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Q9BZC7

- ABCA2_HUMAN

UniProt

Q9BZC7 - ABCA2_HUMAN

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Protein

ATP-binding cassette sub-family A member 2

Gene

ABCA2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Probable transporter, its natural substrate has not been found yet. May have a role in macrophage lipid metabolism and neural development.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi1024 – 10318ATP 1PROSITE-ProRule annotation
Nucleotide bindingi2087 – 20948ATP 2PROSITE-ProRule annotation

GO - Molecular functioni

  1. ATPase activity Source: UniProtKB
  2. ATPase activity, coupled to transmembrane movement of substances Source: UniProtKB
  3. ATP binding Source: UniProtKB
  4. nucleotide binding Source: UniProtKB

GO - Biological processi

  1. ATP catabolic process Source: GOC
  2. cholesterol homeostasis Source: UniProtKB
  3. lipid metabolic process Source: UniProtKB
  4. regulation of intracellular cholesterol transport Source: UniProtKB
  5. regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  6. response to drug Source: UniProtKB
  7. response to steroid hormone Source: UniProtKB
  8. transmembrane transport Source: GOC
  9. transport Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Transport

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_111158. ABCA transporters in lipid homeostasis.

Protein family/group databases

TCDBi3.A.1.211.3. the atp-binding cassette (abc) superfamily.

Names & Taxonomyi

Protein namesi
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 namesi
Name:ABCA2
Synonyms:ABC2, KIAA1062
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:32. ABCA2.

Subcellular locationi

Endosome membrane 1 Publication; Multi-pass membrane protein 1 Publication. Lysosome membrane 1 Publication; Multi-pass membrane protein 1 Publication
Note: Forms discrete, punctate intracellular vesicles.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei22 – 4221HelicalSequence AnalysisAdd
BLAST
Transmembranei54 – 7421HelicalSequence AnalysisAdd
BLAST
Transmembranei699 – 71921HelicalSequence AnalysisAdd
BLAST
Transmembranei750 – 77021HelicalSequence AnalysisAdd
BLAST
Transmembranei782 – 80221HelicalSequence AnalysisAdd
BLAST
Transmembranei813 – 83321HelicalSequence AnalysisAdd
BLAST
Transmembranei857 – 87721HelicalSequence AnalysisAdd
BLAST
Transmembranei893 – 91321HelicalSequence AnalysisAdd
BLAST
Transmembranei1456 – 147621HelicalSequence AnalysisAdd
BLAST
Transmembranei1792 – 181221HelicalSequence AnalysisAdd
BLAST
Transmembranei1841 – 186121HelicalSequence AnalysisAdd
BLAST
Transmembranei1872 – 189221HelicalSequence AnalysisAdd
BLAST
Transmembranei1905 – 192521HelicalSequence AnalysisAdd
BLAST
Transmembranei1991 – 201121HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. ATP-binding cassette (ABC) transporter complex Source: UniProtKB
  2. cytoplasmic membrane-bounded vesicle Source: UniProtKB
  3. endosome Source: UniProtKB
  4. integral component of membrane Source: UniProtKB
  5. lysosomal membrane Source: UniProtKB
  6. lysosome Source: UniProtKB
  7. membrane Source: UniProtKB
  8. microtubule organizing center Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endosome, Lysosome, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA24377.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 24352435ATP-binding cassette sub-family A member 2PRO_0000093290Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi14 – 141N-linked (GlcNAc...)Sequence Analysis
Glycosylationi89 – 891N-linked (GlcNAc...)Sequence Analysis
Glycosylationi168 – 1681N-linked (GlcNAc...)Sequence Analysis
Glycosylationi173 – 1731N-linked (GlcNAc...)Sequence Analysis
Glycosylationi305 – 3051N-linked (GlcNAc...)Sequence Analysis
Glycosylationi368 – 3681N-linked (GlcNAc...)Sequence Analysis
Glycosylationi379 – 3791N-linked (GlcNAc...)Sequence Analysis
Glycosylationi420 – 4201N-linked (GlcNAc...)Sequence Analysis
Glycosylationi432 – 4321N-linked (GlcNAc...)Sequence Analysis
Glycosylationi476 – 4761N-linked (GlcNAc...)Sequence Analysis
Glycosylationi484 – 4841N-linked (GlcNAc...)Sequence Analysis
Glycosylationi494 – 4941N-linked (GlcNAc...)Sequence Analysis
Glycosylationi530 – 5301N-linked (GlcNAc...)Sequence Analysis
Glycosylationi544 – 5441N-linked (GlcNAc...)Sequence Analysis
Glycosylationi590 – 5901N-linked (GlcNAc...)Sequence Analysis
Glycosylationi600 – 6001N-linked (GlcNAc...)Sequence Analysis
Glycosylationi628 – 6281N-linked (GlcNAc...)Sequence Analysis
Modified residuei1327 – 13271Phosphoserine1 Publication
Modified residuei1331 – 13311Phosphoserine1 Publication
Glycosylationi1408 – 14081N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1496 – 14961N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1549 – 15491N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1557 – 15571N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1612 – 16121N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1677 – 16771N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1775 – 17751N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2054 – 20541N-linked (GlcNAc...)Sequence Analysis
Modified residuei2412 – 24121Phosphothreonine1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ9BZC7.
PaxDbiQ9BZC7.
PRIDEiQ9BZC7.

PTM databases

PhosphoSiteiQ9BZC7.

Expressioni

Tissue specificityi

Highly expressed in the brain, whereas lower levels of expression is observed in kidney and liver.1 Publication

Gene expression databases

BgeeiQ9BZC7.
CleanExiHS_ABCA2.
ExpressionAtlasiQ9BZC7. baseline and differential.
GenevestigatoriQ9BZC7.

Organism-specific databases

HPAiHPA042886.

Interactioni

Protein-protein interaction databases

BioGridi106538. 5 interactions.
IntActiQ9BZC7. 3 interactions.
STRINGi9606.ENSP00000344155.

Structurei

3D structure databases

ProteinModelPortaliQ9BZC7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini990 – 1221232ABC transporter 1PROSITE-ProRule annotationAdd
BLAST
Domaini2050 – 2285236ABC transporter 2PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 2 ABC transporter domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1131.
HOGENOMiHOG000231547.
HOVERGENiHBG050436.
InParanoidiQ9BZC7.
KOiK05642.
OMAiGYPAFIF.
OrthoDBiEOG78D7J6.
PhylomeDBiQ9BZC7.
TreeFamiTF105191.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR19229. PTHR19229. 1 hit.
PfamiPF00005. ABC_tran. 2 hits.
[Graphical view]
SMARTiSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
PROSITEiPS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9BZC7-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MGFLHQLQLL LWKNVTLKRR SPWVLAFEIF IPLVLFFILL GLRQKKPTIS
60 70 80 90 100
VKEAFYTAAP LTSAGILPVM QSLCPDGQRD EFGFLQYANS TVTQLLERLD
110 120 130 140 150
RVVEEGNLFD PARPSLGSEL EALRQHLEAL SAGPGTSGSH LDRSTVSSFS
160 170 180 190 200
LDSVARNPQE LWRFLTQNLS LPNSTAQALL AARVDPPEVY HLLFGPSSAL
210 220 230 240 250
DSQSGLHKGQ EPWSRLGGNP LFRMEELLLA PALLEQLTCT PGSGELGRIL
260 270 280 290 300
TVPESQKGAL QGYRDAVCSG QAAARARRFS GLSAELRNQL DVAKVSQQLG
310 320 330 340 350
LDAPNGSDSS PQAPPPRRLQ ALLGDLLDAQ KVLQDVDVLS ALALLLPQGA
360 370 380 390 400
CTGRTPGPPA SGAGGAANGT GAGAVMGPNA TAEEGAPSAA ALATPDTLQG
410 420 430 440 450
QCSAFVQLWA GLQPILCGNN RTIEPEALRR GNMSSLGFTS KEQRNLGLLV
460 470 480 490 500
HLMTSNPKIL YAPAGSEVDR VILKANETFA FVGNVTHYAQ VWLNISAEIR
510 520 530 540 550
SFLEQGRLQQ HLRWLQQYVA ELRLHPEALN LSLDELPPAL RQDNFSLPSG
560 570 580 590 600
MALLQQLDTI DNAACGWIQF MSKVSVDIFK GFHDEESIVN YTLNQAYQDN
610 620 630 640 650
VTVFASVIFQ TRKDGSLPPH VHYKIRQNSS FTEKTNEIRR AYWRPGPNTG
660 670 680 690 700
GRFYFLYGFV WIQDMMERAI IDTFVGHDVV EPGSYVQMFP YPCYTRDDFL
710 720 730 740 750
FVIEHMMPLC MVISWVYSVA MTIQHIVAEK EHRLKEVMKT MGLNNAVHWV
760 770 780 790 800
AWFITGFVQL SISVTALTAI LKYGQVLMHS HVVIIWLFLA VYAVATIMFC
810 820 830 840 850
FLVSVLYSKA KLASACGGII YFLSYVPYMY VAIREEVAHD KITAFEKCIA
860 870 880 890 900
SLMSTTAFGL GSKYFALYEV AGVGIQWHTF SQSPVEGDDF NLLLAVTMLM
910 920 930 940 950
VDAVVYGILT WYIEAVHPGM YGLPRPWYFP LQKSYWLGSG RTEAWEWSWP
960 970 980 990 1000
WARTPRLSVM EEDQACAMES RRFEETRGME EEPTHLPLVV CVDKLTKVYK
1010 1020 1030 1040 1050
DDKKLALNKL SLNLYENQVV SFLGHNGAGK TTTMSILTGL FPPTSGSATI
1060 1070 1080 1090 1100
YGHDIRTEMD EIRKNLGMCP QHNVLFDRLT VEEHLWFYSR LKSMAQEEIR
1110 1120 1130 1140 1150
REMDKMIEDL ELSNKRHSLV QTLSGGMKRK LSVAIAFVGG SRAIILDEPT
1160 1170 1180 1190 1200
AGVDPYARRA IWDLILKYKP GRTILLSTHH MDEADLLGDR IAIISHGKLK
1210 1220 1230 1240 1250
CCGSPLFLKG TYGDGYRLTL VKRPAEPGGP QEPGLASSPP GRAPLSSCSE
1260 1270 1280 1290 1300
LQVSQFIRKH VASCLLVSDT STELSYILPS EAAKKGAFER LFQHLERSLD
1310 1320 1330 1340 1350
ALHLSSFGLM DTTLEEVFLK VSEEDQSLEN SEADVKESRK DVLPGAEGPA
1360 1370 1380 1390 1400
SGEGHAGNLA RCSELTQSQA SLQSASSVGS ARGDEGAGYT DVYGDYRPLF
1410 1420 1430 1440 1450
DNPQDPDNVS LQEVEAEALS RVGQGSRKLD GGWLKVRQFH GLLVKRFHCA
1460 1470 1480 1490 1500
RRNSKALFSQ ILLPAFFVCV AMTVALSVPE IGDLPPLVLS PSQYHNYTQP
1510 1520 1530 1540 1550
RGNFIPYANE ERREYRLRLS PDASPQQLVS TFRLPSGVGA TCVLKSPANG
1560 1570 1580 1590 1600
SLGPTLNLSS GESRLLAARF FDSMCLESFT QGLPLSNFVP PPPSPAPSDS
1610 1620 1630 1640 1650
PASPDEDLQA WNVSLPPTAG PEMWTSAPSL PRLVREPVRC TCSAQGTGFS
1660 1670 1680 1690 1700
CPSSVGGHPP QMRVVTGDIL TDITGHNVSE YLLFTSDRFR LHRYGAITFG
1710 1720 1730 1740 1750
NVLKSIPASF GTRAPPMVRK IAVRRAAQVF YNNKGYHSMP TYLNSLNNAI
1760 1770 1780 1790 1800
LRANLPKSKG NPAAYGITVT NHPMNKTSAS LSLDYLLQGT DVVIAIFIIV
1810 1820 1830 1840 1850
AMSFVPASFV VFLVAEKSTK AKHLQFVSGC NPIIYWLANY VWDMLNYLVP
1860 1870 1880 1890 1900
ATCCVIILFV FDLPAYTSPT NFPAVLSLFL LYGWSITPIM YPASFWFEVP
1910 1920 1930 1940 1950
SSAYVFLIVI NLFIGITATV ATFLLQLFEH DKDLKVVNSY LKSCFLIFPN
1960 1970 1980 1990 2000
YNLGHGLMEM AYNEYINEYY AKIGQFDKMK SPFEWDIVTR GLVAMAVEGV
2010 2020 2030 2040 2050
VGFLLTIMCQ YNFLRRPQRM PVSTKPVEDD VDVASERQRV LRGDADNDMV
2060 2070 2080 2090 2100
KIENLTKVYK SRKIGRILAV DRLCLGVRPG ECFGLLGVNG AGKTSTFKML
2110 2120 2130 2140 2150
TGDESTTGGE AFVNGHSVLK ELLQVQQSLG YCPQCDALFD ELTAREHLQL
2160 2170 2180 2190 2200
YTRLRGISWK DEARVVKWAL EKLELTKYAD KPAGTYSGGN KRKLSTAIAL
2210 2220 2230 2240 2250
IGYPAFIFLD EPTTGMDPKA RRFLWNLILD LIKTGRSVVL TSHSMEECEA
2260 2270 2280 2290 2300
LCTRLAIMVN GRLRCLGSIQ HLKNRFGDGY MITVRTKSSQ SVKDVVRFFN
2310 2320 2330 2340 2350
RNFPEAMLKE RHHTKVQYQL KSEHISLAQV FSKMEQVSGV LGIEDYSVSQ
2360 2370 2380 2390 2400
TTLDNVFVNF AKKQSDNLEQ QETEPPSALQ SPLGCLLSLL RPRSAPTELR
2410 2420 2430
ALVADEPEDL DTEDEGLISF EEERAQLSFN TDTLC
Length:2,435
Mass (Da):269,873
Last modified:September 23, 2008 - v3
Checksum:i0C4ABE9087BEC5C4
GO
Isoform 2 (identifier: Q9BZC7-2) [UniParc]FASTAAdd to Basket

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

Note: No experimental confirmation available.

Show »
Length:2,090
Mass (Da):230,564
Checksum:i0E8343980AF61548
GO
Isoform 3 (identifier: Q9BZC7-3) [UniParc]FASTAAdd to Basket

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

Show »
Length:2,436
Mass (Da):269,988
Checksum:iAF887122E85CA013
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti2079 – 20791P → L in AAK14335. (PubMed:11178988)Curated
Isoform 3 (identifier: Q9BZC7-3)
Sequence conflicti55 – 551S → P in AAK14334. (PubMed:11178988)Curated
Sequence conflicti55 – 551S → P in AAK14335. (PubMed:11178988)Curated
Sequence conflicti55 – 551S → P in AAG09372. (PubMed:11309290)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti583 – 5831H → P.2 Publications
Corresponds to variant rs908828 [ dbSNP | Ensembl ].
VAR_044526
Natural varianti674 – 6741F → V.
Corresponds to variant rs2090625 [ dbSNP | Ensembl ].
VAR_044527

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei53 – 542EA → EVS in isoform 3. 2 PublicationsVSP_040937
Alternative sequencei2059 – 209032YKSRK…LGVNG → GSGHVGWGLGGVGQGQGGGA PAVEVEPGWAGP in isoform 2. 1 PublicationVSP_035283Add
BLAST
Alternative sequencei2091 – 2435345Missing in isoform 2. 1 PublicationVSP_035284Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS43909.1. [Q9BZC7-3]
PIRiA59189.
RefSeqiNP_001597.2. NM_001606.4.
NP_997698.1. NM_212533.2.
UniGeneiHs.421202.

Genome annotation databases

EnsembliENST00000341511; ENSP00000344155; ENSG00000107331.
ENST00000371605; ENSP00000360666; ENSG00000107331.
GeneIDi20.
KEGGihsa:20.
UCSCiuc004ckl.1. human. [Q9BZC7-1]
uc004ckm.1. human. [Q9BZC7-3]

Polymorphism databases

DMDMi206729923.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

ABCMdb

Database for mutations in ABC proteins

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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 .
CCDSi CCDS43909.1. [Q9BZC7-3 ]
PIRi A59189.
RefSeqi NP_001597.2. NM_001606.4.
NP_997698.1. NM_212533.2.
UniGenei Hs.421202.

3D structure databases

ProteinModelPortali Q9BZC7.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 106538. 5 interactions.
IntActi Q9BZC7. 3 interactions.
STRINGi 9606.ENSP00000344155.

Protein family/group databases

TCDBi 3.A.1.211.3. the atp-binding cassette (abc) superfamily.

PTM databases

PhosphoSitei Q9BZC7.

Polymorphism databases

DMDMi 206729923.

Proteomic databases

MaxQBi Q9BZC7.
PaxDbi Q9BZC7.
PRIDEi Q9BZC7.

Protocols and materials databases

DNASUi 20.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000341511 ; ENSP00000344155 ; ENSG00000107331 .
ENST00000371605 ; ENSP00000360666 ; ENSG00000107331 .
GeneIDi 20.
KEGGi hsa:20.
UCSCi uc004ckl.1. human. [Q9BZC7-1 ]
uc004ckm.1. human. [Q9BZC7-3 ]

Organism-specific databases

CTDi 20.
GeneCardsi GC09M139901.
HGNCi HGNC:32. ABCA2.
HPAi HPA042886.
MIMi 600047. gene.
neXtProti NX_Q9BZC7.
PharmGKBi PA24377.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1131.
HOGENOMi HOG000231547.
HOVERGENi HBG050436.
InParanoidi Q9BZC7.
KOi K05642.
OMAi GYPAFIF.
OrthoDBi EOG78D7J6.
PhylomeDBi Q9BZC7.
TreeFami TF105191.

Enzyme and pathway databases

Reactomei REACT_111158. ABCA transporters in lipid homeostasis.

Miscellaneous databases

ChiTaRSi ABCA2. human.
GeneWikii ABCA2.
GenomeRNAii 20.
NextBioi 55.
PROi Q9BZC7.
SOURCEi Search...

Gene expression databases

Bgeei Q9BZC7.
CleanExi HS_ABCA2.
ExpressionAtlasi Q9BZC7. baseline and differential.
Genevestigatori Q9BZC7.

Family and domain databases

Gene3Di 3.40.50.300. 2 hits.
InterProi IPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR027417. P-loop_NTPase.
[Graphical view ]
PANTHERi PTHR19229. PTHR19229. 1 hit.
Pfami PF00005. ABC_tran. 2 hits.
[Graphical view ]
SMARTi SM00382. AAA. 2 hits.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 2 hits.
PROSITEi PS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-2412, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.

Entry informationi

Entry nameiABCA2_HUMAN
AccessioniPrimary (citable) accession number: Q9BZC7
Secondary accession number(s): A6NED5
, Q5SPY5, Q5W9G5, Q76MW7, Q9HC28
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 11, 2001
Last sequence update: September 23, 2008
Last modified: October 29, 2014
This is version 119 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3