This gene encodes a member of the zinc-iron permease family. The encoded protein is localized to the cell membrane and acts as a zinc uptake transporter. This gene has been linked to prostate cancer, breast cancer, and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] See more...

Aliases for SLC39A1 Gene

Aliases for SLC39A1 Gene

  • Solute Carrier Family 39 Member 1 2 3 4 5
  • ZIP1 2 3 4
  • Solute Carrier Family 39 (Zinc Transporter), Member 1 2 3
  • Zrt- And Irt-Like Protein 1 3 4
  • Zinc Transporter ZIP1 3 4
  • ZIRTL 3 4
  • Solute Carrier Family 39 (Zinc Transporter), Member 3 3
  • Zinc/Iron Regulated Transporter-Like 2
  • Zinc-Iron-Regulated Transporter-Like 4
  • SLC39A1 5
  • ZIP-1 4
  • HZIP1 4
  • IRT1 4

External Ids for SLC39A1 Gene

Previous HGNC Symbols for SLC39A1 Gene

  • ZIRTL

Previous GeneCards Identifiers for SLC39A1 Gene

  • GC01M151748
  • GC01M149662
  • GC01M150706
  • GC01M151148
  • GC01M150744
  • GC01M152198
  • GC01M153931
  • GC01M125294

Summaries for SLC39A1 Gene

Entrez Gene Summary for SLC39A1 Gene

  • This gene encodes a member of the zinc-iron permease family. The encoded protein is localized to the cell membrane and acts as a zinc uptake transporter. This gene has been linked to prostate cancer, breast cancer, and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

GeneCards Summary for SLC39A1 Gene

SLC39A1 (Solute Carrier Family 39 Member 1) is a Protein Coding gene. Diseases associated with SLC39A1 include Retinitis Pigmentosa 50 and Acrodermatitis Enteropathica, Zinc-Deficiency Type. Among its related pathways are Metal ion SLC transporters and NRF2 pathway. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and zinc ion transmembrane transporter activity. An important paralog of this gene is SLC39A2.

UniProtKB/Swiss-Prot Summary for SLC39A1 Gene

  • Mediates zinc uptake. May function as a major endogenous zinc uptake transporter in many cells of the body. Responsible for the rapid uptake and accumulation of physiologically effective zinc in prostate cells.

Gene Wiki entry for SLC39A1 Gene

Additional gene information for SLC39A1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC39A1 Gene

Genomics for SLC39A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC39A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC39A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC39A1

Top Transcription factor binding sites by QIAGEN in the SLC39A1 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • CREB
  • deltaCREB
  • ITF-2
  • POU2F1
  • POU2F1a
  • PPAR-gamma1
  • PPAR-gamma2
  • Tal-1beta

Genomic Locations for SLC39A1 Gene

Genomic Locations for SLC39A1 Gene
chr1:153,959,099-153,968,184
(GRCh38/hg38)
Size:
9,086 bases
Orientation:
Minus strand
chr1:153,931,575-153,940,188
(GRCh37/hg19)
Size:
8,614 bases
Orientation:
Minus strand

Genomic View for SLC39A1 Gene

Genes around SLC39A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC39A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC39A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC39A1 Gene

Proteins for SLC39A1 Gene

  • Protein details for SLC39A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NY26-S39A1_HUMAN
    Recommended name:
    Zinc transporter ZIP1
    Protein Accession:
    Q9NY26
    Secondary Accessions:
    • B4DDY7
    • Q5T4K1
    • Q8N2H7
    • Q9BTV0
    • Q9UBI7
    • Q9Y2Z7
    • Q9Y380

    Protein attributes for SLC39A1 Gene

    Size:
    324 amino acids
    Molecular mass:
    34250 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD27717.1; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • Inhibited by Ni(2+) ions. Fe(2+) ions do not inhibit zinc uptake.

    Alternative splice isoforms for SLC39A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC39A1 Gene

Post-translational modifications for SLC39A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for SLC39A1
  • Boster Bio Antibodies for SLC39A1
  • Santa Cruz Biotechnology (SCBT) Antibodies for SLC39A1

No data available for DME Specific Peptides for SLC39A1 Gene

Domains & Families for SLC39A1 Gene

Gene Families for SLC39A1 Gene

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

Protein Domains for SLC39A1 Gene

InterPro:
Blocks:
  • Zinc transporter ZIP
ProtoNet:

Suggested Antigen Peptide Sequences for SLC39A1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57100, highly similar to Zinc transporter ZIP1 (B4DDY7_HUMAN)
  • cDNA FLJ51719, highly similar to Zinc transporter ZIP1 (B4DNN0_HUMAN)
  • cDNA FLJ90462 fis, clone NT2RP3002015, highly similar to Zinc transporter ZIP1 (Q5T4K1_HUMAN)
  • SLC39A1 protein (Q6IAD8_HUMAN)
  • Zrt- and Irt-like protein 1 (S39A1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NY26

UniProtKB/Swiss-Prot:

S39A1_HUMAN :
  • Belongs to the ZIP transporter (TC 2.A.5) family.
Family:
  • Belongs to the ZIP transporter (TC 2.A.5) family.
genes like me logo Genes that share domains with SLC39A1: view

Function for SLC39A1 Gene

Molecular function for SLC39A1 Gene

UniProtKB/Swiss-Prot Function:
Mediates zinc uptake. May function as a major endogenous zinc uptake transporter in many cells of the body. Responsible for the rapid uptake and accumulation of physiologically effective zinc in prostate cells.

Phenotypes From GWAS Catalog for SLC39A1 Gene

Gene Ontology (GO) - Molecular Function for SLC39A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IEA --
GO:0005385 zinc ion transmembrane transporter activity IBA 21873635
GO:0022890 inorganic cation transmembrane transporter activity TAS 10610721
GO:0046873 metal ion transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC39A1: view
genes like me logo Genes that share phenotypes with SLC39A1: view

Animal Models for SLC39A1 Gene

MGI Knock Outs for SLC39A1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC39A1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC39A1 Gene

Localization for SLC39A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC39A1 Gene

Cell membrane. Multi-pass membrane protein. Endoplasmic reticulum membrane. Multi-pass membrane protein. Note=Shows a vesicular localization corresponding partially to the endoplasmic reticulum in several epithelial cell lines.

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 SLC39A1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
cytosol 3
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
golgi apparatus 2
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for SLC39A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA,IBA 21873635
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC39A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC39A1 Gene

Pathways & Interactions for SLC39A1 Gene

genes like me logo Genes that share pathways with SLC39A1: view

Gene Ontology (GO) - Biological Process for SLC39A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0006811 ion transport IEA --
GO:0006812 cation transport TAS 10610721
GO:0006829 zinc ion transport IEA --
GO:0030001 metal ion transport IEA --
genes like me logo Genes that share ontologies with SLC39A1: view

No data available for SIGNOR curated interactions for SLC39A1 Gene

Drugs & Compounds for SLC39A1 Gene

(5) Drugs for SLC39A1 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc chloride Approved, Investigational Pharma Transporter, substrate 0
Zinc sulfate, unspecified form Approved, Experimental Pharma Transporter, substrate 0
genes like me logo Genes that share compounds with SLC39A1: view

Transcripts for SLC39A1 Gene

mRNA/cDNA for SLC39A1 Gene

6 REFSEQ mRNAs :
25 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC39A1

Alternative Splicing Database (ASD) splice patterns (SP) for SLC39A1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b · 9c · 9d · 9e · 9f · 9g ·
SP1: - - - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - - - - - - - - -
SP4: - - - - - - - -
SP5: - - - - - - -
SP6: - - - -
SP7: - - -
SP8: - -
SP9: -
SP10:

ExUns: 9h
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for SLC39A1 Gene

GeneLoc Exon Structure for
SLC39A1

Expression for SLC39A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC39A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC39A1 Gene

This gene is overexpressed in Bone (58.6) and Adrenal (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC39A1 Gene



Protein tissue co-expression partners for SLC39A1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC39A1

SOURCE GeneReport for Unigene cluster for SLC39A1 Gene:

Hs.7854

mRNA Expression by UniProt/SwissProt for SLC39A1 Gene:

Q9NY26-S39A1_HUMAN
Tissue specificity: Ubiquitous. Expressed in most adult and fetal tissues including the epidermis.

Evidence on tissue expression from TISSUES for SLC39A1 Gene

  • Lung(4.8)
  • Kidney(4.8)
  • Nervous system(4.6)
  • Muscle(4.5)
  • Thyroid gland(4.4)
  • Intestine(3.8)
  • Skin(3.7)
  • Pancreas(3.2)
  • Blood(2.6)
  • Liver(2.6)
  • Eye(2.6)
  • Stomach(2.3)
  • Heart(2.2)
  • Gall bladder(2.1)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with SLC39A1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC39A1 Gene

Orthologs for SLC39A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC39A1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC39A1 30 31
  • 99.59 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC39A1 30 31
  • 89.92 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC39A1 30 31
  • 89.71 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc39a1 30 17 31
  • 86.93 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc39a1 30
  • 86.83 (n)
Oppossum
(Monodelphis domestica)
Mammalia SLC39A1 31
  • 85 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC39A1 31
  • 46 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc39a1 30
  • 61.44 (n)
Str.7666 30
Zebrafish
(Danio rerio)
Actinopterygii slc39a3 31
  • 34 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG9430 31
  • 24 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea F31C3.4 31
  • 29 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 21 (a)
ManyToMany
Species where no ortholog for SLC39A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 SLC39A1 Gene

ENSEMBL:
Gene Tree for SLC39A1 (if available)
TreeFam:
Gene Tree for SLC39A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC39A1: view image

Paralogs for SLC39A1 Gene

Paralogs for SLC39A1 Gene

(2) SIMAP similar genes for SLC39A1 Gene using alignment to 7 proteins:

  • S39A1_HUMAN
  • B4DDY7_HUMAN
  • L8ECE7_HUMAN
  • Q5T4K2_HUMAN
  • Q5T4K3_HUMAN
  • Q5T4K4_HUMAN
  • Q6IAD8_HUMAN

Pseudogenes.org Pseudogenes for SLC39A1 Gene

genes like me logo Genes that share paralogs with SLC39A1: view

Variants for SLC39A1 Gene

Additional dbSNP identifiers (rs#s) for SLC39A1 Gene

Variation tolerance for SLC39A1 Gene

Residual Variation Intolerance Score: 38.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.77; 16.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC39A1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC39A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Structural Variations from Database of Genomic Variants (DGV) for SLC39A1 Gene

Disorders for SLC39A1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for SLC39A1 Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC39A1

genes like me logo Genes that share disorders with SLC39A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC39A1 Gene

Publications for SLC39A1 Gene

  1. Isolation and characterization of human and mouse ZIRTL, a member of the IRT1 family of transporters, mapping within the epidermal differentiation complex. (PMID: 10610721) Lioumi M … Ragoussis J (Genomics 1999) 2 3 4 23
  2. The human ZIP1 transporter mediates zinc uptake in human K562 erythroleukemia cells. (PMID: 11301334) Gaither LA … Eide DJ (The Journal of biological chemistry 2001) 3 4 23
  3. A di-leucine sorting signal in ZIP1 (SLC39A1) mediates endocytosis of the protein. (PMID: 17635580) Huang L … Kirschke CP (The FEBS journal 2007) 3 23
  4. Overexpression of the ZIP1 zinc transporter induces an osteogenic phenotype in mesenchymal stem cells. (PMID: 16203195) Tang Z … Gupta A (Bone 2006) 3 23
  5. hZIP1 zinc uptake transporter down regulation and zinc depletion in prostate cancer. (PMID: 16153295) Franklin RB … Costello LC (Molecular cancer 2005) 3 23

Products for SLC39A1 Gene

  • Signalway Proteins for SLC39A1

Sources for SLC39A1 Gene