LOCUS       NP_001340741            1129 aa            linear   PRI 30-MAR-2025
DEFINITION  phospholipid-transporting ATPase IG isoform e [Homo sapiens].
ACCESSION   NP_001340741 XP_016884933
VERSION     NP_001340741.2
DBSOURCE    REFSEQ: accession NM_001353812.2
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 1129)
  AUTHORS   van Dijk,M.J., van Oirschot,B.A., Harrison,A.N., Recktenwald,S.M.,
            Qiao,M., Stommen,A., Cloos,A.S., Vanderroost,J., Terrasi,R.,
            Dey,K., Bos,J., Rab,M.A.E., Bogdanova,A., Minetti,G.,
            Muccioli,G.G., Tyteca,D., Egee,S., Kaestner,L., Molday,R.S., van
            Beers,E.J. and van Wijk,R.
  TITLE     A novel missense variant in ATP11C is associated with reduced red
            blood cell phosphatidylserine flippase activity and mild hereditary
            hemolytic anemia
  JOURNAL   Am J Hematol 98 (12), 1877-1887 (2023)
   PUBMED   37671681
  REMARK    GeneRIF: A novel missense variant in ATP11C is associated with
            reduced red blood cell phosphatidylserine flippase activity and
            mild hereditary hemolytic anemia.
REFERENCE   2  (residues 1 to 1129)
  AUTHORS   Yabas,M., Bostanci,A. and Aral,S.
  TITLE     ATP11C promotes the differentiation of pre-B cells into immature B
            cells but does not affect their IL-7-dependent proliferation
  JOURNAL   Immunol Res 71 (4), 609-616 (2023)
   PUBMED   36753036
  REMARK    GeneRIF: ATP11C promotes the differentiation of pre-B cells into
            immature B cells but does not affect their IL-7-dependent
            proliferation.
REFERENCE   3  (residues 1 to 1129)
  AUTHORS   Miyata,Y., Yamada,K., Nagata,S. and Segawa,K.
  TITLE     Two types of type IV P-type ATPases independently re-establish the
            asymmetrical distribution of phosphatidylserine in plasma membranes
  JOURNAL   J Biol Chem 298 (11), 102527 (2022)
   PUBMED   36162506
  REMARK    GeneRIF: Two types of type IV P-type ATPases independently
            re-establish the asymmetrical distribution of phosphatidylserine in
            plasma membranes.
REFERENCE   4  (residues 1 to 1129)
  AUTHORS   Pereira-Martins,D.A., Coelho-Silva,J.L., Domingos,I.F.,
            Weinhauser,I., Franca-Neto,P.L., Araujo,A.S., Franca,R.F.,
            Bezerra,M.A. and Lucena-Araujo,A.R.
  TITLE     The ratio of ATP11C/PLSCR1 mRNA transcripts has clinical
            significance in sickle cell anemia
  JOURNAL   Ann Hematol 101 (2), 281-287 (2022)
   PUBMED   34651249
  REMARK    GeneRIF: The ratio of ATP11C/PLSCR1 mRNA transcripts has clinical
            significance in sickle cell anemia.
REFERENCE   5  (residues 1 to 1129)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   6  (residues 1 to 1129)
  AUTHORS   Paulusma,C.C. and Oude Elferink,R.P.
  TITLE     The type 4 subfamily of P-type ATPases, putative aminophospholipid
            translocases with a role in human disease
  JOURNAL   Biochim Biophys Acta 1741 (1-2), 11-24 (2005)
   PUBMED   15919184
  REMARK    Review article
REFERENCE   7  (residues 1 to 1129)
  AUTHORS   Andrew Nesbit,M., Bowl,M.R., Harding,B., Schlessinger,D.,
            Whyte,M.P. and Thakker,R.V.
  TITLE     X-linked hypoparathyroidism region on Xq27 is evolutionarily
            conserved with regions on 3q26 and 13q34 and contains a novel
            P-type ATPase
  JOURNAL   Genomics 84 (6), 1060-1070 (2004)
   PUBMED   15533723
REFERENCE   8  (residues 1 to 1129)
  AUTHORS   Kuhlbrandt,W.
  TITLE     Biology, structure and mechanism of P-type ATPases
  JOURNAL   Nat Rev Mol Cell Biol 5 (4), 282-295 (2004)
   PUBMED   15071553
  REMARK    Review article
REFERENCE   9  (residues 1 to 1129)
  AUTHORS   Halleck,M.S., Lawler,J.F. Jr., Blackshaw,S., Gao,L., Nagarajan,P.,
            Hacker,C., Pyle,S., Newman,J.T., Nakanishi,Y., Ando,H.,
            Weinstock,D., Williamson,P. and Schlegel,R.A.
  TITLE     Differential expression of putative transbilayer amphipath
            transporters
  JOURNAL   Physiol Genomics 1 (3), 139-150 (1999)
   PUBMED   11015572
  REMARK    Publication Status: Online-Only
REFERENCE   10 (residues 1 to 1129)
  AUTHORS   Yokoi,H., Hadano,S., Kogi,M., Kang,X., Wakasa,K. and Ikeda,J.E.
  TITLE     Isolation of expressed sequences encoded by the human Xq terminal
            portion using microclone probes generated by laser microdissection
  JOURNAL   Genomics 20 (3), 404-411 (1994)
   PUBMED   8034313
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL590077.19, AL356785.18 and AL161777.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NP_001340741.1.
            
            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 :: SRR14038197.295519.1,
                                           SRR18074967.44744.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000682941.1/ ENSP00000507250.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1129
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq27.1"
     Protein         1..1129
                     /product="phospholipid-transporting ATPase IG isoform e"
                     /EC_number="7.6.2.1"
                     /note="probable phospholipid-transporting ATPase IG;
                     P4-ATPase flippase complex alpha subunit ATP11C; ATPase,
                     class VI, type 11C"
                     /calculated_mol_wt=129287
     Region          42..974
                     /region_name="P-type_ATPase_APLT_Dnf-like"
                     /note="Aminophospholipid translocases (APLTs), similar to
                     Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2,
                     -10D, -11B, -11C; cd02073"
                     /db_xref="CDD:319770"
     Site            order(409..411,540,563..565,627,674..676,789,792,795,816,
                     819)
                     /site_type="other"
                     /note="putative ATP binding site [chemical binding]"
                     /db_xref="CDD:319770"
     Region          862..1089
                     /region_name="PhoLip_ATPase_C"
                     /note="Phospholipid-translocating P-type ATPase
                     C-terminal; pfam16212"
                     /db_xref="CDD:465071"
     CDS             1..1129
                     /gene="ATP11C"
                     /gene_synonym="ATPIG; ATPIQ; HACXL"
                     /coded_by="NM_001353812.2:1012..4401"
                     /note="isoform e is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS94677.1"
                     /db_xref="GeneID:286410"
                     /db_xref="HGNC:HGNC:13554"
                     /db_xref="MIM:300516"
ORIGIN      
        1 mfrrslnrfc ageekrvgtr tvfvgnhpvs eteayiaqrf cdnrivssky tlwnflpknl
       61 feqfrrianf yfliiflvqv tvdtptspvt sglplffvit vtaikqgyed clrhradnev
      121 nkstvyiien akrvrkesek ikvgdvvevq adetfpcdli llsscttdgt cyvttasldg
      181 esnckthyav rdtialctae sidtlraaie ceqpqpdlyk fvgriniysn sleavarslg
      241 penlllkgat lkntekiygv avytgmetkm alnyqgksqk rsaveksina flivylfill
      301 tkaavcttlk yvwqstpynd epwynqktqk eretlkvlkm ftdflsfmvl fnfiipvsmy
      361 vtvemqkflg sffiswdkdf ydeeinegal vntsdlneel gqvdyvftdk tgtltensme
      421 fieccidghk ykgvtqevdg lsqtdgtlty fdkvdknree lflralclch tveiktndav
      481 dgatesaelt yissspdeia lvkgakrygf tflgnrngym rvenqrkeie eyellhtlnf
      541 davrrrmsvi vktqegdill fckgadsavf prvqnheiel tkvhvernam dgyrtlcvaf
      601 keiapddyer inrqlieakm alqdreekme kvfddietnm nligataved klqdqaaeti
      661 ealhaaglkv wvltgdkmet akstcyacrl fqtntellel ttktieeser kedrlhelli
      721 eyrkkllhef pkstrsfkka wtehqeygli idgstlslil nssqdsssnn yksiflqicm
      781 kctavlccrm aplqkaqivr mvknlkgspi tlsigdgand vsmileshvg igikgkegrq
      841 aarnsdysvp kfkhlkklll ahghlyyvri ahlvqyffyk nlcfilpqfl yqffcgfsqq
      901 plydaayltm ynicftslpi layslleqhi nidtltsdpr lymkisgnam lqlgpflywt
      961 flaafegtvf ffgtyflfqt asleengkvy gnwtfgtivf tvlvftvtlk laldtrfwtw
     1021 inhfviwgsl afyvffsffw ggiiwpflkq qrmyfvfaqm lssvstwlai illifislfp
     1081 eillivlknv rrrsarrnls crrasdslsa rpsvrplllr tfsdesnvl
//
