 |
 | Services
| |
 |
Aliases & Descriptions for SAMM50
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| 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 |
|
| | Search outside databases for aliases for SAMM50 gene |
Summaries for SAMM50(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| 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, Q9Y512Function: May be required for the assembly pathway of mitochondrial outer membrane proteins (By similarity)Gene Wiki entry for SAMM50 |
Genomic Location 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) About This Section
| 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: 22q13.31SAMM50 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
| Proteins for SAMM50
(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)
About This Section
| 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 Q9UQM9REFSEQ proteins: NP_056195.3
ENSEMBL proteins: ENSP00000345445 ENSP00000379505
Human Recombinant Proteins 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
): About this table
Antibodies for SAMM50: Assays for SAMM50: | Protein
Domains/ Families for SAMM50(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, Q9Y512Domain: 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 | Gene Function for SAMM50
(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
|               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 
              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, Q9Y512Function: 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 ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003674 | molecular_function |
ND | -- | About this table | Pathways & Interactions for SAMM50
(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.)
About This Section
|
5/12 Interacting proteins for SAMM50 (ENSP000003454453 Q9Y5122) via UniProtKB, MINT, and/or STRING (see all 12
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008150 | biological_process |
ND | -- | | GO:0070096 | mitochondrial outer membrane translocase complex assembly |
IDA | 15644312 | About this table
|
Drugs & Compounds for SAMM50(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 Tocris compounds for SAMM50
|
Transcripts 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
|               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
|
Expression for SAMM50
(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 Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene cluster: Hs.505824
|
Orthologs for SAMM50
(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
)
About this table Species with no ortholog for SAMM50
ENSEMBL Gene Tree for SAMM50 | Paralogs for SAMM50(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for SAMM50(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for SAMM50 (up to first 250kb)
|
Disorders & Mutations for SAMM50
(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
|
Medical News for SAMM50(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for SAMM50 (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
):- Dissection of the mitochondrial import and assembly pathway for human Tom40. (PubMed id 15644312)2, 3 Humphries A.D....Ryan M.T. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)3, 4 Ota T....Sugano S. (2004)
- A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)3, 4 Collins J.E.... Dunham I. (2004)
- Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)3, 4 Lai C.H....Lin W. (2000)
- The DNA sequence of human chromosome 22. (PubMed id 10591208)3, 4 Dunham I....O'Brien K.P. (1999)
- Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. (PubMed id 18940312)3 Yuan X....Mooser V. (2008)
- The mitochondrial inner membrane protein mitofilin exists as a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil-helix domain-containing protein 3 and 6 and DnaJC11. (PubMed id 17624330)3 Xie J....Capaldi R.A. (2007)
- Conserved roles of Sam50 and metaxins in VDAC biogenesis. (PubMed id 17510655)3 Kozjak-Pavlovic V....Rudel T. (2007)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)3 Kimura K.... Sugano S. (2006)
|
Search for SAMM50
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing SAMM50
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing SAMM50
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SAMM50(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
|
| About This Section
| --
| Services for SAMM50(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:

 | |
 | | | | |
|
 |  |  |
| | | | Search Tocris compounds for SAMM50 |
|
 |
 | | | |
GeneCards Homepage - Last full update: 1 Jul 2009
Incremental update: 13 Oct 2009
|