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SAMM50 Gene

protein-coding   GIFtS: 53

GC22P042677
sorting and assembly machinery component 50 homolog (S. cerevisiae)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
CGI-51 1, 2
FLJ35825 2
FLJ42905 2
FLJ99036 2
OMP85 1, 2
SAM50 2, 5
TOB55 1, 2
TRG-3 1, 2
YNL026W 1, 2
Descriptions
sorting and assembly machinery 50kDa 2
sorting and assembly machinery component 50 homolog 2
sorting and assembly machinery component 50 homolog (S.
cerevisiae) 2
transformation-related protein 3 2
External Ids
HGNC: 242761
Entrez Gene: 258132
UniProtKB: Q9Y5123
Ensembl: ENSG000001003477
Search outside databases for aliases for SAMM50 gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for SAMM50:
SAMM50 is a component of the sorting and assembly machinery (SAM) complex of the outer
mitochondrial membrane. The SAM complex has a role in integrating beta-barrel proteins into the
outer mitochondrial membrane (Humphries et al., 2005 [PubMed 15644312]).[supplied by OMIM]

UniProtKB/Swiss-Prot: SAM50_HUMAN, Q9Y512
Function: May be required for the assembly pathway of mitochondrial outer membrane proteins (By
similarity)

Gene Wiki entry for SAMM50

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the SAMM50 gene  

Entrez Gene cytogenetic band: 22q13.31   Ensembl cytogenetic band:  22q13.31   HGNC cytogenetic band: 22q13.31

SAMM50 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P042677:     (about GC identifiers)

Start:
42,673,949 bp from pter
End:
42,723,745 bp from pter
Size:
49,797 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000022.9  NT_011521.4  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: SAM50_HUMAN, Q9Y512 (See protein sequence)
Recommended Name: Sorting and assembly machinery component 50 homolog  
Size: 469 amino acids; 51976 Da
Subcellular location: Mitochondrion outer membrane; Multi-pass membrane protein (By similarity)
Secondary accessions: Q969Y9 Q96I46 Q9NW85 Q9UQM9

REFSEQ proteins: NP_056195.3  

ENSEMBL proteins: 
ENSP00000345445 ENSP00000379505 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (SAMM50)
Human Recombinant Proteins from Abnova (SAMM50)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6 ):

GO IDQualified GO termEvidencePubMed IDs
GO:0000299 integral to membrane of membrane fraction IDA15644312
GO:0001401 mitochondrial sorting and assembly machinery complex IMP15644312
GO:0005575 cellular_component ND--
GO:0005739 mitochondrion IEA--
GO:0016021 integral to membrane IEA--
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Antibodies for SAMM50: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for SAMM50
Browse R&D Systems for Antibodies
Antibodies from Abcam (SAMM50), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (SAMM50)
Novus Biologicals Antibody for SAMM50

Assays for SAMM50: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro domain/family:
 IPR000184 Bac_surfAg_D15


   GeneDecks  SAMM50 for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry Q9Y512

ProtoNet protein and cluster: Q9Y512

1 Blocks protein family: IPB000184 Bacterial surface antigen (D15)

UniProtKB/Swiss-Prot: SAM50_HUMAN, Q9Y512
Domain: Its C-terminal part contains many membrane-spanning sided beta-sheets, that have the
potential to adopt a transmembrane "beta-barrel" type structure, in which the transmembrane
domains can not be predicted by classical prediction programs (By similarity)
Similarity: Belongs to the SAM50/omp85 family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (SAMM50)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (SAMM50)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_015380

              Applied Biosystems Silencer® siRNAs for SAMM50

              Sigma-Aldrich siRNA for SAMM50  
                     Sigma-Aldrich shRNA for SAMM50  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Browse Clone Ranger at Invitrogen for clones
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_015380
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_015380
                                 untagged cDNA clone in CMV expression vector: NM_015380 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_015380

UniProtKB/Swiss-Prot: SAM50_HUMAN, Q9Y512
Function: May be required for the assembly pathway of mitochondrial outer membrane proteins (By
similarity)

1 Gene Ontology (GO) molecular function term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0003674 molecular_function ND--
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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5/12 Interacting proteins for SAMM50 (ENSP000003454453 Q9Y5122) via UniProtKB, MINT, and/or STRING (see all 12 )
InteractantInteraction Details
GeneCardExternal ID(s)
MTX1Q135052STRING (score=.815) MINT-5007196 MINT-4791404
MTX2O754312STRING (score=.823) MINT-5007196 MINT-4791404
IMMTQ168912STRING (score=.729) MINT-5007196
CHCHD3Q9NX632MINT-5007196
CHCHD6Q9BRQ62MINT-5007196
About this table

2 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0008150 biological_process ND--
GO:0070096 mitochondrial outer membrane translocase complex assembly IDA15644312
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for SAMM50

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (SAMM50)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (SAMM50)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_015380

              Sigma-Aldrich siRNA for SAMM50  
                     Sigma-Aldrich shRNA for SAMM50  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_015380  

REFSEQ mRNAs for SAMM50 gene: 

NM_015380.4   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_015380  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_015380
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_015380
                                 untagged cDNA clone in CMV expression vector: NM_015380 

Additional cDNA sequence: 

AF151809.1 AK001087.1 AK124895.1 AK222657.1 AK297770.1 AK312773.1 AY189688.1 BC007830.1 
BC011681.2 BC015200.1 CR456483.1 CR593096.1 CR608779.1 CR609254.1 CR611110.1 CR614301.1 
CR614311.1 CR617275.1 CR621217.1 CR621234.1 CR624790.1 CR625665.1 

22 DOTS entries:

DT.99995173  DT.447807  DT.86842458  DT.100667516  DT.100875076  DT.100875067  DT.91683533  DT.100875054 
DT.100875063  DT.100834959  DT.100829390  DT.120654138  DT.100875056  DT.100875068  DT.100875073  DT.92447921 
DT.101955766  DT.120654095  DT.120654266  DT.40132655  DT.92447912  DT.120654288 

24/508 AceView cDNA sequences (see all 508 ):

AA526967 CR609254 CK005566 CR617275 AU142991 BQ277665 CR456483 BX339634 
AW089147 BM554525 AA320598 BM969231 CR614311 AU146025 CK902355 AK124895 
AI868730 BQ437687 BX389329 Z40273 BU556887 AA807561 AW162450 BU845861 

highest scoring ESTs for SAMM50:

AA074770 AA076067 AA169888 AA181656 AA418465 AA424576 AA424682 AA431724 AA478783 AA478902 

Unigene Cluster for SAMM50:

Sorting and assembly machinery component 50 homolog (S. cerevisiae)
Hs.505824  [show with all ESTs]
Unigene Representative Sequence: AK124895


GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for SAMM50

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16
SP1:                    -                                   -           -                                   -                     
SP2:                                                                                                        -                     
SP3:                    -                                                                                                         
SP4:                          -                                                                                                   
SP5:                                                                                                                              

About this scheme

ECgene alternative splicing isoforms for SAMM50

2 Ensembl transcripts including schematic representations:
ENST00000350028  ENST00000396202  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

SAMM50 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for SAMM50

1 / 2 / 3

11 probe-sets matching SAMM50 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
57320_at2, 3 U95-C 1 1.00 1.00 -0.02 0.95 AW024229 0.60 1.00 0.82 1

34845_at2, 3 U95-A 2 1.00 0.94 0.70 1.21 AL035398 0.20 1.00 0.72 1
78302_at2, 3 U95-D 1 0.88 1.00 0.62 0.85 AI033500 0.60 1.00 0.82 1

230396_at2, 3 U133-B 1 1.00 1.00 -- -- BF509015 0.40 1.00 0.76 1

243239_at2, 3 U133-B 1 1.00 1.00 -- -- AI033500 0.60 1.00 0.82 1

201569_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_015380 0.60 1.00 0.82 1

201570_at2, 3 U133-A 2 1.00 0.95 -- -- NM_015380 0.60 1.00 0.82 1

230396_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

243239_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

201569_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

201570_at2 U133Plus2 2 1.00 0.95 -- -- -- -- -- -- --
GeneDecks  SAMM50 for binary patterns associated with the probe-sets selected above  
About GeneDecksing
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Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.505824
(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for SAMM50 gene from 5/11 species (see all 11 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
SAMM501   -- sorting and assembly machinery component 50 homolog more 89.16(n)
97.58(a)
474473  XM_531702.2  XP_531702.2 
chimpanzee
(Pan troglodytes)
SAMM501   -- sorting and assembly machinery component 50 homolog more 99.64(n)
99.57(a)
470281  XM_001172192.1  XP_001172192.1 
rat
(Rattus norvegicus)
Samm501   -- sorting and assembly machinery component 50 homolog more 85.29(n)
95.31(a)
300111  NM_001004241.1  NP_001004241.1 
mouse
(Mus musculus)
Samm501, 5 155
sorting and assembly machinery component 50 homolog more1, 5 85.22(n)1
96.16(a)1
686531  NM_178614.31  NP_848729.11 
 AK0039905  AK0317925  (see all 29)
chicken
(Gallus gallus)
SAMM501   -- sorting and assembly machinery component 50 homolog more 81.81(n)
91.9(a)
418234  XM_416458.2  XP_416458.2 
About this table        Species with no ortholog for SAMM50

ENSEMBL Gene Tree for SAMM50
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

  --
(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/317 NCBI SNPs in SAMM50 are shown (see all 317 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 166)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 22 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs84181,2
A,C,F,H42711171(-) GCGGAC/TGCTTG 1 V/I mis15Minor allele frequency- T:0.20EU EA WA NA 480
rs14747461,2
A,C,F,H42681750(+) GGGGAG/CAGAAG 1 -- ng5111Minor allele frequency- C:0.17EU EA WA MN 1348
rs22949201,2
C,F,H42682684(+) GGGAGT/CTGCCT 1 -- ut518Minor allele frequency- C:0.09EA NA EU WA 2028
rs119126351,2
C,F,H42723791(+) CCGCGT/AGGCCT 1 -- ng314Minor allele frequency- A:0.02EU EA WA 418
rs37614721,2
C,F,H42699455(+) TGATGA/GCGCAC 1 D/G mis119Minor allele frequency- G:0.35EA NA EU WA 2994
rs169912141,2
F,H42682549(+) AACGTC/TCTCCG 1 -- ng517Minor allele frequency- T:0.03NA EU EA WA 552
rs169912081,2
F,H42681276(+) GGTAAA/TGCATG 1 -- ng517Minor allele frequency- T:0.01NA EU EA WA 554
rs169912041,2
F,H42681258(+) GACAGC/TCCTTT 1 -- ng517Minor allele frequency- T:0.01NA EU EA WA 552
rs60064721,2
F,H42724064(+) CAAACC/TGTGTA 1 -- ng314Minor allele frequency- T:0.12EU EA WA 418
--
rs60065901,2
A,C42681223(+) AGATAA/GCCTTT 1 -- ng510--------
About this table

HapMap Linkage Disequilibrium images for SAMM50 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 612058

(Possibly Related Articles in Doctor's Guide)
About This Section

  --

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
About This Section

10/14 PubMed articles for SAMM50 gene (see all 14 ):
(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)
(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 25813 HGNC: 24276 AceView: CGI-51 Ensembl:ENSG00000100347 euGenes: HUgn25813
ECgene: SAMM50 H-InvDB: SAMM50
(According to HUGE)
About This Section

  --
(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

  --
(Available from WIS Yeda, Salk, Tufts)
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  --
(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for SAMM50:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



  Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
  Invitrogen Antibodies  Invitrogen Assays
  Invitrogen Clones  Invitrogen Q-PCR Products
  Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
  Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for SAMM50-related products

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 Millipore Preclinical / Clinical Development Services
 Millipore Immunoassay Services
 Millipore Target Screening & Profiling Services


 Predesigned and custom siRNAs for SAMM50 Antibodies for SAMM50
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for SAMM50 Browse small molecules at Sigma-Aldrich
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 Antibodies for SAMM50

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