Details for: SLC25A15
Associated with
Other Information
Genular Protein ID: 4181702758
Symbol: ORNT1_HUMAN
Name: Mitochondrial ornithine transporter 1
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 10369256
Title: Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.
PubMed ID: 10369256
DOI: 10.1038/9658
PubMed ID: 12807890
Title: The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms.
PubMed ID: 12807890
PubMed ID: 15498874
Title: Large-scale cDNA transfection screening for genes related to cancer development and progression.
PubMed ID: 15498874
PubMed ID: 15057823
Title: The DNA sequence and analysis of human chromosome 13.
PubMed ID: 15057823
DOI: 10.1038/nature02379
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 22262851
Title: Substrate specificity of the two mitochondrial ornithine carriers can be swapped by single mutation in substrate binding site.
PubMed ID: 22262851
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
PubMed ID: 10805333
Title: Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
PubMed ID: 10805333
DOI: 10.1002/1531-8249(200005)47:5<625::aid-ana10>3.3.co;2-h
PubMed ID: 11668643
Title: Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
PubMed ID: 11668643
DOI: 10.1002/humu.1221
PubMed ID: 11552031
Title: Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
PubMed ID: 11552031
DOI: 10.1212/wnl.57.5.911
PubMed ID: 11814739
Title: A novel mutation, P126R, in a Japanese patient with HHH syndrome.
PubMed ID: 11814739
PubMed ID: 16601889
Title: HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.
PubMed ID: 16601889
PubMed ID: 19242930
Title: Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.
PubMed ID: 19242930
DOI: 10.1002/humu.20930
PubMed ID: 24721342
Title: A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: functional analysis of the mutant protein.
PubMed ID: 24721342
Sequence Information:
- Length: 301
- Mass: 32736
- Checksum: 34436A15B105DC53
- Sequence:
MKSNPAIQAA IDLTAGAAGG TACVLTGQPF DTMKVKMQTF PDLYRGLTDC CLKTYSQVGF RGFYKGTSPA LIANIAENSV LFMCYGFCQQ VVRKVAGLDK QAKLSDLQNA AAGSFASAFA ALVLCPTELV KCRLQTMYEM ETSGKIAKSQ NTVWSVIKSI LRKDGPLGFY HGLSSTLLRE VPGYFFFFGG YELSRSFFAS GRSKDELGPV PLMLSGGVGG ICLWLAVYPV DCIKSRIQVL SMSGKQAGFI RTFINVVKNE GITALYSGLK PTMIRAFPAN GALFLAYEYS RKLMMNQLEA Y
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.