAVTMLM 910 920 930 940 950 960 VDAVVYGILT WYIEAVHPGM YGLPRPWYFP LQKSYWLGSG RTEAWEWSWP WARTPRLSVM 970 980 990 1000 1010 1020 EEDQACAMES RRFEETRGME EEPTHLPLVV CVDKLTKVYK DDKKLALNKL SLNLYENQVV 1030 1040 1050 1060 1070 1080 SFLGHNGAGK TTTMSILTGL FPPTSGSATI YGHDIRTEMD EIRKNLGMCP QHNVLFDRLT 1090 1100 1110 1120 1130 1140 VEEHLWFYSR LKSMAQEEIR REMDKMIEDL ELSNKRHSLV QTLSGGMKRK LSVAIAFVGG 1150 1160 1170 1180 1190 1200 SRAIILDEPT AGVDPYARRA IWDLILKYKP GRTILLSTHH MDEADLLGDR IAIISHGKLK 1210 1220 1230 1240 1250 1260 CCGSPLFLKG TYGDGYRLTL VKRPAEPGGP QEPGLASSPP GRAPLSSCSE LQVSQFIRKH 1270 1280 1290 1300 1310 1320 VASCLLVSDT STELSYILPS EAAKKGAFER LFQHLERSLD ALHLSSFGLM DTTLEEVFLK 1330 1340 1350 1360 1370 1380 VSEEDQSLEN SEADVKESRK DVLPGAEGPA SGEGHAGNLA RCSELTQSQA SLQSASSVGS 1390 1400 1410 1420 1430 1440 ARGDEGAGYT DVYGDYRPLF DNPQDPDNVS LQEVEAEALS RVGQGSRKLD GGWLKVRQFH 1450 1460 1470 1480 1490 1500 GLLVKRFHCA RRNSKALFSQ ILLPAFFVCV AMTVALSVPE IGDLPPLVLS PSQYHNYTQP 1510 1520 1530 1540 1550 1560 RGNFIPYANE ERREYRLRLS PDASPQQLVS TFRLPSGVGA TCVLKSPANG SLGPTLNLSS 1570 1580 1590 1600 1610 1620 GESRLLAARF FDSMCLESFT QGLPLSNFVP PPPSPAPSDS PASPDEDLQA WNVSLPPTAG 1630 1640 1650 1660 1670 1680 PEMWTSAPSL PRLVREPVRC TCSAQGTGFS CPSSVGGHPP QMRVVTGDIL TDITGHNVSE 1690 1700 1710 1720 1730 1740 YLLFTSDRFR LHRYGAITFG NVLKSIPASF GTRAPPMVRK IAVRRAAQVF YNNKGYHSMP 1750 1760 1770 1780 1790 1800 TYLNSLNNAI LRANLPKSKG NPAAYGITVT NHPMNKTSAS LSLDYLLQGT DVVIAIFIIV 1810 1820 1830 1840 1850 1860 AMSFVPASFV VFLVAEKSTK AKHLQFVSGC NPIIYWLANY VWDMLNYLVP ATCCVIILFV 1870 1880 1890 1900 1910 1920 FDLPAYTSPT NFPAVLSLFL LYGWSITPIM YPASFWFEVP SSAYVFLIVI NLFIGITATV 1930 1940 1950 1960 1970 1980 ATFLLQLFEH DKDLKVVNSY LKSCFLIFPN YNLGHGLMEM AYNEYINEYY AKIGQFDKMK 1990 2000 2010 2020 2030 2040 SPFEWDIVTR GLVAMAVEGV VGFLLTIMCQ YNFLRRPQRM PVSTKPVEDD VDVASERQRV 2050 2060 2070 2080 2090 LRGDADNDMV KIENLTKVGS GHVGWGLGGV GQGQGGGAPA VEVEPGWAGP
	Isoform 3 [UniParc]. Checksum: AF887122E85CA013	FASTA	2,436	269,988
	10 20 30 40 50 60 MGFLHQLQLL LWKNVTLKRR SPWVLAFEIF IPLVLFFILL GLRQKKPTIS VKEVSFYTAA 70 80 90 100 110 120 PLTSAGILPV MQSLCPDGQR DEFGFLQYAN STVTQLLERL DRVVEEGNLF DPARPSLGSE 130 140 150 160 170 180 LEALRQHLEA LSAGPGTSGS HLDRSTVSSF SLDSVARNPQ ELWRFLTQNL SLPNSTAQAL 190 200 210 220 230 240 LAARVDPPEV YHLLFGPSSA LDSQSGLHKG QEPWSRLGGN PLFRMEELLL APALLEQLTC 250 260 270 280 290 300 TPGSGELGRI LTVPESQKGA LQGYRDAVCS GQAAARARRF SGLSAELRNQ LDVAKVSQQL 310 320 330 340 350 360 GLDAPNGSDS SPQAPPPRRL QALLGDLLDA QKVLQDVDVL SALALLLPQG ACTGRTPGPP 370 380 390 400 410 420 ASGAGGAANG TGAGAVMGPN ATAEEGAPSA AALATPDTLQ GQCSAFVQLW AGLQPILCGN 430 440 450 460 470 480 NRTIEPEALR RGNMSSLGFT SKEQRNLGLL VHLMTSNPKI LYAPAGSEVD RVILKANETF 490 500 510 520 530 540 AFVGNVTHYA QVWLNISAEI RSFLEQGRLQ QHLRWLQQYV AELRLHPEAL NLSLDELPPA 550 560 570 580 590 600 LRQDNFSLPS GMALLQQLDT IDNAACGWIQ FMSKVSVDIF KGFHDEESIV NYTLNQAYQD 610 620 630 640 650 660 NVTVFASVIF QTRKDGSLPP HVHYKIRQNS SFTEKTNEIR RAYWRPGPNT GGRFYFLYGF 670 680 690 700 710 720 VWIQDMMERA IIDTFVGHDV VEPGSYVQMF PYPCYTRDDF LFVIEHMMPL CMVISWVYSV 730 740 750 760 770 780 AMTIQHIVAE KEHRLKEVMK TMGLNNAVHW VAWFITGFVQ LSISVTALTA ILKYGQVLMH 790 800 810 820 830 840 SHVVIIWLFL AVYAVATIMF CFLVSVLYSK AKLASACGGI IYFLSYVPYM YVAIREEVAH 850 860 870 880 890 900 DKITAFEKCI ASLMSTTAFG LGSKYFALYE VAGVGIQWHT FSQSPVEGDD FNLLLAVTML 910 920 930 940 950 960 MVDAVVYGIL TWYIEAVHPG MYGLPRPWYF PLQKSYWLGS GRTEAWEWSW PWARTPRLSV 970 980 990 1000 1010 1020 MEEDQACAME SRRFEETRGM EEEPTHLPLV VCVDKLTKVY KDDKKLALNK LSLNLYENQV 1030 1040 1050 1060 1070 1080 VSFLGHNGAG KTTTMSILTG LFPPTSGSAT IYGHDIRTEM DEIRKNLGMC PQHNVLFDRL 1090 1100 1110 1120 1130 1140 TVEEHLWFYS RLKSMAQEEI RREMDKMIED LELSNKRHSL VQTLSGGMKR KLSVAIAFVG 1150 1160 1170 1180 1190 1200 GSRAIILDEP TAGVDPYARR AIWDLILKYK PGRTILLSTH HMDEADLLGD RIAIISHGKL 1210 1220 1230 1240 1250 1260 KCCGSPLFLK GTYGDGYRLT LVKRPAEPGG PQEPGLASSP PGRAPLSSCS ELQVSQFIRK 1270 1280 1290 1300 1310 1320 HVASCLLVSD TSTELSYILP SEAAKKGAFE RLFQHLERSL DALHLSSFGL MDTTLEEVFL 1330 1340 1350 1360 1370 1380 KVSEEDQSLE NSEADVKESR KDVLPGAEGP ASGEGHAGNL ARCSELTQSQ ASLQSASSVG 1390 1400 1410 1420 1430 1440 SARGDEGAGY TDVYGDYRPL FDNPQDPDNV SLQEVEAEAL SRVGQGSRKL DGGWLKVRQF 1450 1460 1470 1480 1490 1500 HGLLVKRFHC ARRNSKALFS QILLPAFFVC VAMTVALSVP EIGDLPPLVL SPSQYHNYTQ 1510 1520 1530 1540 1550 1560 PRGNFIPYAN EERREYRLRL SPDASPQQLV STFRLPSGVG ATCVLKSPAN GSLGPTLNLS 1570 1580 1590 1600 1610 1620 SGESRLLAAR FFDSMCLESF TQGLPLSNFV PPPPSPAPSD SPASPDEDLQ AWNVSLPPTA 1630 1640 1650 1660 1670 1680 GPEMWTSAPS LPRLVREPVR CTCSAQGTGF SCPSSVGGHP PQMRVVTGDI LTDITGHNVS 1690 1700 1710 1720 1730 1740 EYLLFTSDRF RLHRYGAITF GNVLKSIPAS FGTRAPPMVR KIAVRRAAQV FYNNKGYHSM 1750 1760 1770 1780 1790 1800 PTYLNSLNNA ILRANLPKSK GNPAAYGITV TNHPMNKTSA SLSLDYLLQG TDVVIAIFII 1810 1820 1830 1840 1850 1860 VAMSFVPASF VVFLVAEKST KAKHLQFVSG CNPIIYWLAN YVWDMLNYLV PATCCVIILF 1870 1880 1890 1900 1910 1920 VFDLPAYTSP TNFPAVLSLF LLYGWSITPI MYPASFWFEV PSSAYVFLIV INLFIGITAT 1930 1940 1950 1960 1970 1980 VATFLLQLFE HDKDLKVVNS YLKSCFLIFP NYNLGHGLME MAYNEYINEY YAKIGQFDKM 1990 2000 2010 2020 2030 2040 KSPFEWDIVT RGLVAMAVEG VVGFLLTIMC QYNFLRRPQR MPVSTKPVED DVDVASERQR 2050 2060 2070 2080 2090 2100 VLRGDADNDM VKIENLTKVY KSRKIGRILA VDRLCLGVRP GECFGLLGVN GAGKTSTFKM 2110 2120 2130 2140 2150 2160 LTGDESTTGG EAFVNGHSVL KELLQVQQSL GYCPQCDALF DELTAREHLQ LYTRLRGISW 2170 2180 2190 2200 2210 2220 KDEARVVKWA LEKLELTKYA DKPAGTYSGG NKRKLSTAIA LIGYPAFIFL DEPTTGMDPK 2230 2240 2250 2260 2270 2280 ARRFLWNLIL DLIKTGRSVV LTSHSMEECE ALCTRLAIMV NGRLRCLGSI QHLKNRFGDG 2290 2300 2310 2320 2330 2340 YMITVRTKSS QSVKDVVRFF NRNFPEAMLK ERHHTKVQYQ LKSEHISLAQ VFSKMEQVSG 2350 2360 2370 2380 2390 2400 VLGIEDYSVS QTTLDNVFVN FAKKQSDNLE QQETEPPSAL QSPLGCLLSL LRPRSAPTEL 2410 2420 2430 RALVADEPED LDTEDEGLIS FEEERAQLSF NTDTLC

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Complete coding sequence, promoter region, and genomic structure of the human ABCA2 gene and evidence for sterol-dependent regulation in macrophages." Kaminski W.E., Piehler A., Pullmann K., Porsch-Oezcueruemez M., Duong C., Bared G.M., Buchler C., Schmitz G. Biochem. Biophys. Res. Commun. 281:249-258(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 3), VARIANT PRO-583.
[2]	"Cloning and characterization of human adenosine 5'-triphosphate-binding cassette, sub-family A, transporter 2." Vulevic B., Chen Z., Boyd J.T., Davis W. Jr., Walsh E.S., Belinsky M.G., Tew K.D. Cancer Res. 61:3339-3347(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), TISSUE SPECIFICITY, SUBCELLULAR LOCATION, VARIANT PRO-583. Tissue: Brain.
[3]	"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].
[4]	"Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Kikuno R., Nagase T., Ishikawa K., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 6:197-205(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 651-2435 (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 665-2435 (ISOFORM 1). Tissue: Brain.
[5]	"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones." Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T. DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract] Cited for: SEQUENCE REVISION.
[6]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1327 AND SER-1331, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[7]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-2412, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
+	Additional computationally mapped references.

Web resources

ABCMdb

Database for mutations in ABC proteins

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF327657 mRNA. Translation: AAK14334.1. AF327705 , AF327658, AF327659, AF327660, AF327661, AF327662, AF327663, AF327664, AF327665, AF327666, AF327667, AF327668, AF327669, AF327670, AF327671, AF327672, AF327673, AF327674, AF327675, AF327676, AF327677, AF327678, AF327679, AF327680, AF327681, AF327682, AF327683, AF327684, AF327685, AF327686, AF327687, AF327688, AF327689, AF327690, AF327691, AF327692, AF327693, AF327694, AF327695, AF327696, AF327697, AF327698, AF327699, AF327700, AF327701, AF327702, AF327703, AF327704 Genomic DNA. Translation: AAK14335.1. AF178941 mRNA. Translation: AAG09372.1. AL807752 Genomic DNA. Translation: CAI12768.1. AB028985 mRNA. Translation: BAA83014.2. AB177854 mRNA. Translation: BAD66832.1.
IPI	IPI00307592. IPI00937612. IPI01009012.
PIR	A59189.
RefSeq	NP_001597.2. NM_001606.4. NP_997698.1. NM_212533.2.
UniGene	Hs.421202.
3D structure databases
ProteinModelPortal	Q9BZC7.
SMR	Q9BZC7. Positions 990-1214, 2049-2280.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BZC7. 3 interactions.
STRING	9606.ENSP00000344155.
Protein family/group databases
TCDB	3.A.1.211.3. ATP-binding cassette (ABC) superfamily.
PTM databases
PhosphoSite	Q9BZC7.
Polymorphism databases
DMDM	206729923.
Proteomic databases
PaxDb	Q9BZC7.
PRIDE	Q9BZC7.
Protocols and materials databases
DNASU	20.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000341511; ENSP00000344155; ENSG00000107331. ENST00000371605; ENSP00000360666; ENSG00000107331.
GeneID	20.
KEGG	hsa:20.
UCSC	uc004ckl.1. human. uc022bpy.1. human.
Organism-specific databases
CTD	20.
GeneCards	GC09M139901.
HGNC	HGNC:32. ABCA2.
HPA	HPA042886.
MIM	600047. gene.
neXtProt	NX_Q9BZC7.
PharmGKB	PA24377.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1131.
HOGENOM	HOG000231547.
HOVERGEN	HBG050436.
KO	K05642.
Enzyme and pathway databases
Reactome	REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
ArrayExpress	Q9BZC7.
Bgee	Q9BZC7.
CleanEx	HS_ABCA2.
Genevestigator	Q9BZC7.
GermOnline	ENSG00000107331. 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	ABCA2. human.
GenomeRNAi	20.
NextBio	55.
SOURCE	Search...

Entry information

Entry name

ABCA2_HUMAN

Accession

Primary (citable) accession number: Q9BZC7
Secondary accession number(s): A6NED5 , Q5SPY5, Q5W9G5, Q76MW7, Q9HC28

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 11, 2001
Last sequence update:	September 23, 2008
Last modified:	April 3, 2013
This is version 104 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.