Reviewed, UniProtKB/Swiss-Prot Q9BZC7 (ABCA2_HUMAN)

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) [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	2435 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
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	Membrane; Multi-pass membrane protein Potential.
Sequence similarities	Belongs to the ABC transporter superfamily. ABCA family. Contains 2 ABC transporter domains.

Ontologies

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

Alternative products

This entry describes 2 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.

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	Potential
	Transmembrane	54 – 74	21	Potential
	Transmembrane	699 – 719	21	Potential
	Transmembrane	750 – 770	21	Potential
	Transmembrane	782 – 802	21	Potential
	Transmembrane	813 – 833	21	Potential
	Transmembrane	857 – 877	21	Potential
	Transmembrane	893 – 913	21	Potential
	Transmembrane	1456 – 1476	21	Potential
	Transmembrane	1792 – 1812	21	Potential
	Transmembrane	1841 – 1861	21	Potential
	Transmembrane	1872 – 1892	21	Potential
	Transmembrane	1905 – 1925	21	Potential
	Transmembrane	1991 – 2011	21	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.5
	Modified residue	1331	1	Phosphoserine Ref.5
	Modified residue	2412	1	Phosphothreonine Ref.6
	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	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: dbSNP rs908828. Ref.1		VAR_044526
	Natural variant	674	1	F → V: dbSNP rs2090625.		VAR_044527
Experimental info
	Sequence conflict	54	1	A → VP in AAK14335. Ref.1
	Sequence conflict	2079	1	P → L in AAK14335. Ref.1

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. 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

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: 11178988] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT PRO-583.
[2]	"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].
[3]	"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: 10470851] [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.
[4]	"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: 12168954] [Abstract] Cited for: SEQUENCE REVISION.
[5]	"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: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1327 AND SER-1331, MASS SPECTROMETRY. Tissue: Epithelium.
[6]	"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: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-2412, MASS SPECTROMETRY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	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. AL807752 Genomic DNA. Translation: CAI12768.1. AB028985 mRNA. Translation: BAA83014.2. AB177854 mRNA. Translation: BAD66832.1.
IPI	IPI00937612. IPI00945847.
UniGene	Hs.421202 Hs.457
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BZC7. 1 interaction.
STRING	Q9BZC7.
Protein family/group databases
TCDB	3.A.1.211.3. ATP-binding cassette (ABC) superfamily.
PTM databases
PhosphoSite	Q9BZC7.
Proteomic databases
PRIDE	Q9BZC7.
Genome annotation databases
Ensembl	ENST00000371605; ENSP00000360666; ENSG00000107331; Homo sapiens. [Genome view]
Organism-specific databases
GeneCards	GC09M139021.
HGNC	HGNC:32. ABCA2.
MIM	600047. gene.
PharmGKB	PA24377.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q9BZC7.
Gene expression databases
ArrayExpress	Q9BZC7.
Bgee	Q9BZC7.
CleanEx	HS_ABCA2.
Genevestigator	Q9BZC7.
GermOnline	ENSG00000107331. 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
SOURCE	Search...

Entry information

Entry name

ABCA2_HUMAN

Accession

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

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 11, 2001
Last sequence update:	September 23, 2008
Last modified:	November 24, 2009
This is version 73 of the entry and version 3 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.