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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, ABC2, KIAA1062
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 1 Reviewed prediction
Nucleotide bindingi2087 – 20948ATP 2 Reviewed prediction

GO - Molecular functioni

  1. ATP binding Source: UniProtKB
  2. ATPase activity Source: UniProtKB
  3. ATPase activity, coupled to transmembrane movement of substances Source: UniProtKB
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei22 – 4221Helical; Reviewed prediction
Add
BLAST
Transmembranei54 – 7421Helical; Reviewed prediction
Add
BLAST
Transmembranei699 – 71921Helical; Reviewed prediction
Add
BLAST
Transmembranei750 – 77021Helical; Reviewed prediction
Add
BLAST
Transmembranei782 – 80221Helical; Reviewed prediction
Add
BLAST
Transmembranei813 – 83321Helical; Reviewed prediction
Add
BLAST
Transmembranei857 – 87721Helical; Reviewed prediction
Add
BLAST
Transmembranei893 – 91321Helical; Reviewed prediction
Add
BLAST
Transmembranei1456 – 147621Helical; Reviewed prediction
Add
BLAST
Transmembranei1792 – 181221Helical; Reviewed prediction
Add
BLAST
Transmembranei1841 – 186121Helical; Reviewed prediction
Add
BLAST
Transmembranei1872 – 189221Helical; Reviewed prediction
Add
BLAST
Transmembranei1905 – 192521Helical; Reviewed prediction
Add
BLAST
Transmembranei1991 – 201121Helical; Reviewed prediction
Add
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. endosome membrane Source: UniProtKB-SubCell
  5. integral component of membrane Source: UniProtKB
  6. lysosomal membrane Source: UniProtKB-SubCell
  7. lysosome 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 2
PRO_0000093290Add
BLAST

Amino acid modifications

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

ArrayExpressiQ9BZC7.
BgeeiQ9BZC7.
CleanExiHS_ABCA2.
GenevestigatoriQ9BZC7.

Organism-specific databases

HPAiHPA042886.

Interactioni

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliQ9BZC7.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini990 – 1221232ABC transporter 1
Add
BLAST
Domaini2050 – 2285236ABC transporter 2
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1131.
HOGENOMiHOG000231547.
HOVERGENiHBG050436.
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

MGFLHQLQLL LWKNVTLKRR SPWVLAFEIF IPLVLFFILL GLRQKKPTIS     50
VKEAFYTAAP LTSAGILPVM QSLCPDGQRD EFGFLQYANS TVTQLLERLD 100
RVVEEGNLFD PARPSLGSEL EALRQHLEAL SAGPGTSGSH LDRSTVSSFS 150
LDSVARNPQE LWRFLTQNLS LPNSTAQALL AARVDPPEVY HLLFGPSSAL 200
DSQSGLHKGQ EPWSRLGGNP LFRMEELLLA PALLEQLTCT PGSGELGRIL 250
TVPESQKGAL QGYRDAVCSG QAAARARRFS GLSAELRNQL DVAKVSQQLG 300
LDAPNGSDSS PQAPPPRRLQ ALLGDLLDAQ KVLQDVDVLS ALALLLPQGA 350
CTGRTPGPPA SGAGGAANGT GAGAVMGPNA TAEEGAPSAA ALATPDTLQG 400
QCSAFVQLWA GLQPILCGNN RTIEPEALRR GNMSSLGFTS KEQRNLGLLV 450
HLMTSNPKIL YAPAGSEVDR VILKANETFA FVGNVTHYAQ VWLNISAEIR 500
SFLEQGRLQQ HLRWLQQYVA ELRLHPEALN LSLDELPPAL RQDNFSLPSG 550
MALLQQLDTI DNAACGWIQF MSKVSVDIFK GFHDEESIVN YTLNQAYQDN 600
VTVFASVIFQ TRKDGSLPPH VHYKIRQNSS FTEKTNEIRR AYWRPGPNTG 650
GRFYFLYGFV WIQDMMERAI IDTFVGHDVV EPGSYVQMFP YPCYTRDDFL 700
FVIEHMMPLC MVISWVYSVA MTIQHIVAEK EHRLKEVMKT MGLNNAVHWV 750
AWFITGFVQL SISVTALTAI LKYGQVLMHS HVVIIWLFLA VYAVATIMFC 800
FLVSVLYSKA KLASACGGII YFLSYVPYMY VAIREEVAHD KITAFEKCIA 850
SLMSTTAFGL GSKYFALYEV AGVGIQWHTF SQSPVEGDDF NLLLAVTMLM 900
VDAVVYGILT WYIEAVHPGM YGLPRPWYFP LQKSYWLGSG RTEAWEWSWP 950
WARTPRLSVM EEDQACAMES RRFEETRGME EEPTHLPLVV CVDKLTKVYK 1000
DDKKLALNKL SLNLYENQVV SFLGHNGAGK TTTMSILTGL FPPTSGSATI 1050
YGHDIRTEMD EIRKNLGMCP QHNVLFDRLT VEEHLWFYSR LKSMAQEEIR 1100
REMDKMIEDL ELSNKRHSLV QTLSGGMKRK LSVAIAFVGG SRAIILDEPT 1150
AGVDPYARRA IWDLILKYKP GRTILLSTHH MDEADLLGDR IAIISHGKLK 1200
CCGSPLFLKG TYGDGYRLTL VKRPAEPGGP QEPGLASSPP GRAPLSSCSE 1250
LQVSQFIRKH VASCLLVSDT STELSYILPS EAAKKGAFER LFQHLERSLD 1300
ALHLSSFGLM DTTLEEVFLK VSEEDQSLEN SEADVKESRK DVLPGAEGPA 1350
SGEGHAGNLA RCSELTQSQA SLQSASSVGS ARGDEGAGYT DVYGDYRPLF 1400
DNPQDPDNVS LQEVEAEALS RVGQGSRKLD GGWLKVRQFH GLLVKRFHCA 1450
RRNSKALFSQ ILLPAFFVCV AMTVALSVPE IGDLPPLVLS PSQYHNYTQP 1500
RGNFIPYANE ERREYRLRLS PDASPQQLVS TFRLPSGVGA TCVLKSPANG 1550
SLGPTLNLSS GESRLLAARF FDSMCLESFT QGLPLSNFVP PPPSPAPSDS 1600
PASPDEDLQA WNVSLPPTAG PEMWTSAPSL PRLVREPVRC TCSAQGTGFS 1650
CPSSVGGHPP QMRVVTGDIL TDITGHNVSE YLLFTSDRFR LHRYGAITFG 1700
NVLKSIPASF GTRAPPMVRK IAVRRAAQVF YNNKGYHSMP TYLNSLNNAI 1750
LRANLPKSKG NPAAYGITVT NHPMNKTSAS LSLDYLLQGT DVVIAIFIIV 1800
AMSFVPASFV VFLVAEKSTK AKHLQFVSGC NPIIYWLANY VWDMLNYLVP 1850
ATCCVIILFV FDLPAYTSPT NFPAVLSLFL LYGWSITPIM YPASFWFEVP 1900
SSAYVFLIVI NLFIGITATV ATFLLQLFEH DKDLKVVNSY LKSCFLIFPN 1950
YNLGHGLMEM AYNEYINEYY AKIGQFDKMK SPFEWDIVTR GLVAMAVEGV 2000
VGFLLTIMCQ YNFLRRPQRM PVSTKPVEDD VDVASERQRV LRGDADNDMV 2050
KIENLTKVYK SRKIGRILAV DRLCLGVRPG ECFGLLGVNG AGKTSTFKML 2100
TGDESTTGGE AFVNGHSVLK ELLQVQQSLG YCPQCDALFD ELTAREHLQL 2150
YTRLRGISWK DEARVVKWAL EKLELTKYAD KPAGTYSGGN KRKLSTAIAL 2200
IGYPAFIFLD EPTTGMDPKA RRFLWNLILD LIKTGRSVVL TSHSMEECEA 2250
LCTRLAIMVN GRLRCLGSIQ HLKNRFGDGY MITVRTKSSQ SVKDVVRFFN 2300
RNFPEAMLKE RHHTKVQYQL KSEHISLAQV FSKMEQVSGV LGIEDYSVSQ 2350
TTLDNVFVNF AKKQSDNLEQ QETEPPSALQ SPLGCLLSLL RPRSAPTELR 2400
ALVADEPEDL DTEDEGLISF EEERAQLSFN TDTLC 2435
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

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.
VSP_040937
Alternative sequencei2059 – 209032YKSRK…LGVNG → GSGHVGWGLGGVGQGQGGGA PAVEVEPGWAGP in isoform 2.
VSP_035283Add
BLAST
Alternative sequencei2091 – 2435345Missing in isoform 2.
VSP_035284Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti2079 – 20791P → L in AAK14335. 1 Publication
Isoform 3 (identifier: Q9BZC7-3)
Sequence conflicti55 – 551S → P in AAK14334. 1 Publication
Sequence conflicti55 – 551S → P in AAK14335. 1 Publication
Sequence conflicti55 – 551S → P in AAG09372. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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. [Q9BZC7-3]
ENST00000371605; ENSP00000360666; ENSG00000107331. [Q9BZC7-1]
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:
EMBL
GenBank
DDBJ
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...

Protein-protein interaction databases

BioGridi 106538. 3 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 . [Q9BZC7-3 ]
ENST00000371605 ; ENSP00000360666 ; ENSG00000107331 . [Q9BZC7-1 ]
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.
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

ArrayExpressi Q9BZC7.
Bgeei Q9BZC7.
CleanExi HS_ABCA2.
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: September 3, 2014
This is version 117 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

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