UniProtKB - Q9BZC7 (ABCA2_HUMAN)
Protein
ATP-binding cassette sub-family A member 2
Gene
ABCA2
Organism
Homo sapiens (Human)
Status
Functioni
Probable transporter, its natural substrate has not been found yet. May have a role in macrophage lipid metabolism and neural development.
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 1024 – 1031 | ATP 1PROSITE-ProRule annotation | 8 | |
Nucleotide bindingi | 2087 – 2094 | ATP 2PROSITE-ProRule annotation | 8 |
GO - Molecular functioni
- ATPase activity Source: UniProtKB
- ATPase-coupled transmembrane transporter activity Source: GO_Central
- ATP binding Source: UniProtKB
- ceramide floppase activity Source: ARUK-UCL
- endopeptidase regulator activity Source: ARUK-UCL
- lipid transporter activity Source: GO_Central
- nucleotide binding Source: UniProtKB
GO - Biological processi
- cellular sphingolipid homeostasis Source: ARUK-UCL
- central nervous system myelin formation Source: ARUK-UCL
- ceramide translocation Source: ARUK-UCL
- cholesterol homeostasis Source: UniProtKB
- lipid metabolic process Source: UniProtKB
- lipid transport Source: GO_Central
- locomotory behavior Source: ARUK-UCL
- negative regulation of cholesterol efflux Source: ARUK-UCL
- negative regulation of cholesterol esterification Source: ARUK-UCL
- negative regulation of intracellular cholesterol transport Source: ARUK-UCL
- negative regulation of low-density lipoprotein receptor activity Source: ARUK-UCL
- negative regulation of phospholipid biosynthetic process Source: ARUK-UCL
- negative regulation of receptor-mediated endocytosis involved in cholesterol transport Source: ARUK-UCL
- negative regulation of sphingolipid biosynthetic process Source: ARUK-UCL
- positive regulation of amyloid-beta formation Source: ARUK-UCL
- positive regulation of amyloid precursor protein biosynthetic process Source: ARUK-UCL
- positive regulation of amyloid precursor protein catabolic process Source: ARUK-UCL
- positive regulation of low-density lipoprotein particle receptor catabolic process Source: ARUK-UCL
- regulation of cholesterol esterification Source: ARUK-UCL
- regulation of intracellular cholesterol transport Source: UniProtKB
- regulation of post-translational protein modification Source: ARUK-UCL
- regulation of protein glycosylation Source: ARUK-UCL
- regulation of protein localization to cell periphery Source: ARUK-UCL
- regulation of protein localization to cell surface Source: ARUK-UCL
- regulation of transcription by RNA polymerase II Source: UniProtKB
- response to cholesterol Source: UniProtKB
- response to drug Source: UniProtKB
- response to steroid hormone Source: UniProtKB
- sphingosine biosynthetic process Source: ARUK-UCL
- transmembrane transport Source: UniProtKB
- transport across blood-brain barrier Source: ARUK-UCL
Keywordsi
Biological process | Transport |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q9BZC7 |
Reactomei | R-HSA-1369062, ABC transporters in lipid homeostasis |
Protein family/group databases
TCDBi | 3.A.1.211.3, the atp-binding cassette (abc) superfamily |
Names & Taxonomyi
Protein namesi | Recommended name: ATP-binding cassette sub-family A member 2Alternative name(s): ATP-binding cassette transporter 2 Short name: ATP-binding cassette 2 |
Gene namesi | Name:ABCA2 Synonyms:ABC2, KIAA1062 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000107331.16 |
HGNCi | HGNC:32, ABCA2 |
MIMi | 600047, gene |
neXtProti | NX_Q9BZC7 |
Subcellular locationi
Lysosome
- Lysosome membrane 1 Publication; Multi-pass membrane protein 1 Publication
Endosome
- Endosome membrane 1 Publication; Multi-pass membrane protein 1 Publication
Note: Forms discrete, punctate intracellular vesicles.1 Publication
Cytoskeleton
- microtubule organizing center Source: UniProtKB
Endosome
- endosome Source: UniProtKB
- endosome membrane Source: UniProtKB-SubCell
Lysosome
- lysosomal membrane Source: UniProtKB
- lysosome Source: UniProtKB
Plasma Membrane
- ATP-binding cassette (ABC) transporter complex Source: UniProtKB
- plasma membrane Source: ARUK-UCL
Other locations
- cytoplasmic vesicle Source: UniProtKB
- integral component of membrane Source: UniProtKB
- intracellular membrane-bounded organelle Source: GO_Central
- membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 22 – 42 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 54 – 74 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 699 – 719 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 750 – 770 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 782 – 802 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 813 – 833 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 857 – 877 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 893 – 913 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 1456 – 1476 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 1792 – 1812 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 1841 – 1861 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 1872 – 1892 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 1905 – 1925 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 1991 – 2011 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Endosome, Lysosome, MembranePathology & Biotechi
Involvement in diseasei
Intellectual developmental disorder with poor growth and with or without seizures or ataxia (IDPOGSA)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by global developmental delay apparent from infancy, impaired intellectual development, hypotonia, and poor overall growth with microcephaly. Additional variable features include dysmorphic features, cataracts, ataxia and seizures.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_082138 | 343 – 2435 | Missing in IDPOGSA. 1 PublicationCorresponds to variant dbSNP:rs1588524458Add BLAST | 2093 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 271 | Q → R: Abolishes methylation by N6AMT1. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, Epilepsy, Mental retardationOrganism-specific databases
DisGeNETi | 20 |
MalaCardsi | ABCA2 |
MIMi | 618808, phenotype |
OpenTargetsi | ENSG00000107331 |
PharmGKBi | PA24377 |
Miscellaneous databases
Pharosi | Q9BZC7, Tbio |
Polymorphism and mutation databases
BioMutai | ABCA2 |
DMDMi | 206729923 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000093290 | 1 – 2435 | ATP-binding cassette sub-family A member 2Add BLAST | 2435 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 14 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 89 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 168 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 173 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 271 | N5-methylglutamine1 Publication | 1 | |
Glycosylationi | 305 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 368 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 379 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 420 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 432 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 476 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 484 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 494 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 530 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 544 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 590 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 600 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 628 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 1238 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1327 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1331 | PhosphoserineCombined sources | 1 | |
Glycosylationi | 1408 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1496 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1549 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1557 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1612 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1677 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1775 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 2054 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 2412 | PhosphothreonineCombined sources | 1 |
Post-translational modificationi
Methylated at Gln-271 by N6AMT1.1 Publication
Keywords - PTMi
Glycoprotein, Methylation, PhosphoproteinProteomic databases
EPDi | Q9BZC7 |
jPOSTi | Q9BZC7 |
MassIVEi | Q9BZC7 |
PaxDbi | Q9BZC7 |
PeptideAtlasi | Q9BZC7 |
PRIDEi | Q9BZC7 |
ProteomicsDBi | 79809 [Q9BZC7-1] 79810 [Q9BZC7-2] 79811 [Q9BZC7-3] |
PTM databases
GlyConnecti | 1021, 2 N-Linked glycans (1 site) |
GlyGeni | Q9BZC7, 26 sites |
iPTMneti | Q9BZC7 |
PhosphoSitePlusi | Q9BZC7 |
Expressioni
Tissue specificityi
Highly expressed in the brain, whereas lower levels of expression is observed in kidney and liver.1 Publication
Gene expression databases
Bgeei | ENSG00000107331, Expressed in C1 segment of cervical spinal cord and 194 other tissues |
ExpressionAtlasi | Q9BZC7, baseline and differential |
Genevisiblei | Q9BZC7, HS |
Organism-specific databases
HPAi | ENSG00000107331, Tissue enriched (brain) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 106538, 24 interactors |
IntActi | Q9BZC7, 24 interactors |
MINTi | Q9BZC7 |
STRINGi | 9606.ENSP00000344155 |
Miscellaneous databases
RNActi | Q9BZC7, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 990 – 1221 | ABC transporter 1PROSITE-ProRule annotationAdd BLAST | 232 | |
Domaini | 2050 – 2285 | ABC transporter 2PROSITE-ProRule annotationAdd BLAST | 236 |
Sequence similaritiesi
Keywords - Domaini
Repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0059, Eukaryota |
GeneTreei | ENSGT00940000158560 |
HOGENOMi | CLU_000604_19_0_1 |
InParanoidi | Q9BZC7 |
OrthoDBi | 131191at2759 |
PhylomeDBi | Q9BZC7 |
TreeFami | TF105191 |
Family and domain databases
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR003439, ABC_transporter-like IPR017871, ABC_transporter_CS IPR026082, ABCA IPR027417, P-loop_NTPase |
PANTHERi | PTHR19229, PTHR19229, 1 hit |
Pfami | View protein in Pfam PF00005, ABC_tran, 2 hits |
SMARTi | View protein in SMART SM00382, AAA, 2 hits |
SUPFAMi | SSF52540, SSF52540, 2 hits |
PROSITEi | View protein in PROSITE PS00211, ABC_TRANSPORTER_1, 1 hit PS50893, ABC_TRANSPORTER_2, 2 hits |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9BZC7-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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 GFPDEESIVN 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
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0Y8C9 | H0Y8C9_HUMAN | ATP-binding cassette sub-family A m... | ABCA2 | 1,066 | Annotation score: | ||
A0A087WXK5 | A0A087WXK5_HUMAN | ATP-binding cassette sub-family A m... | ABCA2 | 2,466 | Annotation score: | ||
H0Y8D6 | H0Y8D6_HUMAN | ATP-binding cassette sub-family A m... | ABCA2 | 1,441 | Annotation score: | ||
J3QSS3 | J3QSS3_HUMAN | ATP-binding cassette sub-family A m... | ABCA2 | 2,436 | Annotation score: | ||
E9PGB2 | E9PGB2_HUMAN | ATP-binding cassette sub-family A m... | ABCA2 | 989 | Annotation score: | ||
A0A096LP90 | A0A096LP90_HUMAN | ATP-binding cassette sub-family A m... | ABCA2 | 121 | Annotation score: | ||
H0Y8E3 | H0Y8E3_HUMAN | ATP-binding cassette sub-family A m... | ABCA2 | 195 | Annotation score: | ||
H7C5M6 | H7C5M6_HUMAN | ATP-binding cassette sub-family A m... | ABCA2 | 44 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Sequence conflicti | 2079 | P → L in AAK14335 (PubMed:11178988).Curated | 1 | ||
Isoform 3 (identifier: Q9BZC7-3) | |||||
Sequence conflicti | 55 | S → P in AAK14334 (PubMed:11178988).Curated | 1 | ||
Sequence conflicti | 55 | S → P in AAK14335 (PubMed:11178988).Curated | 1 | ||
Sequence conflicti | 55 | S → P in AAG09372 (PubMed:11309290).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_082138 | 343 – 2435 | Missing in IDPOGSA. 1 PublicationCorresponds to variant dbSNP:rs1588524458Add BLAST | 2093 | |
Natural variantiVAR_044526 | 583 | P → H. Corresponds to variant dbSNP:rs908828Ensembl. | 1 | |
Natural variantiVAR_044527 | 674 | F → V. Corresponds to variant dbSNP:rs2090625Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_040937 | 53 – 54 | EA → EVS in isoform 3. 2 Publications | 2 | |
Alternative sequenceiVSP_035283 | 2059 – 2090 | YKSRK…LGVNG → GSGHVGWGLGGVGQGQGGGA PAVEVEPGWAGP in isoform 2. 1 PublicationAdd BLAST | 32 | |
Alternative sequenceiVSP_035284 | 2091 – 2435 | Missing in isoform 2. 1 PublicationAdd BLAST | 345 |
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 No translation available. AB028985 mRNA Translation: BAA83014.2 AB177854 mRNA Translation: BAD66832.1 |
CCDSi | CCDS43909.1 [Q9BZC7-3] |
PIRi | A59189 |
RefSeqi | NP_001597.2, NM_001606.4 [Q9BZC7-3] NP_997698.1, NM_212533.2 XP_006717059.1, XM_006716996.3 [Q9BZC7-1] |
Genome annotation databases
Ensembli | ENST00000341511; ENSP00000344155; ENSG00000107331 [Q9BZC7-3] ENST00000371605; ENSP00000360666; ENSG00000107331 [Q9BZC7-1] |
GeneIDi | 20 |
KEGGi | hsa:20 |
UCSCi | uc011mem.1, human [Q9BZC7-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
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 No translation available. AB028985 mRNA Translation: BAA83014.2 AB177854 mRNA Translation: BAD66832.1 |
CCDSi | CCDS43909.1 [Q9BZC7-3] |
PIRi | A59189 |
RefSeqi | NP_001597.2, NM_001606.4 [Q9BZC7-3] NP_997698.1, NM_212533.2 XP_006717059.1, XM_006716996.3 [Q9BZC7-1] |
3D structure databases
SMRi | Q9BZC7 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 106538, 24 interactors |
IntActi | Q9BZC7, 24 interactors |
MINTi | Q9BZC7 |
STRINGi | 9606.ENSP00000344155 |
Protein family/group databases
TCDBi | 3.A.1.211.3, the atp-binding cassette (abc) superfamily |
PTM databases
GlyConnecti | 1021, 2 N-Linked glycans (1 site) |
GlyGeni | Q9BZC7, 26 sites |
iPTMneti | Q9BZC7 |
PhosphoSitePlusi | Q9BZC7 |
Polymorphism and mutation databases
BioMutai | ABCA2 |
DMDMi | 206729923 |
Proteomic databases
EPDi | Q9BZC7 |
jPOSTi | Q9BZC7 |
MassIVEi | Q9BZC7 |
PaxDbi | Q9BZC7 |
PeptideAtlasi | Q9BZC7 |
PRIDEi | Q9BZC7 |
ProteomicsDBi | 79809 [Q9BZC7-1] 79810 [Q9BZC7-2] 79811 [Q9BZC7-3] |
Protocols and materials databases
Antibodypediai | 32309, 216 antibodies |
DNASUi | 20 |
Genome annotation databases
Ensembli | ENST00000341511; ENSP00000344155; ENSG00000107331 [Q9BZC7-3] ENST00000371605; ENSP00000360666; ENSG00000107331 [Q9BZC7-1] |
GeneIDi | 20 |
KEGGi | hsa:20 |
UCSCi | uc011mem.1, human [Q9BZC7-1] |
Organism-specific databases
CTDi | 20 |
DisGeNETi | 20 |
EuPathDBi | HostDB:ENSG00000107331.16 |
GeneCardsi | ABCA2 |
HGNCi | HGNC:32, ABCA2 |
HPAi | ENSG00000107331, Tissue enriched (brain) |
MalaCardsi | ABCA2 |
MIMi | 600047, gene 618808, phenotype |
neXtProti | NX_Q9BZC7 |
OpenTargetsi | ENSG00000107331 |
PharmGKBi | PA24377 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0059, Eukaryota |
GeneTreei | ENSGT00940000158560 |
HOGENOMi | CLU_000604_19_0_1 |
InParanoidi | Q9BZC7 |
OrthoDBi | 131191at2759 |
PhylomeDBi | Q9BZC7 |
TreeFami | TF105191 |
Enzyme and pathway databases
PathwayCommonsi | Q9BZC7 |
Reactomei | R-HSA-1369062, ABC transporters in lipid homeostasis |
Miscellaneous databases
BioGRID-ORCSi | 20, 7 hits in 842 CRISPR screens |
ChiTaRSi | ABCA2, human |
GeneWikii | ABCA2 |
GenomeRNAii | 20 |
Pharosi | Q9BZC7, Tbio |
PROi | PR:Q9BZC7 |
RNActi | Q9BZC7, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000107331, Expressed in C1 segment of cervical spinal cord and 194 other tissues |
ExpressionAtlasi | Q9BZC7, baseline and differential |
Genevisiblei | Q9BZC7, HS |
Family and domain databases
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR003439, ABC_transporter-like IPR017871, ABC_transporter_CS IPR026082, ABCA IPR027417, P-loop_NTPase |
PANTHERi | PTHR19229, PTHR19229, 1 hit |
Pfami | View protein in Pfam PF00005, ABC_tran, 2 hits |
SMARTi | View protein in SMART SM00382, AAA, 2 hits |
SUPFAMi | SSF52540, SSF52540, 2 hits |
PROSITEi | View protein in PROSITE PS00211, ABC_TRANSPORTER_1, 1 hit PS50893, ABC_TRANSPORTER_2, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ABCA2_HUMAN | |
Accessioni | Q9BZC7Primary (citable) accession number: Q9BZC7 Secondary accession number(s): A6NED5 Q9HC28 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 11, 2001 |
Last sequence update: | September 12, 2018 | |
Last modified: | December 2, 2020 | |
This is version 168 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations