Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SLC39A13 Gene

Aliases for SLC39A13 Gene

  • Solute Carrier Family 39 (Zinc Transporter), Member 13 2 3
  • Solute Carrier Family 39 (Metal Ion Transporter), Member 13 2 3
  • LIV-1 Subfamily Of ZIP Zinc Transporter 9 3 4
  • Zrt- And Irt-Like Protein 13 3 4
  • LZT-Hs9 3 4
  • Solute Carrier Family 39 Member 13 4
  • Zinc Transporter ZIP13 3
  • ZIP-13 4
  • ZIP13 4

External Ids for SLC39A13 Gene

Summaries for SLC39A13 Gene

Entrez Gene Summary for SLC39A13 Gene

  • This gene encodes a member of the LIV-1 subfamily of the ZIP transporter family. The encoded transmembrane protein functions as a zinc transporter. Mutations in this gene have been associated with the spondylocheiro dysplastic form of Ehlers-Danlos syndrome.[provided by RefSeq, Mar 2010]

GeneCards Summary for SLC39A13 Gene

SLC39A13 (Solute Carrier Family 39 (Zinc Transporter), Member 13) is a Protein Coding gene. Diseases associated with SLC39A13 include ehlers-danlos syndrome, spondylocheirodysplastic type and spondylocheirodysplasia, ehlers-danlos syndrome-like. GO annotations related to this gene include protein homodimerization activity and zinc ion transmembrane transporter activity. An important paralog of this gene is SLC39A12.

UniProtKB/Swiss-Prot for SLC39A13 Gene

  • Acts as a zinc-influx transporter.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC39A13 Gene

Genomics for SLC39A13 Gene

Genomic Location for SLC39A13 Gene

Start:
47,407,132 bp from pter
End:
47,416,501 bp from pter
Size:
9,370 bases
Orientation:
Plus strand

Genomic View for SLC39A13 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC39A13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC39A13 Gene

Regulatory Elements for SLC39A13 Gene

Proteins for SLC39A13 Gene

  • Protein details for SLC39A13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96H72-S39AD_HUMAN
    Recommended name:
    Zinc transporter ZIP13
    Protein Accession:
    Q96H72
    Secondary Accessions:
    • D3DQR6
    • D3DQR7
    • E9PLY1
    • E9PQV3
    • Q659D9
    • Q8N7C9
    • Q8WV10

    Protein attributes for SLC39A13 Gene

    Size:
    371 amino acids
    Molecular mass:
    39011 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=BAC05365.1; Type=Frameshift; Positions=314; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC39A13 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC39A13 Gene

Proteomics data for SLC39A13 Gene at MOPED

Post-translational modifications for SLC39A13 Gene

No Post-translational modifications

No data available for DME Specific Peptides for SLC39A13 Gene

Domains for SLC39A13 Gene

Gene Families for SLC39A13 Gene

Protein Domains for SLC39A13 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

S39AD_HUMAN
Family:
  • Belongs to the ZIP transporter (TC 2.A.5) family.:
    • Q96H72
genes like me logo Genes that share domains with SLC39A13: view

Function for SLC39A13 Gene

Molecular function for SLC39A13 Gene

UniProtKB/Swiss-Prot Function: Acts as a zinc-influx transporter.

Gene Ontology (GO) - Molecular Function for SLC39A13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005385 zinc ion transmembrane transporter activity IDA 21917916
GO:0005515 protein binding IPI 25416956
GO:0042803 protein homodimerization activity IPI 21917916
GO:0046873 metal ion transmembrane transporter activity --
genes like me logo Genes that share ontologies with SLC39A13: view

Phenotypes for SLC39A13 Gene

genes like me logo Genes that share phenotypes with SLC39A13: view

Animal Models for SLC39A13 Gene

MGI Knock Outs for SLC39A13:

miRNA for SLC39A13 Gene

miRTarBase miRNAs that target SLC39A13

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SLC39A13 Gene

Localization for SLC39A13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC39A13 Gene

Golgi apparatus membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC39A13 Gene COMPARTMENTS Subcellular localization image for SLC39A13 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 3
cytosol 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SLC39A13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus ISS 18985159
GO:0016020 membrane --
GO:0016021 integral component of membrane IDA 21917916
GO:0030173 integral component of Golgi membrane IC 21917916
GO:0048471 perinuclear region of cytoplasm ISS 18985159
genes like me logo Genes that share ontologies with SLC39A13: view

Pathways for SLC39A13 Gene

SuperPathways for SLC39A13 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SLC39A13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006882 cellular zinc ion homeostasis ISS 18985159
GO:0030001 metal ion transport --
GO:0055085 transmembrane transport --
GO:0061448 connective tissue development IMP 18985159
GO:0071577 zinc II ion transmembrane transport ISS 18985159
genes like me logo Genes that share ontologies with SLC39A13: view

No data available for Pathways by source for SLC39A13 Gene

Transcripts for SLC39A13 Gene

Unigene Clusters for SLC39A13 Gene

Solute carrier family 39 (zinc transporter), member 13:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC39A13 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b · 14c ^ 15a · 15b ·
SP1: - - - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - -
SP4: - - - - - -
SP5: - - - - -
SP6: - - - - -
SP7: - - -
SP8: -
SP9: -
SP10: - - -
SP11: -
SP12:
SP13:
SP14:

ExUns: 15c ^ 16
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for SLC39A13 Gene

GeneLoc Exon Structure for
SLC39A13
ECgene alternative splicing isoforms for
SLC39A13

Expression for SLC39A13 Gene

mRNA expression in normal human tissues for SLC39A13 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SLC39A13 Gene

SOURCE GeneReport for Unigene cluster for SLC39A13 Gene Hs.523664

genes like me logo Genes that share expressions with SLC39A13: view

Orthologs for SLC39A13 Gene

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

Orthologs for SLC39A13 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC39A13 36
  • 97.89 (n)
  • 97.53 (a)
SLC39A13 37
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC39A13 36
  • 89.9 (n)
  • 90.63 (a)
SLC39A13 37
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC39A13 36
  • 91.83 (n)
  • 93.11 (a)
SLC39A13 37
  • 55 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc39a13 36
  • 87.53 (n)
  • 90.3 (a)
Slc39a13 16
Slc39a13 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC39A13 37
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC39A13 37
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc39a13 36
  • 88.1 (n)
  • 91.15 (a)
chicken
(Gallus gallus)
Aves SLC39A13 36
  • 69.25 (n)
  • 73.29 (a)
SLC39A13 37
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC39A13 37
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc39a13 36
  • 64.42 (n)
  • 69.36 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8902 36
zebrafish
(Danio rerio)
Actinopterygii slc39a13 36
  • 62.24 (n)
  • 62.79 (a)
slc39a13 37
  • 51 (a)
OneToOne
wufa55a07 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003300 36
  • 55.98 (n)
  • 52.76 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7816 36
  • 55.16 (n)
  • 53.52 (a)
CG7816 37
  • 43 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C14H10.1 36
  • 49.5 (n)
  • 45.9 (a)
C14H10.1 37
  • 35 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YKE4 37
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 49 (a)
OneToOne
Species with no ortholog for SLC39A13:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 SLC39A13 Gene

ENSEMBL:
Gene Tree for SLC39A13 (if available)
TreeFam:
Gene Tree for SLC39A13 (if available)

Paralogs for SLC39A13 Gene

genes like me logo Genes that share paralogs with SLC39A13: view

Variants for SLC39A13 Gene

Sequence variations from dbSNP and Humsavar for SLC39A13 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs12068 -- 47,416,313(-) GTCAG(A/C)CAAGG utr-variant-3-prime, intron-variant
rs755553 -- 47,410,752(-) GCATT(C/T)TTAGC intron-variant
rs755554 -- 47,410,483(-) TCAGA(C/G)ACTCT intron-variant
rs755555 -- 47,410,415(-) TGGGC(A/G)CCACC intron-variant
rs2053980 -- 47,416,731(-) CTGTC(G/T)CAAAA downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for SLC39A13 Gene

Variant ID Type Subtype PubMed ID
nsv897323 CNV Loss 21882294
nsv832141 CNV Loss 17160897
nsv825871 CNV Gain 20364138
nsv897325 CNV Loss 21882294

Relevant External Links for SLC39A13 Gene

HapMap Linkage Disequilibrium report
SLC39A13
Human Gene Mutation Database (HGMD)
SLC39A13

Disorders for SLC39A13 Gene

(1) OMIM Diseases for SLC39A13 Gene (608735)

UniProtKB/Swiss-Prot

S39AD_HUMAN
  • Ehlers-Danlos syndrome-like spondylocheirodysplasia (SCD-EDS) [MIM:612350]: Spondylocheiro dysplastic form of Ehlers-Danlos syndrome. The syndrome consists of a generalized skeletal dysplasia involving mainly the spine (spondylo) and striking clinical abnormalities of the hands (cheiro) in addition to the EDS-like features. Clinical features included postnatal growth retardation, moderate short stature, protuberant eyes with bluish sclerae, hands with finely wrinkled palms, atrophy of the thenar muscles, and tapering fingers. Patients have thin, hyperelastic skin and hypermobile small joints consistent with an Ehlers-Danlos-like phenotype. Radiologic features included mild to moderate platyspondyly, mild to moderate osteopenia of the spine, small ileum, flat proximal femoral epiphyses, short, wide femoral necks, and broad metaphyses (elbows, knees, wrists, and interphalangeal joints). {ECO:0000269 PubMed:18513683}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for SLC39A13 Gene

Relevant External Links for SLC39A13

Genetic Association Database (GAD)
SLC39A13
Human Genome Epidemiology (HuGE) Navigator
SLC39A13
genes like me logo Genes that share disorders with SLC39A13: view

Publications for SLC39A13 Gene

  1. Biochemical characterization of human ZIP13 protein: a homo-dimerized zinc transporter involved in the spondylocheiro dysplastic Ehlers- Danlos syndrome. (PMID: 21917916) Bin B.H. … Hirano T. (J. Biol. Chem. 2011) 3 4
  2. The LZT proteins; the LIV-1 subfamily of zinc transporters. (PMID: 12659941) Taylor K.M. … Nicholson R.I. (Biochim. Biophys. Acta 2003) 2 3
  3. Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome -- an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13. (PMID: 18513683) Giunta C. … Steinmann B. (Am. J. Hum. Genet. 2008) 3 4
  4. Polymorphisms in mitochondrial genes and prostate cancer risk. (PMID: 19064571) Wang L. … Thibodeau S.N. (Cancer Epidemiol. Biomarkers Prev. 2008) 3 49
  5. Mutational analysis of 12 patients with the phenotype of Ehlers-Danlos syndrome type VIB shows no linkage to the zinc transporter gene SLC39A13. (PMID: 21739577) Walker L.C. … Yeowell H.N. (Am. J. Med. Genet. A 2011) 3

Products for SLC39A13 Gene

Sources for SLC39A13 Gene

Back to Top

Content