Property Summary

NCBI Gene PubMed Count 32
Grant Count 16
R01 Count 6
Funding $3,645,798.74
PubMed Score 112.45
PubTator Score 56.68

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.077 0.003
osteosarcoma -2.431 0.000
lung cancer 1.300 0.000
ovarian cancer 2.800 0.000
dermatomyositis 1.200 0.012

Gene RIF (12)

PMID Text
26855047 downregulation of SAM50 in BCR-ABL-expressing, but not normal CD34(+) human hematopoietic stem and progenitor cells (HSPCs) caused a significant decrease in growth, colony formation, and replating capacity.
26530328 the integrity of MICOS and its efficient interaction with Sam50 are indispensable for cristae organization, which is relevant to mitochondrial function.
23535911 Polymorphisms in the SAMM50 and PARVB genes in addition to those in the PNPLA3 gene were observed to be associated with the development and progression of NAFLD.
22252321 The study describes a novel role of SAM50 in maintaining the mitochondrial shape and the morphology of cristae.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
18940312 Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
18854154 Knockdown of sorting and assembly machinery component 50 homolog (S. cerevisiae, SAMM50) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1
More...

AA Sequence

MGTVHARSLEPLPSSGPDFGGLGEEAEFVEVEPEAKQEILENKDVVVQHVHFDGLGRTKDDIIICEIGDV      1 - 70
FKAKNLIEVMRKSHEAREKLLRLGIFRQVDVLIDTCQGDDALPNGLDVTFEVTELRRLTGSYNTMVGNNE     71 - 140
GSMVLGLKLPNLLGRAEKVTFQFSYGTKETSYGLSFFKPRPGNFERNFSVNLYKVTGQFPWSSLRETDRG    141 - 210
MSAEYSFPIWKTSHTVKWEGVWRELGCLSRTASFAVRKESGHSLKSSLSHAMVIDSRNSSILPRRGALLK    211 - 280
VNQELAGYTGGDVSFIKEDFELQLNKQLIFDSVFSASFWGGMLVPIGDKPSSIADRFYLGGPTSIRGFSM    281 - 350
HSIGPQSEGDYLGGEAYWAGGLHLYTPLPFRPGQGGFGELFRTHFFLNAGNLCNLNYGEGPKAHIRKLAE    351 - 420
CIRWSYGAGIVLRLGNIARLELNYCVPMGVQTGDRICDGVQFGAGIRFL                         421 - 469
//

Text Mined References (38)

PMID Year Title
27059175 2016 SAMM50 Affects Mitochondrial Morphology through the Association of Drp1 in Mammalian Cells.
26855047 2016 Depletion of SAM50 Specifically Targets BCR-ABL-Expressing Leukemic Stem and Progenitor Cells by Interfering with Mitochondrial Functions.
26530328 2015 Mitofilin and CHCHD6 physically interact with Sam50 to sustain cristae structure.
25997101 2015 QIL1 is a novel mitochondrial protein required for MICOS complex stability and cristae morphology.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25781180 2015 Detailed analysis of the human mitochondrial contact site complex indicate a hierarchy of subunits.
25416956 2014 A proteome-scale map of the human interactome network.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24129315 2014 Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.
23535911 2013 Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan.
More...