LOCUS       NM_005765               2242 bp    mRNA    linear   PRI 13-NOV-2024
DEFINITION  Homo sapiens ATPase H+ transporting accessory protein 2 (ATP6AP2),
            mRNA.
ACCESSION   NM_005765
VERSION     NM_005765.3
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  (bases 1 to 2242)
  AUTHORS   Oot,R.A. and Wilkens,S.
  TITLE     Human V-ATPase function is positively and negatively regulated by
            TLDc proteins
  JOURNAL   Structure 32 (7), 989-1000 (2024)
   PUBMED   38593795
  REMARK    GeneRIF: Human V-ATPase function is positively and negatively
            regulated by TLDc proteins.
REFERENCE   2  (bases 1 to 2242)
  AUTHORS   Ouyang,X. and Xu,C.
  TITLE     Targeting the (pro)renin receptor in cancers: from signaling to
            pathophysiological effects
  JOURNAL   J Cancer Res Clin Oncol 149 (6), 2595-2605 (2023)
   PUBMED   36153775
  REMARK    GeneRIF: Targeting the (pro)renin receptor in cancers: from
            signaling to pathophysiological effects.
            Review article
REFERENCE   3  (bases 1 to 2242)
  AUTHORS   Edelman,W.C., Kiianitsa,K., Virmani,T., Martinez,R.A., Young,J.E.,
            Keene,C.D., Bird,T.D., Raskind,W.H. and Korvatska,O.
  TITLE     Reduced gene dosage is a common mechanism of neuropathologies
            caused by ATP6AP2 splicing mutations
  JOURNAL   Parkinsonism Relat Disord 101, 31-38 (2022)
   PUBMED   35779466
  REMARK    GeneRIF: Reduced gene dosage is a common mechanism of
            neuropathologies caused by ATP6AP2 splicing mutations.
REFERENCE   4  (bases 1 to 2242)
  AUTHORS   Martin,J.H., Mohammed,R., Delforce,S.J., Skerrett-Byrne,D.A., de
            Meaultsart,C.C., Almazi,J.G., Stephens,A.N., Verrills,N.M.,
            Dimitriadis,E., Wang,Y., Lumbers,E.R. and Pringle,K.G.
  TITLE     Role of the prorenin receptor in endometrial cancer cell growth
  JOURNAL   Oncotarget 13, 587-599 (2022)
   PUBMED   35401936
  REMARK    GeneRIF: Role of the prorenin receptor in endometrial cancer cell
            growth.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2242)
  AUTHORS   Lara,L.S., Gonzalez,A.A., Hennrikus,M.T. and Prieto,M.C.
  TITLE     Hormone-Dependent Regulation of Renin and Effects on Prorenin
            Receptor Signaling in the Collecting Duct
  JOURNAL   Curr Hypertens Rev 18 (2), 91-100 (2022)
   PUBMED   35170417
  REMARK    GeneRIF: Hormone-Dependent Regulation of Renin and Effects on
            Prorenin Receptor Signaling in the Collecting Duct.
REFERENCE   6  (bases 1 to 2242)
  AUTHORS   Nguyen,G., Delarue,F., Burckle,C., Bouzhir,L., Giller,T. and
            Sraer,J.D.
  TITLE     Pivotal role of the renin/prorenin receptor in angiotensin II
            production and cellular responses to renin
  JOURNAL   J Clin Invest 109 (11), 1417-1427 (2002)
   PUBMED   12045255
  REMARK    GeneRIF: expression cloning of the human renin receptor
            complementary DNA encoding a 350-amino acid protein with a single
            transmembrane domain and no homology with any known membrane
            protein
REFERENCE   7  (bases 1 to 2242)
  AUTHORS   Hedera,P., Alvarado,D., Beydoun,A. and Fink,J.K.
  TITLE     Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4
  JOURNAL   Ann Neurol 51 (1), 45-50 (2002)
   PUBMED   11782983
REFERENCE   8  (bases 1 to 2242)
  AUTHORS   Demirci,F.Y., White,N.J., Rigatti,B.W., Lewis,K.F. and Gorin,M.B.
  TITLE     Identification, genomic structure, and screening of the vacuolar
            proton-ATPase membrane sector-associated protein M8-9 gene within
            the COD1 critical region (Xp11.4)
  JOURNAL   Mol Vis 7, 234-239 (2001)
   PUBMED   11590366
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 2242)
  AUTHORS   Hu,R.M., Han,Z.G., Song,H.D., Peng,Y.D., Huang,Q.H., Ren,S.X.,
            Gu,Y.J., Huang,C.H., Li,Y.B., Jiang,C.L., Fu,G., Zhang,Q.H.,
            Gu,B.W., Dai,M., Mao,Y.F., Gao,G.F., Rong,R., Ye,M., Zhou,J.,
            Xu,S.H., Gu,J., Shi,J.X., Jin,W.R., Zhang,C.K., Wu,T.M.,
            Huang,G.Y., Chen,Z., Chen,M.D. and Chen,J.L.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
REFERENCE   10 (bases 1 to 2242)
  AUTHORS   Ludwig,J., Kerscher,S., Brandt,U., Pfeiffer,K., Getlawi,F.,
            Apps,D.K. and Schagger,H.
  TITLE     Identification and characterization of a novel 9.2-kDa membrane
            sector-associated protein of vacuolar proton-ATPase from chromaffin
            granules
  JOURNAL   J Biol Chem 273 (18), 10939-10947 (1998)
   PUBMED   9556572
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092473.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_005765.2.
            
            Summary: This gene encodes a protein that is associated with
            adenosine triphosphatases (ATPases). Proton-translocating ATPases
            have fundamental roles in energy conservation, secondary active
            transport, acidification of intracellular compartments, and
            cellular pH homeostasis. There are three classes of ATPases- F, P,
            and V. The vacuolar (V-type) ATPases have a transmembrane
            proton-conducting sector and an extramembrane catalytic sector. The
            encoded protein has been found associated with the transmembrane
            sector of the V-type ATPases. [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##
            Transcript exon combination :: SRR1660809.75728.1,
                                           SRR1660805.51821.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000636580.2/ ENSP00000490083.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-133               AC092473.4         87859-87991
            134-264             AC092473.4         95875-96005
            265-396             AC092473.4         98123-98254
            397-492             AC092473.4         104138-104233
            493-630             AC092473.4         104416-104553
            631-684             AC092473.4         105570-105623
            685-834             AC092473.4         106481-106630
            835-954             AC092473.4         107651-107770
            955-2242            AC092473.4         112450-113737
FEATURES             Location/Qualifiers
     source          1..2242
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.4"
     gene            1..2242
                     /gene="ATP6AP2"
                     /gene_synonym="(P)RR; APT6M8-9; ATP6IP2; ATP6M8-9; CDG2R;
                     ELDF10; HT028; M8-9; MRXE; MRXSH; MSTP009; PRR; RENR;
                     XMRE; XPDS"
                     /note="ATPase H+ transporting accessory protein 2"
                     /db_xref="GeneID:10159"
                     /db_xref="HGNC:HGNC:18305"
                     /db_xref="MIM:300556"
     exon            1..133
                     /gene="ATP6AP2"
                     /gene_synonym="(P)RR; APT6M8-9; ATP6IP2; ATP6M8-9; CDG2R;
                     ELDF10; HT028; M8-9; MRXE; MRXSH; MSTP009; PRR; RENR;
                     XMRE; XPDS"
                     /inference="alignment:Splign:2.1.0"
     CDS             97..1149
                     /gene="ATP6AP2"
                     /gene_synonym="(P)RR; APT6M8-9; ATP6IP2; ATP6M8-9; CDG2R;
                     ELDF10; HT028; M8-9; MRXE; MRXSH; MSTP009; PRR; RENR;
                     XMRE; XPDS"
                     /note="ATPase, H+ transporting, lysosomal interacting
                     protein 2; ATPase, H+ transporting, lysosomal (vacuolar
                     proton pump) membrane sector associated protein M8-9;
                     V-ATPase M8.9 subunit; renin receptor; embryonic liver
                     differentiation factor 10; vacuolar proton ATP synthase
                     membrane sector associated protein M8-9; N14F;
                     renin/prorenin receptor; ATPase, H+ transporting,
                     lysosomal accessory protein 2; ER-localized type I
                     transmembrane adaptor; ATPase H(+)-transporting
                     lysosomal-interacting protein 2; ER-localized type I
                     transmembrane adapter; vacuolar ATP synthase membrane
                     sector-associated protein M8-9"
                     /codon_start=1
                     /product="renin receptor precursor"
                     /protein_id="NP_005756.2"
                     /db_xref="CCDS:CCDS14252.1"
                     /db_xref="GeneID:10159"
                     /db_xref="HGNC:HGNC:18305"
                     /db_xref="MIM:300556"
                     /translation="MAVFVVLLALVAGVLGNEFSILKSPGSVVFRNGNWPIPGERIPD
                     VAALSMGFSVKEDLSWPGLAVGNLFHRPRATVMVMVKGVNKLALPPGSVISYPLENAV
                     PFSLDSVANSIHSLFSEETPVVLQLAPSEERVYMVGKANSVFEDLSVTLRQLRNRLFQ
                     ENSVLSSLPLNSLSRNNEVDLLFLSELQVLHDISSLLSRHKHLAKDHSPDLYSLELAG
                     LDEIGKRYGEDSEQFRDASKILVDALQKFADDMYSLYGGNAVVELVTVKSFDTSLIRK
                     TRTILEAKQAKNPASPYNLAYKYNFEYSVVFNMVLWIMIALALAVIITSYNIWNMDPG
                     YDSIIYRMTNQKIRMD"
     exon            134..264
                     /gene="ATP6AP2"
                     /gene_synonym="(P)RR; APT6M8-9; ATP6IP2; ATP6M8-9; CDG2R;
                     ELDF10; HT028; M8-9; MRXE; MRXSH; MSTP009; PRR; RENR;
                     XMRE; XPDS"
                     /inference="alignment:Splign:2.1.0"
     exon            265..396
                     /gene="ATP6AP2"
                     /gene_synonym="(P)RR; APT6M8-9; ATP6IP2; ATP6M8-9; CDG2R;
                     ELDF10; HT028; M8-9; MRXE; MRXSH; MSTP009; PRR; RENR;
                     XMRE; XPDS"
                     /inference="alignment:Splign:2.1.0"
     exon            397..492
                     /gene="ATP6AP2"
                     /gene_synonym="(P)RR; APT6M8-9; ATP6IP2; ATP6M8-9; CDG2R;
                     ELDF10; HT028; M8-9; MRXE; MRXSH; MSTP009; PRR; RENR;
                     XMRE; XPDS"
                     /inference="alignment:Splign:2.1.0"
     exon            493..630
                     /gene="ATP6AP2"
                     /gene_synonym="(P)RR; APT6M8-9; ATP6IP2; ATP6M8-9; CDG2R;
                     ELDF10; HT028; M8-9; MRXE; MRXSH; MSTP009; PRR; RENR;
                     XMRE; XPDS"
                     /inference="alignment:Splign:2.1.0"
     exon            631..684
                     /gene="ATP6AP2"
                     /gene_synonym="(P)RR; APT6M8-9; ATP6IP2; ATP6M8-9; CDG2R;
                     ELDF10; HT028; M8-9; MRXE; MRXSH; MSTP009; PRR; RENR;
                     XMRE; XPDS"
                     /inference="alignment:Splign:2.1.0"
     exon            685..834
                     /gene="ATP6AP2"
                     /gene_synonym="(P)RR; APT6M8-9; ATP6IP2; ATP6M8-9; CDG2R;
                     ELDF10; HT028; M8-9; MRXE; MRXSH; MSTP009; PRR; RENR;
                     XMRE; XPDS"
                     /inference="alignment:Splign:2.1.0"
     exon            835..954
                     /gene="ATP6AP2"
                     /gene_synonym="(P)RR; APT6M8-9; ATP6IP2; ATP6M8-9; CDG2R;
                     ELDF10; HT028; M8-9; MRXE; MRXSH; MSTP009; PRR; RENR;
                     XMRE; XPDS"
                     /inference="alignment:Splign:2.1.0"
     exon            955..2242
                     /gene="ATP6AP2"
                     /gene_synonym="(P)RR; APT6M8-9; ATP6IP2; ATP6M8-9; CDG2R;
                     ELDF10; HT028; M8-9; MRXE; MRXSH; MSTP009; PRR; RENR;
                     XMRE; XPDS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2008..2013
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP6AP2"
                     /gene_synonym="(P)RR; APT6M8-9; ATP6IP2; ATP6M8-9; CDG2R;
                     ELDF10; HT028; M8-9; MRXE; MRXSH; MSTP009; PRR; RENR;
                     XMRE; XPDS"
                     /note="hexamer: AATAAA"
     polyA_site      2031
                     /gene="ATP6AP2"
                     /gene_synonym="(P)RR; APT6M8-9; ATP6IP2; ATP6M8-9; CDG2R;
                     ELDF10; HT028; M8-9; MRXE; MRXSH; MSTP009; PRR; RENR;
                     XMRE; XPDS"
                     /note="major polyA site"
ORIGIN      
        1 gagtccgagc gcgtcacctc ctcacgctgc ggctgtcgcc cgtgtcccgc cggcccgttc
       61 cgtgtcgccc cgcagtgctg cggccgccgc ggcaccatgg ctgtgtttgt cgtgctcctg
      121 gcgttggtgg cgggtgtttt ggggaacgag tttagtatat taaaatcacc agggtctgtt
      181 gttttccgaa atggaaattg gcctatacca ggagagcgga tcccagacgt ggctgcattg
      241 tccatgggct tctctgtgaa agaagacctt tcttggccag gactcgcagt gggtaacctg
      301 tttcatcgtc ctcgggctac cgtcatggtg atggtgaagg gagtgaacaa actggctcta
      361 cccccaggca gtgtcatttc gtaccctttg gagaatgcag ttccttttag tcttgacagt
      421 gttgcaaatt ccattcactc cttattttct gaggaaactc ctgttgtttt gcagttggct
      481 cccagtgagg aaagagtgta tatggtaggg aaggcaaact cagtgtttga agacctttca
      541 gtcaccttgc gccagctccg taatcgcctg tttcaagaaa actctgttct cagttcactc
      601 cccctcaatt ctctgagtag gaacaatgaa gttgacctgc tctttctttc tgaactgcaa
      661 gtgctacatg atatttcaag cttgctgtct cgtcataagc atctagccaa ggatcattct
      721 cctgatttat attcactgga gctggcaggt ttggatgaaa ttgggaagcg ttatggggaa
      781 gactctgaac aattcagaga tgcttctaag atccttgttg acgctctgca aaagtttgca
      841 gatgacatgt acagtcttta tggtgggaat gcagtggtag agttagtcac tgtcaagtca
      901 tttgacacct ccctcattag gaagacaagg actatccttg aggcaaaaca agcgaagaac
      961 ccagcaagtc cctataacct tgcatataag tataattttg aatattccgt ggttttcaac
     1021 atggtacttt ggataatgat cgccttggcc ttggctgtga ttatcacctc ttacaatatt
     1081 tggaacatgg atcctggata tgatagcatc atttatagga tgacaaacca gaagattcga
     1141 atggattgaa tgttacctgt gccagaatta gaaaaggggg ttggaaattg gctgttttgt
     1201 taaaatatat cttttagtgt gctttaaagt agatagtata ctttacattt ataaaaaaaa
     1261 atcaaatttt gttctttatt ttgtgtgtgc ctgtgatgtt tttctagagt gaattatagt
     1321 attgacgtga atcccactgt ggtatagatt ccataatatg cttgaatatt atgatatagc
     1381 catttaataa cattgatttc attctgttta atgaatttgg aaatatgcac tgaaagaaat
     1441 gtaaaacatt tagaatagct cgtgttatgg aaaaaagtgc actgaattta ttagacaaac
     1501 ttacgaatgc ttaacttctt tacacagcat aggtgaaaat catatttggg ctattgtata
     1561 ctatgaacaa tttgtaaatg tcttaatttg atgtaaataa ctctgaaaca agagaaaagg
     1621 tttttaactt agagtagccc taaaatatgg atgtgcttat ataatcgctt agttttggaa
     1681 ctgtatctga gtaacagagg acagctgttt tttaaccctc ttctgcaagt ttgttgacct
     1741 acatgggcta atatggatac taaaaatact acattgatct aagaagaaac tagccttgtg
     1801 gagtatatag atgcttttca ttatacacac aaaaatccct gagggacatt ttgaggcatg
     1861 aatataaaac atttttattt cagtaacttt tccccctgtg taagttacta tggtttgtgg
     1921 tacaacttca ttctatagaa tattaagtgg aagtgggtga attctacttt ttatgttgga
     1981 gtggaccaat gtctatcaag agtgacaaat aaagttaatg atgattccaa atttgtgtca
     2041 ttgcagtact aaatctattt tatattgtaa aaacctaaca aaacaggctt ttctttcatc
     2101 aggattggct gttttgttgt acagataatt tcatggtgtt tcttttacac ttgtttattc
     2161 tcgctgcctc ctgagattta gtactaatgt aaggaaggca ttttaattac cattcttgtt
     2221 actgaattta tataggatat at
//
