ENSG00000132517


Homo sapiens

Features
Gene ID: ENSG00000132517
  
Biological name :SLC52A1
  
Synonyms : Q9NWF4 / SLC52A1 / solute carrier family 52 member 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: -1
Band: p13.2
Gene start: 5032600
Gene end: 5052009
  
Corresponding Affymetrix probe sets: 220756_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000254853
Ensembl peptide - ENSP00000399979
Ensembl peptide - ENSP00000443026
NCBI entrez gene - 55065     See in Manteia.
OMIM - 607883
RefSeq - XM_011523951
RefSeq - NM_001104577
RefSeq - NM_017986
RefSeq Peptide - NP_001098047
RefSeq Peptide - NP_060456
swissprot - Q9NWF4
swissprot - F5H5Y1
Ensembl - ENSG00000132517
  
Related genetic diseases (OMIM): 615026 - Riboflavin deficiency, 615026
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
 slc52a2ENSDARG00000102035Danio rerio


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9HAB3 / SLC52A2 / solute carrier family 52 member 2ENSG0000018580386
Q9NQ40 / SLC52A3 / solute carrier family 52 member 3ENSG0000010127641


Protein motifs (from Interpro)
Interpro ID Name
 IPR009357  Solute carrier family 52, riboflavin transporter


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006771 riboflavin metabolic process TAS
 biological_processGO:0032218 riboflavin transport IDA
 biological_processGO:0046718 viral entry into host cell IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0001618 virus receptor activity IEA
 molecular_functionGO:0032217 riboflavin transmembrane transporter activity TAS


Pathways (from Reactome)
Pathway description
Vitamin B2 (riboflavin) metabolism


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:0001942 Metabolic acidosis 
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 HP:0001943 Hypoglycemia "A lower than normal level of blood glucose." [HPO:curators]
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 HP:0002033 Poor suck "An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed." [HPO:curators]
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 HP:0003215 Dicarboxylic aciduria 
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 HP:0045045 Elevated plasma acylcarnitine levels 
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 HP:0100504 Vitamin B2 deficiency 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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