ENSG00000164933


Homo sapiens

Features
Gene ID: ENSG00000164933
  
Biological name :SLC25A32
  
Synonyms : Q9H2D1 / SLC25A32 / solute carrier family 25 member 32
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: -1
Band: q22.3
Gene start: 103398635
Gene end: 103415189
  
Corresponding Affymetrix probe sets: 221020_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000297578
Ensembl peptide - ENSP00000430989
Ensembl peptide - ENSP00000430371
Ensembl peptide - ENSP00000427737
NCBI entrez gene - 81034     See in Manteia.
OMIM - 610815
RefSeq - XM_017013877
RefSeq - NM_030780
RefSeq Peptide - NP_110407
swissprot - E5RFL3
swissprot - A0A024R9D0
swissprot - E5RGT9
swissprot - Q9H2D1
swissprot - E5RGK5
Ensembl - ENSG00000164933
  
Related genetic diseases (OMIM): 616839 - ?Exercise intolerance, riboflavin-responsive, 616839
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
 slc25a32aENSDARG00000089791Danio rerio
 slc25a32bENSDARG00000026835Danio rerio
 SLC25A32ENSGALG00000039882Gallus gallus
 Q8BMG8ENSMUSG00000022299Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR002030  Mitochondrial carrier UCP-like
 IPR018108  Mitochondrial substrate/solute carrier
 IPR023395  Mitochondrial carrier domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006544 glycine metabolic process ISS
 biological_processGO:0006839 mitochondrial transport IBA
 biological_processGO:0015884 folic acid transport NAS
 biological_processGO:0035350 FAD transmembrane transport IEA
 biological_processGO:0046655 folic acid metabolic process TAS
 biological_processGO:1904947 folate import into mitochondrion ISS
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005743 mitochondrial inner membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031966 mitochondrial membrane IEA
 molecular_functionGO:0008517 folic acid transmembrane transporter activity TAS
 molecular_functionGO:0015230 FAD transmembrane transporter activity IBA


Pathways (from Reactome)
Pathway description
Metabolism of folate and pterines


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0003200 Ragged-red muscle fibers "An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome (GT) staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged." [HPO:curators]
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 HP:0003546 Exercise intolerance 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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