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

    Gene ID: 55630, updated on 5-Feb-2024

    Summary

    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; AllianceGenome:HGNC:17129
    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]
    Expression
    Biased expression in duodenum (RPKM 47.9), small intestine (RPKM 33.9) and 3 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC39A4 in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144412414..144416844, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145582227..145586657, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145637798..145642228, 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 ATAC-STARR-seq lymphoblastoid active region 28097 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19681 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19682 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28098 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:145638844-145639041 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145639267-145640084 Neighboring gene uncharacterized LOC124902041 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145647393-145648164 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145648165-145648934 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145651263-145652026 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19684 Neighboring gene VPS28 subunit of ESCRT-I Neighboring gene tonsoku like, DNA repair protein Neighboring gene TONSL antisense RNA 1 Neighboring gene microRNA 6893

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20327, MGC74741

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal ion binding EXP
    Inferred from Experiment
    more info
    PubMed 
    enables monoatomic cation:bicarbonate symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables zinc ion binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables zinc ion sensor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables zinc ion sequestering activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables zinc ion sequestering activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables zinc ion transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables zinc ion transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables zinc ion transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    involved_in bicarbonate transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to zinc ion starvation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular zinc ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in zinc ion import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in zinc ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in zinc ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in recycling endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    zinc transporter ZIP4
    Names
    ZRT/IRT-like protein 4
    solute carrier family 39 (zinc transporter), member 4
    zinc transporter 4
    zrt- and Irt-like protein 4

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_012234.3 RefSeqGene

      Range
      5000..9430
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001280557.2NP_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
      UniProtKB/TrEMBL
      Q9NX22
      Related
      ENST00000532718.5
      Conserved Domains (1) summary
      cl00437
      Location:1140
      Zip; ZIP Zinc transporter
    2. NM_001374839.1NP_001361768.1  zinc transporter ZIP4 isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AC233992
      UniProtKB/TrEMBL
      A0A0S2Z5G2
      Conserved Domains (2) summary
      pfam02535
      Location:234544
      Zip; ZIP Zinc transporter
      pfam18292
      Location:28102
      ZIP4_domain; Zinc transporter ZIP4 domain
    3. NM_017767.3NP_060237.3  zinc transporter ZIP4 isoform 1

      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)
      AC233992
      Consensus CDS
      CCDS43782.1
      UniProtKB/TrEMBL
      A0A0S2Z5G8
      Related
      ENSP00000276833.5, ENST00000276833.9
      Conserved Domains (2) summary
      pfam02535
      Location:303613
      Zip; ZIP Zinc transporter
      pfam18292
      Location:37171
      ZIP4_domain; Zinc transporter ZIP4 domain
    4. NM_130849.4NP_570901.3  zinc transporter ZIP4 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the longest isoform (2).
      Source sequence(s)
      AC233992
      Consensus CDS
      CCDS6424.1
      UniProtKB/Swiss-Prot
      Q6P5W5, Q7L5S5, Q9H6T8, Q9NXC4
      UniProtKB/TrEMBL
      A0A0S2Z5G8
      Related
      ENSP00000301305.4, ENST00000301305.8
      Conserved Domains (2) summary
      pfam02535
      Location:328638
      Zip; ZIP Zinc transporter
      pfam18292
      Location:46196
      ZIP4_domain; Zinc transporter ZIP4 domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      144412414..144416844 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024447189.2XP_024302957.1  zinc transporter ZIP4 isoform X1

      UniProtKB/TrEMBL
      A0A0S2Z5G2
      Conserved Domains (1) summary
      cl00437
      Location:234493
      Zip; ZIP Zinc transporter

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654716.1 Reference GRCh38.p14 PATCHES

      Range
      143017..147447 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332202.1XP_054188177.1  zinc transporter ZIP4 isoform X2

      UniProtKB/TrEMBL
      A0A0S2Z5G8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      145582227..145586657 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360773.1XP_054216748.1  zinc transporter ZIP4 isoform X3

      UniProtKB/TrEMBL
      A8K3E8