SAMM50

Functionⁱ

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 complex (PubMed:15644312).3 Publications

GO - Biological processⁱ

cristae formation
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 22252321
- 25781180
mitochondrial respiratory chain complex assembly
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 22252321
protein import into mitochondrial outer membrane
Source: BHF-UCL
Inferred from direct assayⁱ
- 15644312

View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

Reactomeⁱ	R-HSA-1268020 Mitochondrial protein import R-HSA-8949613 Cristae formation

Reactomeⁱ

R-HSA-1268020 Mitochondrial protein import
R-HSA-8949613 Cristae formation

Protein family/group databases

TCDBⁱ	1.B.33.3.4 the outer membrane protein insertion porin (bam complex) (ompip) family

TCDBⁱ

1.B.33.3.4 the outer membrane protein insertion porin (bam complex) (ompip) family

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Sorting and assembly machinery component 50 homolog Alternative name(s): Transformation-related gene 3 protein Short name: TRG-3
Gene namesⁱ	Name:SAMM50 Synonyms:SAM50 ORF Names:CGI-51, TRG3
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 22

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000100347.14
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:24276 SAMM50
MIMⁱ	612058 gene
neXtProtⁱ	NX_Q9Y512

Keywords - Cellular componentⁱ

Cytoplasm, Membrane, Mitochondrion, Mitochondrion outer membrane

Pathology & Biotechⁱ

Organism-specific databases

DisGeNET More...DisGeNETⁱ	25813
Open Targets More...OpenTargetsⁱ	ENSG00000100347
PharmGKBⁱ	PA142670954

Polymorphism and mutation databases

BioMutaⁱ	SAMM50
DMDMⁱ	118572715

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000215939	1 – 469	Sorting and assembly machinery component 50 homologAdd BLAST		469

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Modified residueⁱ	255	N6-methyllysineCombined sources		1

Keywords - PTMⁱ

Methylation

Proteomic databases

EPDⁱ	Q9Y512
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q9Y512
PaxDbⁱ	Q9Y512
PeptideAtlas More...PeptideAtlasⁱ	Q9Y512
PRIDEⁱ	Q9Y512
ProteomicsDBⁱ	86271

PTM databases

iPTMnetⁱ	Q9Y512
PhosphoSitePlusⁱ	Q9Y512
SwissPalmⁱ	Q9Y512

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000100347 Expressed in 231 organ(s), highest expression level in muscle of leg
CleanExⁱ	HS_SAMM50
Genevisibleⁱ	Q9Y512 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA034537

HPAⁱ

HPA034537

Interactionⁱ

Subunit structureⁱ

Associates with the mitochondrial contact site and cristae organizing system (MICOS) complex, composed of at least MINOS1/MIC10, CHCHD3/MIC19, CHCHD6/MIC25, APOOL/MIC27, IMMT/MIC60, APOO/MIC23/MIC26 and QIL1/MIC13 (PubMed:25781180, PubMed:25997101). This complex was also known under the names MINOS or MitOS complex. The MICOS complex associates with mitochondrial outer membrane proteins SAMM50, MTX1 and MTX2 (together described as components of the mitochondrial outer membrane sorting assembly machinery (SAM) complex) and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9 (PubMed:25781180, PubMed:25997101). The MICOS and SAM complexes together with DNAJC11 are part of a large protein complex spanning both membranes termed the mitochondrial intermembrane space bridging (MIB) complex (PubMed:25997101). Interacts with CHCHD3/MIC19 (PubMed:21081504).5 Publications

Binary interactionsⁱ

With	Entry	#Exp.	IntAct
CHCHD3	Q9NX63	5	EBI-748409,EBI-743375
DNM1L	O00429	3	EBI-748409,EBI-724571
MFN2	O95140	2	EBI-748409,EBI-3324756

Protein-protein interaction databases

BioGridⁱ	117342, 40 interactors
CORUMⁱ	Q9Y512
IntActⁱ	Q9Y512, 26 interactors
Molecular INTeraction database More...MINTⁱ	Q9Y512
STRINGⁱ	9606.ENSP00000345445

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q9Y512
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	45 – 125	POTRAPROSITE-ProRule annotationAdd BLAST		81

Domainⁱ

Its C-terminal part seems to contain many membrane-spanning sided beta-sheets, that have the potential to adopt a transmembrane beta-barrel type structure.By similarity

Sequence similaritiesⁱ

Belongs to the SAM50/omp85 family.Curated

Keywords - Domainⁱ

Transmembrane, Transmembrane beta strand

Phylogenomic databases

eggNOGⁱ	KOG2602 Eukaryota COG4775 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000011355
HOVERGENⁱ	HBG054614
InParanoidⁱ	Q9Y512
KEGG Orthology (KO) More...KOⁱ	K07277
OMAⁱ	KIDQRNS
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0IAD
PhylomeDBⁱ	Q9Y512
TreeFamⁱ	TF106126

Family and domain databases

InterProⁱ	View protein in InterPro IPR000184 Bac_surfAg_D15 IPR039910 D15-like IPR034746 POTRA
PANTHERⁱ	PTHR12815 PTHR12815, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF01103 Bac_surface_Ag, 1 hit
PROSITEⁱ	View protein in PROSITE PS51779 POTRA, 1 hit

Sequenceⁱ

Sequence statusⁱ: Complete.

Q9Y512-1 [UniParc]FASTA Add to basket

« Hide

        10         20         30         40         50
MGTVHARSLE PLPSSGPDFG GLGEEAEFVE VEPEAKQEIL ENKDVVVQHV 
        60         70         80         90        100
HFDGLGRTKD DIIICEIGDV FKAKNLIEVM RKSHEAREKL LRLGIFRQVD 
       110        120        130        140        150
VLIDTCQGDD ALPNGLDVTF EVTELRRLTG SYNTMVGNNE GSMVLGLKLP 
       160        170        180        190        200
NLLGRAEKVT FQFSYGTKET SYGLSFFKPR PGNFERNFSV NLYKVTGQFP 
       210        220        230        240        250
WSSLRETDRG MSAEYSFPIW KTSHTVKWEG VWRELGCLSR TASFAVRKES 
       260        270        280        290        300
GHSLKSSLSH AMVIDSRNSS ILPRRGALLK VNQELAGYTG GDVSFIKEDF 
       310        320        330        340        350
ELQLNKQLIF DSVFSASFWG GMLVPIGDKP SSIADRFYLG GPTSIRGFSM 
       360        370        380        390        400
HSIGPQSEGD YLGGEAYWAG GLHLYTPLPF RPGQGGFGEL FRTHFFLNAG 
       410        420        430        440        450
NLCNLNYGEG PKAHIRKLAE CIRWSYGAGI VLRLGNIARL ELNYCVPMGV 
       460 
QTGDRICDGV QFGAGIRFL

Length:469

Mass (Da):51,976

Last modified:November 28, 2006 - v3

Checksum:ⁱ4F686FB7ACB08DEF

GO

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	10	E → G in BAD96377 (Ref. 5) Curated	1
Sequence conflictⁱ	368 – 372	WAGGL → LGRRW in AAD34046 (PubMed:10810093).Curated	5
Sequence conflictⁱ	371	Missing in AAH07830 (PubMed:15489334).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_057338	110	D → G1 PublicationCorresponds to variant dbSNP:rs3761472Ensembl.		1
Natural variantⁱVAR_013768	345	I → V2 PublicationsCorresponds to variant dbSNP:rs8418Ensembl.		1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF151809 mRNA Translation: AAD34046.1 AY189688 mRNA Translation: AAO85221.1 AK001087 mRNA Translation: BAA91498.1 CR456483 mRNA Translation: CAG30369.1 AK222657 mRNA Translation: BAD96377.1 AL035398 Genomic DNA No translation available. CH471138 Genomic DNA Translation: EAW73326.1 BC007830 mRNA Translation: AAH07830.1 BC011681 mRNA Translation: AAH11681.1 BC015200 mRNA Translation: AAH15200.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS14055.1
NCBI Reference Sequences More...RefSeqⁱ	NP_056195.3, NM_015380.4
UniGeneⁱ	Hs.505824

Genome annotation databases

Ensemblⁱ	ENST00000350028; ENSP00000345445; ENSG00000100347
GeneIDⁱ	25813
KEGGⁱ	hsa:25813
UCSC genome browser More...UCSCⁱ	uc003bej.4 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9Y512	Sorting and assembly machinery component 50 homolog		MOUSE		469	UniRef90_Q9Y512
Sorting and assembly machinery component 50 homolog		RAT		469
sorting and assembly machinery component 50 homolog		TURTR		485
Sorting and assembly machinery component 50 homolog (Fragment)		NEOVI		477
Uncharacterized protein		Cebus capucinus imitator		472
+120

Protein	Similar proteins		Species	Score	Length	Source
Q9Y512	Sorting and assembly machinery component 50 homolog		RAT		469	UniRef50_Q9Y512
Sorting and assembly machinery component 50 homolog		MOUSE		469
Sorting and assembly machinery component 50 homolog		BOVIN		469
sorting and assembly machinery component 50 homolog		TURTR		485
Sorting and assembly machinery component 50 homolog (Fragment)		NEOVI		477
+352

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF151809 mRNA Translation: AAD34046.1 AY189688 mRNA Translation: AAO85221.1 AK001087 mRNA Translation: BAA91498.1 CR456483 mRNA Translation: CAG30369.1 AK222657 mRNA Translation: BAD96377.1 AL035398 Genomic DNA No translation available. CH471138 Genomic DNA Translation: EAW73326.1 BC007830 mRNA Translation: AAH07830.1 BC011681 mRNA Translation: AAH11681.1 BC015200 mRNA Translation: AAH15200.1
CCDSⁱ	CCDS14055.1
RefSeqⁱ	NP_056195.3, NM_015380.4
UniGeneⁱ	Hs.505824

3D structure databases

ProteinModelPortalⁱ	Q9Y512
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	117342, 40 interactors
CORUMⁱ	Q9Y512
IntActⁱ	Q9Y512, 26 interactors
MINTⁱ	Q9Y512
STRINGⁱ	9606.ENSP00000345445

Protein family/group databases

TCDBⁱ	1.B.33.3.4 the outer membrane protein insertion porin (bam complex) (ompip) family

TCDBⁱ

1.B.33.3.4 the outer membrane protein insertion porin (bam complex) (ompip) family

PTM databases

iPTMnetⁱ	Q9Y512
PhosphoSitePlusⁱ	Q9Y512
SwissPalmⁱ	Q9Y512

Polymorphism and mutation databases

BioMutaⁱ	SAMM50
DMDMⁱ	118572715

Proteomic databases

EPDⁱ	Q9Y512
MaxQBⁱ	Q9Y512
PaxDbⁱ	Q9Y512
PeptideAtlasⁱ	Q9Y512
PRIDEⁱ	Q9Y512
ProteomicsDBⁱ	86271

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	25813
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000350028; ENSP00000345445; ENSG00000100347
GeneIDⁱ	25813
KEGGⁱ	hsa:25813
UCSCⁱ	uc003bej.4 human

Organism-specific databases

CTDⁱ	25813
DisGeNETⁱ	25813
EuPathDBⁱ	HostDB:ENSG00000100347.14
GeneCardsⁱ	SAMM50
HGNCⁱ	HGNC:24276 SAMM50
HPAⁱ	HPA034537
MIMⁱ	612058 gene
neXtProtⁱ	NX_Q9Y512
OpenTargetsⁱ	ENSG00000100347
PharmGKBⁱ	PA142670954
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG2602 Eukaryota COG4775 LUCA
GeneTreeⁱ	ENSGT00390000011355
HOVERGENⁱ	HBG054614
InParanoidⁱ	Q9Y512
KOⁱ	K07277
OMAⁱ	KIDQRNS
OrthoDBⁱ	EOG091G0IAD
PhylomeDBⁱ	Q9Y512
TreeFamⁱ	TF106126

Enzyme and pathway databases

Reactomeⁱ	R-HSA-1268020 Mitochondrial protein import R-HSA-8949613 Cristae formation

Reactomeⁱ

R-HSA-1268020 Mitochondrial protein import
R-HSA-8949613 Cristae formation

Miscellaneous databases

ChiTaRSⁱ	SAMM50 human
GeneWikiⁱ	SAMM50
GenomeRNAiⁱ	25813
Protein Ontology More...PROⁱ	PR:Q9Y512
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000100347 Expressed in 231 organ(s), highest expression level in muscle of leg
CleanExⁱ	HS_SAMM50
Genevisibleⁱ	Q9Y512 HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR000184 Bac_surfAg_D15 IPR039910 D15-like IPR034746 POTRA
PANTHERⁱ	PTHR12815 PTHR12815, 1 hit
Pfamⁱ	View protein in Pfam PF01103 Bac_surface_Ag, 1 hit
PROSITEⁱ	View protein in PROSITE PS51779 POTRA, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	SAM50_HUMAN
Accessionⁱ	Q9Y512Primary (citable) accession number: Q9Y512 Secondary accession number(s): Q53HC4 , Q56VW7, Q969Y9, Q96I46, Q9NW85, Q9UQM9
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	January 24, 2001
	Last sequence update:	November 28, 2006
	Last modified:	November 7, 2018
	This is version 155 of the entry and version 3 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
Human chromosome 22
Human chromosome 22: entries, gene names and cross-references to MIM

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UniProtKB - Q9Y512 (SAM50_HUMAN)

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Sorting and assembly machinery component 50 homolog

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

Protein family/group databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Mitochondrion

Other locations

Extracellular region or secreted

Mitochondrion

Other locations

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Protein family/group databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ