LOCUS       NM_130849               2123 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens solute carrier family 39 member 4 (SLC39A4),
            transcript variant 2, mRNA.
ACCESSION   NM_130849
VERSION     NM_130849.4
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 2123)
  AUTHORS   Shen,M., Li,K., Wang,L., Feng,L., Zhang,X., Zhang,H., Zhou,H. and
            Pei,G.
  TITLE     ZIP4 upregulation aggravates nucleus pulposus cell degradation by
            promoting inflammation and oxidative stress by mediating the
            HDAC4-FoxO3a axis
  JOURNAL   Aging (Albany NY) 16 (1), 685-700 (2024)
   PUBMED   38217540
  REMARK    GeneRIF: ZIP4 upregulation aggravates nucleus pulposus cell
            degradation by promoting inflammation and oxidative stress by
            mediating the HDAC4-FoxO3a axis.
REFERENCE   2  (bases 1 to 2123)
  AUTHORS   Zhang,Z., Huo,J., Ji,X., Wei,L. and Zhang,J.
  TITLE     GREM1, LRPPRC and SLC39A4 as potential biomarkers of intervertebral
            disc degeneration: a bioinformatics analysis based on multiple
            microarray and single-cell sequencing data
  JOURNAL   BMC Musculoskelet Disord 24 (1), 729 (2023)
   PUBMED   37700277
  REMARK    GeneRIF: GREM1, LRPPRC and SLC39A4 as potential biomarkers of
            intervertebral disc degeneration: a bioinformatics analysis based
            on multiple microarray and single-cell sequencing data.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2123)
  AUTHORS   Liu,Y., Bafaro,E.M., Cowan,A.E. and Dempski,R.E.
  TITLE     The transmembrane domains mediate oligomerization of the human ZIP4
            transporter in vivo
  JOURNAL   Sci Rep 12 (1), 21083 (2022)
   PUBMED   36473915
  REMARK    GeneRIF: The transmembrane domains mediate oligomerization of the
            human ZIP4 transporter in vivo.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2123)
  AUTHORS   Zhu,B., Huo,R., Zhi,Q., Zhan,M., Chen,X. and Hua,Z.C.
  TITLE     Increased expression of zinc transporter ZIP4, ZIP11, ZnT1, and
            ZnT6 predicts poor prognosis in pancreatic cancer
  JOURNAL   J Trace Elem Med Biol 65, 126734 (2021)
   PUBMED   33631610
  REMARK    GeneRIF: Increased expression of zinc transporter ZIP4, ZIP11,
            ZnT1, and ZnT6 predicts poor prognosis in pancreatic cancer.
REFERENCE   5  (bases 1 to 2123)
  AUTHORS   Andrews,G.K.
  TITLE     Regulation and function of Zip4, the acrodermatitis enteropathica
            gene
  JOURNAL   Biochem Soc Trans 36 (Pt 6), 1242-1246 (2008)
   PUBMED   19021533
  REMARK    Review article
REFERENCE   6  (bases 1 to 2123)
  AUTHORS   Nakano,A., Nakano,H., Nomura,K., Toyomaki,Y. and Hanada,K.
  TITLE     Novel SLC39A4 mutations in acrodermatitis enteropathica
  JOURNAL   J Invest Dermatol 120 (6), 963-966 (2003)
   PUBMED   12787121
  REMARK    GeneRIF: Three novel mutations, 1017ins53, which creates premature
            termination codon, and two mis-sense mutations, R95C and Q303H.
REFERENCE   7  (bases 1 to 2123)
  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   8  (bases 1 to 2123)
  AUTHORS   Kury,S., Dreno,B., Bezieau,S., Giraudet,S., Kharfi,M., Kamoun,R.
            and Moisan,J.P.
  TITLE     Identification of SLC39A4, a gene involved in acrodermatitis
            enteropathica
  JOURNAL   Nat Genet 31 (3), 239-240 (2002)
   PUBMED   12068297
  REMARK    GeneRIF: SLC39A4 is centrally involved in the pathogenesis of
            acrodermatitis enteropathica.
REFERENCE   9  (bases 1 to 2123)
  AUTHORS   Wang,K., Zhou,B., Kuo,Y.M., Zemansky,J. and Gitschier,J.
  TITLE     A novel member of a zinc transporter family is defective in
            acrodermatitis enteropathica
  JOURNAL   Am J Hum Genet 71 (1), 66-73 (2002)
   PUBMED   12032886
  REMARK    GeneRIF: A novel member of a zinc transporter family, hZIP4, is
            defective in acrodermatitis enteropathica.
REFERENCE   10 (bases 1 to 2123)
  AUTHORS   Wang,K., Pugh,E.W., Griffen,S., Doheny,K.F., Mostafa,W.Z.,
            al-Aboosi,M.M., el-Shanti,H. and Gitschier,J.
  TITLE     Homozygosity mapping places the acrodermatitis enteropathica gene
            on chromosomal region 8q24.3
  JOURNAL   Am J Hum Genet 68 (4), 1055-1060 (2001)
   PUBMED   11254458
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC233992.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_130849.3.
            
            Summary: This gene encodes a member of the zinc/iron-regulated
            transporter-like protein (ZIP) family. The encoded protein
            localizes to cell membranes and is required for zinc uptake in the
            intestine. Mutations in this gene result in acrodermatitis
            enteropathica. Multiple transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Jul
            2013].
            
            Transcript Variant: This variant (2) encodes the longest isoform
            (2).
            
            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 :: BC062625.1, AK025537.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2152474 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000301305.8/ ENSP00000301305.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-247               AC233992.5         178910-179156       c
            248-529             AC233992.5         178122-178403       c
            530-722             AC233992.5         177539-177731       c
            723-859             AC233992.5         177286-177422       c
            860-1031            AC233992.5         177037-177208       c
            1032-1204           AC233992.5         176574-176746       c
            1205-1342           AC233992.5         176270-176407       c
            1343-1474           AC233992.5         176062-176193       c
            1475-1529           AC233992.5         175825-175879       c
            1530-1682           AC233992.5         175549-175701       c
            1683-1870           AC233992.5         175071-175258       c
            1871-2123           AC233992.5         174726-174978       c
FEATURES             Location/Qualifiers
     source          1..2123
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     gene            1..2123
                     /gene="SLC39A4"
                     /gene_synonym="AEZ; AWMS2; ZIP4"
                     /note="solute carrier family 39 member 4"
                     /db_xref="GeneID:55630"
                     /db_xref="HGNC:HGNC:17129"
                     /db_xref="MIM:607059"
     exon            1..247
                     /gene="SLC39A4"
                     /gene_synonym="AEZ; AWMS2; ZIP4"
                     /inference="alignment:Splign:2.1.0"
     CDS             56..1999
                     /gene="SLC39A4"
                     /gene_synonym="AEZ; AWMS2; ZIP4"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; zinc transporter ZIP4; zrt- and Irt-like
                     protein 4; solute carrier family 39 (zinc transporter),
                     member 4; zinc transporter 4; ZRT/IRT-like protein 4"
                     /codon_start=1
                     /product="zinc transporter ZIP4 isoform 2 precursor"
                     /protein_id="NP_570901.3"
                     /db_xref="CCDS:CCDS6424.1"
                     /db_xref="GeneID:55630"
                     /db_xref="HGNC:HGNC:17129"
                     /db_xref="MIM:607059"
                     /translation="MASLVSLELGLLLAVLVVTATASPPAGLLSLLTSGQGALDQEAL
                     GGLLNTLADRVHCANGPCGKCLSVEDALGLGEPEGSGLPPGPVLEARYVARLSAAAVL
                     YLSNPEGTCEDARAGLWASHADHLLALLESPKALTPGLSWLLQRMQARAAGQTPKMAC
                     VDIPQLLEEAVGAGAPGSAGGVLAALLDHVRSGSCFHALPSPQYFVDFVFQQHSSEVP
                     MTLAELSALMQRLGVGREAHSDHSHRHRGASSRDPVPLISSSNSSSVWDTVCLSARDV
                     MAAYGLSEQAGVTPEAWAQLSPALLQQQLSGACTSQSRPPVQDQLSQSERYLYGSLAT
                     LLICLCAVFGLLLLTCTGCRGVTHYILQTFLSLAVGAVTGDAVLHLTPKVLGLHTHSE
                     EGLSPQPTWRLLAMLAGLYAFFLFENLFNLLLPRDPEDLEDGPCGHSSHSHGGHSHGV
                     SLQLAPSELRQPKPPHEGSRADLVAEESPELLNPEPRRLSPELRLLPYMITLGDAVHN
                     FADGLAVGAAFASSWKTGLATSLAVFCHELPHELGDFAALLHAGLSVRQALLLNLASA
                     LTAFAGLYVALAVGVSEESEAWILAVATGLFLYVALCDMLPAMLKVRDPRPWLLFLLH
                     NVGLLGGWTVLLLLSLYEDDITF"
     exon            248..529
                     /gene="SLC39A4"
                     /gene_synonym="AEZ; AWMS2; ZIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            530..722
                     /gene="SLC39A4"
                     /gene_synonym="AEZ; AWMS2; ZIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            723..859
                     /gene="SLC39A4"
                     /gene_synonym="AEZ; AWMS2; ZIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            860..1031
                     /gene="SLC39A4"
                     /gene_synonym="AEZ; AWMS2; ZIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1032..1204
                     /gene="SLC39A4"
                     /gene_synonym="AEZ; AWMS2; ZIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1205..1342
                     /gene="SLC39A4"
                     /gene_synonym="AEZ; AWMS2; ZIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1343..1474
                     /gene="SLC39A4"
                     /gene_synonym="AEZ; AWMS2; ZIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1475..1529
                     /gene="SLC39A4"
                     /gene_synonym="AEZ; AWMS2; ZIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1530..1682
                     /gene="SLC39A4"
                     /gene_synonym="AEZ; AWMS2; ZIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1683..1870
                     /gene="SLC39A4"
                     /gene_synonym="AEZ; AWMS2; ZIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1871..2123
                     /gene="SLC39A4"
                     /gene_synonym="AEZ; AWMS2; ZIP4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2100..2105
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC39A4"
                     /gene_synonym="AEZ; AWMS2; ZIP4"
                     /note="hexamer: AGTAAA"
     polyA_site      2123
                     /gene="SLC39A4"
                     /gene_synonym="AEZ; AWMS2; ZIP4"
                     /note="major polyA site"
ORIGIN      
        1 agaagcactg ggccttggcc acagcaacac ccactgagca cgctgggagc tgagtatggc
       61 gtccctggtc tcgctggagc tggggctgct tctggctgtg ctggtggtga cggcgacggc
      121 gtccccgcct gctggtctgc tgagcctgct cacctctggc cagggcgctc tggatcaaga
      181 ggctctgggc ggcctgttaa atacgctggc ggaccgtgtg cactgcgcca acgggccgtg
      241 tggaaagtgc ctgtctgtgg aggacgccct gggcctgggc gagcctgagg ggtcagggct
      301 gcccccgggc ccggtcctgg aggccaggta cgtcgcccgc ctcagtgccg ccgccgtcct
      361 gtacctcagc aaccccgagg gcacctgtga ggacgctcgg gctggcctct gggcctctca
      421 tgcagaccac ctcctggccc tgctcgagag ccccaaggcc ctgaccccgg gcctgagctg
      481 gctgctgcag aggatgcagg cccgggctgc cggccagacc cccaagatgg cctgcgtaga
      541 tatccctcag ctgctggagg aggcggtggg ggcgggggct ccgggcagtg ctggcggcgt
      601 cctggctgcc ctgctggacc atgtcaggag cgggtcttgc ttccacgcct tgccgagccc
      661 tcagtacttc gtggactttg tgttccagca gcacagcagc gaggtcccta tgacgctggc
      721 cgagctgtca gccttgatgc agcgcctggg ggtgggcagg gaggcccaca gtgaccacag
      781 tcatcggcac aggggagcca gcagccggga ccctgtgccc ctcatcagct ccagcaacag
      841 ctccagtgtg tgggacacgg tatgcctgag tgccagggac gtgatggctg catatggact
      901 gtcggaacag gctggggtga ccccggaggc ctgggcccaa ctgagccctg ccctgctcca
      961 acagcagctg agtggagcct gcacctccca gtccaggccc cccgtccagg accagctcag
     1021 ccagtcagag aggtatctgt acggctccct ggccacgctg ctcatctgcc tctgcgcggt
     1081 ctttggcctc ctgctgctga cctgcactgg ctgcaggggg gtcacccact acatcctgca
     1141 gaccttcctg agcctggcag tgggtgcagt cactggggac gctgtcctgc atctgacgcc
     1201 caaggtgctg gggctgcata cacacagcga agagggcctc agcccacagc ccacctggcg
     1261 cctcctggct atgctggccg ggctctacgc cttcttcctg tttgagaacc tcttcaatct
     1321 cctgctgccc agggacccgg aggacctgga ggacgggccc tgcggccaca gcagccatag
     1381 ccacgggggc cacagccacg gtgtgtccct gcagctggca cccagcgagc tccggcagcc
     1441 caagcccccc cacgagggct cccgcgcaga cctggtggcg gaggagagcc cggagctgct
     1501 gaaccctgag cccaggagac tgagcccaga gttgaggcta ctgccctata tgatcactct
     1561 gggcgacgcc gtgcacaact tcgccgacgg gctggccgtg ggcgccgcct tcgcgtcctc
     1621 ctggaagacc gggctggcca cctcgctggc cgtgttctgc cacgagttgc cacacgagct
     1681 gggggacttc gccgccttgc tgcacgcggg gctgtccgtg cgccaagcac tgctgctgaa
     1741 cctggcctcc gcgctcacgg ccttcgctgg tctctacgtg gcactcgcgg ttggagtcag
     1801 cgaggagagc gaggcctgga tcctggcagt ggccaccggc ctgttcctct acgtagcact
     1861 ctgcgacatg ctcccggcga tgttgaaagt acgggacccg cggccctggc tcctcttcct
     1921 gctgcacaac gtgggcctgc tgggcggctg gaccgtcctg ctgctgctgt ccctgtacga
     1981 ggatgacatc accttctgat accctgccct agtcccccac ctttgactta agatcccaca
     2041 cctcacaaac ctacagccca gaaaccagaa gcccctatag aggccccagt cccaactcca
     2101 gtaaagacac tcttgtcctt gga
//
