• Gene id: 25813

Gene Summary

• Gene Symbol: SAMM50   Gene   UCSC   Ensembl
• Aliases: CGI-51, OMP85, SAM50, TOB55, TRG-3, YNL026W
• Gene name: SAMM50 sorting and assembly machinery component
• Alternate names: sorting and assembly machinery component 50 homolog, sorting and assembly machinery 50kDa, transformation-related gene 3 protein,
• Gene location: 22q13.31 (43955441: 43996528)     Exons: 15     NC_000022.11
• Gene summary(Entrez): This gene encodes a component of the Sorting and Assembly Machinery (SAM) of the mitochondrial outer membrane. The Sam complex functions in the assembly of beta-barrel proteins into the outer mitochondrial membrane.[provided by RefSeq, Jun 2011]
• OMIM: 612058

Protein Summary

• Protein general information: Q9Y512  
  • Name: Sorting and assembly machinery component 50 homolog (Transformation related gene 3 protein) (TRG 3)
  • Length: 469  
  • Mass: 51976
• Sequence:

  MGTVHARSLEPLPSSGPDFGGLGEEAEFVEVEPEAKQEILENKDVVVQHVHFDGLGRTKDDIIICEIGDVFKAKN
  LIEVMRKSHEAREKLLRLGIFRQVDVLIDTCQGDDALPNGLDVTFEVTELRRLTGSYNTMVGNNEGSMVLGLKLP
  NLLGRAEKVTFQFSYGTKETSYGLSFFKPRPGNFERNFSVNLYKVTGQFPWSSLRETDRGMSAEYSFPIWKTSHT
  VKWEGVWRELGCLSRTASFAVRKESGHSLKSSLSHAMVIDSRNSSILPRRGALLKVNQELAGYTGGDVSFIKEDF
  ELQLNKQLIFDSVFSASFWGGMLVPIGDKPSSIADRFYLGGPTSIRGFSMHSIGPQSEGDYLGGEAYWAGGLHLY
  TPLPFRPGQGGFGELFRTHFFLNAGNLCNLNYGEGPKAHIRKLAECIRWSYGAGIVLRLGNIARLELNYCVPMGV
  QTGDRICDGVQFGAGIRFL

• Structural information:
  • Protein Domains: (45..12-)
    (/note="POTRA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01115"-)
  • Interpro: IPR000184  IPR039910  IPR034746  
  • Prosite: PS51779
  • STRING: ENSP00000345445
• Other Databases: GeneCards:  SAMM50  Malacards:  SAMM50

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033108	mitochondrial respiratory chain complex assembly	IBA	biological process
GO:0001401	SAM complex	IBA	cellular component
GO:0016021	integral component of membrane	IBA	cellular component
GO:0034622	cellular protein-containing complex assembly	IBA	biological process
GO:0045040	protein insertion into mitochondrial outer membrane	IBA	biological process
GO:0065003	protein-containing complex assembly	IBA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0033108	mitochondrial respiratory chain complex assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0042407	cristae formation	IMP	biological process
GO:0042407	cristae formation	IMP	biological process
GO:0019867	outer membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0005741	mitochondrial outer membrane	IDA	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0045040	protein insertion into mitochondrial outer membrane	IDA	biological process
GO:0001401	SAM complex	IMP	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0007007	inner mitochondrial membrane organization	IC	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005739	mitochondrion	HDA	cellular component
GO:0140275	MIB complex	HDA	cellular component
GO:0001401	SAM complex	HDA	cellular component

Diseases

Associated diseases	References
Non-alcoholic fatty liver disease	PMID:26740948
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq