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

Gene ID: 55630, updated on 1-Jun-2020

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
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

Genomic context

See SLC39A4 in Genome Data Viewer
Location:
8q24.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (144412414..144417146, 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 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
zinc ion transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
zinc ion transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
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
PubMed 
signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
zinc ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cell IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001280557.2NP_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
  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
  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
    Related
    ENSP00000301305.3, ENST00000301305.7

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    144412414..144417146 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447189.1XP_024302957.1  zinc transporter ZIP4 isoform X2

    Conserved Domains (1) summary
    cl00437
    Location:234493
    Zip; ZIP Zinc transporter

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654716.1 Reference GRCh38.p13 PATCHES

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