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Aliases for SLC30A10 Gene

Aliases for SLC30A10 Gene

  • Solute Carrier Family 30 Member 10 2 3 4 5
  • Manganese Transporter SLC30A10 3 4
  • Zinc Transporter 8 2 3
  • ZnT-10 3 4
  • ZNT10 3 4
  • ZNT8 3 4
  • Solute Carrier Family 30, Member 10 2
  • Zinc Transporter 10 3
  • HMNDYT1 3
  • HMDPC 3
  • ZRC1 3

External Ids for SLC30A10 Gene

Previous GeneCards Identifiers for SLC30A10 Gene

  • GC01M216475
  • GC01M218153
  • GC01M219858
  • GC01M190762

Summaries for SLC30A10 Gene

Entrez Gene Summary for SLC30A10 Gene

  • This gene is highly expressed in the liver and is inducible by manganese. Its protein product appears to be critical in maintaining manganese levels, and has higher specificity for manganese than zinc. Loss of function mutations appear to result in a pleomorphic phenotype, including dystonia and adult-onset parkinsonism. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]

GeneCards Summary for SLC30A10 Gene

SLC30A10 (Solute Carrier Family 30 Member 10) is a Protein Coding gene. Diseases associated with SLC30A10 include Hypermanganesemia With Dystonia, Polycythemia, And Cirrhosis and Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, And Chronic Liver Disease. Among its related pathways are Metal ion SLC transporters. GO annotations related to this gene include cation transmembrane transporter activity. An important paralog of this gene is SLC30A1.

UniProtKB/Swiss-Prot for SLC30A10 Gene

  • Plays a pivotal role in manganese transport. Manganese is an essential cation for the function of several enzymes, including some crucially important for the metabolism of neurotransmitters and other neuronal metabolic pathways. However, elevated levels of manganese are cytotoxic and induce oxidative stress, mitochondrial dysfunction and apoptosis. Acts as manganese efflux transporter and confers protection against manganese-induced cell death (PubMed:22341972, PubMed:22341971, PubMed:25319704, PubMed:27226609, PubMed:27307044). Also acts as zinc transporter involved in zinc homeostasis. Seems to mediate zinc transport into early endosomes and recycling endosomes to prevent zinc toxicity; the function may be regulated by heterodimerization with other zinc transporters of the SLC30A subfamily. The SLC30A3:SLC30A10 heterodimer is involved in zinc transport-dependent regulation of the EGFR/ERK transduction pathway in endosomes. May be involved in regulation of zinc-dependent senescence of vascular smooth muscle cells (PubMed:22706290, PubMed:22427991, PubMed:26728129).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC30A10 Gene

Genomics for SLC30A10 Gene

Regulatory Elements for SLC30A10 Gene

Enhancers for SLC30A10 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G219906 1.3 Ensembl ENCODE 15.7 +51.9 51869 1.4 HDGF PKNOX1 FOXA2 CREB3L1 ARNT YBX1 ZNF766 ZNF592 MEF2D SMARCA4 SLC30A10 RIMKLBP2 RPS15AP12 ZC3H11B ENSG00000223842 SNX2P1 GC01P219890
GH01G219902 0.8 ENCODE 16.7 +55.7 55706 1.5 NFRKB ZNF121 ZNF316 POLR2A NFE2 ZNF652 SMAD5 L3MBTL2 RNF2 NR4A1 SLC30A10 GC01P219890
GH01G219876 0.8 ENCODE 10.2 +82.5 82458 0.1 HDAC1 CTCF CBX3 ARNT RAD21 CHAMP1 FOXM1 GATA2 ADNP SMC3 SLC30A10 PIR41243 GC01P219862
GH01G219917 0.7 ENCODE 11.3 +41.1 41052 1.5 PKNOX1 JUN CEBPG HIC1 ZNF316 SCRT2 FOS NFE2 MAFK NR2F1 SLC30A10 ENSG00000221673 GC01P219890
GH01G219901 0.5 ENCODE 10.5 +57.2 57242 0.2 THRAP3 IKZF1 ZNF24 MGA ZNF592 SLC30A10 GC01P219890
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC30A10 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC30A10 Gene

Chromosome:
1
Start:
219,685,427 bp from pter
End:
219,959,315 bp from pter
Size:
273,889 bases
Orientation:
Minus strand

Genomic View for SLC30A10 Gene

Genes around SLC30A10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC30A10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC30A10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC30A10 Gene

Proteins for SLC30A10 Gene

  • Protein details for SLC30A10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6XR72-ZNT10_HUMAN
    Recommended name:
    Zinc transporter 10
    Protein Accession:
    Q6XR72
    Secondary Accessions:
    • Q49AL9
    • Q9NPW0

    Protein attributes for SLC30A10 Gene

    Size:
    485 amino acids
    Molecular mass:
    52684 Da
    Quaternary structure:
    • Forms homodimers. Forms heterodimers and high-molecular weight oligomers with SLC30A3, SLC30A2 and SLC30A4; heterodimerization is mediated by covalent-bound tyrosine residues and occurs probably in a tissue-specific manner.
    SequenceCaution:
    • Sequence=AAP44332.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in position 427.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC30A10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC30A10 Gene

Post-translational modifications for SLC30A10 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC30A10 Gene

No data available for DME Specific Peptides for SLC30A10 Gene

Domains & Families for SLC30A10 Gene

Gene Families for SLC30A10 Gene

Protein Domains for SLC30A10 Gene

Graphical View of Domain Structure for InterPro Entry

Q6XR72

UniProtKB/Swiss-Prot:

ZNT10_HUMAN :
  • Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily.
Family:
  • Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily.
genes like me logo Genes that share domains with SLC30A10: view

Function for SLC30A10 Gene

Molecular function for SLC30A10 Gene

UniProtKB/Swiss-Prot Function:
Plays a pivotal role in manganese transport. Manganese is an essential cation for the function of several enzymes, including some crucially important for the metabolism of neurotransmitters and other neuronal metabolic pathways. However, elevated levels of manganese are cytotoxic and induce oxidative stress, mitochondrial dysfunction and apoptosis. Acts as manganese efflux transporter and confers protection against manganese-induced cell death (PubMed:22341972, PubMed:22341971, PubMed:25319704, PubMed:27226609, PubMed:27307044). Also acts as zinc transporter involved in zinc homeostasis. Seems to mediate zinc transport into early endosomes and recycling endosomes to prevent zinc toxicity; the function may be regulated by heterodimerization with other zinc transporters of the SLC30A subfamily. The SLC30A3:SLC30A10 heterodimer is involved in zinc transport-dependent regulation of the EGFR/ERK transduction pathway in endosomes. May be involved in regulation of zinc-dependent senescence of vascular smooth muscle cells (PubMed:22706290, PubMed:22427991, PubMed:26728129).
UniProtKB/Swiss-Prot Induction:
Down-regulated by ZNF658 in response to zinc. Down-regulated by angiotensin-2.

Gene Ontology (GO) - Molecular Function for SLC30A10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005384 manganese ion transmembrane transporter activity TAS --
GO:0005385 zinc ion transmembrane transporter activity IBA --
GO:0005515 protein binding IPI 26728129
GO:0008324 cation transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC30A10: view
genes like me logo Genes that share phenotypes with SLC30A10: view

Human Phenotype Ontology for SLC30A10 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC30A10

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC30A10 Gene

Localization for SLC30A10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC30A10 Gene

Cell membrane; Multi-pass membrane protein. Golgi apparatus, trans-Golgi network. Recycling endosome. Early endosome. Note=Relocalized from the trans-Golgi network to the plasma membrane upon elevated extracellular Zn concentrations (PubMed:22706290). {ECO:0000269 PubMed:22706290}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC30A10 gene
Compartment Confidence
plasma membrane 5
endosome 5
golgi apparatus 3
cytosol 1

Gene Ontology (GO) - Cellular Components for SLC30A10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005769 early endosome IDA 26728129
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane IEA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC30A10: view

Pathways & Interactions for SLC30A10 Gene

SuperPathways for SLC30A10 Gene

SuperPathway Contained pathways
1 Metal ion SLC transporters
genes like me logo Genes that share pathways with SLC30A10: view

Pathways by source for SLC30A10 Gene

1 BioSystems pathway for SLC30A10 Gene

Interacting Proteins for SLC30A10 Gene

Gene Ontology (GO) - Biological Process for SLC30A10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006812 cation transport IEA --
GO:0006828 manganese ion transport IMP 22341972
GO:0006829 zinc II ion transport IEA --
genes like me logo Genes that share ontologies with SLC30A10: view

No data available for SIGNOR curated interactions for SLC30A10 Gene

Drugs & Compounds for SLC30A10 Gene

(1) Drugs for SLC30A10 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SLC30A10: view

Transcripts for SLC30A10 Gene

mRNA/cDNA for SLC30A10 Gene

Unigene Clusters for SLC30A10 Gene

Solute carrier family 30, member 10:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC30A10 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c
SP1: -
SP2: - -
SP3:

Relevant External Links for SLC30A10 Gene

GeneLoc Exon Structure for
SLC30A10
ECgene alternative splicing isoforms for
SLC30A10

Expression for SLC30A10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC30A10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC30A10 Gene

This gene is overexpressed in Liver (x17.9).

Protein differential expression in normal tissues from HIPED for SLC30A10 Gene

This gene is overexpressed in Fetal Liver (66.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC30A10 Gene



Protein tissue co-expression partners for SLC30A10 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC30A10 Gene:

SLC30A10

SOURCE GeneReport for Unigene cluster for SLC30A10 Gene:

Hs.284450

mRNA Expression by UniProt/SwissProt for SLC30A10 Gene:

Q6XR72-ZNT10_HUMAN
Tissue specificity: Specifically expressed in fetal liver and fetal brain (PubMed:15154973). Expressed in adult tissues with relative levels small intestine > liver > testes > brain > ovary > colon > cervix > prostate > placenta (PubMed:22706290).

Evidence on tissue expression from TISSUES for SLC30A10 Gene

  • Nervous system(4.3)
  • Liver(2.8)
  • Pancreas(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC30A10 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • head
  • mouth
  • salivary gland
Thorax:
  • breast
  • esophagus
Abdomen:
  • kidney
  • liver
  • spleen
Pelvis:
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with SLC30A10: view

Primer Products

Orthologs for SLC30A10 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC30A10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC30A10 34 35
  • 99.45 (n)
cow
(Bos Taurus)
Mammalia SLC30A10 34 35
  • 86.46 (n)
mouse
(Mus musculus)
Mammalia Slc30a10 34 16 35
  • 82.84 (n)
rat
(Rattus norvegicus)
Mammalia Slc30a10 34
  • 81.57 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC30A10 35
  • 71 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC30A10 35
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC30A10 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC30A10 34 35
  • 64.61 (n)
lizard
(Anolis carolinensis)
Reptilia SLC30A10 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc30a10 34
  • 66.15 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15729 34
zebrafish
(Danio rerio)
Actinopterygii slc30a10 34 35
  • 62.71 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5130 35
  • 20 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea cdf-1 35
  • 20 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ZRC1 35
  • 31 (a)
ManyToMany
COT1 35 37
  • 29 (a)
ManyToMany
Species where no ortholog for SLC30A10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC30A10 Gene

ENSEMBL:
Gene Tree for SLC30A10 (if available)
TreeFam:
Gene Tree for SLC30A10 (if available)

Paralogs for SLC30A10 Gene

Paralogs for SLC30A10 Gene

(2) SIMAP similar genes for SLC30A10 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for SLC30A10 Gene

genes like me logo Genes that share paralogs with SLC30A10: view

Variants for SLC30A10 Gene

Sequence variations from dbSNP and Humsavar for SLC30A10 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs281860284 Pathogenic, Hypermanganesemia with dystonia 1 (HMNDYT1) [MIM:613280] 219,928,175(-) CTTCC(C/T)CACCG intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense
rs281860291 Pathogenic, Hypermanganesemia with dystonia 1 (HMNDYT1) [MIM:613280] 219,915,861(-) CACCC(C/T)GCACA nc-transcript-variant, reference, missense
rs1057519589 Pathogenic 219,927,981(-) TGCAG(C/T)AGCGG intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, stop-gained
rs1057519590 Pathogenic 219,927,949(-) GTCCC(-/C)GGCGC intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, frameshift-variant
rs281860285 Pathogenic 219,928,119(-) CCTGG(-/CCCGGCCCG)AGCGC intron-variant, nc-transcript-variant, upstream-variant-2KB, cds-indel

Structural Variations from Database of Genomic Variants (DGV) for SLC30A10 Gene

Variant ID Type Subtype PubMed ID
esv3575695 CNV gain 25503493

Variation tolerance for SLC30A10 Gene

Residual Variation Intolerance Score: 40.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.12; 22.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC30A10 Gene

Human Gene Mutation Database (HGMD)
SLC30A10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC30A10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC30A10 Gene

Disorders for SLC30A10 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SLC30A10 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypermanganesemia with dystonia, polycythemia, and cirrhosis
  • dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease
dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease
dystonia
  • dystonic disease
diabetes mellitus, ketosis-prone
  • diabetic ketoacidosis
diabetes mellitus, insulin-dependent
  • diabetes, type 1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ZNT10_HUMAN
  • Hypermanganesemia with dystonia 1 (HMNDYT1) [MIM:613280]: A metabolic autosomal recessive disorder characterized by dystonia, parkinsonism, extrapyramidal signs, severe hypermanganesemia, polycythemia, and chronic hepatic disease, including steatosis and cirrhosis. {ECO:0000269 PubMed:22341971, ECO:0000269 PubMed:22341972, ECO:0000269 PubMed:25319704}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC30A10

Genetic Association Database (GAD)
SLC30A10
Human Genome Epidemiology (HuGE) Navigator
SLC30A10
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC30A10
genes like me logo Genes that share disorders with SLC30A10: view

No data available for Genatlas for SLC30A10 Gene

Publications for SLC30A10 Gene

  1. In silico identification and expression of SLC30 family genes: an expressed sequence tag data mining strategy for the characterization of zinc transporters' tissue expression. (PMID: 15154973) Seve M. … Favier A. (BMC Genomics 2004) 2 3 4 22 64
  2. Differential targeting of SLC30A10/ZnT10 heterodimers to endolysosomal compartments modulates EGF-induced MEK/ERK1/2 activity. (PMID: 26728129) Zhao Y. … Salazar G. (Traffic 2016) 3 4 64
  3. Structural elements in the transmembrane and cytoplasmic domains of the metal transporter SLC30A10 are required for its manganese efflux activity. (PMID: 27307044) Zogzas C.E. … Mukhopadhyay S. (J. Biol. Chem. 2016) 3 4 64
  4. SLC30A10 is a cell surface-localized manganese efflux transporter, and parkinsonism-causing mutations block its intracellular trafficking and efflux activity. (PMID: 25319704) Leyva-Illades D. … Mukhopadhyay S. (J. Neurosci. 2014) 3 4 64
  5. Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. (PMID: 22341971) Quadri M. … Bonifati V. (Am. J. Hum. Genet. 2012) 3 4 64

Products for SLC30A10 Gene

Sources for SLC30A10 Gene

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