RBCC Red Blood Cell Collection

ABCA7 [Confidence: medium (present in either hRBCD or BSc_CH or PM22954596)]
ATP-binding cassette sub-family A member 7 (ABCA-SSN; Autoantigen SS-N; Macrophage ABC transporter)

Comments
Isoform Q8IZY2-2 was detected.

UniProt Q8IZY2
ID ABCA7_HUMAN Reviewed; 2146 AA.
AC Q8IZY2; Q96S58; Q9BZC4; Q9NR73; Q9UKP8;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
read moreDT 04-DEC-2007, sequence version 3.
DT 22-JAN-2014, entry version 91.
DE RecName: Full=ATP-binding cassette sub-family A member 7;
DE AltName: Full=ABCA-SSN;
DE AltName: Full=Autoantigen SS-N;
DE AltName: Full=Macrophage ABC transporter;
GN Name=ABCA7;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS GLN-1349; ALA-1527
RP AND SER-2045, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, AND INDUCTION.
RC TISSUE=Macrophage;
RX PubMed=10873640; DOI=10.1006/bbrc.2000.2954;
RA Kaminski W.E., Orso E., Diederich W., Klucken J., Drobnik W.,
RA Schmitz G.;
RT "Identification of a novel human sterol-sensitive ATP-binding cassette
RT transporter (ABCA7).";
RL Biochem. Biophys. Res. Commun. 273:532-538(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT ALA-1527.
RX PubMed=11095984; DOI=10.1006/bbrc.2000.3880;
RA Kaminski W.E., Piehler A., Schmitz G.;
RT "Genomic organization of the human cholesterol-responsive ABC
RT transporter ABCA7: tandem linkage with the minor histocompatibility
RT antigen HA-1 gene.";
RL Biochem. Biophys. Res. Commun. 278:782-789(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND VARIANTS GLN-1349;
RP ALA-1527 AND SER-2045.
RC TISSUE=Thymus;
RX PubMed=11355874; DOI=10.1006/bbrc.2001.4891;
RA Tanaka A.R., Ikeda Y., Abe-Dohmae S., Arakawa R., Sadanami K.,
RA Kidera A., Nakagawa S., Nagase T., Aoki R., Kioka N., Amachi T.,
RA Yokoyama S., Ueda K.;
RT "Human ABCA1 contains a large amino-terminal extracellular domain
RT homologous to an epitope of Sjogren's Syndrome.";
RL Biochem. Biophys. Res. Commun. 283:1019-1025(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS GLY-188; ALA-1527 AND
RP SER-2045, TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RC TISSUE=Spleen;
RX PubMed=11435699;
RA Broccardo C., Osorio J., Luciani M.-F., Schriml L.M., Prades C.,
RA Shulenin S., Arnould I., Naudin L., Lafargue C., Rosier M., Jordan B.,
RA Mattei M.-G., Dean M., Denefle P., Chimini G.;
RT "Comparative analysis of the promoter structure and genomic
RT organization of the human and mouse ABCA7 gene encoding a novel ABCA
RT transporter.";
RL Cytogenet. Cell Genet. 92:264-270(2001).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J.,
RA Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M.,
RA Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E.,
RA Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M.,
RA Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C.,
RA Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M.,
RA Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H.,
RA Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S.,
RA Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J.,
RA Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M.,
RA Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J.,
RA Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D.,
RA Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A.,
RA Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I.,
RA Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 195-352 (ISOFORMS 1/2).
RC TISSUE=Cervix carcinoma;
RA Niwa M., Maruyama M., Fujimoto T., Dohi K., Maruyama I.N.;
RT "Isolation of autoantigen cDNAs by lambda phage surface display.";
RL Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP FUNCTION, TISSUE SPECIFICITY, AND SUBCELLULAR LOCATION.
RX PubMed=14592415; DOI=10.1016/j.bbrc.2003.10.002;
RA Ikeda Y., Abe-Dohmae S., Munehira Y., Aoki R., Kawamoto S., Furuya A.,
RA Shitara K., Amachi T., Kioka N., Matsuo M., Yokoyama S., Ueda K.;
RT "Posttranscriptional regulation of human ABCA7 and its function for
RT the apoA-I-dependent lipid release.";
RL Biochem. Biophys. Res. Commun. 311:313-318(2003).
RN [8]
RP FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=12917409; DOI=10.1074/jbc.M307831200;
RA Wang N., Lan D., Gerbod-Giannone M., Linsel-Nitschke P., Jehle A.W.,
RA Chen W., Martinez L.O., Tall A.R.;
RT "ATP-binding cassette transporter A7 (ABCA7) binds apolipoprotein A-I
RT and mediates cellular phospholipid but not cholesterol efflux.";
RL J. Biol. Chem. 278:42906-42912(2003).
RN [9]
RP FUNCTION, AND INDUCTION.
RX PubMed=12925201; DOI=10.1046/j.1523-1747.2003.12404.x;
RA Kielar D., Kaminski W.E., Liebisch G., Piehler A., Wenzel J.J.,
RA Moehle C., Heimerl S., Langmann T., Friedrich S.O., Boettcher A.,
RA Barlage S., Drobnik W., Schmitz G.;
RT "Adenosine triphosphate binding cassette (ABC) transporters are
RT expressed and regulated during terminal keratinocyte differentiation:
RT a potential role for ABCA7 in epidermal lipid reorganization.";
RL J. Invest. Dermatol. 121:465-474(2003).
RN [10]
RP FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=14570867; DOI=10.1074/jbc.M309888200;
RA Abe-Dohmae S., Ikeda Y., Matsuo M., Hayashi M., Okuhira K., Ueda K.,
RA Yokoyama S.;
RT "Human ABCA7 supports apolipoprotein-mediated release of cellular
RT cholesterol and phospholipid to generate high density lipoprotein.";
RL J. Biol. Chem. 279:604-611(2004).
RN [11]
RP VARIANTS GLY-188; ALA-319; ARG-395; HIS-463; THR-718; GLN-1349;
RP ARG-1686 AND SER-2045.
RX PubMed=12111378; DOI=10.1007/s100380200041;
RA Iida A., Saito S., Sekine A., Mishima C., Kitamura Y., Kondo K.,
RA Harigae S., Osawa S., Nakamura Y.;
RT "Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes
RT encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8,
RT ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and
RT ABCG8.";
RL J. Hum. Genet. 47:285-310(2002).
CC -!- FUNCTION: Plays a role in phagocytosis by macrophages of apoptotic
CC cells. Binds APOA1 and may function in apolipoprotein-mediated
CC phospholipid efflux from cells. May also mediate cholesterol
CC efflux. May regulate cellular ceramide homeostasis during
CC keratinocytes differentiation.
CC -!- SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
CC Golgi apparatus membrane; Multi-pass membrane protein. Endosome
CC membrane; Multi-pass membrane protein. Note=Localizes to cell
CC membrane ruffles and phagocytic cups of macrophages stimulated
CC with C1q or apoptotic cells. Localizes to the cytoplasm of resting
CC macrophages, probably in Golgi and endosomes. Localizes to the
CC apical brush border of cells in the proximal tubules of kidney.
CC Isoform 2 may localize to the endoplasmic reticulum.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1; Synonyms=Type 1;
CC IsoId=Q8IZY2-1; Sequence=Displayed;
CC Name=2; Synonyms=Type 2;
CC IsoId=Q8IZY2-2; Sequence=VSP_020701, VSP_020702;
CC Note=Inactive for apoA-I-mediated lipid release;
CC -!- TISSUE SPECIFICITY: Expressed in leukocytes (at protein level).
CC Widely expressed. Highly expressed in myelo-lymphatic tissues
CC including peripheral leukocytes, thymus, spleen and bone marrow.
CC Isoform 2 is more abundant in lymph node, spleen, thymus and
CC trachea than isoform 1 which is more strongly expressed in brain
CC and bone marrow.
CC -!- DEVELOPMENTAL STAGE: Expressed in fetal tissues. Strongly
CC expressed in fetal liver.
CC -!- INDUCTION: Up-regulated in macrophages upon cholesterol uptake and
CC inversely regulated upon cholesterol deloading from the cells (at
CC protein level). Up-regulated in keratinocytes during terminal
CC differentiation.
CC -!- SIMILARITY: Belongs to the ABC transporter superfamily. ABCA
CC family.
CC -!- SIMILARITY: Contains 2 ABC transporter domains.
CC -!- WEB RESOURCE: Name=ABCMdb; Note=Database for mutations in ABC
CC proteins;
CC URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q8IZY2";
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DR EMBL; AF250238; AAF85794.1; -; mRNA.
DR EMBL; AF311102; AAN04657.1; -; Genomic_DNA.
DR EMBL; AF311058; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311059; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311060; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311061; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311062; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311063; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311064; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311065; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311066; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311067; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311068; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311057; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311069; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311070; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311071; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311072; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311073; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311074; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311075; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311076; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311077; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311078; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311079; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311080; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311081; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311082; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311083; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311084; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311085; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311086; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311087; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311088; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311089; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311090; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311091; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311092; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311093; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311094; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311095; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311096; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311097; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311098; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311099; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311100; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AF311101; AAN04657.1; JOINED; Genomic_DNA.
DR EMBL; AB055390; BAB62294.1; -; mRNA.
DR EMBL; AF328787; AAK00959.1; -; mRNA.
DR EMBL; AC011558; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AF140342; AAF06727.1; -; mRNA.
DR RefSeq; NP_061985.2; NM_019112.3.
DR UniGene; Hs.134514; -.
DR ProteinModelPortal; Q8IZY2; -.
DR IntAct; Q8IZY2; 1.
DR STRING; 9606.ENSP00000263094; -.
DR TCDB; 3.A.1.211.10; the atp-binding cassette (abc) superfamily.
DR PhosphoSite; Q8IZY2; -.
DR DMDM; 161784300; -.
DR PaxDb; Q8IZY2; -.
DR PRIDE; Q8IZY2; -.
DR DNASU; 10347; -.
DR Ensembl; ENST00000263094; ENSP00000263094; ENSG00000064687.
DR Ensembl; ENST00000433129; ENSP00000414062; ENSG00000064687.
DR Ensembl; ENST00000435683; ENSP00000465322; ENSG00000064687.
DR GeneID; 10347; -.
DR KEGG; hsa:10347; -.
DR UCSC; uc002lqw.4; human.
DR CTD; 10347; -.
DR GeneCards; GC19P001040; -.
DR H-InvDB; HIX0014569; -.
DR HGNC; HGNC:37; ABCA7.
DR HPA; HPA041564; -.
DR MIM; 605414; gene.
DR neXtProt; NX_Q8IZY2; -.
DR PharmGKB; PA24382; -.
DR eggNOG; COG1131; -.
DR HOGENOM; HOG000231547; -.
DR HOVERGEN; HBG050436; -.
DR InParanoid; Q8IZY2; -.
DR KO; K05645; -.
DR OMA; VRIKIRM; -.
DR OrthoDB; EOG78D7J6; -.
DR PhylomeDB; Q8IZY2; -.
DR Reactome; REACT_15518; Transmembrane transport of small molecules.
DR ChiTaRS; ABCA7; human.
DR GeneWiki; ABCA7; -.
DR GenomeRNAi; 10347; -.
DR NextBio; 39239; -.
DR PRO; PR:Q8IZY2; -.
DR ArrayExpress; Q8IZY2; -.
DR Bgee; Q8IZY2; -.
DR CleanEx; HS_ABCA7; -.
DR Genevestigator; Q8IZY2; -.
DR GO; GO:0016324; C:apical plasma membrane; IEA:Ensembl.
DR GO; GO:0043190; C:ATP-binding cassette (ABC) transporter complex; TAS:ProtInc.
DR GO; GO:0010008; C:endosome membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005794; C:Golgi apparatus; IDA:HPA.
DR GO; GO:0000139; C:Golgi membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral to membrane; TAS:ProtInc.
DR GO; GO:0005524; F:ATP binding; TAS:ProtInc.
DR GO; GO:0016887; F:ATPase activity; IEA:InterPro.
DR GO; GO:0005548; F:phospholipid transporter activity; IEA:Ensembl.
DR GO; GO:0005215; F:transporter activity; TAS:ProtInc.
DR GO; GO:0006200; P:ATP catabolic process; IEA:GOC.
DR GO; GO:0006909; P:phagocytosis; IEA:UniProtKB-KW.
DR GO; GO:0033700; P:phospholipid efflux; IEA:Ensembl.
DR GO; GO:0055085; P:transmembrane transport; TAS:Reactome.
DR InterPro; IPR003593; AAA+_ATPase.
DR InterPro; IPR026082; ABC_A.
DR InterPro; IPR003439; ABC_transporter-like.
DR InterPro; IPR017871; ABC_transporter_CS.
DR InterPro; IPR027417; P-loop_NTPase.
DR PANTHER; PTHR19229; PTHR19229; 1.
DR Pfam; PF00005; ABC_tran; 2.
DR SMART; SM00382; AAA; 2.
DR SUPFAM; SSF52540; SSF52540; 2.
DR PROSITE; PS00211; ABC_TRANSPORTER_1; 1.
DR PROSITE; PS50893; ABC_TRANSPORTER_2; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; ATP-binding; Cell membrane; Complete proteome;
KW Disulfide bond; Endosome; Glycoprotein; Golgi apparatus; Membrane;
KW Nucleotide-binding; Phagocytosis; Polymorphism; Reference proteome;
KW Repeat; Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1 2146 ATP-binding cassette sub-family A member
FT 7.
FT /FTId=PRO_0000250674.
FT TRANSMEM 22 42 Helical; (Potential).
FT TOPO_DOM 43 549 Extracellular (By similarity).
FT TRANSMEM 550 570 Helical; (Potential).
FT TRANSMEM 593 613 Helical; (Potential).
FT TRANSMEM 626 646 Helical; (Potential).
FT TRANSMEM 655 675 Helical; (Potential).
FT TRANSMEM 687 707 Helical; (Potential).
FT TRANSMEM 727 747 Helical; (Potential).
FT TRANSMEM 849 869 Helical; (Potential).
FT TRANSMEM 1243 1263 Helical; (Potential).
FT TOPO_DOM 1264 1537 Extracellular (By similarity).
FT TRANSMEM 1538 1558 Helical; (Potential).
FT TRANSMEM 1584 1604 Helical; (Potential).
FT TRANSMEM 1621 1641 Helical; (Potential).
FT TRANSMEM 1649 1669 Helical; (Potential).
FT TRANSMEM 1683 1703 Helical; (Potential).
FT TRANSMEM 1729 1749 Helical; (Potential).
FT DOMAIN 807 1038 ABC transporter 1.
FT DOMAIN 1793 2025 ABC transporter 2.
FT NP_BIND 841 848 ATP 1 (Potential).
FT NP_BIND 1827 1834 ATP 2 (Potential).
FT CARBOHYD 312 312 N-linked (GlcNAc...) (Potential).
FT DISULFID 75 225 By similarity.
FT DISULFID 1345 1359 By similarity.
FT VAR_SEQ 1 138 Missing (in isoform 2).
FT /FTId=VSP_020701.
FT VAR_SEQ 139 166 AQPQPTKQSPLEPPMLDVAELLTSLLRT -> MVCLGTGQS
FT AGPLVSVQNHCPPCGLSPQ (in isoform 2).
FT /FTId=VSP_020702.
FT VARIANT 188 188 E -> G (in dbSNP:rs3764645).
FT /FTId=VAR_027581.
FT VARIANT 319 319 T -> A (in dbSNP:rs3752232).
FT /FTId=VAR_027582.
FT VARIANT 395 395 H -> R (in dbSNP:rs3764647).
FT /FTId=VAR_027583.
FT VARIANT 463 463 R -> H (in dbSNP:rs3752233).
FT /FTId=VAR_027584.
FT VARIANT 676 676 A -> T (in dbSNP:rs59851484).
FT /FTId=VAR_060985.
FT VARIANT 718 718 N -> T (in dbSNP:rs3752239).
FT /FTId=VAR_027585.
FT VARIANT 1349 1349 R -> Q (in dbSNP:rs3745842).
FT /FTId=VAR_027586.
FT VARIANT 1527 1527 G -> A (in dbSNP:rs3752246).
FT /FTId=VAR_027587.
FT VARIANT 1686 1686 Q -> R (in dbSNP:rs4147918).
FT /FTId=VAR_027588.
FT VARIANT 2045 2045 A -> S (in dbSNP:rs4147934).
FT /FTId=VAR_027589.
FT CONFLICT 1503 1503 P -> R (in Ref. 1; AAF85794 and 3;
FT BAB62294).
FT CONFLICT 1525 1525 S -> F (in Ref. 1; AAF85794, 2; AAN04657
FT and 3; BAB62294).
SQ SEQUENCE 2146 AA; 234350 MW; 6EA624088E74FEE6 CRC64;
MAFWTQLMLL LWKNFMYRRR QPVQLLVELL WPLFLFFILV AVRHSHPPLE HHECHFPNKP
LPSAGTVPWL QGLICNVNNT CFPQLTPGEE PGRLSNFNDS LVSRLLADAR TVLGGASAHR
TLAGLGKLIA TLRAARSTAQ PQPTKQSPLE PPMLDVAELL TSLLRTESLG LALGQAQEPL
HSLLEAAEDL AQELLALRSL VELRALLQRP RGTSGPLELL SEALCSVRGP SSTVGPSLNW
YEASDLMELV GQEPESALPD SSLSPACSEL IGALDSHPLS RLLWRRLKPL ILGKLLFAPD
TPFTRKLMAQ VNRTFEELTL LRDVREVWEM LGPRIFTFMN DSSNVAMLQR LLQMQDEGRR
QPRPGGRDHM EALRSFLDPG SGGYSWQDAH ADVGHLVGTL GRVTECLSLD KLEAAPSEAA
LVSRALQLLA EHRFWAGVVF LGPEDSSDPT EHPTPDLGPG HVRIKIRMDI DVVTRTNKIR
DRFWDPGPAA DPLTDLRYVW GGFVYLQDLV ERAAVRVLSG ANPRAGLYLQ QMPYPCYVDD
VFLRVLSRSL PLFLTLAWIY SVTLTVKAVV REKETRLRDT MRAMGLSRAV LWLGWFLSCL
GPFLLSAALL VLVLKLGDIL PYSHPGVVFL FLAAFAVATV TQSFLLSAFF SRANLAAACG
GLAYFSLYLP YVLCVAWRDR LPAGGRVAAS LLSPVAFGFG CESLALLEEQ GEGAQWHNVG
TRPTADVFSL AQVSGLLLLD AALYGLATWY LEAVCPGQYG IPEPWNFPFR RSYWCGPRPP
KSPAPCPTPL DPKVLVEEAP PGLSPGVSVR SLEKRFPGSP QPALRGLSLD FYQGHITAFL
GHNGAGKTTT LSILSGLFPP SGGSAFILGH DVRSSMAAIR PHLGVCPQYN VLFDMLTVDE
HVWFYGRLKG LSAAVVGPEQ DRLLQDVGLV SKQSVQTRHL SGGMQRKLSV AIAFVGGSQV
VILDEPTAGV DPASRRGIWE LLLKYREGRT LILSTHHLDE AELLGDRVAV VAGGRLCCCG
SPLFLRRHLG SGYYLTLVKA RLPLTTNEKA DTDMEGSVDT RQEKKNGSQG SRVGTPQLLA
LVQHWVPGAR LVEELPHELV LVLPYTGAHD GSFATLFREL DTRLAELRLT GYGISDTSLE
EIFLKVVEEC AADTDMEDGS CGQHLCTGIA GLDVTLRLKM PPQETALENG EPAGSAPETD
QGSGPDAVGR VQGWALTRQQ LQALLLKRFL LARRSRRGLF AQIVLPALFV GLALVFSLIV
PPFGHYPALR LSPTMYGAQV SFFSEDAPGD PGRARLLEAL LQEAGLEEPP VQHSSHRFSA
PEVPAEVAKV LASGNWTPES PSPACQCSRP GARRLLPDCP AAAGGPPPPQ AVTGSGEVVQ
NLTGRNLSDF LVKTYPRLVR QGLKTKKWVN EVRYGGFSLG GRDPGLPSGQ ELGRSVEELW
ALLSPLPGGA LDRVLKNLTA WAHSLDAQDS LKIWFNNKGW HSMVAFVNRA SNAILRAHLP
PGPARHAHSI TTLNHPLNLT KEQLSEGALM ASSVDVLVSI CVVFAMSFVP ASFTLVLIEE
RVTRAKHLQL MGGLSPTLYW LGNFLWDMCN YLVPACIVVL IFLAFQQRAY VAPANLPALL
LLLLLYGWSI TPLMYPASFF FSVPSTAYVV LTCINLFIGI NGSMATFVLE LFSDQKLQEV
SRILKQVFLI FPHFCLGRGL IDMVRNQAMA DAFERLGDRQ FQSPLRWEVV GKNLLAMVIQ
GPLFLLFTLL LQHRSQLLPQ PRVRSLPLLG EEDEDVARER ERVVQGATQG DVLVLRNLTK
VYRGQRMPAV DRLCLGIPPG ECFGLLGVNG AGKTSTFRMV TGDTLASRGE AVLAGHSVAR
EPSAAHLSMG YCPQSDAIFE LLTGREHLEL LARLRGVPEA QVAQTAGSGL ARLGLSWYAD
RPAGTYSGGN KRKLATALAL VGDPAVVFLD EPTTGMDPSA RRFLWNSLLA VVREGRSVML
TSHSMEECEA LCSRLAIMVN GRFRCLGSPQ HLKGRFAAGH TLTLRVPAAR SQPAAAFVAA
EFPGAELREA HGGRLRFQLP PGGRCALARV FGELAVHGAE HGVEDFSVSQ TMLEEVFLYF
SKDQGKDEDT EEQKEAGVGV DPAPGLQHPK RVSQFLDDPS TAETVL
//
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MIM 605414
*RECORD*
*FIELD* NO
605414
*FIELD* TI
*605414 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 7; ABCA7
;;ABCX;;
SJOGREN SYNDROME ANTIGEN SS-N
read more*FIELD* TX
For background information on the ATP-binding cassette (ABC) family of
transporter proteins, see ABCA4 (601691).

CLONING

By RT-PCR and screening of differentiated monocytes, Kaminski et al.
(2000) obtained a cDNA encoding ABCA7. The deduced 2,146-amino acid
protein contains 2 highly conserved ATP-binding cassettes with Walker A
and B motifs and signature sequences. ABCA7 shares closest homology with
ABC subfamily A members. Northern dot blot analysis demonstrated
predominant expression in myelolymphatic tissues. Flow cytometric
analysis of permeabilized leukocytes revealed greatest expression in
monocytes, followed by granulocytes and lymphocytes.

Broccardo et al. (2001) cloned human and mouse ABCA7 cDNAs and
determined that the deduced proteins share 79% sequence identity.
Northern blot analysis showed that mouse Abca7 is widely expressed both
during embryogenesis and in adult tissues; the highest level of
transcription is detectable in the spleen and hematopoietic tissues. The
same pattern of expression was found in human tissues, with a strong
signal also detected in fetal liver.

Tanaka et al. (2001) observed identity between residues 195 and 352 of
ABCA7 and a Sjogren syndrome autoantigen. They determined that ABCA7
encodes the autoantigen SS-N.

GENE FUNCTION

By RT-PCR and Western blot analysis of differentiated monocytes,
Kaminski et al. (2000) found increased expression of ABCA7 after
addition of low density lipoprotein and decreased expression after
deloading of macrophages with high density lipoprotein. Therefore,
ABCA7, like ABCA1 (600046) and ABCG1 (603076), exhibits a regulatory
response to cholesterol influx and efflux.

GENE STRUCTURE

Kaminski et al. (2000) determined that the ABCA7 gene contains 46 exons
and spans about 32 kb. Analysis of the promoter region revealed binding
sites for transcription factors with roles in hematopoiesis and
cholesterol metabolism. They also determined that the terminal exon of
ABCA7 is separated from the 5-prime end of the coding region of the
minor histocompatibility antigen HA-1 (601155) by about 1.7 kb.

MAPPING

Kaminski et al. (2000) identified ABCA7 in tandem with HA-1, which
shares sequence identity with a BAC clone mapped to chromosome 19p13.3.

By FISH and radiation hybrid analysis, Broccardo et al. (2001) mapped
the human ABCA7 gene to chromosome 19p13.3 and the mouse counterpart to
a region of syntenic homology on chromosome 10.

*FIELD* RF
1. Broccardo, C.; Osorio, J.; Luciani, M.-F.; Schriml, L. M.; Prades,
C.; Shulenin, S.; Arnould, I.; Naudin, L.; Lafargue, C.; Rosier, M.;
Jordan, B.; Mattei, M. G.; Dean, M.; Denefle, P.; Chimini, G.: Comparative
analysis of the promoter structure and genomic organization of the
human and mouse ABCA7 gene encoding a novel ABCA transporter. Cytogenet.
Cell Genet. 92: 264-270, 2001.

2. Kaminski, W. E.; Orso, E.; Diederich, W.; Klucken, J.; Drobnik,
W.; Schmitz, G.: Identification of a novel human sterol-sensitive
ATP-binding cassette transporter (ABCA7). Biochem. Biophys. Res.
Commun. 273: 532-538, 2000.

3. Kaminski, W. E.; Piehler, A.; Schmitz, G.: Genomic organization
of the human cholesterol-responsive ABC transporter ABCA7: tandem
linkage with the minor histocompatibility antigen HA-1 gene. Biochem.
Biophys. Res. Commun. 278: 782-789, 2000.

4. Tanaka, A. R.; Ikeda, Y.; Abe-Dohmae, S.; Arakawa, R.; Sadanami,
K.; Kidera, A.; Nakagawa, S.; Nagase, T.; Aoki, R.; Kioka, N.; Amachi,
T.; Yokoyama, S.; Ueda, K.: Human ABCA1 contains a large amino terminal
extracellular domain homologous to an epitope of Sjogren's syndrome. Biochem.
Biophys. Res. Commun. 283: 1019-1025, 2001.

*FIELD* CN
Patricia A. Hartz - updated: 7/3/2002
Carol A. Bocchini - updated: 8/7/2001

*FIELD* CD
Paul J. Converse: 11/22/2000

*FIELD* ED
alopez: 10/29/2003
carol: 7/3/2002
mcapotos: 8/7/2001
mgross: 11/27/2000
mgross: 11/22/2000

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