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UniProtKB - Q8IUA7 (ABCA9_HUMAN)
Protein
ATP-binding cassette sub-family A member 9
Gene
ABCA9
Organism
Homo sapiens (Human)
Status
Functioni
Transporter that may play a role in monocyte differentiation and lipid transport and homeostasis.
1 PublicationRegions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 517 – 524 | ATP 1PROSITE-ProRule annotation | 8 | |
Nucleotide bindingi | 1326 – 1333 | ATP 2PROSITE-ProRule annotation | 8 |
GO - Molecular functioni
- ABC-type transporter activity Source: InterPro
- ATPase-coupled transmembrane transporter activity Source: GO_Central
- ATP binding Source: UniProtKB-KW
- lipid transporter activity Source: GO_Central
GO - Biological processi
- lipid transport Source: GO_Central
Keywordsi
Molecular function | Translocase |
Biological process | Transport |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q8IUA7 |
Reactomei | R-HSA-1369062, ABC transporters in lipid homeostasis |
SignaLinki | Q8IUA7 |
Protein family/group databases
TCDBi | 3.A.1.211.16, the atp-binding cassette (abc) superfamily |
Names & Taxonomyi
Protein namesi | |
Gene namesi | Name:ABCA9 |
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
HGNCi | HGNC:39, ABCA9 |
MIMi | 612507, gene |
neXtProti | NX_Q8IUA7 |
VEuPathDBi | HostDB:ENSG00000154258 |
Subcellular locationi
Other locations
- Membrane Curated; Multi-pass membrane protein Curated
Other locations
- integral component of membrane Source: UniProtKB-KW
- intracellular membrane-bounded organelle Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 31 – 51 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 221 – 243 | HelicalSequence analysisAdd BLAST | 23 | |
Transmembranei | 269 – 289 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 300 – 320 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 329 – 349 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 354 – 374 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 398 – 418 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 864 – 884 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 1026 – 1046 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 1065 – 1085 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 1108 – 1128 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 1136 – 1156 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 1163 – 1183 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 1200 – 1220 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 10350 |
OpenTargetsi | ENSG00000154258 |
PharmGKBi | PA24384 |
Miscellaneous databases
Pharosi | Q8IUA7, Tbio |
Genetic variation databases
BioMutai | ABCA9 |
DMDMi | 74762471 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000250680 | 1 – 1624 | ATP-binding cassette sub-family A member 9Add BLAST | 1624 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 120 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 195 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 949 | N-linked (GlcNAc...) asparagine1 Publication | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
jPOSTi | Q8IUA7 |
MassIVEi | Q8IUA7 |
PaxDbi | Q8IUA7 |
PeptideAtlasi | Q8IUA7 |
PRIDEi | Q8IUA7 |
ProteomicsDBi | 70529 [Q8IUA7-1] 70531 [Q8IUA7-3] 70532 [Q8IUA7-4] |
PTM databases
GlyGeni | Q8IUA7, 3 sites |
iPTMneti | Q8IUA7 |
PhosphoSitePlusi | Q8IUA7 |
Expressioni
Tissue specificityi
Widely expressed with higher expression in heart.1 Publication
Developmental stagei
Expressed in fetal tissues with higher expression in fetal heart and kidney.1 Publication
Inductioni
Up-regulated during monocyte differentiation into macrophages. Down-regulated by cholesterol loading of macrophages.1 Publication
Gene expression databases
Bgeei | ENSG00000154258, Expressed in sural nerve and 189 other tissues |
ExpressionAtlasi | Q8IUA7, baseline and differential |
Genevisiblei | Q8IUA7, HS |
Organism-specific databases
HPAi | ENSG00000154258, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 115631, 7 interactors |
IntActi | Q8IUA7, 3 interactors |
STRINGi | 9606.ENSP00000342216 |
Miscellaneous databases
RNActi | Q8IUA7, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 481 – 716 | ABC transporter 1PROSITE-ProRule annotationAdd BLAST | 236 | |
Domaini | 1288 – 1521 | ABC transporter 2PROSITE-ProRule annotationAdd BLAST | 234 |
Sequence similaritiesi
Keywords - Domaini
Repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0059, Eukaryota |
GeneTreei | ENSGT00940000162444 |
HOGENOMi | CLU_054320_0_0_1 |
InParanoidi | Q8IUA7 |
OMAi | YRFSIAC |
OrthoDBi | 131191at2759 |
PhylomeDBi | Q8IUA7 |
TreeFami | TF105192 |
Family and domain databases
Gene3Di | 3.40.50.300, 2 hits |
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR003439, ABC_transporter-like_ATP-bd IPR026082, ABCA IPR030370, ABCA9 IPR027417, P-loop_NTPase |
PANTHERi | PTHR19229, PTHR19229, 1 hit PTHR19229:SF120, PTHR19229:SF120, 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 PS50893, ABC_TRANSPORTER_2, 2 hits |
s (5+)i Sequence
Sequence statusi: Complete.
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 5 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q8IUA7-1) [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
MSKRRMSVGQ QTWALLCKNC LKKWRMKRQT LLEWLFSFLL VLFLYLFFSN
60 70 80 90 100
LHQVHDTPQM SSMDLGRVDS FNDTNYVIAF APESKTTQEI MNKVASAPFL
110 120 130 140 150
KGRTIMGWPD EKSMDELDLN YSIDAVRVIF TDTFSYHLKF SWGHRIPMMK
160 170 180 190 200
EHRDHSAHCQ AVNEKMKCEG SEFWEKGFVA FQAAINAAII EIATNHSVME
210 220 230 240 250
QLMSVTGVHM KILPFVAQGG VATDFFIFFC IISFSTFIYY VSVNVTQERQ
260 270 280 290 300
YITSLMTMMG LRESAFWLSW GLMYAGFILI MATLMALIVK SAQIVVLTGF
310 320 330 340 350
VMVFTLFLLY GLSLITLAFL MSVLIKKPFL TGLVVFLLIV FWGILGFPAL
360 370 380 390 400
YTRLPAFLEW TLCLLSPFAF TVGMAQLIHL DYDVNSNAHL DSSQNPYLII
410 420 430 440 450
ATLFMLVFDT LLYLVLTLYF DKILPAEYGH RCSPLFFLKS CFWFQHGRAN
460 470 480 490 500
HVVLENETDS DPTPNDCFEP VSPEFCGKEA IRIKNLKKEY AGKCERVEAL
510 520 530 540 550
KGVVFDIYEG QITALLGHSG AGKTTLLNIL SGLSVPTSGS VTVYNHTLSR
560 570 580 590 600
MADIENISKF TGFCPQSNVQ FGFLTVKENL RLFAKIKGIL PHEVEKEVQR
610 620 630 640 650
VVQELEMENI QDILAQNLSG GQNRKLTFGI AILGDPQVLL LDEPTAGLDP
660 670 680 690 700
LSRHRIWNLL KEGKSDRVIL FSTQFIDEAD ILADRKVFIS NGKLKCAGSS
710 720 730 740 750
LFLKKKWGIG YHLSLHLNER CDPESITSLV KQHISDAKLT AQSEEKLVYI
760 770 780 790 800
LPLERTNKFP ELYRDLDRCS NQGIEDYGVS ITTLNEVFLK LEGKSTIDES
810 820 830 840 850
DIGIWGQLQT DGAKDIGSLV ELEQVLSSFH ETRKTISGVA LWRQQVCAIA
860 870 880 890 900
KVRFLKLKKE RKSLWTILLL FGISFIPQLL EHLFYESYQK SYPWELSPNT
910 920 930 940 950
YFLSPGQQPQ DPLTHLLVIN KTGSTIDNFL HSLRRQNIAI EVDAFGTRNG
960 970 980 990 1000
TDDPSYNGAI IVSGDEKDHR FSIACNTKRL NCFPVLLDVI SNGLLGIFNS
1010 1020 1030 1040 1050
SEHIQTDRST FFEEHMDYEY GYRSNTFFWI PMAASFTPYI AMSSIGDYKK
1060 1070 1080 1090 1100
KAHSQLRISG LYPSAYWFGQ ALVDVSLYFL ILLLMQIMDY IFSPEEIIFI
1110 1120 1130 1140 1150
IQNLLIQILC SIGYVSSLVF LTYVISFIFR NGRKNSGIWS FFFLIVVIFS
1160 1170 1180 1190 1200
IVATDLNEYG FLGLFFGTML IPPFTLIGSL FIFSEISPDS MDYLGASESE
1210 1220 1230 1240 1250
IVYLALLIPY LHFLIFLFIL RCLEMNCRKK LMRKDPVFRI SPRSNAIFPN
1260 1270 1280 1290 1300
PEEPEGEEED IQMERMRTVN AMAVRDFDET PVIIASCLRK EYAGKKKNCF
1310 1320 1330 1340 1350
SKRKKKIATR NVSFCVKKGE VIGLLGHNGA GKSTTIKMIT GDTKPTAGQV
1360 1370 1380 1390 1400
ILKGSGGGEP LGFLGYCPQE NALWPNLTVR QHLEVYAAVK GLRKGDAMIA
1410 1420 1430 1440 1450
ITRLVDALKL QDQLKAPVKT LSEGIKRKLC FVLSILGNPS VVLLDEPSTG
1460 1470 1480 1490 1500
MDPEGQQQMW QVIRATFRNT ERGALLTTHY MAEAEAVCDR VAIMVSGRLR
1510 1520 1530 1540 1550
CIGSIQHLKS KFGKDYLLEM KLKNLAQMEP LHAEILRLFP QAAQQERFSS
1560 1570 1580 1590 1600
LMVYKLPVED VRPLSQAFFK LEIVKQSFDL EEYSLSQSTL EQVFLELSKE
1610 1620
QELGDLEEDF DPSVKWKLLL QEEP
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0Y4U7 | H0Y4U7_HUMAN | ATP-binding cassette sub-family A m... | ABCA9 | 1,586 | Annotation score: | ||
K7EJJ0 | K7EJJ0_HUMAN | ATP-binding cassette sub-family A m... | ABCA9 | 89 | Annotation score: |
Sequence cautioni
The sequence AAH62472 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAC11021 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 1430 | C → R in AAK30024 (Ref. 1) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_027594 | 353 | R → H2 PublicationsCorresponds to variant dbSNP:rs1860447Ensembl. | 1 | |
Natural variantiVAR_027595 | 785 | N → S. Corresponds to variant dbSNP:rs17684521Ensembl. | 1 | |
Natural variantiVAR_027596 | 1306 | K → T1 PublicationCorresponds to variant dbSNP:rs2302294Ensembl. | 1 | |
Natural variantiVAR_027597 | 1356 | G → S. Corresponds to variant dbSNP:rs9916254Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_020705 | 267 – 1624 | Missing in isoform 2. CuratedAdd BLAST | 1358 | |
Alternative sequenceiVSP_020706 | 268 – 1624 | Missing in isoform 5. 1 PublicationAdd BLAST | 1357 | |
Alternative sequenceiVSP_020707 | 1429 | L → VRAGLVVALQVP in isoform 3. Curated | 1 | |
Alternative sequenceiVSP_020708 | 1429 | L → AGDSGHL in isoform 4. Curated | 1 | |
Alternative sequenceiVSP_020709 | 1430 – 1624 | Missing in isoform 3 and isoform 4. CuratedAdd BLAST | 195 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY028899 mRNA Translation: AAK30024.1 AF423307 mRNA Translation: AAN32751.1 AF423346 , AF423308, AF423309, AF423310, AF423311, AF423312, AF423313, AF423314, AF423315, AF423316, AF423317, AF423318, AF423320, AF423321, AF423322, AF423323, AF423324, AF423325, AF423326, AF423327, AF423328, AF423329, AF423330, AF423331, AF423332, AF423333, AF423334, AF423335, AF423336, AF423337, AF423338, AF423339, AF423340, AF423341, AF423342, AF423343, AF423344, AF423345 Genomic DNA Translation: AAN32752.1 BC062472 mRNA Translation: AAH62472.1 Different initiation. AK057068 mRNA Translation: BAB71359.1 AK074491 mRNA Translation: BAC11021.1 Different initiation. |
CCDSi | CCDS11681.1 [Q8IUA7-1] |
RefSeqi | NP_525022.2, NM_080283.3 [Q8IUA7-1] |
Genome annotation databases
Ensembli | ENST00000340001; ENSP00000342216; ENSG00000154258 ENST00000495634; ENSP00000465601; ENSG00000154258 [Q8IUA7-5] |
GeneIDi | 10350 |
KEGGi | hsa:10350 |
MANE-Selecti | ENST00000340001.9; ENSP00000342216.3; NM_080283.4; NP_525022.2 |
UCSCi | uc002jhu.4, human [Q8IUA7-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
ABCMdb Database for mutations in ABC proteins |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY028899 mRNA Translation: AAK30024.1 AF423307 mRNA Translation: AAN32751.1 AF423346 , AF423308, AF423309, AF423310, AF423311, AF423312, AF423313, AF423314, AF423315, AF423316, AF423317, AF423318, AF423320, AF423321, AF423322, AF423323, AF423324, AF423325, AF423326, AF423327, AF423328, AF423329, AF423330, AF423331, AF423332, AF423333, AF423334, AF423335, AF423336, AF423337, AF423338, AF423339, AF423340, AF423341, AF423342, AF423343, AF423344, AF423345 Genomic DNA Translation: AAN32752.1 BC062472 mRNA Translation: AAH62472.1 Different initiation. AK057068 mRNA Translation: BAB71359.1 AK074491 mRNA Translation: BAC11021.1 Different initiation. |
CCDSi | CCDS11681.1 [Q8IUA7-1] |
RefSeqi | NP_525022.2, NM_080283.3 [Q8IUA7-1] |
3D structure databases
SMRi | Q8IUA7 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 115631, 7 interactors |
IntActi | Q8IUA7, 3 interactors |
STRINGi | 9606.ENSP00000342216 |
Protein family/group databases
TCDBi | 3.A.1.211.16, the atp-binding cassette (abc) superfamily |
PTM databases
GlyGeni | Q8IUA7, 3 sites |
iPTMneti | Q8IUA7 |
PhosphoSitePlusi | Q8IUA7 |
Genetic variation databases
BioMutai | ABCA9 |
DMDMi | 74762471 |
Proteomic databases
jPOSTi | Q8IUA7 |
MassIVEi | Q8IUA7 |
PaxDbi | Q8IUA7 |
PeptideAtlasi | Q8IUA7 |
PRIDEi | Q8IUA7 |
ProteomicsDBi | 70529 [Q8IUA7-1] 70531 [Q8IUA7-3] 70532 [Q8IUA7-4] |
Protocols and materials databases
Antibodypediai | 31822, 180 antibodies from 31 providers |
DNASUi | 10350 |
Genome annotation databases
Ensembli | ENST00000340001; ENSP00000342216; ENSG00000154258 ENST00000495634; ENSP00000465601; ENSG00000154258 [Q8IUA7-5] |
GeneIDi | 10350 |
KEGGi | hsa:10350 |
MANE-Selecti | ENST00000340001.9; ENSP00000342216.3; NM_080283.4; NP_525022.2 |
UCSCi | uc002jhu.4, human [Q8IUA7-1] |
Organism-specific databases
CTDi | 10350 |
DisGeNETi | 10350 |
GeneCardsi | ABCA9 |
HGNCi | HGNC:39, ABCA9 |
HPAi | ENSG00000154258, Low tissue specificity |
MIMi | 612507, gene |
neXtProti | NX_Q8IUA7 |
OpenTargetsi | ENSG00000154258 |
PharmGKBi | PA24384 |
VEuPathDBi | HostDB:ENSG00000154258 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0059, Eukaryota |
GeneTreei | ENSGT00940000162444 |
HOGENOMi | CLU_054320_0_0_1 |
InParanoidi | Q8IUA7 |
OMAi | YRFSIAC |
OrthoDBi | 131191at2759 |
PhylomeDBi | Q8IUA7 |
TreeFami | TF105192 |
Enzyme and pathway databases
PathwayCommonsi | Q8IUA7 |
Reactomei | R-HSA-1369062, ABC transporters in lipid homeostasis |
SignaLinki | Q8IUA7 |
Miscellaneous databases
BioGRID-ORCSi | 10350, 4 hits in 1036 CRISPR screens |
ChiTaRSi | ABCA9, human |
GeneWikii | ABCA9 |
GenomeRNAii | 10350 |
Pharosi | Q8IUA7, Tbio |
PROi | PR:Q8IUA7 |
RNActi | Q8IUA7, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000154258, Expressed in sural nerve and 189 other tissues |
ExpressionAtlasi | Q8IUA7, baseline and differential |
Genevisiblei | Q8IUA7, HS |
Family and domain databases
Gene3Di | 3.40.50.300, 2 hits |
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR003439, ABC_transporter-like_ATP-bd IPR026082, ABCA IPR030370, ABCA9 IPR027417, P-loop_NTPase |
PANTHERi | PTHR19229, PTHR19229, 1 hit PTHR19229:SF120, PTHR19229:SF120, 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 PS50893, ABC_TRANSPORTER_2, 2 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | ABCA9_HUMAN | |
Accessioni | Q8IUA7Primary (citable) accession number: Q8IUA7 Secondary accession number(s): Q6P655 Q96MD8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 3, 2006 |
Last sequence update: | March 1, 2003 | |
Last modified: | February 23, 2022 | |
This is version 143 of the entry and version 1 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 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families