Property Summary

NCBI Gene PubMed Count 25
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.
14759633 Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family.
12807890 expression, reconstitution, functional characterization, and tissue distribution of two human isoforms
11668643 novel mutations in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome

AA Sequence

MKSNPAIQAAIDLTAGAAGGTACVLTGQPFDTMKVKMQTFPDLYRGLTDCCLKTYSQVGFRGFYKGTSPA      1 - 70
LIANIAENSVLFMCYGFCQQVVRKVAGLDKQAKLSDLQNAAAGSFASAFAALVLCPTELVKCRLQTMYEM     71 - 140
ETSGKIAKSQNTVWSVIKSILRKDGPLGFYHGLSSTLLREVPGYFFFFGGYELSRSFFASGRSKDELGPV    141 - 210
PLMLSGGVGGICLWLAVYPVDCIKSRIQVLSMSGKQAGFIRTFINVVKNEGITALYSGLKPTMIRAFPAN    211 - 280
GALFLAYEYSRKLMMNQLEAY                                                     281 - 301
//

Text Mined References (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.
18978333 2008 Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15.
17825324 2008 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis.
16601889 2006 HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.
16376511 2006 A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome.
16256388 2005 The use of yeast mitochondria to study the properties of wild-type and mutant human mitochondrial ornithine transporter.
15498874 2004 Large-scale cDNA transfection screening for genes related to cancer development and progression.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15057823 2004 The DNA sequence and analysis of human chromosome 13.
14759633 2004 Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family.
12948741 2003 Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder.
12807890 2003 The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11814739 2002 A novel mutation, P126R, in a Japanese patient with HHH syndrome.
11668643 2001 Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
11552031 2001 Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
11355015 2001 Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X.
10805333 2000 Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
10369256 1999 Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.