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

Gene ID: 55630, updated on 5-Jan-2023

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
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Genomic context

See SLC39A4 in Genome Data Viewer
Location:
8q24.3
Exon count:
12
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144412414..144416844, complement)
110 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 uncharacterized LOC124902041 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

Homology

Clone Names

  • FLJ20327, MGC74741

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding EXP
Inferred from Experiment
more info
PubMed 
enables metal ion binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables zinc ion transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 cellular response to zinc ion starvation IEA
Inferred from Electronic Annotation
more info
 
involved_in intracellular zinc ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in sequestering of metal ion EXP
Inferred from Experiment
more info
PubMed 
involved_in sequestering of metal ion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in zinc ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in zinc ion transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
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 IEA
Inferred from Electronic Annotation
more info
 

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)

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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
    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
    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
    Q9NXC4
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    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)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

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