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Aliases for SLC30A5 Gene

Aliases for SLC30A5 Gene

  • Solute Carrier Family 30 Member 5 2 3 4 5
  • Solute Carrier Family 30 (Zinc Transporter), Member 5 2 3
  • ZnT-Like Transporter 1 3 4
  • ZNTL1 3 4
  • ZnT-5 3 4
  • ZNT5 3 4
  • ZTL1 3 4
  • Zinc Transporter ZTL1 3
  • Zinc Transporter 5 3
  • HZTL1 4

External Ids for SLC30A5 Gene

Previous GeneCards Identifiers for SLC30A5 Gene

  • GC05P068541
  • GC05P069955
  • GC05P068360
  • GC05P068405
  • GC05P068369
  • GC05P068425
  • GC05P068389
  • GC05P065345

Summaries for SLC30A5 Gene

Entrez Gene Summary for SLC30A5 Gene

  • This gene encodes a member of the SLC30A/ZnT family of zinc transporter proteins. ZnT proteins mediate both cellular zinc efflux and zinc sequestration into membrane-bound organelles. The encoded protein plays a role in the early secretory pathway as a heterodimer with zinc transporter 6, and may also regulate zinc sequestration into secretory granules of pancreatic beta cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Oct 2011]

GeneCards Summary for SLC30A5 Gene

SLC30A5 (Solute Carrier Family 30 Member 5) is a Protein Coding gene. Diseases associated with SLC30A5 include Deafness, Autosomal Recessive 49 and Nonsyndromic Deafness. Among its related pathways are Metal ion SLC transporters and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include cation transmembrane transporter activity and zinc ion transmembrane transporter activity. An important paralog of this gene is SLC30A7.

UniProtKB/Swiss-Prot for SLC30A5 Gene

  • Functions as a zinc transporter. May be a transporter of zinc into beta cells in order to form insulin crystals. Partly regulates cellular zinc homeostasis. Required with ZNT7 for the activation of zinc-requiring enzymes, alkaline phosphatases (ALPs). Transports zinc into the lumens of the Golgi apparatus and vesicular compartments where ALPs locate, thus, converting apoALPs to holoALPs. Required with ZNT6 and ZNT7 for the activation of TNAP.

Additional gene information for SLC30A5 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC30A5 Gene

Genomics for SLC30A5 Gene

Regulatory Elements for SLC30A5 Gene

Enhancers for SLC30A5 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
GH05H069516 1.6 Ensembl ENCODE dbSUPER 20.6 +425.6 425649 5.9 PKNOX1 FOXA2 ARNT FEZF1 ZNF2 ZNF302 FOS SP3 REST ZNF592 GTF2H2C ENSG00000198237 ENSG00000254701 GUSBP3 ENSG00000253333 CDH12P2 SLC30A5 RAD17 LOC728499 ENSG00000251158
GH05H069233 1.1 ENCODE 17.7 +141.3 141271 2.2 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 CCDC125 SLC30A5 GTF2H2C CDK7 ENSG00000198237 ENSG00000254701 CENPH CCNB1 SNORA50D SMN2
GH05H069489 1.6 Ensembl ENCODE dbSUPER 10.8 +399.7 399747 8.8 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 SP3 MXD4 NFYC ENSG00000198237 OCLN ENSG00000254701 MARVELD2 RNU6-724P SLC30A5 SMA4 CDK7 GUSBP3 ENSG00000179978
GH05H068214 1.4 ENCODE dbSUPER 9.9 -877.6 -877559 3.8 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 SP3 ZHX2 MXD4 LINC02219 SLC30A5 PIK3R1 GC05P068240
GH05H069188 1.1 ENCODE 12.4 +96.1 96079 2.4 PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF207 CDK7 CCDC125 SLC30A5 CCNB1 SNORA50D GTF2H2C MARVELD2 PIR48224 MRPS36
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC30A5 on UCSC Golden Path with GeneCards custom track

Promoters for SLC30A5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000181991 754 1601 HDGF FOXA2 PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Locations for SLC30A5 Gene

Genomic Locations for SLC30A5 Gene
chr5:69,093,646-69,131,072
(GRCh38/hg38)
Size:
37,427 bases
Orientation:
Plus strand
chr5:68,389,473-68,426,899
(GRCh37/hg19)

Genomic View for SLC30A5 Gene

Genes around SLC30A5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC30A5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC30A5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC30A5 Gene

Proteins for SLC30A5 Gene

  • Protein details for SLC30A5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TAD4-ZNT5_HUMAN
    Recommended name:
    Zinc transporter 5
    Protein Accession:
    Q8TAD4
    Secondary Accessions:
    • B7ZM89
    • Q6UX54
    • Q7L4M4
    • Q8TDG3
    • Q9BVY8
    • Q9H9H1

    Protein attributes for SLC30A5 Gene

    Size:
    765 amino acids
    Molecular mass:
    84047 Da
    Quaternary structure:
    • Heterooligomer. Interacts with ZNT6.
    Miscellaneous:
    • The histidine-rich loop is essential for ZNT5 and ZNT6 heterooligomeric complexes to activate TNAP.
    SequenceCaution:
    • Sequence=BAB14258.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC30A5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC30A5 Gene

Post-translational modifications for SLC30A5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SLC30A5 Gene

Domains & Families for SLC30A5 Gene

Gene Families for SLC30A5 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC30A5 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC30A5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TAD4

UniProtKB/Swiss-Prot:

ZNT5_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 SLC30A5: view

Function for SLC30A5 Gene

Molecular function for SLC30A5 Gene

UniProtKB/Swiss-Prot Function:
Functions as a zinc transporter. May be a transporter of zinc into beta cells in order to form insulin crystals. Partly regulates cellular zinc homeostasis. Required with ZNT7 for the activation of zinc-requiring enzymes, alkaline phosphatases (ALPs). Transports zinc into the lumens of the Golgi apparatus and vesicular compartments where ALPs locate, thus, converting apoALPs to holoALPs. Required with ZNT6 and ZNT7 for the activation of TNAP.
UniProtKB/Swiss-Prot Induction:
Down-regulated by ZNF658 in response to zinc.

Phenotypes From GWAS Catalog for SLC30A5 Gene

Gene Ontology (GO) - Molecular Function for SLC30A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005385 zinc ion transmembrane transporter activity TAS --
GO:0008270 zinc ion binding NAS 11937503
GO:0008324 cation transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC30A5: view
genes like me logo Genes that share phenotypes with SLC30A5: view

Animal Models for SLC30A5 Gene

MGI Knock Outs for SLC30A5:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC30A5 Gene

Localization for SLC30A5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC30A5 Gene

Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein. Note=Perimeter of granules, localizes to the brush border membrane of the enterocyte. Concentrated in early compartments of the secretory pathway such as COPII-coated vesicles.

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 SLC30A5 gene
Compartment Confidence
plasma membrane 5
nucleus 5
golgi apparatus 5
cytosol 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC30A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005730 nucleolus IDA --
GO:0005794 Golgi apparatus IEA,IDA 10330022
GO:0005887 integral component of plasma membrane TAS 11937503
GO:0016020 membrane IDA,IEA 11904301
genes like me logo Genes that share ontologies with SLC30A5: view

Pathways & Interactions for SLC30A5 Gene

genes like me logo Genes that share pathways with SLC30A5: view

Pathways by source for SLC30A5 Gene

Gene Ontology (GO) - Biological Process for SLC30A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006812 cation transport IEA --
GO:0006824 cobalt ion transport IDA 10330022
GO:0006829 zinc II ion transport IEA,IDA 10330022
genes like me logo Genes that share ontologies with SLC30A5: view

No data available for SIGNOR curated interactions for SLC30A5 Gene

Drugs & Compounds for SLC30A5 Gene

(1) Drugs for SLC30A5 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved Pharma 2359
genes like me logo Genes that share compounds with SLC30A5: view

Transcripts for SLC30A5 Gene

Unigene Clusters for SLC30A5 Gene

Solute carrier family 30 (zinc transporter), member 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC30A5 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a ·
SP1: - - - - -
SP2: - - - - -
SP3: - - -
SP4: - - - -
SP5: - -
SP6: - -
SP7: -
SP8: - - -
SP9: - -
SP10:
SP11:
SP12:

ExUns: 15b · 15c ^ 16 ^ 17 ^ 18a · 18b · 18c · 18d
SP1: - -
SP2:
SP3: - -
SP4:
SP5: - - -
SP6:
SP7:
SP8:
SP9:
SP10: - -
SP11:
SP12: -

Relevant External Links for SLC30A5 Gene

GeneLoc Exon Structure for
SLC30A5
ECgene alternative splicing isoforms for
SLC30A5

Expression for SLC30A5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC30A5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC30A5 Gene

This gene is overexpressed in Nasal epithelium (56.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC30A5 Gene



Protein tissue co-expression partners for SLC30A5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC30A5 Gene:

SLC30A5

SOURCE GeneReport for Unigene cluster for SLC30A5 Gene:

Hs.631975

mRNA Expression by UniProt/SwissProt for SLC30A5 Gene:

Q8TAD4-ZNT5_HUMAN
Tissue specificity: Ubiquitously expressed. Highly expressed in pancreas, liver and kidney. Expressed abundantly in insulin-containing beta cells, undetectable in other endocrine cell types including glucagon-secreting alpha cells and most acinar cells.

Evidence on tissue expression from TISSUES for SLC30A5 Gene

  • Intestine(4.4)
  • Nervous system(4.4)
  • Heart(4.2)
genes like me logo Genes that share expression patterns with SLC30A5: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC30A5 Gene

Orthologs for SLC30A5 Gene

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

Orthologs for SLC30A5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC30A5 33 34
  • 98.62 (n)
dog
(Canis familiaris)
Mammalia SLC30A5 33 34
  • 94.51 (n)
cow
(Bos Taurus)
Mammalia SLC30A5 33 34
  • 91.94 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 91 (a)
OneToMany
-- 34
  • 85 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Slc30a5 33 16 34
  • 88.04 (n)
rat
(Rattus norvegicus)
Mammalia Slc30a5 33
  • 87.63 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC30A5 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC30A5 33 34
  • 78.96 (n)
lizard
(Anolis carolinensis)
Reptilia SLC30A5 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc30a5 33
  • 73.89 (n)
Str.15099 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.33119 33
zebrafish
(Danio rerio)
Actinopterygii slc30a5 33 34
  • 70.08 (n)
wufi03d07 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13931 33
worm
(Caenorhabditis elegans)
Secernentea CELE_Y105E8A.3 33
  • 51.27 (n)
Y105E8A.3 34
  • 35 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSC2 34
  • 22 (a)
OneToMany
Species where no ortholog for SLC30A5 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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 SLC30A5 Gene

ENSEMBL:
Gene Tree for SLC30A5 (if available)
TreeFam:
Gene Tree for SLC30A5 (if available)

Paralogs for SLC30A5 Gene

Paralogs for SLC30A5 Gene

(1) SIMAP similar genes for SLC30A5 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for SLC30A5 Gene

genes like me logo Genes that share paralogs with SLC30A5: view

Variants for SLC30A5 Gene

Sequence variations from dbSNP and Humsavar for SLC30A5 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1000041054 -- 69,095,678(+) TTCTG(G/T)TCTGA intron-variant
rs1000219883 -- 69,130,093(+) TTAAG(C/T)CCATT utr-variant-3-prime
rs1000272060 -- 69,129,846(+) TTGAG(C/T)AAACA utr-variant-3-prime
rs1000445903 -- 69,123,112(+) ACAGT(A/G)GGTAT intron-variant
rs1000484147 -- 69,117,429(+) TATCT(G/T)AAGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC30A5 Gene

Variant ID Type Subtype PubMed ID
nsv1137005 CNV deletion 24896259
dgv5694n100 CNV gain 25217958

Variation tolerance for SLC30A5 Gene

Residual Variation Intolerance Score: 33.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.60; 45.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC30A5 Gene

Human Gene Mutation Database (HGMD)
SLC30A5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC30A5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC30A5 Gene

Disorders for SLC30A5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SLC30A5 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 49
  • autosomal recessive nonsyndromic deafness 49
nonsyndromic deafness
  • nonsyndromic hearing loss
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC30A5

Genetic Association Database (GAD)
SLC30A5
Human Genome Epidemiology (HuGE) Navigator
SLC30A5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC30A5
genes like me logo Genes that share disorders with SLC30A5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC30A5 Gene

Publications for SLC30A5 Gene

  1. Cloning and characterization of a novel mammalian zinc transporter, zinc transporter 5, abundantly expressed in pancreatic beta cells. (PMID: 11904301) Kambe T … Nagao M (The Journal of biological chemistry 2002) 2 3 4 22 60
  2. A novel zinc-regulated human zinc transporter, hZTL1, is localized to the enterocyte apical membrane. (PMID: 11937503) Cragg RA … Ford D (The Journal of biological chemistry 2002) 2 3 4 60
  3. Genetic variation and antioxidant response gene expression in the bronchial airway epithelium of smokers at risk for lung cancer. (PMID: 20689807) Wang X … Bell DA (PloS one 2010) 3 45 60
  4. Polymorphisms in mitochondrial genes and prostate cancer risk. (PMID: 19064571) Wang L … Thibodeau SN (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 45 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for SLC30A5 Gene

Sources for SLC30A5 Gene

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