Property Summary

NCBI Gene PubMed Count 16
Grant Count 1
R01 Count 1
Funding $339,519
PubMed Score 11.86
PubTator Score 10.22

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q9Y5X0 E9PFH5 Q8IYT5
Symbols OPTB8

Gene

 Grant Application (1)

PDB

4ON3   4PZG  

Gene RIF (9)

PMID Text
25811986 supplementation with calcium gluconate rescued mice from the rachitic phenotype and extended life span in global Snx10-deficient mice, suggesting that this may be a life-saving component of the clinical approach to Snx10-dependent human osteopetrosis
25212774 Data suggest Tyr32 and Arg51 in SNX10 are important for protein stability and play critical roles in vacuolation in osteoclasts; mutation Arg16Leu (seen in autosomal recessive osteopetrosis patients) affects protein-protein interactions of SNX10.
23615901 Structure of sorting nexin 11 (SNX11) reveals a novel extended phox homology (PX) domain critical for inhibition of SNX10-induced vacuolation.
23280965 results confirm the involvement of the SNX10 gene in human ARO and identify a new subset with a relatively favorable prognosis as compared to TCIRG1-dependent cases
22499339 Identification of SNX10 as a new osteopetrosis associated gene in consanguineous families of Palestinian origin.
22174188 Since inhibition of vesicular trafficking is essential for osteoclast formation and activity and SNX10 is involved in vesicular trafficking, these studies may identify a new gene involved in the development of bone diseases including osteoporosis.
21844891 SNX10 regulates the ciliary trafficking of Rab8a, which is a critical regulator of ciliary membrane extension.
19460752 Knockdown of sorting nexin 10 (SNX10) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells
17012226 SNX10 activity may be involved in the regulation of endosome homeostasis

AA Sequence

MFPEQQKEEFVSVWVRDPRIQKEDFWHSYIDYEICIHTNSMCFTMKTSCVRRRYREFVWLRQRLQSNALL      1 - 70
VQLPELPSKNLFFNMNNRQHVDQRRQGLEDFLRKVLQNALLLSDSSLHLFLQSHLNSEDIEACVSGQTKY     71 - 140
SVEEAIHKFALMNRRFPEEDEEGKKENDIDYDSESSSSGLGHSSDDSSSHGCKVNTAPQES             141 - 201
//

Publication (19)

PMID Year Title
25811986 2015 Osteopetrorickets due to Snx10 deficiency in mice results from both failed osteoclast activity and loss of gastric acid-dependent calcium absorption.
25416956 2014 A proteome-scale map of the human interactome network.
25212774 2014 Structure of human SNX10 reveals insights into its role in human autosomal recessive osteopetrosis.
23615901 2013 Structure of sorting nexin 11 (SNX11) reveals a novel extended phox homology (PX) domain critical for inhibition of SNX10-induced vacuolation.
23280965 2013 SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.
23123320 2013 Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia.
22589738 2012 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
22499339 2012 An SNX10 mutation causes malignant osteopetrosis of infancy.
22174188 2012 SNX10 is required for osteoclast formation and resorption activity.
21844891 2012 A SNX10/V-ATPase pathway regulates ciliogenesis in vitro and in vivo.
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