Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Sorting and assembly machinery component 50 homolog

Gene

SAMM50

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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
  • mitochondrial respiratory chain complex assembly Source: UniProtKB
  • protein import into mitochondrial outer membrane Source: BHF-UCL
Complete GO annotation...

Enzyme and pathway databases

ReactomeiR-HSA-1268020. Mitochondrial protein import.

Protein family/group databases

TCDBi1.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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:24276. SAMM50.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • integral component of membrane Source: BHF-UCL
  • mitochondrial inner membrane Source: Ensembl
  • mitochondrial outer membrane Source: BHF-UCL
  • mitochondrial sorting and assembly machinery complex Source: BHF-UCL
  • mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane, Mitochondrion, Mitochondrion outer membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142670954.

Polymorphism and mutation databases

BioMutaiSAMM50.
DMDMi118572715.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 469469Sorting and assembly machinery component 50 homologPRO_0000215939Add
BLAST

Proteomic databases

EPDiQ9Y512.
MaxQBiQ9Y512.
PaxDbiQ9Y512.
PeptideAtlasiQ9Y512.
PRIDEiQ9Y512.

PTM databases

iPTMnetiQ9Y512.
PhosphoSiteiQ9Y512.
SwissPalmiQ9Y512.

Expressioni

Gene expression databases

BgeeiENSG00000100347.
CleanExiHS_SAMM50.
GenevisibleiQ9Y512. HS.

Organism-specific databases

HPAiHPA034537.

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, MTX2 and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9 (PubMed:25781180, PubMed:25997101). Found in a complex with IMMT/MIC60 and CHCHD3/MIC19 termed mitochondrial intermembrane space bridging (MIB) complex. Interacts with IMMT/MIC60 (PubMed:25997101). Interacts with CHCHD3/MIC19 (PubMed:21081504).5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
CHCHD3Q9NX633EBI-748409,EBI-743375

Protein-protein interaction databases

BioGridi117342. 31 interactions.
IntActiQ9Y512. 10 interactions.
MINTiMINT-1451034.
STRINGi9606.ENSP00000345445.

Structurei

3D structure databases

ProteinModelPortaliQ9Y512.
SMRiQ9Y512. Positions 47-468.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini45 – 12581POTRAPROSITE-ProRule annotationAdd
BLAST

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
Contains 1 POTRA domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane beta strand

Phylogenomic databases

eggNOGiKOG2602. Eukaryota.
COG4775. LUCA.
GeneTreeiENSGT00390000011355.
HOVERGENiHBG054614.
InParanoidiQ9Y512.
KOiK07277.
OMAiWDQTSEV.
OrthoDBiEOG091G0IAD.
PhylomeDBiQ9Y512.
TreeFamiTF106126.

Family and domain databases

InterProiIPR000184. Bac_surfAg_D15.
[Graphical view]
PfamiPF01103. Bac_surface_Ag. 1 hit.
[Graphical view]
PROSITEiPS51779. POTRA. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9Y512-1 [UniParc]FASTAAdd 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti10 – 101E → G in BAD96377 (Ref. 5) Curated
Sequence conflicti368 – 3725WAGGL → LGRRW in AAD34046 (PubMed:10810093).Curated
Sequence conflicti371 – 3711Missing in AAH07830 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti110 – 1101D → G.1 Publication
Corresponds to variant rs3761472 [ dbSNP | Ensembl ].
VAR_057338
Natural varianti345 – 3451I → V.2 Publications
Corresponds to variant rs8418 [ dbSNP | Ensembl ].
VAR_013768

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. Translation: CAB51401.1.
CH471138 Genomic DNA. Translation: EAW73326.1.
BC007830 mRNA. Translation: AAH07830.1.
BC011681 mRNA. Translation: AAH11681.1.
BC015200 mRNA. Translation: AAH15200.1.
CCDSiCCDS14055.1.
RefSeqiNP_056195.3. NM_015380.4.
UniGeneiHs.505824.

Genome annotation databases

EnsembliENST00000350028; ENSP00000345445; ENSG00000100347.
GeneIDi25813.
KEGGihsa:25813.
UCSCiuc003bej.4. human.

Keywords - Coding sequence diversityi

Polymorphism

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. Translation: CAB51401.1.
CH471138 Genomic DNA. Translation: EAW73326.1.
BC007830 mRNA. Translation: AAH07830.1.
BC011681 mRNA. Translation: AAH11681.1.
BC015200 mRNA. Translation: AAH15200.1.
CCDSiCCDS14055.1.
RefSeqiNP_056195.3. NM_015380.4.
UniGeneiHs.505824.

3D structure databases

ProteinModelPortaliQ9Y512.
SMRiQ9Y512. Positions 47-468.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117342. 31 interactions.
IntActiQ9Y512. 10 interactions.
MINTiMINT-1451034.
STRINGi9606.ENSP00000345445.

Protein family/group databases

TCDBi1.B.33.3.4. the outer membrane protein insertion porin (bam complex) (ompip) family.

PTM databases

iPTMnetiQ9Y512.
PhosphoSiteiQ9Y512.
SwissPalmiQ9Y512.

Polymorphism and mutation databases

BioMutaiSAMM50.
DMDMi118572715.

Proteomic databases

EPDiQ9Y512.
MaxQBiQ9Y512.
PaxDbiQ9Y512.
PeptideAtlasiQ9Y512.
PRIDEiQ9Y512.

Protocols and materials databases

DNASUi25813.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000350028; ENSP00000345445; ENSG00000100347.
GeneIDi25813.
KEGGihsa:25813.
UCSCiuc003bej.4. human.

Organism-specific databases

CTDi25813.
GeneCardsiSAMM50.
HGNCiHGNC:24276. SAMM50.
HPAiHPA034537.
MIMi612058. gene.
neXtProtiNX_Q9Y512.
PharmGKBiPA142670954.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2602. Eukaryota.
COG4775. LUCA.
GeneTreeiENSGT00390000011355.
HOVERGENiHBG054614.
InParanoidiQ9Y512.
KOiK07277.
OMAiWDQTSEV.
OrthoDBiEOG091G0IAD.
PhylomeDBiQ9Y512.
TreeFamiTF106126.

Enzyme and pathway databases

ReactomeiR-HSA-1268020. Mitochondrial protein import.

Miscellaneous databases

ChiTaRSiSAMM50. human.
GeneWikiiSAMM50.
GenomeRNAii25813.
PROiQ9Y512.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000100347.
CleanExiHS_SAMM50.
GenevisibleiQ9Y512. HS.

Family and domain databases

InterProiIPR000184. Bac_surfAg_D15.
[Graphical view]
PfamiPF01103. Bac_surface_Ag. 1 hit.
[Graphical view]
PROSITEiPS51779. POTRA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSAM50_HUMAN
AccessioniPrimary (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: September 7, 2016
This is version 137 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.