LOCUS       NP_001275914            1621 aa            linear   PRI 27-APR-2025
DEFINITION  ABC-type organic anion transporter ABCA8 isoform 1 [Homo sapiens].
ACCESSION   NP_001275914 XP_005256996
VERSION     NP_001275914.1
DBSOURCE    REFSEQ: accession NM_001288985.2
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 1621)
  AUTHORS   Yang,K., Li,X., Jiang,Z., Li,J., Deng,Q., He,J., Chen,J., Li,X.,
            Xu,S. and Jiang,Z.
  TITLE     Tumour suppressor ABCA8 inhibits malignant progression of
            colorectal cancer via Wnt/beta-catenin pathway
  JOURNAL   Dig Liver Dis 56 (5), 880-893 (2024)
   PUBMED   37968146
  REMARK    GeneRIF: Tumour suppressor ABCA8 inhibits malignant progression of
            colorectal cancer via Wnt/beta-catenin pathway.
REFERENCE   2  (residues 1 to 1621)
  AUTHORS   Lv,C., Yang,H., Yu,J. and Dai,X.
  TITLE     ABCA8 inhibits breast cancer cell proliferation by regulating the
            AMP activated protein kinase/mammalian target of rapamycin
            signaling pathway
  JOURNAL   Environ Toxicol 37 (6), 1423-1431 (2022)
   PUBMED   35191604
  REMARK    GeneRIF: ABCA8 inhibits breast cancer cell proliferation by
            regulating the AMP activated protein kinase/mammalian target of
            rapamycin signaling pathway.
REFERENCE   3  (residues 1 to 1621)
  AUTHORS   Guo,Y., Wang,Z.W., Su,W.H., Chen,J. and Wang,Y.L.
  TITLE     Prognostic Value and Immune Infiltrates of ABCA8 and FABP4 in
            Stomach Adenocarcinoma
  JOURNAL   Biomed Res Int 2020, 4145164 (2020)
   PUBMED   32685482
  REMARK    GeneRIF: Prognostic Value and Immune Infiltrates of ABCA8 and FABP4
            in Stomach Adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1621)
  AUTHORS   Cui,Y., Liang,S., Zhang,S., Zhang,C., Zhao,Y., Wu,D., Wang,J.,
            Song,R., Wang,J., Yin,D., Liu,Y., Pan,S., Liu,X., Wang,Y., Han,J.,
            Meng,F., Zhang,B., Guo,H., Lu,Z. and Liu,L.
  TITLE     ABCA8 is regulated by miR-374b-5p and inhibits proliferation and
            metastasis of hepatocellular carcinoma through the ERK/ZEB1 pathway
  JOURNAL   J Exp Clin Cancer Res 39 (1), 90 (2020)
   PUBMED   32430024
  REMARK    GeneRIF: ABCA8 is regulated by miR-374b-5p and inhibits
            proliferation and metastasis of hepatocellular carcinoma through
            the ERK/ZEB1 pathway.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1621)
  AUTHORS   Sasaki,K., Tachikawa,M., Uchida,Y., Hirano,S., Kadowaki,F.,
            Watanabe,M., Ohtsuki,S. and Terasaki,T.
  TITLE     ATP-Binding Cassette Transporter A Subfamily 8 Is a Sinusoidal
            Efflux Transporter for Cholesterol and Taurocholate in Mouse and
            Human Liver
  JOURNAL   Mol Pharm 15 (2), 343-355 (2018)
   PUBMED   29300488
  REMARK    GeneRIF: Study results suggest that mABCA8b/ABCA8 functions as a
            sinusoidal efflux transporter for at least cholesterol and
            taurocholate in mouse and human liver.
REFERENCE   6  (residues 1 to 1621)
  AUTHORS   Kim,W.S., Weickert,C.S. and Garner,B.
  TITLE     Role of ATP-binding cassette transporters in brain lipid transport
            and neurological disease
  JOURNAL   J Neurochem 104 (5), 1145-1166 (2008)
   PUBMED   17973979
  REMARK    Review article
REFERENCE   7  (residues 1 to 1621)
  AUTHORS   Kim,W.S., Guillemin,G.J., Glaros,E.N., Lim,C.K. and Garner,B.
  TITLE     Quantitation of ATP-binding cassette subfamily-A transporter gene
            expression in primary human brain cells
  JOURNAL   Neuroreport 17 (9), 891-896 (2006)
   PUBMED   16738483
REFERENCE   8  (residues 1 to 1621)
  AUTHORS   Tsuruoka,S., Ishibashi,K., Yamamoto,H., Wakaumi,M., Suzuki,M.,
            Schwartz,G.J., Imai,M. and Fujimura,A.
  TITLE     Functional analysis of ABCA8, a new drug transporter
  JOURNAL   Biochem Biophys Res Commun 298 (1), 41-45 (2002)
   PUBMED   12379217
  REMARK    GeneRIF: Functional analysis of the transport properties of ABCA8.
REFERENCE   9  (residues 1 to 1621)
  AUTHORS   Iida,A., Saito,S., Sekine,A., Mishima,C., Kitamura,Y., Kondo,K.,
            Harigae,S., Osawa,S. and Nakamura,Y.
  TITLE     Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13
            genes encoding human ATP-binding cassette transporters: ABCA4,
            ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2,
            ABCG4, ABCG5, and ABCG8
  JOURNAL   J Hum Genet 47 (6), 285-310 (2002)
   PUBMED   12111378
REFERENCE   10 (residues 1 to 1621)
  AUTHORS   Harrington,J.J., Sherf,B., Rundlett,S., Jackson,P.D., Perry,R.,
            Cain,S., Leventhal,C., Thornton,M., Ramachandran,R.,
            Whittington,J., Lerner,L., Costanzo,D., McElligott,K., Boozer,S.,
            Mays,R., Smith,E., Veloso,N., Klika,A., Hess,J., Cothren,K., Lo,K.,
            Offenbacher,J., Danzig,J. and Ducar,M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC024003.1, BC130280.1,
            AB020629.1, AC015844.12 and AW590229.1.
            
            On Jan 9, 2014 this sequence version replaced XP_005256996.1.
            
            Summary: The membrane-associated 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 intracellular 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. The encoded protein may
            regulate lipid metabolism and be involved in the formation and
            maintenance of myelin. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jan 2014].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            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##
            Transcript exon combination :: SRR1660803.231196.1,
                                           SRR1660807.261621.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000586539.6/ ENSP00000467271.1
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1621
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q24.2"
     Protein         1..1621
                     /product="ABC-type organic anion transporter ABCA8 isoform
                     1"
                     /note="ATP-binding cassette, sub-family A (ABC1), member
                     8; ABC-type organic anion transporter ABCA8"
                     /calculated_mol_wt=183546
     Site            30..50
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O94911.4)"
     Site            71
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O94911.4)"
     Site            84
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O94911.4)"
     Site            194
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O94911.4)"
     Site            220..240
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O94911.4)"
     Region          <235..>790
                     /region_name="rim_protein"
                     /note="retinal-specific rim ABC transporter; TIGR01257"
                     /db_xref="CDD:130324"
     Site            243
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O94911.4)"
     Site            268..288
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O94911.4)"
     Site            299..319
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O94911.4)"
     Site            327..347
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O94911.4)"
     Site            359..379
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O94911.4)"
     Site            397..417
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O94911.4)"
     Region          480..703
                     /region_name="ABC_subfamily_A"
                     /note="ATP-binding cassette domain of the lipid
                     transporters, subfamily A; cd03263"
                     /db_xref="CDD:213230"
     Site            484
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O94911.4)"
     Site            516..523
                     /site_type="other"
                     /note="Walker A/P-loop"
                     /db_xref="CDD:213230"
     Site            order(519..520,522..524,565,641..642,673)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:213230"
     Site            555
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O94911.4)"
     Site            562..565
                     /site_type="other"
                     /note="Q-loop/lid"
                     /db_xref="CDD:213230"
     Site            616
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O94911.4)"
     Site            617..626
                     /site_type="other"
                     /note="ABC transporter signature motif"
                     /db_xref="CDD:213230"
     Site            637..642
                     /site_type="other"
                     /note="Walker B"
                     /db_xref="CDD:213230"
     Site            645..648
                     /site_type="other"
                     /note="D-loop"
                     /db_xref="CDD:213230"
     Site            669..675
                     /site_type="other"
                     /note="H-loop/switch region"
                     /db_xref="CDD:213230"
     Site            724
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O94911.4)"
     Site            797
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O94911.4)"
     Site            864..884
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O94911.4)"
     Site            919
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O94911.4)"
     Site            948
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O94911.4)"
     Site            967
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O94911.4)"
     Site            1019..1039
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O94911.4)"
     Region          <1033..1598
                     /region_name="rim_protein"
                     /note="retinal-specific rim ABC transporter; TIGR01257"
                     /db_xref="CDD:130324"
     Site            1070..1090
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O94911.4)"
     Site            1106..1126
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O94911.4)"
     Site            1136..1156
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O94911.4)"
     Site            1161..1181
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O94911.4)"
     Site            1197..1217
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O94911.4)"
     Site            1270
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O94911.4)"
     Region          1285..1506
                     /region_name="ABC_subfamily_A"
                     /note="ATP-binding cassette domain of the lipid
                     transporters, subfamily A; cd03263"
                     /db_xref="CDD:213230"
     Site            1308
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O94911.4)"
     Site            1323..1330
                     /site_type="other"
                     /note="Walker A/P-loop"
                     /db_xref="CDD:213230"
     Site            order(1326..1327,1329..1331,1366,1442..1443,1476)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:213230"
     Site            1363..1366
                     /site_type="other"
                     /note="Q-loop/lid"
                     /db_xref="CDD:213230"
     Site            1373
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O94911.4)"
     Site            1418..1427
                     /site_type="other"
                     /note="ABC transporter signature motif"
                     /db_xref="CDD:213230"
     Site            1435
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O94911.4)"
     Site            1438..1443
                     /site_type="other"
                     /note="Walker B"
                     /db_xref="CDD:213230"
     Site            1446..1449
                     /site_type="other"
                     /note="D-loop"
                     /db_xref="CDD:213230"
     Site            1472..1478
                     /site_type="other"
                     /note="H-loop/switch region"
                     /db_xref="CDD:213230"
     CDS             1..1621
                     /gene="ABCA8"
                     /coded_by="NM_001288985.2:341..5206"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS74139.1"
                     /db_xref="GeneID:10351"
                     /db_xref="HGNC:HGNC:38"
                     /db_xref="MIM:612505"
ORIGIN      
        1 mrkrkisvcq qtwallcknf lkkwrmkres lmewlnslll llclyiyphs hqvndfssll
       61 tmdlgrvdtf nesrfsvvyt pvtnttqqim nkvastpfla gkevlglpde esikeftany
      121 peeivrvtft ntysyhlkfl lghgmpakke hkdhtahcye tnedvycevs vfwkegfval
      181 qaainaaiie ittnhsvmee lmsvtgknmk mhsfigqsgv itdlylfsci isfssfiyya
      241 svnvtrerkr mkalmtmmgl rdsafwlswg llyagfifim alflalvirs tqfiilsgfm
      301 vvfslfllyg lslvalaflm silvkksflt glvvflltvf wgclgftsly rhlpaslewi
      361 lsllspfafm lgmaqllhld ydlnsnafph psdgsnliva tnfmlafdtc lylalaiyfe
      421 kilpneyghr rpplfflkss fwsqtqktdh valedemdad psfhdsfeqa ppefqgkeai
      481 rirnvtkeyk gkpdkiealk dlvfdiyegq itailghsga gkstllnils glsvptkgsv
      541 tiynnklsem adlenlsklt gvcpqsnvqf dfltvrenlr lfakikgilp qevdkeiqrv
      601 llelemkniq dvlaqnlsgg qkrkltfgia ilgdpqifll deptagldpf srhqvwnllk
      661 erktdrvilf stqfmdeadi ladrkvflsq gklkcagssl flkkkwgigy hlslqlneic
      721 veenitslvk qhipdaklsa ksegkliytl plertnkfpe lykdldsypd lgienygvsm
      781 ttlnevflkl egkstinesd iailgevqae kaddterlve meqvlsslnk mrktiggval
      841 wrqqicaiar vrllklkher kallalllil magfcpllve ytmvkiyqns ytwelsphly
      901 flapgqqphd pltqlliink tgasiddfiq svehqniale vdafgtrngt ddpsyngait
      961 vccneknysf slacnakrln cfpvlmdivs ngllgmvkps vhirterstf lengqdnpig
     1021 flayimfwlv ltsscppyia mssiddyknr arsqlrisgl spsaywfgqa lvdvslyflv
     1081 fvfiylmsyi snfedmllti ihiiqipcav gysfslifmt yvisfifrkg rknsgiwsfc
     1141 fyvvtvfsva gfafsifesd ipfiftflip patmigclfl sshllfsslf seermdvqpf
     1201 lvflipflhf iiflftlrcl ewkfgkksmr kdpffrispr ssdvcqnpee pegededvqm
     1261 ervrtanaln stnfdekpvi iasclrkeya gkrkgcfskr knkiatrnvs fcvrkgevlg
     1321 llghngagks tsikvitgdt kptagqvllk gsgggdalef lgycpqenal wpnltvrqhl
     1381 evyaavkglr kgdaevaitr lvdalklqdq lkspvktlse gikrklcfvl silgnpsvvl
     1441 ldepstgmdp egqqqmwqai ratfrnterg alltthymae aeavcdrvai mvsgrlrcig
     1501 siqhlkskfg kdyllemkvk nlaqveplha eilrlfpqaa rqerysslmv yklpvedvqp
     1561 laqaffklek vkqsfdleey slsqstleqv flelskeqel gdfeedfdps vkwkllpqee
     1621 p
//
