ENSG00000100347


Homo sapiens

Features
Gene ID: ENSG00000100347
  
Biological name :SAMM50
  
Synonyms : Q9Y512 / SAMM50 / SAMM50 sorting and assembly machinery component
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 22
Strand: 1
Band: q13.31
Gene start: 43955421
Gene end: 44010531
  
Corresponding Affymetrix probe sets: 201569_s_at (Human Genome U133 Plus 2.0 Array)   201570_at (Human Genome U133 Plus 2.0 Array)   230396_at (Human Genome U133 Plus 2.0 Array)   243239_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000345445
NCBI entrez gene - 25813     See in Manteia.
OMIM - 612058
RefSeq - NM_015380
RefSeq Peptide - NP_056195
swissprot - Q9Y512
Ensembl - ENSG00000100347
  
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
 samm50ENSDARG00000045814Danio rerio
 samm50lENSDARG00000039681Danio rerio
 SAMM50ENSGALG00000014194Gallus gallus
 Q8BGH2ENSMUSG00000022437Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR000184  Bacterial surface antigen (D15)
 IPR034746  POTRA domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0033108 mitochondrial respiratory chain complex assembly IMP
 biological_processGO:0042407 cristae formation IMP
 biological_processGO:0045040 protein import into mitochondrial outer membrane IDA
 cellular_componentGO:0001401 mitochondrial sorting and assembly machinery complex IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005741 mitochondrial outer membrane IDA
 cellular_componentGO:0005743 mitochondrial inner membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IDA
 cellular_componentGO:0019867 outer membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Mitochondrial protein import
Cristae formation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000173171 MTX1 / Q13505 / metaxin 1  / complex
 ENSG00000128654 MTX2 / O75431 / metaxin 2  / complex






 

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contact: otassy@igbmc.fr