ENSG00000144659


Homo sapiens

Features
Gene ID: ENSG00000144659
  
Biological name :SLC25A38
  
Synonyms : Q96DW6 / SLC25A38 / solute carrier family 25 member 38
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: 1
Band: p22.1
Gene start: 39383324
Gene end: 39397351
  
Corresponding Affymetrix probe sets: 217961_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000494342
Ensembl peptide - ENSP00000496690
Ensembl peptide - ENSP00000495376
Ensembl peptide - ENSP00000494532
Ensembl peptide - ENSP00000273158
Ensembl peptide - ENSP00000394244
Ensembl peptide - ENSP00000493714
NCBI entrez gene - 54977     See in Manteia.
OMIM - 610819
RefSeq - XM_006713214
RefSeq - XM_017006710
RefSeq - NM_017875
RefSeq - XM_011533869
RefSeq Peptide - NP_060345
swissprot - Q96DW6
swissprot - C9JT44
swissprot - A0A024R2L5
Ensembl - ENSG00000144659
  
Related genetic diseases (OMIM): 205950 - Anemia, sideroblastic, 2, pyridoxine-refractory, 205950
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
 P0CAT2ENSDARG00000074533Danio rerio
 Q08CI8ENSDARG00000059805Danio rerio
 SLC25A38ENSGALG00000041275Gallus gallus
 Q91XD8ENSMUSG00000032519Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR018108  Mitochondrial substrate/solute carrier
 IPR023395  Mitochondrial carrier domain superfamily
 IPR030847  Mitochondrial glycine transporter Hem25/SLC25A38


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006783 heme biosynthetic process TAS
 biological_processGO:0006839 mitochondrial transport IBA
 biological_processGO:0030218 erythrocyte differentiation IEA
 biological_processGO:1904983 glycine import into mitochondrion IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005743 mitochondrial inner membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0015187 glycine transmembrane transporter activity IEA


Pathways (from Reactome)
Pathway description
No match


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:0001425 Heterogeneous 
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 HP:0001903 Anemia 
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 HP:0003281 Increased serum ferritin 
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 HP:0003593 Early onset 
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 HP:0025066 Decreased mean corpuscular volume "A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters)." []
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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