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    SLC39A4 solute carrier family 39 member 4 [ Homo sapiens (human) ]

    Gene ID: 55630, updated on 12-Mar-2017
    Official Symbol
    SLC39A4provided by HGNC
    Official Full Name
    solute carrier family 39 member 4provided by HGNC
    Primary source
    HGNC:HGNC:17129
    See related
    Ensembl:ENSG00000147804 MIM:607059; Vega:OTTHUMG00000165208
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AEZ; ZIP4; AWMS2
    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]
    Orthologs
    Location:
    8q24.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (144412414..144416895, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145637798..145642279, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene cleavage and polyadenylation specific factor 1 Neighboring gene microRNA 1234 Neighboring gene microRNA 6849 Neighboring gene VPS28, ESCRT-I subunit Neighboring gene tonsoku like, DNA repair protein Neighboring gene TONSL antisense RNA 1 Neighboring gene microRNA 6893

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Metal ion SLC transporters, organism-specific biosystem (from REACTOME)
      Metal ion SLC transporters, organism-specific biosystemSix SLC gene families encode proteins which mediate transport of metals. The families are SLC11, SLC30, SLC31, SLC39, SLC40 and SLC41 (He L et al, 2009; Bressler JP et al, 2007).
    • Mineral absorption, organism-specific biosystem (from KEGG)
      Mineral absorption, organism-specific biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
    • Mineral absorption, conserved biosystem (from KEGG)
      Mineral absorption, conserved biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
    • NRF2 pathway, organism-specific biosystem (from WikiPathways)
      NRF2 pathway, organism-specific biosystemNRF2 is part of a group of transcription factors called nuclear receptors. It is activated under oxidative stress conditions and subsequently activates several antioxidative genes and proteins.
    • SLC-mediated transmembrane transport, organism-specific biosystem (from REACTOME)
      SLC-mediated transmembrane transport, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP-powered pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to power the m...
    • Senescence and Autophagy in Cancer, organism-specific biosystem (from WikiPathways)
      Senescence and Autophagy in Cancer, organism-specific biosystemSenescense and Autophagy Pathways in Cancer
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds, organism-specific biosystem (from REACTOME)
      Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds, organism-specific biosystemHexoses like glucose, galactose and fructose serve as basic fuel molecules for eukaryotic cells. Indeed, glucose is the main energy source for mammalian cells. These sugars are unable to diffuse acro...
    • Zinc homeostasis, organism-specific biosystem (from WikiPathways)
      Zinc homeostasis, organism-specific biosystemZinc is a transition metal and catalytic cofactor involved in many biological processes such as proliferation, development and differentiation, regulation of DNA synthesis, genomic stability, cell ac...
    • Zinc influx into cells by the SLC39 gene family, organism-specific biosystem (from REACTOME)
      Zinc influx into cells by the SLC39 gene family, organism-specific biosystemThe SLC39 gene family encode zinc transporters belonging to the ZIP (Zrt-, Irt-like proteins) family of metal ion transporters. All ZIPs transport metal ions into the cytoplasm of cells, be it across...
    • Zinc transporters, organism-specific biosystem (from REACTOME)
      Zinc transporters, organism-specific biosystemZinc is an essential element for all organisms because it serves as a catalytic or structural cofactor for many different proteins. Cellular zinc homoeostasis is co-ordinated through Zn2+-specific tr...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ20327, MGC74741

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    zinc ion transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    zinc ion transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    cellular response to zinc ion starvation IEA
    Inferred from Electronic Annotation
    more info
     
    cellular zinc ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    zinc II ion transmembrane import IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    recycling endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    zinc transporter ZIP4
    Names
    solute carrier family 39 (zinc transporter), member 4
    zrt- and Irt-like protein 4

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012234.2 RefSeqGene

      Range
      4996..9477
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001280557.1NP_001267486.1  zinc transporter ZIP4 isoform 3

      See identical proteins and their annotated locations for NP_001267486.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks multiple 5' exons, compared to variant 2. It initiates translation at a downstream in-frame start codon. The encoded isoform (3) has a shorter N-terminus, compared to isoform 2.
      Source sequence(s)
      AK000489, BE798833
      UniProtKB/TrEMBL
      Q9NX22
      Conserved Domains (1) summary
      cl00437
      Location:1140
      Zip; ZIP Zinc transporter
    2. NM_017767.2NP_060237.2  zinc transporter ZIP4 isoform 1

      See identical proteins and their annotated locations for NP_060237.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 2. The encoded isoform (1) is shorter and has a distinct N-terminus, compared to isoform 2.
      Source sequence(s)
      AF205589, AK000695, BC062625, BI765535, DA915781
      Consensus CDS
      CCDS43782.1
      UniProtKB/Swiss-Prot
      Q6P5W5
      Related
      ENSP00000276833, OTTHUMP00000228914, ENST00000276833, OTTHUMT00000382687
      Conserved Domains (1) summary
      pfam02535
      Location:303613
      Zip; ZIP Zinc transporter
    3. NM_130849.3NP_570901.2  zinc transporter ZIP4 isoform 2 precursor

      See identical proteins and their annotated locations for NP_570901.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the longest isoform (2).
      Source sequence(s)
      BC062625, DA837547, DC361959
      Consensus CDS
      CCDS6424.1
      UniProtKB/Swiss-Prot
      Q6P5W5
      Related
      ENSP00000301305, OTTHUMP00000228915, ENST00000301305, OTTHUMT00000382688
      Conserved Domains (1) summary
      pfam02535
      Location:328638
      Zip; ZIP Zinc transporter

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

      Range
      144412414..144416895 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006716599.1XP_006716662.1  zinc transporter ZIP4 isoform X1

      Conserved Domains (1) summary
      cl00437
      Location:328587
      Zip; ZIP Zinc transporter

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      145676089..145680570 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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