Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	25813
Gene name	SAMM50 sorting and assembly machinery component
Gene symbol	SAMM50
Synonyms (NCBI Gene)	CGI-51OMP85SAM50TOB55TRG-3YNL026W
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]

Show/Hide all (11)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all (22)

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

MIM	HGNC	e!Ensembl
612058	24276	ENSG00000100347

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

Interactions

View interactions

	KEGG
	Mitophagy - animal

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Clear cell carcinoma of kidney	Uncertain significance	rs201341859	RCV005928881
Familial cancer of breast	Likely benign	rs143095808	RCV005904617
Hepatocellular carcinoma	Uncertain significance	rs754290245	RCV005939182
Ovarian serous cystadenocarcinoma	Uncertain significance	rs751747955	RCV005928988
Sarcoma	Likely benign	rs143095808	RCV005904618
Thymoma	Likely benign	rs143095808	RCV005904619
Thyroid cancer, nonmedullary, 1	Uncertain significance; Likely benign	rs201341859, rs143095808	RCV005928882 RCV005904620

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Hepatocellular	Associate	36499681
Fatty Liver	Associate	29271184, 33728819, 39638042
Fibrosis	Associate	23535911
Metabolic Syndrome	Associate	39638042
Non alcoholic Fatty Liver Disease	Associate	23535911, 24621583, 25776890, 29271184, 29307798, 31311600, 33728819, 34558842, 39638042

SAMM50 (SAMM50 sorting and assembly machinery component)