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    SLC30A5 solute carrier family 30 member 5 [ Homo sapiens (human) ]

    Gene ID: 64924, updated on 3-Dec-2024

    Summary

    Official Symbol
    SLC30A5provided by HGNC
    Official Full Name
    solute carrier family 30 member 5provided by HGNC
    Primary source
    HGNC:HGNC:19089
    See related
    Ensembl:ENSG00000145740 MIM:607819; AllianceGenome:HGNC:19089
    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
    ZNT5; ZTL1; ZNTL1; ZnT-5
    Summary
    This gene encodes a member of the SLC30A/ZnT family of zinc transporter proteins. ZnT proteins mediate both cellular zinc efflux and zinc sequestration into membrane-bound organelles. The encoded protein plays a role in the early secretory pathway as a heterodimer with zinc transporter 6, and may also regulate zinc sequestration into secretory granules of pancreatic beta cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Oct 2011]
    Expression
    Ubiquitous expression in thyroid (RPKM 17.6), gall bladder (RPKM 11.0) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC30A5 in Genome Data Viewer
    Location:
    5q13.1-q13.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (69094014..69131069)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (69916495..69953585)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (68389841..68426896)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 3C pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr5:68370875-68371043 Neighboring gene SUMO2 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16075 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22638 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16076 Neighboring gene Sharpr-MPRA regulatory region 11799 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:68396101-68396678 Neighboring gene small nucleolar RNA, H/ACA box 50D Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:68462657-68463622 Neighboring gene small nucleolar RNA U13 Neighboring gene cyclin B1

    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

    • MGC5499, FLJ12496, FLJ12756

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables antiporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    NOT enables cadmium ion transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables zinc efflux transmembrane transporter activity IDA
    Inferred from Direct Assay
    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
     
    enables zinc:proton antiporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in ER to Golgi transport vesicle membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi cis cisterna membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in secretory granule IDA
    Inferred from Direct Assay
    more info
     
    located_in secretory granule membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in secretory granule membrane TAS
    Traceable Author Statement
    more info
     
    located_in trans-Golgi network membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    proton-coupled zinc antiporter SLC30A5
    Names
    solute carrier family 30 (zinc transporter), member 5
    zinc transporter ZTL1
    znT-like transporter 1

    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_030415.2 RefSeqGene

      Range
      5066..42121
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001251969.2NP_001238898.1  proton-coupled zinc antiporter SLC30A5 isoform 3

      See identical proteins and their annotated locations for NP_001238898.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 5' coding region, differs in the 3' UTR and lacks a large portion of the coding region, compared to variant 1. The encoded isoform (3) is significantly shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      BC017441, BC144349, DB090660
      Consensus CDS
      CCDS58955.1
      UniProtKB/Swiss-Prot
      Q8TAD4
      Related
      ENSP00000421251.1, ENST00000502979.1
    2. NM_022902.5NP_075053.2  proton-coupled zinc antiporter SLC30A5 isoform 1

      See identical proteins and their annotated locations for NP_075053.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL833716, BX537394, DB090660
      Consensus CDS
      CCDS3996.1
      UniProtKB/Swiss-Prot
      B7ZM89, Q6UX54, Q7L4M4, Q8TAD4, Q8TDG3, Q9BVY8, Q9H9H1
      Related
      ENSP00000379836.3, ENST00000396591.8
      Conserved Domains (2) summary
      TIGR01297
      Location:428729
      CDF; cation diffusion facilitator family transporter
      pfam01545
      Location:428649
      Cation_efflux; Cation efflux family
    3. NM_024055.5NP_076960.1  proton-coupled zinc antiporter SLC30A5 isoform 2

      See identical proteins and their annotated locations for NP_076960.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and lacks a large portion of the coding region, compared to variant 1. The encoded isoform (2) is significantly shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      BC017441, DB090660
      Consensus CDS
      CCDS34173.1
      UniProtKB/Swiss-Prot
      Q8TAD4
      Related
      ENSP00000370241.4, ENST00000380860.8

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      69094014..69131069
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006714672.5XP_006714735.1  proton-coupled zinc antiporter SLC30A5 isoform X2

      Conserved Domains (2) summary
      COG1230
      Location:412670
      CzcD; Co/Zn/Cd efflux system component [Inorganic ion transport and metabolism]
      pfam01545
      Location:428649
      Cation_efflux; Cation efflux family
    2. XM_005248569.4XP_005248626.1  proton-coupled zinc antiporter SLC30A5 isoform X1

      UniProtKB/TrEMBL
      Q9H9X0
      Conserved Domains (2) summary
      TIGR01297
      Location:387688
      CDF; cation diffusion facilitator family transporter
      pfam01545
      Location:387608
      Cation_efflux; Cation efflux family
    3. XM_017009749.2XP_016865238.1  proton-coupled zinc antiporter SLC30A5 isoform X3

      UniProtKB/TrEMBL
      Q9H9X0

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      69916495..69953585
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353179.1XP_054209154.1  proton-coupled zinc antiporter SLC30A5 isoform X2

    2. XM_054353178.1XP_054209153.1  proton-coupled zinc antiporter SLC30A5 isoform X1

      UniProtKB/TrEMBL
      Q9H9X0
    3. XM_054353180.1XP_054209155.1  proton-coupled zinc antiporter SLC30A5 isoform X3

      UniProtKB/TrEMBL
      Q9H9X0