Property Summary

NCBI Gene PubMed Count 25
Grant Count 49
R01 Count 9
Funding $7,687,751.61
PubMed Score 150.31
PubTator Score 42.03

Knowledge Summary

Patent

No data available

Expression

Protein-protein Interaction (4)

Gene RIF (13)

PMID Text
23266187 Compares and contrasts all the known human SLC25A* genes and includes functional information.
22465082 Mutation analysis revealed two novel mutations in the ORNT1 gene.
22292090 Useful insights for in-depth understanding of the molecular mechanism of the HHH syndrome and developing effective drugs against the disease.
22262851 characterized mutations of the proposed substrate binding site in ORC1 and ORC2; demonstrated that the residue at position 179 in the 2 soforms is largely responsible for the difference in their substrate specificity;concluded that Arg-179 is a key residue in the opening of the carrier to the matrix side
20877624 Observational study of gene-disease association. (HuGE Navigator)
19242930 16 additional Hyperornithinemia-hyperammonemia-homocitrullinuria cases were collected and the spectrum of SLC25A15/ORC1 mutations, was expanded.
18978333 Clinical presentations and outcomes varied significantly in HHH syndrome patients homozygous for delF188 mutations in SLC25A15.
17825324 The three patients were homozygous for a novel mutation in ORNT1 with a Gly220Arg change. We suggest including HHH syndrome in the differential diagnosis of patients found to have stroke-like lesions on brain MRI.
16376511 A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome
16256388 The DeltaF 188 mutant was not incorporated into the membrane to the same extent as wild type, but retained significant residual activity and lost stereospecificity.
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AA Sequence

MKSNPAIQAAIDLTAGAAGGTACVLTGQPFDTMKVKMQTFPDLYRGLTDCCLKTYSQVGFRGFYKGTSPA      1 - 70
LIANIAENSVLFMCYGFCQQVVRKVAGLDKQAKLSDLQNAAAGSFASAFAALVLCPTELVKCRLQTMYEM     71 - 140
ETSGKIAKSQNTVWSVIKSILRKDGPLGFYHGLSSTLLREVPGYFFFFGGYELSRSFFASGRSKDELGPV    141 - 210
PLMLSGGVGGICLWLAVYPVDCIKSRIQVLSMSGKQAGFIRTFINVVKNEGITALYSGLKPTMIRAFPAN    211 - 280
GALFLAYEYSRKLMMNQLEAY                                                     281 - 301
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Publication (29)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23266558 2013 A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.
23266187 The mitochondrial transporter family SLC25: identification, properties and physiopathology.
22465082 2012 Long-term follow-up of four patients affected by HHH syndrome.
22292090 2012 Insights into the mutation-induced HHH syndrome from modeling human mitochondrial ornithine transporter-1.
22262851 2012 Substrate specificity of the two mitochondrial ornithine carriers can be swapped by single mutation in substrate binding site.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20574716 2010 Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan.
19242930 2009 Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.
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