LOCUS       NM_003052               2583 bp    mRNA    linear   PRI 24-OCT-2024
DEFINITION  Homo sapiens solute carrier family 34 member 1 (SLC34A1),
            transcript variant 1, mRNA.
ACCESSION   NM_003052 XM_005265973
VERSION     NM_003052.5
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 2583)
  AUTHORS   Sneddon,W.B., Ramineni,S., Van Doorn,G.E., Hepler,J.R. and
            Friedman,P.A.
  TITLE     Distinct and overlapping RGS14 and RGS12 actions regulate
            NPT2A-mediated phosphate transport
  JOURNAL   Biochem Biophys Res Commun 733, 150700 (2024)
   PUBMED   39293332
  REMARK    GeneRIF: Distinct and overlapping RGS14 and RGS12 actions regulate
            NPT2A-mediated phosphate transport.
REFERENCE   2  (bases 1 to 2583)
  AUTHORS   Wang,Q., Chen,J.J., Wei,L.Y., Ding,Y., Liu,M., Li,W.J., Su,C. and
            Gong,C.X.
  TITLE     Biallelic and monoallelic pathogenic variants in CYP24A1 and
            SLC34A1 genes cause idiopathic infantile hypercalcemia
  JOURNAL   Orphanet J Rare Dis 19 (1), 126 (2024)
   PUBMED   38504242
  REMARK    GeneRIF: Biallelic and monoallelic pathogenic variants in CYP24A1
            and SLC34A1 genes cause idiopathic infantile hypercalcemia.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2583)
  AUTHORS   Marini,F., Giusti,F., Marasco,E., Xumerle,L., Kwiatkowska,K.M.,
            Garagnani,P., Biver,E., Ferrari,S., Iolascon,G., Iantomasi,T. and
            Brandi,M.L.
  TITLE     High frequency of heterozygous rare variants of the SLC34A1 and
            SLC9A3R1 genes in patients with atypical femur fracture
  JOURNAL   Eur J Endocrinol 188 (1) (2023)
   PUBMED   36762943
  REMARK    GeneRIF: High frequency of heterozygous rare variants of the
            SLC34A1 and SLC9A3R1 genes in patients with atypical femur
            fracture.
REFERENCE   4  (bases 1 to 2583)
  AUTHORS   Bieri,C., Daryadel,A., Bettoni,C., Pastor-Arroyo,E.M.,
            Schnitzbauer,U., Hernando,N. and Wagner,C.A.
  TITLE     The human pathogenic 91del7 mutation in SLC34A1 has no effect in
            mineral homeostasis in mice
  JOURNAL   Sci Rep 12 (1), 6102 (2022)
   PUBMED   35414099
  REMARK    GeneRIF: The human pathogenic 91del7 mutation in SLC34A1 has no
            effect in mineral homeostasis in mice.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2583)
  AUTHORS   Rousseau-Nepton,I., Jones,G., Schlingmann,K., Kaufmann,M.,
            Zuijdwijk,C.S., Khatchadourian,K., Gupta,I.R., Pacaud,D.,
            Pinsk,M.N., Mokashi,A., Nour,M.A., Alexander,R.T. and Rodd,C.J.
  TITLE     CYP24A1 and SLC34A1 Pathogenic Variants Are Uncommon in a Canadian
            Cohort of Children with Hypercalcemia or Hypercalciuria
  JOURNAL   Horm Res Paediatr 94 (3-4), 124-132 (2021)
   PUBMED   34320495
  REMARK    GeneRIF: CYP24A1 and SLC34A1 Pathogenic Variants Are Uncommon in a
            Canadian Cohort of Children with Hypercalcemia or Hypercalciuria.
REFERENCE   6  (bases 1 to 2583)
  AUTHORS   Taketani,Y., Miyamoto,Ki., Tanaka,K., Katai,K., Chikamori,M.,
            Tatsumi,S., Segawa,H., Yamamoto,H., Morita,K. and Takeda,E.
  TITLE     Gene structure and functional analysis of the human Na+/phosphate
            co-transporter
  JOURNAL   Biochem J 324 (Pt 3) (Pt 3), 927-934 (1997)
   PUBMED   9210418
REFERENCE   7  (bases 1 to 2583)
  AUTHORS   Wagner,C.A., Waldegger,S., Osswald,H., Biber,J., Murer,H.,
            Busch,A.E. and Lang,F.
  TITLE     Heavy metals inhibit Pi-induced currents through human brush-border
            NaPi-3 cotransporter in Xenopus oocytes
  JOURNAL   Am J Physiol 271 (4 Pt 2), F926-F930 (1996)
   PUBMED   8898024
REFERENCE   8  (bases 1 to 2583)
  AUTHORS   Hartmann,C.M., Hewson,A.S., Kos,C.H., Hilfiker,H., Soumounou,Y.,
            Murer,H. and Tenenhouse,H.S.
  TITLE     Structure of murine and human renal type II Na+-phosphate
            cotransporter genes (Npt2 and NPT2)
  JOURNAL   Proc Natl Acad Sci U S A 93 (14), 7409-7414 (1996)
   PUBMED   8693007
REFERENCE   9  (bases 1 to 2583)
  AUTHORS   Kos,C.H., Tihy,F., Econs,M.J., Murer,H., Lemieux,N. and
            Tenenhouse,H.S.
  TITLE     Localization of a renal sodium-phosphate cotransporter gene to
            human chromosome 5q35
  JOURNAL   Genomics 19 (1), 176-177 (1994)
   PUBMED   8188224
REFERENCE   10 (bases 1 to 2583)
  AUTHORS   Magagnin,S., Werner,A., Markovich,D., Sorribas,V., Stange,G.,
            Biber,J. and Murer,H.
  TITLE     Expression cloning of human and rat renal cortex Na/Pi cotransport
  JOURNAL   Proc Natl Acad Sci U S A 90 (13), 5979-5983 (1993)
   PUBMED   8327470
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP275443.1, BC053349.1 and
            BC050385.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_003052.4.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer protein (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 :: BC053349.1, AK096088.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2145774
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000324417.6/ ENSP00000321424.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                BP275443.1         1-10
            11-1884             BC053349.1         1-1874
            1885-2583           BC050385.1         1865-2563
FEATURES             Location/Qualifiers
     source          1..2583
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.3"
     gene            1..2583
                     /gene="SLC34A1"
                     /gene_synonym="FRTS2; HCINF2; NAPI-3; NPHLOP1; NPT2;
                     NPTIIa; SLC11; SLC17A2"
                     /note="solute carrier family 34 member 1"
                     /db_xref="GeneID:6569"
                     /db_xref="HGNC:HGNC:11019"
                     /db_xref="MIM:182309"
     exon            1..54
                     /gene="SLC34A1"
                     /gene_synonym="FRTS2; HCINF2; NAPI-3; NPHLOP1; NPT2;
                     NPTIIa; SLC11; SLC17A2"
                     /inference="alignment:Splign:2.1.0"
     exon            55..210
                     /gene="SLC34A1"
                     /gene_synonym="FRTS2; HCINF2; NAPI-3; NPHLOP1; NPT2;
                     NPTIIa; SLC11; SLC17A2"
                     /inference="alignment:Splign:2.1.0"
     CDS             102..2021
                     /gene="SLC34A1"
                     /gene_synonym="FRTS2; HCINF2; NAPI-3; NPHLOP1; NPT2;
                     NPTIIa; SLC11; SLC17A2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     sodium/phosphate co-transporter; solute carrier family 17
                     (sodium phosphate), member 2; sodium-dependent phosphate
                     transport protein 2A; renal sodium-dependent phosphate
                     transporter; Na+-phosphate cotransporter type II; naPi-2a;
                     sodium/phosphate cotransporter 2A; sodium-phosphate
                     transport protein 2A; Na(+)/Pi cotransporter 2A;
                     Na(+)-dependent phosphate cotransporter 2A; solute carrier
                     family 34 (sodium phosphate), member 1; solute carrier
                     family 34 (type II sodium/phosphate cotransporter), member
                     1"
                     /codon_start=1
                     /product="sodium-dependent phosphate transport protein 2A
                     isoform 1"
                     /protein_id="NP_003043.3"
                     /db_xref="CCDS:CCDS4418.1"
                     /db_xref="GeneID:6569"
                     /db_xref="HGNC:HGNC:11019"
                     /db_xref="MIM:182309"
                     /translation="MLSYGERLGSPAVSPLPVRGGHVMRGTAFAYVPSPQVLHRIPGT
                     SAYAFPSLGPVALAEHTCPCGEVLERHEPLPAKLALEEEQKPESRLVPKLRQAGAMLL
                     KVPLMLTFLYLFVCSLDMLSSAFQLAGGKVAGDIFKDNAILSNPVAGLVVGILVTVLV
                     QSSSTSTSIIVSMVSSGLLEVSSAIPIIMGSNIGTSVTNTIVALMQAGDRTDFRRAFA
                     GATVHDCFNWLSVLVLLPLEAATGYLHHITRLVVASFNIHGGRDAPDLLKIITEPFTK
                     LIIQLDESVITSIATGDESLRNHSLIQIWCHPDSLQAPTSMSRAEANSSQTLGNATME
                     KCNHIFVDTGLPDLAVGLILLAGSLVLLCTCLILLVKMLNSLLKGQVAKVIQKVINTD
                     FPAPFTWVTGYFAMVVGASMTFVVQSSSVFTSAITPLIGLGVISIERAYPLTLGSNIG
                     TTTTAILAALASPREKLSSAFQIALCHFFFNISGILLWYPVPCTRLPIRMAKALGKRT
                     AKYRWFAVLYLLVCFLLLPSLVFGISMAGWQVMVGVGTPFGALLAFVVLINVLQSRSP
                     GHLPKWLQTWDFLPRWMHSLKPLDHLITRATLCCARPEPRSPPLPPRVFLEELPPATP
                     SPRLALPAHHNATRL"
     exon            211..360
                     /gene="SLC34A1"
                     /gene_synonym="FRTS2; HCINF2; NAPI-3; NPHLOP1; NPT2;
                     NPTIIa; SLC11; SLC17A2"
                     /inference="alignment:Splign:2.1.0"
     exon            361..489
                     /gene="SLC34A1"
                     /gene_synonym="FRTS2; HCINF2; NAPI-3; NPHLOP1; NPT2;
                     NPTIIa; SLC11; SLC17A2"
                     /inference="alignment:Splign:2.1.0"
     exon            490..633
                     /gene="SLC34A1"
                     /gene_synonym="FRTS2; HCINF2; NAPI-3; NPHLOP1; NPT2;
                     NPTIIa; SLC11; SLC17A2"
                     /inference="alignment:Splign:2.1.0"
     exon            634..745
                     /gene="SLC34A1"
                     /gene_synonym="FRTS2; HCINF2; NAPI-3; NPHLOP1; NPT2;
                     NPTIIa; SLC11; SLC17A2"
                     /inference="alignment:Splign:2.1.0"
     exon            746..941
                     /gene="SLC34A1"
                     /gene_synonym="FRTS2; HCINF2; NAPI-3; NPHLOP1; NPT2;
                     NPTIIa; SLC11; SLC17A2"
                     /inference="alignment:Splign:2.1.0"
     exon            942..1037
                     /gene="SLC34A1"
                     /gene_synonym="FRTS2; HCINF2; NAPI-3; NPHLOP1; NPT2;
                     NPTIIa; SLC11; SLC17A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1038..1107
                     /gene="SLC34A1"
                     /gene_synonym="FRTS2; HCINF2; NAPI-3; NPHLOP1; NPT2;
                     NPTIIa; SLC11; SLC17A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1108..1275
                     /gene="SLC34A1"
                     /gene_synonym="FRTS2; HCINF2; NAPI-3; NPHLOP1; NPT2;
                     NPTIIa; SLC11; SLC17A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1276..1392
                     /gene="SLC34A1"
                     /gene_synonym="FRTS2; HCINF2; NAPI-3; NPHLOP1; NPT2;
                     NPTIIa; SLC11; SLC17A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1393..1517
                     /gene="SLC34A1"
                     /gene_synonym="FRTS2; HCINF2; NAPI-3; NPHLOP1; NPT2;
                     NPTIIa; SLC11; SLC17A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1518..2583
                     /gene="SLC34A1"
                     /gene_synonym="FRTS2; HCINF2; NAPI-3; NPHLOP1; NPT2;
                     NPTIIa; SLC11; SLC17A2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2564..2569
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC34A1"
                     /gene_synonym="FRTS2; HCINF2; NAPI-3; NPHLOP1; NPT2;
                     NPTIIa; SLC11; SLC17A2"
                     /note="hexamer: ATTAAA"
     polyA_site      2583
                     /gene="SLC34A1"
                     /gene_synonym="FRTS2; HCINF2; NAPI-3; NPHLOP1; NPT2;
                     NPTIIa; SLC11; SLC17A2"
                     /note="major polyA site"
ORIGIN      
        1 gtcctggagg cttcattgag ctgctgagca gaagctgaaa cacagaattc taagcgttgc
       61 tgagacccac tgacctgcag acctcatagt gggtgcccag gatgttgtcc tacggagaga
      121 ggctggggtc ccctgctgtc tccccactcc cagtccgtgg ggggcatgtg atgcgaggga
      181 cggcctttgc ctacgtgccc agccctcagg tcctacacag gatcccgggg acctctgcct
      241 atgccttccc cagcctgggc cctgtggccc ttgctgagca cacctgcccc tgtggggagg
      301 tcctggagcg ccatgaacca ctgcctgcca agctggccct ggaggaggag cagaagccag
      361 agtccaggct ggtccccaag ctgcgccagg ctggcgccat gctgctcaag gtgccactga
      421 tgctcacctt cctctacctc ttcgtctgct ccctggacat gctcagctcg gccttccagc
      481 tggctggagg gaaggtggct ggtgacatct tcaaggataa cgccatcctg tccaacccgg
      541 tggccgggct ggtggtgggg atcctggtga ccgtgctggt gcagagctcc agcacctcca
      601 catccatcat cgtcagcatg gtctcctctg gcttgctgga ggtgagctct gccatcccca
      661 tcatcatggg ctccaacatc ggcacctctg tcaccaacac catcgtggcc ctgatgcagg
      721 cgggggacag gactgacttc cggcgggcct tcgcgggggc cacggtgcat gactgcttta
      781 actggctgtc agtgctggtc ctgctgcccc tggaggctgc cactggctac ctgcaccaca
      841 tcactcgact tgtggtggcc tccttcaaca tccatggtgg ccgtgatgct cctgacctgc
      901 tcaagatcat cacagagccc ttcacgaagc tcatcatcca gctggacgag tctgtgataa
      961 ccagcattgc cactggtgat gagtccctga ggaaccacag tctcatccag atctggtgcc
     1021 acccagactc cttacaggct cccacctcca tgtccagagc agaggccaac tccagccaga
     1081 cccttggaaa tgccaccatg gagaaatgca accacatctt tgtggacact ggcctaccgg
     1141 acctggctgt ggggctcatc ctgctggcag gatccctggt gctgctgtgc acctgcctca
     1201 tcctcctagt caagatgctc aactccctgc tcaagggcca agtggccaag gtcatccaga
     1261 aggtcatcaa tacggacttc cctgccccct tcacctgggt cacaggctac tttgccatgg
     1321 tggtgggcgc cagcatgacc ttcgtggtcc agagcagttc tgtgttcacc tcggccatca
     1381 ccccactcat cggtcttggt gtgatcagca ttgagagggc ctacccgctc acactgggtt
     1441 ccaacatcgg caccaccacc acggccatcc tggctgccct ggccagcccc agggagaagc
     1501 tgtccagcgc tttccagatt gccctctgtc acttcttctt caacatctcg ggtatccttc
     1561 tgtggtaccc ggtgccctgc acacgcctgc ccatccgcat ggccaaggcg ctggggaaac
     1621 gcacggccaa gtaccgctgg tttgccgtcc tctatctcct tgtctgcttc ctgctgctgc
     1681 cctcactggt gtttggcatc tccatggcag gctggcaggt catggtaggt gtgggcacgc
     1741 ccttcggggc cctgctggcc ttcgtggtgc tcatcaatgt cctgcagagt cggagtcccg
     1801 ggcacctgcc caagtggtta cagacatggg acttcctgcc tcgctggatg cactccctga
     1861 agcccctgga ccacctcatc acccgcgcca ccctatgctg tgccaggcct gagccccgct
     1921 cacccccgct gccccccagg gtcttcctgg aggagctacc ccctgccaca ccctcccccc
     1981 gtcttgcact gcctgctcac cacaatgcca cccgcctcta ggctgtgggc ccagactaca
     2041 gcctggaatg gggaaggcct ggggtggaaa ggcaggggag ggagggtgtg tgtaggtatg
     2101 tgcatgtgcc tgtgccaccc tgggtgccag tctctccttc tgtagctccg caaagctctg
     2161 ggcttgtgtg agagtgtcgg tgtgtgtgca tgtgtggggg tgagtctgca tgtgcacctg
     2221 tcatgtgtag aagcttgtat ttgtgtacag gtgtgccagc ccatgcaggt gtacacagac
     2281 acacctgtgg gaggctgtgt gcaggctgca ggatatctgg gtatgatttc aggtcctctg
     2341 cacgtgtaca catgactagg ataggcagga gtaagggtgg gtctgggtat atgactgtgc
     2401 agctgtttgt gcatagatgt tggtgcctgc gttactgaat ttgcacacct ccttgccacc
     2461 ttccttcctc caagatacca tctcctcatc ctaacccagg tcttcggcac caccacaatt
     2521 aattcccttc ccaacacttg cctgatggaa aaaaaacaaa ggaattaaaa ctctcctcag
     2581 gca
//
