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Q8IUA7 (ABCA9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 90. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
ATP-binding cassette sub-family A member 9
Gene names
Name:ABCA9
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1624 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May play a role in monocyte differentiation and lipid homeostasis. Ref.2

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Tissue specificity

Widely expressed with higher expression in heart. Ref.1

Developmental stage

Expressed in fetal tissues with higher expression in fetal heart and kidney. Ref.2

Induction

Up-regulated during monocyte differentiation into macrophages. Down-regulated by cholesterol loading of macrophages. Ref.2

Sequence similarities

Belongs to the ABC transporter superfamily. ABCA family.

Contains 2 ABC transporter domains.

Sequence caution

The sequence AAH62472.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAC11021.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
   Biological processTransport
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
Transmembrane
Transmembrane helix
   LigandATP-binding
Nucleotide-binding
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processtransport

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

mitochondrion

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionATP binding

Inferred from electronic annotation. Source: UniProtKB-KW

ATPase activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8IUA7-1)

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.
Isoform 2 (identifier: Q8IUA7-2)

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.
Isoform 3 (identifier: Q8IUA7-3)

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.
Isoform 4 (identifier: Q8IUA7-4)

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.
Isoform 5 (identifier: Q8IUA7-5)

The sequence of this isoform differs from the canonical sequence as follows:
     268-1624: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 16241624ATP-binding cassette sub-family A member 9
PRO_0000250680

Regions

Transmembrane31 – 5121Helical; Potential
Transmembrane221 – 24323Helical; Potential
Transmembrane269 – 28921Helical; Potential
Transmembrane300 – 32021Helical; Potential
Transmembrane329 – 34921Helical; Potential
Transmembrane354 – 37421Helical; Potential
Transmembrane398 – 41821Helical; Potential
Transmembrane864 – 88421Helical; Potential
Transmembrane1026 – 104621Helical; Potential
Transmembrane1065 – 108521Helical; Potential
Transmembrane1108 – 112821Helical; Potential
Transmembrane1136 – 115621Helical; Potential
Transmembrane1163 – 118321Helical; Potential
Transmembrane1200 – 122021Helical; Potential
Domain481 – 716236ABC transporter 1
Domain1288 – 1521234ABC transporter 2
Nucleotide binding517 – 5248ATP 1 Potential
Nucleotide binding1326 – 13338ATP 2 Potential

Amino acid modifications

Glycosylation1201N-linked (GlcNAc...) Potential
Glycosylation1951N-linked (GlcNAc...) Potential
Glycosylation9491N-linked (GlcNAc...) Ref.5

Natural variations

Alternative sequence267 – 16241358Missing in isoform 2.
VSP_020705
Alternative sequence268 – 16241357Missing in isoform 5.
VSP_020706
Alternative sequence14291L → VRAGLVVALQVP in isoform 3.
VSP_020707
Alternative sequence14291L → AGDSGHL in isoform 4.
VSP_020708
Alternative sequence1430 – 1624195Missing in isoform 3 and isoform 4.
VSP_020709
Natural variant3531R → H. Ref.1 Ref.4
Corresponds to variant rs1860447 [ dbSNP | Ensembl ].
VAR_027594
Natural variant7851N → S.
Corresponds to variant rs17684521 [ dbSNP | Ensembl ].
VAR_027595
Natural variant13061K → T. Ref.1
Corresponds to variant rs2302294 [ dbSNP | Ensembl ].
VAR_027596
Natural variant13561G → S.
Corresponds to variant rs9916254 [ dbSNP | Ensembl ].
VAR_027597

Experimental info

Sequence conflict14301C → R in AAK30024. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2003. Version 1.
Checksum: 0847DC95DCC680D1

FASTA1,624184,362
        10         20         30         40         50         60 
MSKRRMSVGQ QTWALLCKNC LKKWRMKRQT LLEWLFSFLL VLFLYLFFSN LHQVHDTPQM 

        70         80         90        100        110        120 
SSMDLGRVDS FNDTNYVIAF APESKTTQEI MNKVASAPFL KGRTIMGWPD EKSMDELDLN 

       130        140        150        160        170        180 
YSIDAVRVIF TDTFSYHLKF SWGHRIPMMK EHRDHSAHCQ AVNEKMKCEG SEFWEKGFVA 

       190        200        210        220        230        240 
FQAAINAAII EIATNHSVME QLMSVTGVHM KILPFVAQGG VATDFFIFFC IISFSTFIYY 

       250        260        270        280        290        300 
VSVNVTQERQ YITSLMTMMG LRESAFWLSW GLMYAGFILI MATLMALIVK SAQIVVLTGF 

       310        320        330        340        350        360 
VMVFTLFLLY GLSLITLAFL MSVLIKKPFL TGLVVFLLIV FWGILGFPAL YTRLPAFLEW 

       370        380        390        400        410        420 
TLCLLSPFAF TVGMAQLIHL DYDVNSNAHL DSSQNPYLII ATLFMLVFDT LLYLVLTLYF 

       430        440        450        460        470        480 
DKILPAEYGH RCSPLFFLKS CFWFQHGRAN HVVLENETDS DPTPNDCFEP VSPEFCGKEA 

       490        500        510        520        530        540 
IRIKNLKKEY AGKCERVEAL KGVVFDIYEG QITALLGHSG AGKTTLLNIL SGLSVPTSGS 

       550        560        570        580        590        600 
VTVYNHTLSR MADIENISKF TGFCPQSNVQ FGFLTVKENL RLFAKIKGIL PHEVEKEVQR 

       610        620        630        640        650        660 
VVQELEMENI QDILAQNLSG GQNRKLTFGI AILGDPQVLL LDEPTAGLDP LSRHRIWNLL 

       670        680        690        700        710        720 
KEGKSDRVIL FSTQFIDEAD ILADRKVFIS NGKLKCAGSS LFLKKKWGIG YHLSLHLNER 

       730        740        750        760        770        780 
CDPESITSLV KQHISDAKLT AQSEEKLVYI LPLERTNKFP ELYRDLDRCS NQGIEDYGVS 

       790        800        810        820        830        840 
ITTLNEVFLK LEGKSTIDES DIGIWGQLQT DGAKDIGSLV ELEQVLSSFH ETRKTISGVA 

       850        860        870        880        890        900 
LWRQQVCAIA KVRFLKLKKE RKSLWTILLL FGISFIPQLL EHLFYESYQK SYPWELSPNT 

       910        920        930        940        950        960 
YFLSPGQQPQ DPLTHLLVIN KTGSTIDNFL HSLRRQNIAI EVDAFGTRNG TDDPSYNGAI 

       970        980        990       1000       1010       1020 
IVSGDEKDHR FSIACNTKRL NCFPVLLDVI SNGLLGIFNS SEHIQTDRST FFEEHMDYEY 

      1030       1040       1050       1060       1070       1080 
GYRSNTFFWI PMAASFTPYI AMSSIGDYKK KAHSQLRISG LYPSAYWFGQ ALVDVSLYFL 

      1090       1100       1110       1120       1130       1140 
ILLLMQIMDY IFSPEEIIFI IQNLLIQILC SIGYVSSLVF LTYVISFIFR NGRKNSGIWS 

      1150       1160       1170       1180       1190       1200 
FFFLIVVIFS IVATDLNEYG FLGLFFGTML IPPFTLIGSL FIFSEISPDS MDYLGASESE 

      1210       1220       1230       1240       1250       1260 
IVYLALLIPY LHFLIFLFIL RCLEMNCRKK LMRKDPVFRI SPRSNAIFPN PEEPEGEEED 

      1270       1280       1290       1300       1310       1320 
IQMERMRTVN AMAVRDFDET PVIIASCLRK EYAGKKKNCF SKRKKKIATR NVSFCVKKGE 

      1330       1340       1350       1360       1370       1380 
VIGLLGHNGA GKSTTIKMIT GDTKPTAGQV ILKGSGGGEP LGFLGYCPQE NALWPNLTVR 

      1390       1400       1410       1420       1430       1440 
QHLEVYAAVK GLRKGDAMIA ITRLVDALKL QDQLKAPVKT LSEGIKRKLC FVLSILGNPS 

      1450       1460       1470       1480       1490       1500 
VVLLDEPSTG MDPEGQQQMW QVIRATFRNT ERGALLTTHY MAEAEAVCDR VAIMVSGRLR 

      1510       1520       1530       1540       1550       1560 
CIGSIQHLKS KFGKDYLLEM KLKNLAQMEP LHAEILRLFP QAAQQERFSS LMVYKLPVED 

      1570       1580       1590       1600       1610       1620 
VRPLSQAFFK LEIVKQSFDL EEYSLSQSTL EQVFLELSKE QELGDLEEDF DPSVKWKLLL 


QEEP 

« Hide

Isoform 2 (ABCA9delta+55) [UniParc].

Checksum: D870EB4EBBB5F84B
Show »

FASTA26630,812
Isoform 3 (ABCA9delta+73) [UniParc].

Checksum: BA4082AFCACBF405
Show »

FASTA1,440163,101
Isoform 4 (ABCA9delta-95) [UniParc].

Checksum: 1E072AD74AB04515
Show »

FASTA1,435162,535
Isoform 5 [UniParc].

Checksum: 109870EB4EBBB5F8
Show »

FASTA26730,998

References

« Hide 'large scale' references
[1]"Identifying and characterizing a five-gene cluster of ATP-binding cassette transporters mapping to human chromosome 17q24: a new subgroup within the ABCA subfamily."
Arnould I., Schriml L.M., Prades C., Lachtermacher-Triunfol M., Schneider T., Maintoux C., Lemoine C., Debono D., Devaud C., Naudin L., Bauche S., Annat M., Annilo T., Allikmets R., Gold B., Denefle P., Rosier M., Dean M.
GeneScreen 1:157-164(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS HIS-353 AND THR-1306, TISSUE SPECIFICITY.
[2]"Molecular structure of a novel cholesterol-responsive A subclass ABC transporter, ABCA9."
Piehler A., Kaminski W.E., Wenzel J.J., Langmann T., Schmitz G.
Biochem. Biophys. Res. Commun. 295:408-416(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), ALTERNATIVE SPLICING (ISOFORMS 2; 3 AND 4), FUNCTION, INDUCTION, DEVELOPMENTAL STAGE.
Tissue: Macrophage.
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5).
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-856 (ISOFORM 1), VARIANT HIS-353.
Tissue: Embryo and Small intestine.
[5]"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-949.
Tissue: Liver.

Web resources

ABCMdb

Database for mutations in ABC proteins

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY028899 mRNA. Translation: AAK30024.1.
AF423307 mRNA. Translation: AAN32751.1.
AF423346 expand/collapse EMBL AC list , 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.
RefSeqNP_525022.2. NM_080283.3.
UniGeneHs.131686.

3D structure databases

ProteinModelPortalQ8IUA7.
SMRQ8IUA7. Positions 453-747, 1290-1579.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ8IUA7. 2 interactions.
STRING9606.ENSP00000342216.

PTM databases

PhosphoSiteQ8IUA7.

Polymorphism databases

DMDM74762471.

Proteomic databases

PaxDbQ8IUA7.
PRIDEQ8IUA7.

Protocols and materials databases

DNASU10350.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000340001; ENSP00000342216; ENSG00000154258. [Q8IUA7-1]
ENST00000370732; ENSP00000359767; ENSG00000154258. [Q8IUA7-4]
ENST00000495634; ENSP00000465601; ENSG00000154258. [Q8IUA7-5]
GeneID10350.
KEGGhsa:10350.
UCSCuc002jhu.3. human. [Q8IUA7-1]
uc002jhv.3. human. [Q8IUA7-5]

Organism-specific databases

CTD10350.
GeneCardsGC17M066970.
H-InvDBHIX0014120.
HGNCHGNC:39. ABCA9.
HPAHPA054823.
MIM612507. gene.
neXtProtNX_Q8IUA7.
PharmGKBPA24384.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1131.
HOGENOMHOG000231057.
HOVERGENHBG079884.
InParanoidQ8IUA7.
KOK05651.
OMAESDIGIW.
OrthoDBEOG73Z2SB.
PhylomeDBQ8IUA7.
TreeFamTF105192.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ8IUA7.
BgeeQ8IUA7.
CleanExHS_ABCA9.
GenevestigatorQ8IUA7.

Family and domain databases

Gene3D3.40.50.300. 2 hits.
InterProIPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERPTHR19229. PTHR19229. 1 hit.
PfamPF00005. ABC_tran. 2 hits.
[Graphical view]
SMARTSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMSSF52540. SSF52540. 2 hits.
PROSITEPS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiABCA9.
GenomeRNAi10350.
NextBio39247.
PROQ8IUA7.
SOURCESearch...

Entry information

Entry nameABCA9_HUMAN
AccessionPrimary (citable) accession number: Q8IUA7
Secondary accession number(s): Q6P655 expand/collapse secondary AC list , Q8N2S4, Q8WWZ5, Q96MD8
Entry history
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: March 1, 2003
Last modified: April 16, 2014
This is version 90 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM