Slc39a8 solute carrier family 39 (metal ion transporter), member 8 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc39a8provided by MGI
Official Full Name: solute carrier family 39 (metal ion transporter), member 8provided by MGI
Primary source: MGI:MGI:1914797
See related: Ensembl:ENSMUSG00000053897 AllianceGenome:MGI:1914797
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Zip8; ZIP-8; BIGM103; 4933419D20Rik
Summary: Enables zinc:bicarbonate symporter activity. Involved in several processes, including bicarbonate transport; intracellular monoatomic cation homeostasis; and monoatomic cation transmembrane transport. Located in apical plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; extraembryonic component; genitourinary system; and sensory organ. Used to study left ventricular noncompaction. Human ortholog(s) of this gene implicated in congenital disorder of glycosylation type IIn. Orthologous to human SLC39A8 (solute carrier family 39 member 8). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in lung adult (RPKM 38.3), placenta adult (RPKM 18.0) and 12 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 G3; 3 63.04 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (135522644..135594333)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (135816882..135888572)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Neuronal SLC39A8 deficiency impairs cerebellar development by altering manganese homeostasis.
Title: Neuronal SLC39A8 deficiency impairs cerebellar development by altering manganese homeostasis.
The manganese transporter SLC39A8 links alkaline ceramidase 1 to inflammatory bowel disease.
Title: The manganese transporter SLC39A8 links alkaline ceramidase 1 to inflammatory bowel disease.
Targeting ZIP8 mediated ferroptosis as a novel strategy to protect against the retinal pigment epithelial degeneration.
Title: Targeting ZIP8 mediated ferroptosis as a novel strategy to protect against the retinal pigment epithelial degeneration.
Metal-ion transporter SLC39A8 is required for brain manganese uptake and accumulation.
Title: Metal-ion transporter SLC39A8 is required for brain manganese uptake and accumulation.
Loss of hepatic manganese transporter ZIP8 disrupts serum transferrin glycosylation and the glutamate-glutamine cycle.
Title: Loss of hepatic manganese transporter ZIP8 disrupts serum transferrin glycosylation and the glutamate-glutamine cycle.
A mouse model characterizes the roles of ZIP8 in systemic iron recycling and lung inflammation and infection.
Title: A mouse model characterizes the roles of ZIP8 in systemic iron recycling and lung inflammation and infection.
The schizophrenia-associated missense variant rs13107325 regulates dendritic spine density.
Title: The schizophrenia-associated missense variant rs13107325 regulates dendritic spine density.
Protective effects of ZIP8 on Toxoplasma gondii-induced acute hepatocyte injury in mice.
Title: Protective effects of ZIP8 on Toxoplasma gondii-induced acute hepatocyte injury in mice.
The schizophrenia-associated variant in SLC39A8 alters protein glycosylation in the mouse brain.
Title: The schizophrenia-associated variant in SLC39A8 alters protein glycosylation in the mouse brain.
ZIP8 exacerbates collagen-induced arthritis by increasing pathogenic T cell responses.
Title: ZIP8 exacerbates collagen-induced arthritis by increasing pathogenic T cell responses.

Submit: New GeneRIF Correction See all GeneRIFs (33)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (6) 1 citation
Targeted (10) 1 citation

General gene information

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Markers

NoName (e-PCR)
- UniSTS:234832

Slc39a8 (e-PCR), detects polymorphism
- UniSTS:508555

Slc39a8 (e-PCR), detects polymorphism
- UniSTS:536495

Slc39a8 (e-PCR), detects polymorphism
- UniSTS:546009

Slc39a8 (e-PCR), detects polymorphism
- UniSTS:502746

AA986696 (e-PCR)
- UniSTS:178937

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables monoatomic cation:bicarbonate symporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables monoatomic cation:bicarbonate symporter activity	IDA Inferred from Direct Assay more info	PubMed
enables monoatomic cation:bicarbonate symporter activity	ISO Inferred from Sequence Orthology more info
enables zinc ion transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables zinc:bicarbonate symporter activity	IDA Inferred from Direct Assay more info	PubMed
enables zinc:bicarbonate symporter activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of arginine metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bicarbonate transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cadmium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in cadmium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in cadmium ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cadmium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of cartilage homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular detoxification of cadmium ion	ISO Inferred from Sequence Orthology more info
involved_in cellular detoxification of cadmium ion	ISS Inferred from Sequence or Structural Similarity more info
involved_in cobalt ion transport	ISO Inferred from Sequence Orthology more info
involved_in cobalt ion transport	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of extracellular matrix organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of extracellular matrix organization	ISO Inferred from Sequence Orthology more info
involved_in intracellular manganese ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular monoatomic cation homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular zinc ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular zinc ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in iron ion import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in iron ion import across plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in iron ion import across plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in iron ion import across plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of leukocyte adhesion to arterial endothelial cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in manganese ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in manganese ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in manganese ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in mercury ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial manganese ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial manganese ion transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of canonical NF-kappaB signal transduction	IEA Inferred from Electronic Annotation more info
acts_upstream_of_negative_effect negative regulation of canonical NF-kappaB signal transduction	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of inflammatory response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_negative_effect negative regulation of inflammatory response	ISO Inferred from Sequence Orthology more info
involved_in plasma membrane selenite transport	IDA Inferred from Direct Assay more info	PubMed
involved_in plasma membrane selenite transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of protein N-linked glycosylation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in regulation of membrane potential	ISO Inferred from Sequence Orthology more info
involved_in regulation of membrane potential	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 import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in zinc ion import across plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in zinc ion import across plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in zinc ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in zinc ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in zinc ion transport	ISO Inferred from Sequence Orthology more info
involved_in zinc ion transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in basolateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in organelle membrane	ISO Inferred from Sequence Orthology more info
located_in organelle membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: metal cation symporter ZIP8

Names: Zrt- and Irt-like protein 8; zinc transporter ZIP8

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.

mRNA and Protein(s)

NM_001135149.1 → NP_001128621.1 metal cation symporter ZIP8 precursor

See identical proteins and their annotated locations for NP_001128621.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 through 3 encode the same protein.

Source sequence(s)

AC107690, AK016853, AK028215, BY730883

Consensus CDS

CCDS17859.1

UniProtKB/Swiss-Prot

Q8BTQ3, Q8BUD6, Q91W10, Q9D426, Q9D5V4

Related

ENSMUSP00000136634.2, ENSMUST00000180196.8

Conserved Domains (1) summary

pfam02535
Location:126 → 453

Zip; ZIP Zinc transporter
NM_001135150.1 → NP_001128622.1 metal cation symporter ZIP8 precursor

See identical proteins and their annotated locations for NP_001128622.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1 through 3 encode the same protein.

Source sequence(s)

AC107690, AK028215, CN528304

Consensus CDS

CCDS17859.1

UniProtKB/Swiss-Prot

Q8BTQ3, Q8BUD6, Q91W10, Q9D426, Q9D5V4

Related

ENSMUSP00000128245.2, ENSMUST00000167390.8

Conserved Domains (1) summary

pfam02535
Location:126 → 453

Zip; ZIP Zinc transporter
NM_026228.5 → NP_080504.3 metal cation symporter ZIP8 precursor

See identical proteins and their annotated locations for NP_080504.3

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 through 3 encode the same protein.

Source sequence(s)

AC107690, AK014895

Consensus CDS

CCDS17859.1

UniProtKB/Swiss-Prot

Q8BTQ3, Q8BUD6, Q91W10, Q9D426, Q9D5V4

Related

ENSMUSP00000080640.4, ENSMUST00000081978.10

Conserved Domains (1) summary

pfam02535
Location:126 → 453

Zip; ZIP Zinc transporter

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000069.7 Reference GRCm39 C57BL/6J

Range

135522644..135594333

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006501934.4 → XP_006501997.1 metal cation symporter ZIP8 isoform X1

See identical proteins and their annotated locations for XP_006501997.1

UniProtKB/Swiss-Prot

Q8BTQ3, Q8BUD6, Q91W10, Q9D426, Q9D5V4

Related

ENSMUSP00000029810.6, ENSMUST00000029810.6

Conserved Domains (1) summary

pfam02535
Location:126 → 453

Zip; ZIP Zinc transporter
XM_006501935.5 → XP_006501998.1 metal cation symporter ZIP8 isoform X2

Conserved Domains (1) summary

cl00437
Location:126 → 282

Zip; ZIP Zinc transporter
XM_006501936.5 → XP_006501999.1 metal cation symporter ZIP8 isoform X3

Conserved Domains (1) summary

cl00437
Location:126 → 283

Zip; ZIP Zinc transporter
XM_036163248.1 → XP_036019141.1 metal cation symporter ZIP8 isoform X4

Conserved Domains (1) summary

pfam02535
Location:1 → 246

Zip; ZIP Zinc transporter