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	IBA	21873635
GO:0001401	Component	SAM complex	IMP	15644312
GO:0005515	Function	Protein binding	IPI	21081504, 25416956, 27059175, 31644573, 32296183
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	IDA	15644312, 25781180
GO:0005741	Component	Mitochondrial outer membrane	IDA	15644312
GO:0007007	Process	Inner mitochondrial membrane organization	IC	26477565
GO:0016021	Component	Integral component of membrane	IBA	21873635
GO:0016021	Component	Integral component of membrane	IDA	15644312
GO:0033108	Process	Mitochondrial respiratory chain complex assembly	IBA	21873635
GO:0033108	Process	Mitochondrial respiratory chain complex assembly	IMP	22252321
GO:0034622	Process	Cellular protein-containing complex assembly	IBA	21873635
GO:0042407	Process	Cristae formation	IMP	22252321, 25781180
GO:0045040	Process	Protein insertion into mitochondrial outer membrane	IBA	21873635
GO:0045040	Process	Protein insertion into mitochondrial outer membrane	IDA	15644312
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

Causal
Disease term	Disease name	dbSNP ID	References
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	30054458

Unknown
Disease term	Disease name	Evidence	References	Source
Diabetes	Diabetes			GWAS
Hypogonadism	Hypogonadism			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
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