SAMM50 (SAMM50 sorting and assembly machinery component)

Gene

• Entrez ID: 25813
• Gene name: SAMM50 sorting and assembly machinery component
• Gene symbol: SAMM50
• Synonyms (NCBI Gene): CGI-51, OMP85, SAM50, TOB55, TRG-3, YNL026W
• Chromosome: 22
• Chromosome location: 22q13.31
• Summary: 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]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1325689	hsa-miR-1260	CLIP-seq
MIRT1325690	hsa-miR-1260b	CLIP-seq
MIRT1325691	hsa-miR-186	CLIP-seq
MIRT1325692	hsa-miR-188-3p	CLIP-seq
MIRT1325693	hsa-miR-3156-3p	CLIP-seq
MIRT2096611	hsa-miR-147	CLIP-seq
MIRT2096612	hsa-miR-3622b-5p	CLIP-seq
MIRT2096613	hsa-miR-3650	CLIP-seq
MIRT2096614	hsa-miR-3688-5p	CLIP-seq
MIRT2096615	hsa-miR-3911	CLIP-seq
MIRT2096616	hsa-miR-644	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001401	Component	SAM complex	HDA	26477565
GO:0001401	Component	SAM complex	IMP	15644312
GO:0001401	Component	SAM complex	IPI	17510655
GO:0005515	Function	Protein binding	IPI	21081504, 25416956, 27059175, 31644573, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	15644312, 25781180
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IDA	15644312
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005741	Component	Mitochondrial outer membrane	NAS	31387448
GO:0007007	Process	Inner mitochondrial membrane organization	IC	26477565
GO:0016020	Component	Membrane	IDA	15644312
GO:0016020	Component	Membrane	IEA
GO:0019867	Component	Outer membrane	IEA
GO:0030150	Process	Protein import into mitochondrial matrix	IDA	15644312
GO:0042407	Process	Cristae formation	IMP	22252321, 25781180
GO:0045040	Process	Protein insertion into mitochondrial outer membrane	IBA
GO:0045040	Process	Protein insertion into mitochondrial outer membrane	NAS	31387448
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0140275	Component	MIB complex	HDA	26477565

Other IDs

• MIM: 612058
• HGNC: 24276
• e!Ensembl: ENSG00000100347

Protein

• UniProt ID: Q9Y512
• Protein name: Sorting and assembly machinery component 50 homolog (Transformation-related gene 3 protein) (TRG-3)
• Protein function: Plays a crucial role in the maintenance of the structure of mitochondrial cristae and the proper assembly of the mitochondrial respiratory chain complexes (PubMed:22252321, PubMed:25781180). Required for the assembly of TOMM40 into the TOM compl
• PDB: 6YOO, 6YOP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01103	Omp85	151 → 468	Omp85 superfamily domain	Domain

• Sequence:

  MGTVHARSLEPLPSSGPDFGGLGEEAEFVEVEPEAKQEILENKDVVVQHVHFDGLGRTKD
  DIIICEIGDVFKAKNLIEVMRKSHEAREKLLRLGIFRQVDVLIDTCQGDDALPNGLDVTF
  EVTELRRLTGSYNTMVGNNEGSMVLGLKLPNLLGRAEKVTFQFSYGTKETSYGLSFFKPR
  PGNFERNFSVNLYKVTGQFPWSSLRETDRGMSAEYSFPIWKTSHTVKWEGVWRELGCLSR
  TASFAVRKESGHSLKSSLSHAMVIDSRNSSILPRRGALLKVNQELAGYTGGDVSFIKEDF
  ELQLNKQLIFDSVFSASFWGGMLVPIGDKPSSIADRFYLGGPTSIRGFSMHSIGPQSEGD
  YLGGEAYWAGGLHLYTPLPFRPGQGGFGELFRTHFFLNAGNLCNLNYGEGPKAHIRKLAE
  CIRWSYGAGIVLRLGNIARLELNYCVPMGVQTGDRICDGVQFGAGIRFL

• Sequence length: 469

Pathways

KEGG:

Mitophagy - animal

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPOGONADISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC STEATOHEPATITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONALCOHOLIC STEATOHEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36499681	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28007909		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30054458		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	29271184, 33728819, 39638042	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	GWASDB_DG	23477746		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	26352879		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	GWASCAT_DG	29385134		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	39638042	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	28007909		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25519018, 28608017, 28728151, 29343409, 30227434, 31197828		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	GWASCAT_DG	22719876, 29271184, 29385134		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	GWASDB_DG	22719876, 23535911		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	23535911, 24621583, 29271184		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	GWASCAT_DG	29385134		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Steatohepatitis	Fatty Liver	BEFREE	26352879		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	GWASCAT_DG	29385134		★☆☆☆☆ Found in Text Mining only