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UniProtKB - Q8IUA7 (ABCA9_HUMAN)

Protein

ATP-binding cassette sub-family A member 9

Gene

ABCA9

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

Functioni

May play a role in monocyte differentiation and lipid homeostasis.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi517 – 524ATP 1PROSITE-ProRule annotation8
Nucleotide bindingi1326 – 1333ATP 2PROSITE-ProRule annotation8

GO - Molecular functioni

  • ATPase activity, coupled to transmembrane movement of substances Source: GO_Central
  • ATP binding Source: UniProtKB-KW
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processTransport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-1369062 ABC transporters in lipid homeostasis

Protein family/group databases

TCDBi3.A.1.211.16 the atp-binding cassette (abc) superfamily

Names & Taxonomyi

Protein namesi
Recommended name:
ATP-binding cassette sub-family A member 9
Gene namesi
Name:ABCA9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000154258.16
HGNCiHGNC:39 ABCA9
MIMi612507 gene
neXtProtiNX_Q8IUA7

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei31 – 51HelicalSequence analysisAdd BLAST21
Transmembranei221 – 243HelicalSequence analysisAdd BLAST23
Transmembranei269 – 289HelicalSequence analysisAdd BLAST21
Transmembranei300 – 320HelicalSequence analysisAdd BLAST21
Transmembranei329 – 349HelicalSequence analysisAdd BLAST21
Transmembranei354 – 374HelicalSequence analysisAdd BLAST21
Transmembranei398 – 418HelicalSequence analysisAdd BLAST21
Transmembranei864 – 884HelicalSequence analysisAdd BLAST21
Transmembranei1026 – 1046HelicalSequence analysisAdd BLAST21
Transmembranei1065 – 1085HelicalSequence analysisAdd BLAST21
Transmembranei1108 – 1128HelicalSequence analysisAdd BLAST21
Transmembranei1136 – 1156HelicalSequence analysisAdd BLAST21
Transmembranei1163 – 1183HelicalSequence analysisAdd BLAST21
Transmembranei1200 – 1220HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi10350
OpenTargetsiENSG00000154258
PharmGKBiPA24384

Polymorphism and mutation databases

BioMutaiABCA9
DMDMi74762471

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002506801 – 1624ATP-binding cassette sub-family A member 9Add BLAST1624

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi120N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi195N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi949N-linked (GlcNAc...) asparagine1 Publication1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8IUA7
PeptideAtlasiQ8IUA7
PRIDEiQ8IUA7
ProteomicsDBi70529
70530 [Q8IUA7-2]
70531 [Q8IUA7-3]
70532 [Q8IUA7-4]
70533 [Q8IUA7-5]

PTM databases

iPTMnetiQ8IUA7
PhosphoSitePlusiQ8IUA7

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

BgeeiENSG00000154258 Expressed in 174 organ(s), highest expression level in mucosa of stomach
CleanExiHS_ABCA9
ExpressionAtlasiQ8IUA7 baseline and differential
GenevisibleiQ8IUA7 HS

Organism-specific databases

HPAiHPA052113
HPA054823

Interactioni

Protein-protein interaction databases

BioGridi115631, 4 interactors
IntActiQ8IUA7, 2 interactors
STRINGi9606.ENSP00000342216

Structurei

3D structure databases

ProteinModelPortaliQ8IUA7
SMRiQ8IUA7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini481 – 716ABC transporter 1PROSITE-ProRule annotationAdd BLAST236
Domaini1288 – 1521ABC transporter 2PROSITE-ProRule annotationAdd BLAST234

Sequence similaritiesi

Belongs to the ABC transporter superfamily. ABCA family.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0059 Eukaryota
COG1131 LUCA
GeneTreeiENSGT00760000118965
HOGENOMiHOG000231057
HOVERGENiHBG079884
InParanoidiQ8IUA7
KOiK05651
OMAiWFQHQRA
OrthoDBiEOG091G00AG
PhylomeDBiQ8IUA7
TreeFamiTF105192

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR003439 ABC_transporter-like
IPR026082 ABCA
IPR027417 P-loop_NTPase
PANTHERiPTHR19229 PTHR19229, 1 hit
PfamiView protein in Pfam
PF00005 ABC_tran, 2 hits
SMARTiView protein in SMART
SM00382 AAA, 2 hits
SUPFAMiSSF52540 SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS50893 ABC_TRANSPORTER_2, 2 hits

Sequences (5+)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

This 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 '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
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
Length:1,624
Mass (Da):184,362
Last modified:March 1, 2003 - v1
Checksum:i0847DC95DCC680D1
GO
Isoform 2 (identifier: Q8IUA7-2) [UniParc]FASTAAdd to basket
Also known as: ABCA9delta+55

The sequence of this isoform differs from the canonical sequence as follows:
     267-1624: Missing.

Note: No experimental confirmation available.
Show »
Length:266
Mass (Da):30,812
Checksum:iD870EB4EBBB5F84B
GO
Isoform 3 (identifier: Q8IUA7-3) [UniParc]FASTAAdd to basket
Also known as: ABCA9delta+73

The sequence of this isoform differs from the canonical sequence as follows:
     1429-1429: L → VRAGLVVALQVP
     1430-1624: Missing.

Note: No experimental confirmation available.
Show »
Length:1,440
Mass (Da):163,101
Checksum:iBA4082AFCACBF405
GO
Isoform 4 (identifier: Q8IUA7-4) [UniParc]FASTAAdd to basket
Also known as: ABCA9delta-95

The sequence of this isoform differs from the canonical sequence as follows:
     1429-1429: L → AGDSGHL
     1430-1624: Missing.

Note: No experimental confirmation available.
Show »
Length:1,435
Mass (Da):162,535
Checksum:i1E072AD74AB04515
GO
Isoform 5 (identifier: Q8IUA7-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     268-1624: Missing.

Note: No experimental confirmation available.
Show »
Length:267
Mass (Da):30,998
Checksum:i109870EB4EBBB5F8
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y4U7H0Y4U7_HUMAN
ATP-binding cassette sub-family A m...
ABCA9
1,586Annotation score:
K7EJJ0K7EJJ0_HUMAN
ATP-binding cassette sub-family A m...
ABCA9
89Annotation score:

Sequence cautioni

The sequence AAH62472 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC11021 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1430C → R in AAK30024 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027594353R → H2 PublicationsCorresponds to variant dbSNP:rs1860447Ensembl.1
Natural variantiVAR_027595785N → S. Corresponds to variant dbSNP:rs17684521Ensembl.1
Natural variantiVAR_0275961306K → T1 PublicationCorresponds to variant dbSNP:rs2302294Ensembl.1
Natural variantiVAR_0275971356G → S. Corresponds to variant dbSNP:rs9916254Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_020705267 – 1624Missing in isoform 2. CuratedAdd BLAST1358
Alternative sequenceiVSP_020706268 – 1624Missing in isoform 5. 1 PublicationAdd BLAST1357
Alternative sequenceiVSP_0207071429L → VRAGLVVALQVP in isoform 3. Curated1
Alternative sequenceiVSP_0207081429L → AGDSGHL in isoform 4. Curated1
Alternative sequenceiVSP_0207091430 – 1624Missing in isoform 3 and isoform 4. CuratedAdd BLAST195

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.
CCDSiCCDS11681.1 [Q8IUA7-1]
RefSeqiNP_525022.2, NM_080283.3 [Q8IUA7-1]
UniGeneiHs.131686

Genome annotation databases

EnsembliENST00000340001; ENSP00000342216; ENSG00000154258 [Q8IUA7-1]
ENST00000495634; ENSP00000465601; ENSG00000154258 [Q8IUA7-5]
GeneIDi10350
KEGGihsa:10350
UCSCiuc002jhu.4 human [Q8IUA7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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.
CCDSiCCDS11681.1 [Q8IUA7-1]
RefSeqiNP_525022.2, NM_080283.3 [Q8IUA7-1]
UniGeneiHs.131686

3D structure databases

ProteinModelPortaliQ8IUA7
SMRiQ8IUA7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115631, 4 interactors
IntActiQ8IUA7, 2 interactors
STRINGi9606.ENSP00000342216

Protein family/group databases

TCDBi3.A.1.211.16 the atp-binding cassette (abc) superfamily

PTM databases

iPTMnetiQ8IUA7
PhosphoSitePlusiQ8IUA7

Polymorphism and mutation databases

BioMutaiABCA9
DMDMi74762471

Proteomic databases

PaxDbiQ8IUA7
PeptideAtlasiQ8IUA7
PRIDEiQ8IUA7
ProteomicsDBi70529
70530 [Q8IUA7-2]
70531 [Q8IUA7-3]
70532 [Q8IUA7-4]
70533 [Q8IUA7-5]

Protocols and materials databases

DNASUi10350
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000340001; ENSP00000342216; ENSG00000154258 [Q8IUA7-1]
ENST00000495634; ENSP00000465601; ENSG00000154258 [Q8IUA7-5]
GeneIDi10350
KEGGihsa:10350
UCSCiuc002jhu.4 human [Q8IUA7-1]

Organism-specific databases

CTDi10350
DisGeNETi10350
EuPathDBiHostDB:ENSG00000154258.16
GeneCardsiABCA9
H-InvDBiHIX0014120
HGNCiHGNC:39 ABCA9
HPAiHPA052113
HPA054823
MIMi612507 gene
neXtProtiNX_Q8IUA7
OpenTargetsiENSG00000154258
PharmGKBiPA24384
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0059 Eukaryota
COG1131 LUCA
GeneTreeiENSGT00760000118965
HOGENOMiHOG000231057
HOVERGENiHBG079884
InParanoidiQ8IUA7
KOiK05651
OMAiWFQHQRA
OrthoDBiEOG091G00AG
PhylomeDBiQ8IUA7
TreeFamiTF105192

Enzyme and pathway databases

ReactomeiR-HSA-1369062 ABC transporters in lipid homeostasis

Miscellaneous databases

GeneWikiiABCA9
GenomeRNAii10350
PROiPR:Q8IUA7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000154258 Expressed in 174 organ(s), highest expression level in mucosa of stomach
CleanExiHS_ABCA9
ExpressionAtlasiQ8IUA7 baseline and differential
GenevisibleiQ8IUA7 HS

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR003439 ABC_transporter-like
IPR026082 ABCA
IPR027417 P-loop_NTPase
PANTHERiPTHR19229 PTHR19229, 1 hit
PfamiView protein in Pfam
PF00005 ABC_tran, 2 hits
SMARTiView protein in SMART
SM00382 AAA, 2 hits
SUPFAMiSSF52540 SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS50893 ABC_TRANSPORTER_2, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiABCA9_HUMAN
AccessioniPrimary (citable) accession number: Q8IUA7
Secondary accession number(s): Q6P655
, Q8N2S4, Q8WWZ5, Q96MD8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: March 1, 2003
Last modified: November 7, 2018
This is version 124 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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