ENSG00000139540


Homo sapiens

Features
Gene ID: ENSG00000139540
  
Biological name :SLC39A5
  
Synonyms : Q6ZMH5 / SLC39A5 / solute carrier family 39 member 5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q13.3
Gene start: 56230049
Gene end: 56237846
  
Corresponding Affymetrix probe sets: 1552281_at (Human Genome U133 Plus 2.0 Array)   231667_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000266980
Ensembl peptide - ENSP00000414868
Ensembl peptide - ENSP00000407399
Ensembl peptide - ENSP00000405360
Ensembl peptide - ENSP00000404155
Ensembl peptide - ENSP00000402891
Ensembl peptide - ENSP00000391711
NCBI entrez gene - 283375     See in Manteia.
OMIM - 608730
RefSeq - XM_005268803
RefSeq - XM_017019186
RefSeq - XM_017019185
RefSeq - XM_011538201
RefSeq - XM_011538200
RefSeq - NM_001135195
RefSeq - NM_173596
RefSeq - XM_017019187
RefSeq - XM_011538198
RefSeq - XM_011538199
RefSeq Peptide - NP_775867
RefSeq Peptide - NP_001128667
swissprot - Q6ZMH5
swissprot - C9JVC6
swissprot - A0A024RB24
swissprot - C9JB28
swissprot - C9JIB2
swissprot - C9JPS5
swissprot - C9JPS6
Ensembl - ENSG00000139540
  
Related genetic diseases (OMIM): 615946 - Myopia 24, autosomal dominant, 615946
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 slc39a5ENSDARG00000079525Danio rerio
 ENSGALG00000046197Gallus gallus
 Q9D856ENSMUSG00000039878Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9ULF5 / SLC39A10 / solute carrier family 39 member 10ENSG0000019695034
Q13433 / SLC39A6 / solute carrier family 39 member 6ENSG0000014142430
Q6P5W5 / SLC39A4 / solute carrier family 39 member 4ENSG0000014780430
Q504Y0 / SLC39A12 / solute carrier family 39 member 12ENSG0000014848225
Q9C0K1 / SLC39A8 / solute carrier family 39 member 8ENSG0000013882122
Q15043 / SLC39A14 / solute carrier family 39 member 14ENSG0000010463521
Q92504 / SLC39A7 / solute carrier family 39 member 7ENSG0000011247320
Q96H72 / SLC39A13 / solute carrier family 39 member 13ENSG0000016591516


Protein motifs (from Interpro)
Interpro ID Name
 IPR003689  Zinc/iron permease


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001654 eye development IMP
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006829 zinc ion transport IEA
 biological_processGO:0006882 cellular zinc ion homeostasis IBA
 biological_processGO:0030001 metal ion transport IEA
 biological_processGO:0030509 BMP signaling pathway IMP
 biological_processGO:0034224 cellular response to zinc ion starvation IEA
 biological_processGO:0048026 positive regulation of mRNA splicing, via spliceosome IEA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0061351 neural precursor cell proliferation ISS
 biological_processGO:0070315 G1 to G0 transition involved in cell differentiation ISS
 biological_processGO:0071578 zinc ion import across plasma membrane IBA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005887 integral component of plasma membrane IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003674 molecular_function ND
 molecular_functionGO:0005385 zinc ion transmembrane transporter activity IBA
 molecular_functionGO:0046873 metal ion transmembrane transporter activity IEA


Pathways (from Reactome)
Pathway description
Zinc influx into cells by the SLC39 gene family


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000545 Myopia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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