UniProtKB - Q9Y512 (SAM50_HUMAN)
Sorting and assembly machinery component 50 homolog
SAMM50
Functioni
GO - Biological processi
- cellular protein-containing complex assembly Source: GO_Central
- cristae formation Source: UniProtKB
- inner mitochondrial membrane organization Source: UniProtKB
- mitochondrial respiratory chain complex assembly Source: UniProtKB
- protein-containing complex assembly Source: GO_Central
- protein insertion into mitochondrial outer membrane Source: BHF-UCL
Enzyme and pathway databases
PathwayCommonsi | Q9Y512 |
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 |
Names & Taxonomyi
Protein namesi | Recommended name: Sorting and assembly machinery component 50 homologAlternative 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 | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:24276, SAMM50 |
MIMi | 612058, gene |
neXtProti | NX_Q9Y512 |
VEuPathDBi | HostDB:ENSG00000100347.14 |
Subcellular locationi
Mitochondrion
- Mitochondrion outer membrane 1 Publication; Multi-pass membrane protein
- Mitochondrion 1 Publication
Other locations
- Cytoplasm By similarity
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Mitochondrion
- MIB complex Source: UniProtKB
- mitochondrial outer membrane Source: BHF-UCL
- mitochondrion Source: UniProtKB
- SAM complex Source: BHF-UCL
Other locations
- integral component of membrane Source: BHF-UCL
Keywords - Cellular componenti
Cytoplasm, Membrane, Mitochondrion, Mitochondrion outer membranePathology & Biotechi
Organism-specific databases
DisGeNETi | 25813 |
OpenTargetsi | ENSG00000100347 |
PharmGKBi | PA142670954 |
Miscellaneous databases
Pharosi | Q9Y512, Tbio |
Genetic variation 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
MethylationProteomic databases
EPDi | Q9Y512 |
jPOSTi | Q9Y512 |
MassIVEi | Q9Y512 |
MaxQBi | Q9Y512 |
PaxDbi | Q9Y512 |
PeptideAtlasi | Q9Y512 |
PRIDEi | Q9Y512 |
ProteomicsDBi | 86271 |
PTM databases
iPTMneti | Q9Y512 |
PhosphoSitePlusi | Q9Y512 |
SwissPalmi | Q9Y512 |
Expressioni
Gene expression databases
Bgeei | ENSG00000100347, Expressed in muscle of leg and 241 other tissues |
Genevisiblei | Q9Y512, HS |
Organism-specific databases
HPAi | ENSG00000100347, Low tissue specificity |
Interactioni
Subunit structurei
Associates with the mitochondrial contact site and cristae organizing system (MICOS) complex, composed of at least MICOS10/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).
Interacts with ARMC1 (PubMed:31644573).
6 PublicationsBinary interactionsi
Hide detailsQ9Y512
With | #Exp. | IntAct |
---|---|---|
CHCHD3 [Q9NX63] | 6 | EBI-748409,EBI-743375 |
CHCHD6 [Q9BRQ6] | 3 | EBI-748409,EBI-2557895 |
DNM1L [O00429] | 3 | EBI-748409,EBI-724571 |
MFN2 [O95140] | 2 | EBI-748409,EBI-3324756 |
Protein-protein interaction databases
BioGRIDi | 117342, 76 interactors |
ComplexPortali | CPX-6133, SAM mitochondrial sorting and assembly machinery complex |
CORUMi | Q9Y512 |
IntActi | Q9Y512, 34 interactors |
MINTi | Q9Y512 |
STRINGi | 9606.ENSP00000345445 |
Miscellaneous databases
RNActi | Q9Y512, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 45 – 125 | POTRAPROSITE-ProRule annotationAdd BLAST | 81 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane beta strandPhylogenomic databases
eggNOGi | KOG2602, Eukaryota |
GeneTreei | ENSGT00390000011355 |
HOGENOMi | CLU_014798_3_0_1 |
InParanoidi | Q9Y512 |
OMAi | EAANPIT |
OrthoDBi | 844748at2759 |
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 |
Pfami | View protein in Pfam PF01103, Omp85, 1 hit |
PROSITEi | View protein in PROSITE PS51779, POTRA, 1 hit |
i Sequence
Sequence statusi: Complete.
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
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | 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 |
CCDSi | CCDS14055.1 |
RefSeqi | NP_056195.3, NM_015380.4 |
Genome annotation databases
Ensembli | ENST00000350028; ENSP00000345445; ENSG00000100347 |
GeneIDi | 25813 |
KEGGi | hsa:25813 |
UCSCi | uc003bej.4, human |
Similar proteinsi
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 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 117342, 76 interactors |
ComplexPortali | CPX-6133, SAM mitochondrial sorting and assembly machinery complex |
CORUMi | Q9Y512 |
IntActi | Q9Y512, 34 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 |
PTM databases
iPTMneti | Q9Y512 |
PhosphoSitePlusi | Q9Y512 |
SwissPalmi | Q9Y512 |
Genetic variation databases
BioMutai | SAMM50 |
DMDMi | 118572715 |
Proteomic databases
EPDi | Q9Y512 |
jPOSTi | Q9Y512 |
MassIVEi | Q9Y512 |
MaxQBi | Q9Y512 |
PaxDbi | Q9Y512 |
PeptideAtlasi | Q9Y512 |
PRIDEi | Q9Y512 |
ProteomicsDBi | 86271 |
Protocols and materials databases
Antibodypediai | 27584, 170 antibodies |
DNASUi | 25813 |
Genome annotation databases
Ensembli | ENST00000350028; ENSP00000345445; ENSG00000100347 |
GeneIDi | 25813 |
KEGGi | hsa:25813 |
UCSCi | uc003bej.4, human |
Organism-specific databases
CTDi | 25813 |
DisGeNETi | 25813 |
GeneCardsi | SAMM50 |
HGNCi | HGNC:24276, SAMM50 |
HPAi | ENSG00000100347, Low tissue specificity |
MIMi | 612058, gene |
neXtProti | NX_Q9Y512 |
OpenTargetsi | ENSG00000100347 |
PharmGKBi | PA142670954 |
VEuPathDBi | HostDB:ENSG00000100347.14 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2602, Eukaryota |
GeneTreei | ENSGT00390000011355 |
HOGENOMi | CLU_014798_3_0_1 |
InParanoidi | Q9Y512 |
OMAi | EAANPIT |
OrthoDBi | 844748at2759 |
PhylomeDBi | Q9Y512 |
TreeFami | TF106126 |
Enzyme and pathway databases
PathwayCommonsi | Q9Y512 |
Reactomei | R-HSA-1268020, Mitochondrial protein import R-HSA-8949613, Cristae formation |
Miscellaneous databases
BioGRID-ORCSi | 25813, 477 hits in 882 CRISPR screens |
ChiTaRSi | SAMM50, human |
GeneWikii | SAMM50 |
GenomeRNAii | 25813 |
Pharosi | Q9Y512, Tbio |
PROi | PR:Q9Y512 |
RNActi | Q9Y512, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000100347, Expressed in muscle of leg and 241 other tissues |
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, Omp85, 1 hit |
PROSITEi | View protein in PROSITE PS51779, POTRA, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SAM50_HUMAN | |
Accessioni | Q9Y512Primary (citable) accession number: Q9Y512 Secondary accession number(s): Q53HC4 Q9UQM9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 24, 2001 |
Last sequence update: | November 28, 2006 | |
Last modified: | February 10, 2021 | |
This is version 172 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
Reference proteomeDocuments
- Human chromosome 22
Human chromosome 22: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families