LOCUS       NM_001128431            4663 bp    mRNA    linear   PRI 07-OCT-2024
DEFINITION  Homo sapiens solute carrier family 39 member 14 (SLC39A14),
            transcript variant 1, mRNA.
ACCESSION   NM_001128431
VERSION     NM_001128431.4
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  (bases 1 to 4663)
  AUTHORS   Rodichkin,A.N. and Guilarte,T.R.
  TITLE     Hereditary Disorders of Manganese Metabolism: Pathophysiology of
            Childhood-Onset Dystonia-Parkinsonism in SLC39A14 Mutation Carriers
            and Genetic Animal Models
  JOURNAL   Int J Mol Sci 23 (21), 12833 (2022)
   PUBMED   36361624
  REMARK    GeneRIF: Hereditary Disorders of Manganese Metabolism:
            Pathophysiology of Childhood-Onset Dystonia-Parkinsonism in
            SLC39A14 Mutation Carriers and Genetic Animal Models.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4663)
  AUTHORS   Feng,J.F., Yang,W.Y., Wang,Y.D., Xie,G., Xu,B., Dai,C.M., Zhang,B.,
            Li,X.H., Wang,J. and Yang,Y.W.
  TITLE     Circ_000829 Plays an Anticancer Role in Renal Cell Carcinoma by
            Suppressing SRSF1-Mediated Alternative Splicing of SLC39A14
  JOURNAL   Oxid Med Cell Longev 2022, 8645830 (2022)
   PUBMED   36062189
  REMARK    GeneRIF: Circ_000829 Plays an Anticancer Role in Renal Cell
            Carcinoma by Suppressing SRSF1-Mediated Alternative Splicing of
            SLC39A14.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4663)
  AUTHORS   Steimle,B.L., Bailey,D.K., Smith,F.M., Rosenblum,S.L. and
            Kosman,D.J.
  TITLE     Calcium and the Ca-ATPase SPCA1 modulate plasma membrane abundance
            of ZIP8 and ZIP14 to regulate Mn(II) uptake in brain microvascular
            endothelial cells
  JOURNAL   J Biol Chem 298 (8), 102211 (2022)
   PUBMED   35787370
  REMARK    GeneRIF: Calcium and the Ca-ATPase SPCA1 modulate plasma membrane
            abundance of ZIP8 and ZIP14 to regulate Mn(II) uptake in brain
            microvascular endothelial cells.
REFERENCE   4  (bases 1 to 4663)
  AUTHORS   Clayton,P.T.
  TITLE     Inherited disorders of transition metal metabolism: an update
  JOURNAL   J Inherit Metab Dis 40 (4), 519-529 (2017)
   PUBMED   28303424
  REMARK    Review article
REFERENCE   5  (bases 1 to 4663)
  AUTHORS   Guo,S., Frazer,D.M. and Anderson,G.J.
  TITLE     Iron homeostasis: transport, metabolism, and regulation
  JOURNAL   Curr Opin Clin Nutr Metab Care 19 (4), 276-281 (2016)
   PUBMED   27137899
  REMARK    Review article
REFERENCE   6  (bases 1 to 4663)
  AUTHORS   Chen,P., Chakraborty,S., Mukhopadhyay,S., Lee,E., Paoliello,M.M.,
            Bowman,A.B. and Aschner,M.
  TITLE     Manganese homeostasis in the nervous system
  JOURNAL   J Neurochem 134 (4), 601-610 (2015)
   PUBMED   25982296
  REMARK    Review article
REFERENCE   7  (bases 1 to 4663)
  AUTHORS   Liuzzi,J.P., Lichten,L.A., Rivera,S., Blanchard,R.K., Aydemir,T.B.,
            Knutson,M.D., Ganz,T. and Cousins,R.J.
  TITLE     Interleukin-6 regulates the zinc transporter Zip14 in liver and
            contributes to the hypozincemia of the acute-phase response
  JOURNAL   Proc Natl Acad Sci U S A 102 (19), 6843-6848 (2005)
   PUBMED   15863613
  REMARK    GeneRIF: Zip14 expression is up-regulated through IL-6
REFERENCE   8  (bases 1 to 4663)
  AUTHORS   Taylor,K.M., Morgan,H.E., Johnson,A. and Nicholson,R.I.
  TITLE     Structure-function analysis of a novel member of the LIV-1
            subfamily of zinc transporters, ZIP14
  JOURNAL   FEBS Lett 579 (2), 427-432 (2005)
   PUBMED   15642354
  REMARK    GeneRIF: ZIP14 (SLC39A14)was shown to function as a zinc influx
            transporter in a temperature-dependant manner.
REFERENCE   9  (bases 1 to 4663)
  AUTHORS   Taylor,K.M. and Nicholson,R.I.
  TITLE     The LZT proteins; the LIV-1 subfamily of zinc transporters
  JOURNAL   Biochim Biophys Acta 1611 (1-2), 16-30 (2003)
   PUBMED   12659941
  REMARK    Review article
REFERENCE   10 (bases 1 to 4663)
  AUTHORS   Tuschl,K., Gregory,A., Meyer,E., Clayton,P.T., Hayflick,S.J.,
            Mills,P.B. and Kurian,M.A.
  TITLE     SLC39A14 Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   28541650
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC323208.1, D31887.1,
            AK172810.1 and AA181885.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001128431.3.
            
            Summary: This gene encodes a member of the the SLC39A family of
            divalent metal transporters that mediates the cellular uptake of
            manganese, zinc, iron, and cadmium. The encoded protein contains
            eight transmembrane domains, a histidine-rich motif, and a
            metalloprotease motif, and is expressed on the plasma membrane and
            the endocytic vesicle membrane. It is an important transporter of
            nontransferrin-bound iron and a critical regulator of manganese
            homeostasis. Naturally occurring mutations in this gene are
            associated with neurodegeneration with brain iron accumulation and
            early-onset parkinsonism-dystonia with hypermanganesemia. [provided
            by RefSeq, May 2017].
            
            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 :: SRR1660807.105385.1,
                                           SRR1660803.143330.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000381237.6/ ENSP00000370635.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-527               DC323208.1         30-556
            528-1186            D31887.1           501-1159
            1187-1284           AK172810.1         1187-1284
            1285-3194           D31887.1           1258-3167
            3195-4612           AK172810.1         3194-4611
            4613-4663           AA181885.1         8-58                c
FEATURES             Location/Qualifiers
     source          1..4663
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.3"
     gene            1..4663
                     /gene="SLC39A14"
                     /gene_synonym="cig19; HCIN; HMNDYT2; LZT-Hs4; NET34;
                     ZIP14"
                     /note="solute carrier family 39 member 14"
                     /db_xref="GeneID:23516"
                     /db_xref="HGNC:HGNC:20858"
                     /db_xref="MIM:608736"
     exon            1..131
                     /gene="SLC39A14"
                     /gene_synonym="cig19; HCIN; HMNDYT2; LZT-Hs4; NET34;
                     ZIP14"
                     /inference="alignment:Splign:2.1.0"
     exon            132..416
                     /gene="SLC39A14"
                     /gene_synonym="cig19; HCIN; HMNDYT2; LZT-Hs4; NET34;
                     ZIP14"
                     /inference="alignment:Splign:2.1.0"
     CDS             147..1625
                     /gene="SLC39A14"
                     /gene_synonym="cig19; HCIN; HMNDYT2; LZT-Hs4; NET34;
                     ZIP14"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; Zrt-, Irt-like protein 14; zinc transporter 14;
                     solute carrier family 39 (metal ion transporter), member
                     14; Zinc transporter ZIP14; LIV-1 subfamily of ZIP zinc
                     transporter 4; zrt- and Irt-like protein 14; solute
                     carrier family 39 (zinc transporter), member 14; metal
                     cation symporter ZIP14"
                     /codon_start=1
                     /product="metal cation symporter ZIP14 isoform a
                     precursor"
                     /protein_id="NP_001121903.1"
                     /db_xref="CCDS:CCDS47823.1"
                     /db_xref="GeneID:23516"
                     /db_xref="HGNC:HGNC:20858"
                     /db_xref="MIM:608736"
                     /translation="MKLLLLHPAFQSCLLLTLLGLWRTTPEAHASSLGAPAISAASFL
                     QDLIHRYGEGDSLTLQQLKALLNHLDVGVGRGNVTQHVQGHRNLSTCFSSGDLFTAHN
                     FSEQSRIGSSELQEFCPTILQQLDSRACTSENQENEENEQTEEGRPSAVEVWGYGLLC
                     VTVISLCSLLGASVVPFMKKTFYKRLLLYFIALAIGTLYSNALFQLIPEAFGFNPLED
                     YYVSKSAVVFGGFYLFFFTEKILKILLKQKNEHHHGHSHYASESLPSKKDQEEGVMEK
                     LQNGDLDHMIPQHCSSELDGKAPMVDEKVIVGSLSVQDLQASQSACYWLKGVRYSDIG
                     TLAWMITLSDGLHNFIDGLAIGASFTVSVFQGISTSVAILCEEFPHELGDFVILLNAG
                     MSIQQALFFNFLSACCCYLGLAFGILAGSHFSANWIFALAGGMFLYISLADMFPEMNE
                     VCQEDERKGSILIPFIIQNLGLLTGFTIMVVLTMYSGQIQIG"
     exon            417..603
                     /gene="SLC39A14"
                     /gene_synonym="cig19; HCIN; HMNDYT2; LZT-Hs4; NET34;
                     ZIP14"
                     /inference="alignment:Splign:2.1.0"
     exon            604..773
                     /gene="SLC39A14"
                     /gene_synonym="cig19; HCIN; HMNDYT2; LZT-Hs4; NET34;
                     ZIP14"
                     /inference="alignment:Splign:2.1.0"
     exon            774..896
                     /gene="SLC39A14"
                     /gene_synonym="cig19; HCIN; HMNDYT2; LZT-Hs4; NET34;
                     ZIP14"
                     /inference="alignment:Splign:2.1.0"
     exon            897..1085
                     /gene="SLC39A14"
                     /gene_synonym="cig19; HCIN; HMNDYT2; LZT-Hs4; NET34;
                     ZIP14"
                     /inference="alignment:Splign:2.1.0"
     exon            1086..1293
                     /gene="SLC39A14"
                     /gene_synonym="cig19; HCIN; HMNDYT2; LZT-Hs4; NET34;
                     ZIP14"
                     /inference="alignment:Splign:2.1.0"
     exon            1294..1478
                     /gene="SLC39A14"
                     /gene_synonym="cig19; HCIN; HMNDYT2; LZT-Hs4; NET34;
                     ZIP14"
                     /inference="alignment:Splign:2.1.0"
     exon            1479..4663
                     /gene="SLC39A14"
                     /gene_synonym="cig19; HCIN; HMNDYT2; LZT-Hs4; NET34;
                     ZIP14"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4583..4588
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC39A14"
                     /gene_synonym="cig19; HCIN; HMNDYT2; LZT-Hs4; NET34;
                     ZIP14"
                     /note="hexamer: AATAAA"
     polyA_site      4602
                     /gene="SLC39A14"
                     /gene_synonym="cig19; HCIN; HMNDYT2; LZT-Hs4; NET34;
                     ZIP14"
                     /note="major polyA site"
     regulatory      4633..4638
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC39A14"
                     /gene_synonym="cig19; HCIN; HMNDYT2; LZT-Hs4; NET34;
                     ZIP14"
                     /note="hexamer: AATAAA"
     polyA_site      4663
                     /gene="SLC39A14"
                     /gene_synonym="cig19; HCIN; HMNDYT2; LZT-Hs4; NET34;
                     ZIP14"
ORIGIN      
        1 gcccggacgc agtgaggggg gtcggcgcgc gtgtctacgc ggacgcaccg gctaagctgc
       61 ttctgccgcc gccggccgcc tgggaccttg cggtgaggct gcgcggggcc gaggccgcct
      121 ccgagcgcca ggtttattca gtcaccatga agctgctgct gctgcacccg gccttccaga
      181 gctgcctcct gctgaccctg cttggcttat ggagaaccac ccctgaggct cacgcttcat
      241 ccctgggtgc accagctatc agcgctgcct ccttcctgca ggatctaata catcggtatg
      301 gcgagggtga cagcctcact ctgcagcagc tgaaggccct actcaaccac ctggatgtgg
      361 gagtgggccg gggtaatgtc acccagcacg tgcaaggaca caggaacctc tccacgtgct
      421 ttagttctgg agacctcttc actgcccaca atttcagcga gcagtcgcgg attgggagca
      481 gcgagctcca ggagttctgc cccaccatcc tccagcagct ggattcccgg gcctgcacct
      541 cggagaacca ggaaaacgag gagaatgagc agacggagga ggggcggcca agcgctgttg
      601 aagtgtgggg atacggtctc ctctgtgtga ccgtcatctc cctctgctcc ctcctggggg
      661 ccagcgtggt gcccttcatg aagaagacct tttacaagag gctgctgctc tacttcatag
      721 ctctggcgat tggaaccctc tactccaacg ccctcttcca gctcatcccg gaggcatttg
      781 gtttcaaccc tctggaagat tattatgtct ccaagtctgc agtggtgttt gggggctttt
      841 atcttttctt tttcacagag aagatcttga agattcttct taagcagaaa aatgagcatc
      901 atcatggaca cagccattat gcctctgagt cgcttccctc caagaaggac caggaggagg
      961 gggtgatgga gaagctgcag aacggggacc tggaccacat gattcctcag cactgcagca
     1021 gtgagctgga cggcaaggcg cccatggtgg acgagaaggt cattgtgggc tcgctctctg
     1081 tgcaggacct gcaggcttcc cagagtgctt gctactggct gaaaggtgtc cgctactctg
     1141 atatcggcac tctggcctgg atgatcactc tgagcgacgg cctccataat ttcatcgatg
     1201 gcctggccat cggtgcttcc ttcactgtgt cagttttcca aggcatcagc acctcggtgg
     1261 ccatcctctg tgaggagttc ccacatgagc taggagactt tgtcatcctg ctcaacgctg
     1321 ggatgagcat ccaacaagct ctcttcttca acttcctttc tgcctgctgc tgctacctgg
     1381 gtctggcctt tggcatcctg gccggcagcc acttctctgc caactggatt tttgcgctag
     1441 ctggaggaat gttcttgtat atttctctgg ctgatatgtt ccctgagatg aatgaggtct
     1501 gtcaagagga tgaaaggaag ggcagcatct tgattccatt tatcatccag aacctgggcc
     1561 tcctgactgg attcaccatc atggtggtcc tcaccatgta ttcaggacag atccagattg
     1621 ggtagggctc tgccaagagc ctgtgggact ggaagtcggg ccctgggctg cccgatcgcc
     1681 agcccgagga cttaccatcc acaatgcacc acggaagagg ccgttctatg aaaaactgac
     1741 acagactgta ttcctgcatt caaatgtcag ccgtttgtaa aatgctgtat cctaggaata
     1801 agctgccctg gtaaccagtc tctagctagt gcctcttgcc ctctcctcac ctccttttct
     1861 ctcagtgact ctggaacctg aatgcagctt acaagacaag cctgactttt ttctctgatt
     1921 accttggcct cctcttggaa ccagtgctga aaggttttga atcctttacc caacaatgca
     1981 aaaatagagc caatggttat aacttggcta gaaatatcaa gagttgaatc catagtgtgg
     2041 ggcccatgac tctagctggg caccttggac ctccagctgg ccaatagaag agacaggaga
     2101 caggaagcct tcccattttt tcaaagtctg tttaattgcc tattacttct ctcaaagaga
     2161 acctgaagtc agaacacatg agcagggtga gaggtgaggc aaggttcatc ctgaatggga
     2221 gaggaagtcg aaccactgct gtgtgtcttg tcaggatgct cacttgttcc tactgagatg
     2281 ctggatattg attttgtaac agcacctggt gtttcacggc tgtccgagtg agctaacgtg
     2341 gcggtgtggc tgcctggacc tcctctttca ggttaacgct gacagaatgg aggctcaggc
     2401 tgtctgcaag aaaacagttg gtttggctgt gattttgacc tcctcttccc cactgccatc
     2461 ttctaagaga ctttgtagct gcctcctaga agcacattct gagcacattt gagacctctg
     2521 tgttagaggg gagactgcac aaactatcct cccccaggtt gagacgtctg cagagtggca
     2581 agctgacttg tagaaatggg gtgccattta tgctctactt agacaagggt aatcagaaat
     2641 ggaatcagtg caggcaaaat ttaggatttg ccgcttccat aaatcaaagc atgactaata
     2701 gggggtctct gaaatgtaag ggcacaaact tcacttaggg catcgcagat gtttgcagaa
     2761 tggttggcct aatgattatg ctacagatgg gttttaaatg acccgtctag gttactgctt
     2821 ccttgcaaaa aaagtcgaat cctgcattga attgaatatg aatttctcta actctctcca
     2881 gaaaatggat ggagataact tgtctttaaa actgtaggcc agccttagcc actgtggagc
     2941 ccttgcctcc gagctctggc ttcaagggga gctcttctcc aggttcacta ggtgaattga
     3001 tttattatta tcatattgat aatgtgagat tctttagcca ctttggggag cctgtctctc
     3061 cagaagcctt tcttagtggt gcccacagtt ggagcccagg ggccatgttt gcaaactgat
     3121 tcatgtgcat ggctgacagg agtactggtt cactaccaat gcctgagctt ttctcttaca
     3181 tagaaaaact gtccgctctc agtaatcaca agcagcatcc gttttgtttt ctcttcttgg
     3241 gagacatctg tcaaaccagg aatattcttg aaaagaacgt gagcaggaaa aactgctggt
     3301 gatacttttt ttaagttttg tttttatctt gcctgttggc ttcaatacat ttgagaatac
     3361 gctgaagagg gaaaatttca gtgatggaga ttctagatta aatatcagga ctgatttcct
     3421 ggtgggatta tggtccagtt ttaccaaaga accaattcct tgaatgttgg aatctaactt
     3481 tttatattgt cattattatt gttgttttta aacggttctt tgtcttttct gttttatttt
     3541 tctcaagctg ctttcaggag ctagcagaaa ataactcaaa gttgaagact ctggaagatt
     3601 ttgctttaac ctaactcgca ttgatgtatt aaatttataa ttttagcatt cccaatagat
     3661 cctatcattc cttaaacata ataccctttg tcttggagta gaatactaag ttagagttag
     3721 tggatttcta gtttaggaga ggagctcaaa actataatct ttaacaaatt gaaaaatgaa
     3781 atagggtgtt ttcccttttt gtgcacacct atattacctt aagaaatttc cttccataga
     3841 cagctgcctc aaagggaaat cctctttaaa ccgtagttgg cgcagaggtc agtcctagtc
     3901 ggagcttagg aggggcggag acgctcacat cgtctgactt gagtcgccac tgattgtggc
     3961 aacagctttg cctcatgagt caaaaattgg caatttcttt tgatttttag ttgttgaatt
     4021 tgctgtttca agcatttgta catattagaa gtctaaggag tagcaagtca gtgggaggac
     4081 tttttcaccc ctggcattag cagcttcgac ctcattttcc agatgcacca gctcctatta
     4141 ataagttagc aaggaaagtg tatgtcacgt gcaggaacag tgaggcaggg acaggggttc
     4201 tgctccttct cacttcacca ccggcacaca gcttgcccct gtctttgccc ccaaaggtat
     4261 tttgtgtcta gtgtcaaatt ggagctattc ttcactggtc cttaaccttg ggttttaaaa
     4321 agaaggcttc tctgtttggg tagcgtaaga gctgagtata gtaagtcctc ttccaaagag
     4381 atggcaatat gctgggcatc tactttaaaa caaagttgtc tgatttttgc aagagaggtt
     4441 aggattttat tgttcttatt tccctttaca gttctgcagt tccatcacag tattttttta
     4501 aataactcag gtgtatgaga agaaattaga aaagaaaatt aacttatgtg gactgtaaat
     4561 gttttatttg taagattcta taaataaagc tatattctgt aattgttgag aatcccacgg
     4621 gtgatcattt gcaataaatg tggatgtaat gaaggctgtt gaa
//
