LOCUS       NP_061985               2146 aa            linear   PRI 29-APR-2025
DEFINITION  phospholipid-transporting ATPase ABCA7 [Homo sapiens].
ACCESSION   NP_061985
VERSION     NP_061985.2
DBSOURCE    REFSEQ: accession NM_019112.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2146)
  AUTHORS   Tayran,H., Yilmaz,E., Bhattarai,P., Min,Y., Wang,X., Ma,Y.,
            Wang,N., Jeong,I., Nelson,N., Kassara,N., Cosacak,M.I., Dogru,R.M.,
            Reyes-Dumeyer,D., Stenersen,J.M., Reddy,J.S., Qiao,M., Flaherty,D.,
            Gunasekaran,T.I., Yang,Z., Jurisch-Yaksi,N., Teich,A.F.,
            Kanekiyo,T., Tosto,G., Vardarajan,B.N., Is,O., Ertekin-Taner,N.,
            Mayeux,R. and Kizil,C.
  TITLE     ABCA7-dependent induction of neuropeptide Y is required for
            synaptic resilience in Alzheimer's disease through BDNF/NGFR
            signaling
  JOURNAL   Cell Genom 4 (9), 100642 (2024)
   PUBMED   39216475
  REMARK    GeneRIF: ABCA7-dependent induction of neuropeptide Y is required
            for synaptic resilience in Alzheimer's disease through BDNF/NGFR
            signaling.
REFERENCE   2  (residues 1 to 2146)
  AUTHORS   Gialama,V., Siokas,V., Liampas,I., Tsouris,Z., Stamati,P.,
            Aslanidou,P., Provatas,A., Tsimourtou,V., Xiromerisiou,G.,
            Bogdanos,D.P. and Dardiotis,E.
  TITLE     Alzheimer's Disease and Effects of ABCA7 Polymorphisms: A Review
  JOURNAL   J Integr Neurosci 23 (9), 164 (2024)
   PUBMED   39344232
  REMARK    GeneRIF: Alzheimer's Disease and Effects of ABCA7 Polymorphisms: A
            Review.
            Review article
REFERENCE   3  (residues 1 to 2146)
  AUTHORS   Kawatani,K., Holm,M.L., Starling,S.C., Martens,Y.A., Zhao,J.,
            Lu,W., Ren,Y., Li,Z., Jiang,P., Jiang,Y., Baker,S.K., Wang,N.,
            Roy,B., Parsons,T.M., Perkerson,R.B. 3rd, Bao,H., Han,X., Bu,G. and
            Kanekiyo,T.
  TITLE     ABCA7 deficiency causes neuronal dysregulation by altering
            mitochondrial lipid metabolism
  JOURNAL   Mol Psychiatry 29 (3), 809-819 (2024)
   PUBMED   38135757
  REMARK    GeneRIF: ABCA7 deficiency causes neuronal dysregulation by altering
            mitochondrial lipid metabolism.
REFERENCE   4  (residues 1 to 2146)
  AUTHORS   Duchateau,L., Kuukali,F., De Roeck,A., Wittens,M.M.J.,
            Temmerman,J., Weets,I., Timmers,M., Engelborghs,S., Bjerke,M. and
            Sleegers,K.
  TITLE     CSF biomarker analysis of ABCA7 mutation carriers suggests altered
            APP processing and reduced inflammatory response
  JOURNAL   Alzheimers Res Ther 15 (1), 195 (2023)
   PUBMED   37946268
  REMARK    GeneRIF: CSF biomarker analysis of ABCA7 mutation carriers suggests
            altered APP processing and reduced inflammatory response.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 2146)
  AUTHORS   Wiener,J.P., Desire,S., Garliyev,V., Lyssenko Iii,N., Pratico,D.
            and Lyssenko,N.N.
  TITLE     Down-Regulation of ABCA7 in Human Microglia, Astrocyte and THP-1
            Cell Lines by Cholesterol Depletion, IL-1beta and TNFalpha, or PMA
  JOURNAL   Cells 12 (17), 2143 (2023)
   PUBMED   37681876
  REMARK    GeneRIF: Down-Regulation of ABCA7 in Human Microglia, Astrocyte and
            THP-1 Cell Lines by Cholesterol Depletion, IL-1beta and TNFalpha,
            or PMA.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 2146)
  AUTHORS   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. and Ueda,K.
  TITLE     Human ABCA1 contains a large amino-terminal extracellular domain
            homologous to an epitope of Sjogren's Syndrome
  JOURNAL   Biochem Biophys Res Commun 283 (5), 1019-1025 (2001)
   PUBMED   11355874
REFERENCE   7  (residues 1 to 2146)
  AUTHORS   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. and Chimini,G.
  TITLE     Comparative analysis of the promoter structure and genomic
            organization of the human and mouse ABCA7 gene encoding a novel
            ABCA transporter
  JOURNAL   Cytogenet Cell Genet 92 (3-4), 264-270 (2001)
   PUBMED   11435699
REFERENCE   8  (residues 1 to 2146)
  AUTHORS   Kaminski,W.E., Piehler,A. and Schmitz,G.
  TITLE     Genomic organization of the human cholesterol-responsive ABC
            transporter ABCA7: tandem linkage with the minor histocompatibility
            antigen HA-1 gene
  JOURNAL   Biochem Biophys Res Commun 278 (3), 782-789 (2000)
   PUBMED   11095984
REFERENCE   9  (residues 1 to 2146)
  AUTHORS   Niwa,M., Maruyama,H., Fujimoto,T., Dohi,K. and Maruyama,I.N.
  TITLE     Affinity selection of cDNA libraries by lambda phage surface
            display
  JOURNAL   Gene 256 (1-2), 229-236 (2000)
   PUBMED   11054552
REFERENCE   10 (residues 1 to 2146)
  AUTHORS   Kaminski,W.E., Orso,E., Diederich,W., Klucken,J., Drobnik,W. and
            Schmitz,G.
  TITLE     Identification of a novel human sterol-sensitive ATP-binding
            cassette transporter (ABCA7)
  JOURNAL   Biochem Biophys Res Commun 273 (2), 532-538 (2000)
   PUBMED   10873640
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC405492.1, AF250238.1,
            AF328787.1, CD629701.1, AK097344.1 and BU675136.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 3, 2007 this sequence version replaced NP_061985.1.
            
            Summary: The protein encoded by this gene is a member of the
            superfamily of ATP-binding cassette (ABC) transporters. ABC
            proteins transport various molecules across extra- and
            intra-cellular membranes. ABC genes are divided into seven distinct
            subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This
            protein is a member of the ABC1 subfamily. Members of the ABC1
            subfamily comprise the only major ABC subfamily found exclusively
            in multicellular eukaryotes. This full transporter has been
            detected predominantly in myelo-lymphatic tissues with the highest
            expression in peripheral leukocytes, thymus, spleen, and bone
            marrow. The function of this protein is not yet known; however, the
            expression pattern suggests a role in lipid homeostasis in cells of
            the immune system. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: AF328787.1, AF250238.1 [ECO:0000331]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000263094.11/ ENSP00000263094.6
            RefSeq Select criteria    :: based on manual assertion,
                                         conservation, expression, longest
                                         protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2146
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     Protein         1..2146
                     /product="phospholipid-transporting ATPase ABCA7"
                     /EC_number="7.6.2.1"
                     /note="autoantigen SS-N; macrophage ABC transporter;
                     ATP-binding cassette sub-family A member 7; ATP-binding
                     cassette, sub-family A (ABC1), member 7"
                     /calculated_mol_wt=234220
     Region          1..2109
                     /region_name="rim_protein"
                     /note="retinal-specific rim ABC transporter; TIGR01257"
                     /db_xref="CDD:130324"
     Site            22..42
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Site            312
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Site            550..570
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Site            593..613
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Site            626..646
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Site            655..675
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Site            687..707
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Site            727..747
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Site            849..869
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Region          1048..1072
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Region          1185..1209
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Site            1243..1263
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Site            1538..1558
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Site            1584..1604
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Site            1621..1641
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Site            1649..1669
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Site            1683..1703
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Site            1729..1749
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Region          2104..2146
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     CDS             1..2146
                     /gene="ABCA7"
                     /gene_synonym="ABCA-SSN; ABCX; AD9"
                     /coded_by="NM_019112.4:228..6668"
                     /db_xref="CCDS:CCDS12055.1"
                     /db_xref="GeneID:10347"
                     /db_xref="HGNC:HGNC:37"
                     /db_xref="MIM:605414"
ORIGIN      
        1 mafwtqlmll lwknfmyrrr qpvqllvell wplflffilv avrhshpple hhechfpnkp
       61 lpsagtvpwl qglicnvnnt cfpqltpgee pgrlsnfnds lvsrlladar tvlggasahr
      121 tlaglgklia tlraarstaq pqptkqsple ppmldvaell tsllrteslg lalgqaqepl
      181 hslleaaedl aqellalrsl velrallqrp rgtsgplell sealcsvrgp sstvgpslnw
      241 yeasdlmelv gqepesalpd sslspacsel igaldshpls rllwrrlkpl ilgkllfapd
      301 tpftrklmaq vnrtfeeltl lrdvrevwem lgpriftfmn dssnvamlqr llqmqdegrr
      361 qprpggrdhm ealrsfldpg sggyswqdah advghlvgtl grvteclsld kleaapseaa
      421 lvsralqlla ehrfwagvvf lgpedssdpt ehptpdlgpg hvrikirmdi dvvtrtnkir
      481 drfwdpgpaa dpltdlryvw ggfvylqdlv eraavrvlsg anpraglylq qmpypcyvdd
      541 vflrvlsrsl plfltlawiy svtltvkavv reketrlrdt mramglsrav lwlgwflscl
      601 gpfllsaall vlvlklgdil pyshpgvvfl flaafavatv tqsfllsaff sranlaaacg
      661 glayfslylp yvlcvawrdr lpaggrvaas llspvafgfg ceslalleeq gegaqwhnvg
      721 trptadvfsl aqvsglllld aalyglatwy leavcpgqyg ipepwnfpfr rsywcgprpp
      781 kspapcptpl dpkvlveeap pglspgvsvr slekrfpgsp qpalrglsld fyqghitafl
      841 ghngagkttt lsilsglfpp sggsafilgh dvrssmaair phlgvcpqyn vlfdmltvde
      901 hvwfygrlkg lsaavvgpeq drllqdvglv skqsvqtrhl sggmqrklsv aiafvggsqv
      961 vildeptagv dpasrrgiwe lllkyregrt lilsthhlde aellgdrvav vaggrlcccg
     1021 splflrrhlg sgyyltlvka rlplttneka dtdmegsvdt rqekkngsqg srvgtpqlla
     1081 lvqhwvpgar lveelphelv lvlpytgahd gsfatlfrel dtrlaelrlt gygisdtsle
     1141 eiflkvveec aadtdmedgs cgqhlctgia gldvtlrlkm ppqetaleng epagsapetd
     1201 qgsgpdavgr vqgwaltrqq lqalllkrfl larrsrrglf aqivlpalfv glalvfsliv
     1261 ppfghypalr lsptmygaqv sffsedapgd pgrarlleal lqeagleepp vqhsshrfsa
     1321 pevpaevakv lasgnwtpes pspacqcsrp garrllpdcp aaaggppppq avtgsgevvq
     1381 nltgrnlsdf lvktyprlvr qglktkkwvn evryggfslg grdpglpsgq elgrsveelw
     1441 allsplpgga ldrvlknlta wahsldaqds lkiwfnnkgw hsmvafvnra snailrahlp
     1501 pgparhahsi ttlnhplnlt keqlsegalm assvdvlvsi cvvfamsfvp asftlvliee
     1561 rvtrakhlql mgglsptlyw lgnflwdmcn ylvpacivvl iflafqqray vapanlpall
     1621 lllllygwsi tplmypasff fsvpstayvv ltcinlfigi ngsmatfvle lfsdqklqev
     1681 srilkqvfli fphfclgrgl idmvrnqama daferlgdrq fqsplrwevv gknllamviq
     1741 gplfllftll lqhrsqllpq prvrslpllg eededvarer ervvqgatqg dvlvlrnltk
     1801 vyrgqrmpav drlclgippg ecfgllgvng agktstfrmv tgdtlasrge avlaghsvar
     1861 epsaahlsmg ycpqsdaife lltgrehlel larlrgvpea qvaqtagsgl arlglswyad
     1921 rpagtysggn krklatalal vgdpavvfld epttgmdpsa rrflwnslla vvregrsvml
     1981 tshsmeecea lcsrlaimvn grfrclgspq hlkgrfaagh tltlrvpaar sqpaaafvaa
     2041 efpgaelrea hggrlrfqlp pggrcalarv fgelavhgae hgvedfsvsq tmleevflyf
     2101 skdqgkdedt eeqkeagvgv dpapglqhpk rvsqflddps taetvl
//
