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

Gene ID: 55630, updated on 19-Jul-2014
Official Symbol
SLC39A4provided by HGNC
Official Full Name
solute carrier family 39 (zinc transporter), member 4provided by HGNC
Primary source
HGNC:17129
See related
Ensembl:ENSG00000147804; HPRD:06137; 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]
See SLC39A4 in Epigenomics, MapViewer
Location:
8q24.3
Exon count :
12
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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, 160kDa Neighboring gene microRNA 939 Neighboring gene microRNA 6849 Neighboring gene vacuolar protein sorting 28 homolog (S. cerevisiae) Neighboring gene tonsoku-like, DNA repair protein Neighboring gene uncharacterized LOC100287098 Neighboring gene microRNA 6893

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
zinc ion transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular response to zinc ion starvation IEA
Inferred from Electronic Annotation
more info
 
cellular zinc ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
zinc ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic membrane-bounded vesicle IDA
Inferred from Direct Assay
more info
PubMed 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
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
zinc transporter ZIP4
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 

    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 proteins identical to 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
    pfam02535
    Location:1140
    Blast Score: 270
    Zip; ZIP Zinc transporter
  2. NM_017767.2NP_060237.2  zinc transporter ZIP4 isoform 1

    See proteins identical to 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
    Blast Score: 383
    Zip; ZIP Zinc transporter
  3. NM_130849.3NP_570901.2  zinc transporter ZIP4 isoform 2 precursor

    See proteins identical to 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
    Blast Score: 380
    Zip; ZIP Zinc transporter

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000008.11 

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

mRNA and Protein(s)

  1. XM_006716599.1XP_006716662.1  

    Conserved Domains (1) summary
    cl00437
    Location:328587
    Blast Score: 190
    Zip; ZIP Zinc transporter

Alternate HuRef

Genomic

  1. AC_000140.1 

    Range
    140751031..140755512
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 

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

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