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|---|---|
| Accession Number: | Q9Y619 |
| Protein Name: | Mitochondrial ornithine transporter 1 |
| Length: | 301 |
| Molecular Weight: | 32736.00 |
| Species: | Homo sapiens (Human) [9606] |
| Number of TMSs: | 4 |
| Location1 / Topology2 / Orientation3: | Mitochondrion inner membrane1 / Multi-pass membrane protein2 |
| Substrate | ornithine, citrulline |
Cross database links:
| RefSeq: | NP_055067.1 |
|---|---|
| Entrez Gene ID: | 10166 |
| Pfam: | PF00153 |
| OMIM: |
238970 phenotype 603861 gene |
| KEGG: | hsa:10166 hsa:10166 hsa:10166 |
Gene Ontology
GO:0016021
C:integral to membrane
GO:0005743
C:mitochondrial inner membrane
GO:0005488
F:binding
GO:0000064
F:L-ornithine transmembrane transporter activity
GO:0006520
P:cellular amino acid metabolic process
GO:0000066
P:mitochondrial ornithine transport
GO:0055085
P:transmembrane transport
GO:0000050
P:urea cycle
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References (33)[1] “Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.” Camacho J.A.et.al. 10369256 [2] “The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms.” Fiermonte G.et.al. 12807890 [3] “Large-scale cDNA transfection screening for genes related to cancer development and progression.” Wan D.et.al. 15498874 [4] “The DNA sequence and analysis of human chromosome 13.” Dunham A.et.al. 15057823 [5] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).” The MGC Project Teamet.al. 15489334 [6] “Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.” Tsujino S.et.al. 10805333 [7] “Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.” Salvi S.et.al. 11668643 [8] “Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.” Salvi S.et.al. 11552031 [9] “A novel mutation, P126R, in a Japanese patient with HHH syndrome.” Miyamoto T.et.al. 11814739 [10] “HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.” Fecarotta S.et.al. 16601889 [11] “Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.” Tessa A.et.al. 19242930 [12] “Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.” Camacho J.A.et.al. 10369256 [13] “The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms.” Fiermonte G.et.al. 12807890 [14] “Large-scale cDNA transfection screening for genes related to cancer development and progression.” Wan D.et.al. 15498874 [15] “The DNA sequence and analysis of human chromosome 13.” Dunham A.et.al. 15057823 [16] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).” The MGC Project Teamet.al. 15489334 [17] “Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.” Tsujino S.et.al. 10805333 [18] “Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.” Salvi S.et.al. 11668643 [19] “Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.” Salvi S.et.al. 11552031 [20] “A novel mutation, P126R, in a Japanese patient with HHH syndrome.” Miyamoto T.et.al. 11814739 [21] “HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.” Fecarotta S.et.al. 16601889 [22] “Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.” Tessa A.et.al. 19242930 [23] “Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.” Camacho J.A.et.al. 10369256 [24] “The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms.” Fiermonte G.et.al. 12807890 [25] “Large-scale cDNA transfection screening for genes related to cancer development and progression.” Wan D.et.al. 15498874 [26] “The DNA sequence and analysis of human chromosome 13.” Dunham A.et.al. 15057823 [27] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).” The MGC Project Teamet.al. 15489334 [28] “Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.” Tsujino S.et.al. 10805333 [29] “Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.” Salvi S.et.al. 11668643 [30] “Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.” Salvi S.et.al. 11552031 [31] “A novel mutation, P126R, in a Japanese patient with HHH syndrome.” Miyamoto T.et.al. 11814739 [32] “HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.” Fecarotta S.et.al. 16601889 [33] “Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.” Tessa A.et.al. 19242930
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1: MKSNPAIQAA IDLTAGAAGG TACVLTGQPF DTMKVKMQTF PDLYRGLTDC CLKTYSQVGF 61: RGFYKGTSPA LIANIAENSV LFMCYGFCQQ VVRKVAGLDK QAKLSDLQNA AAGSFASAFA 121: ALVLCPTELV KCRLQTMYEM ETSGKIAKSQ NTVWSVIKSI LRKDGPLGFY HGLSSTLLRE 181: VPGYFFFFGG YELSRSFFAS GRSKDELGPV PLMLSGGVGG ICLWLAVYPV DCIKSRIQVL 241: SMSGKQAGFI RTFINVVKNE GITALYSGLK PTMIRAFPAN GALFLAYEYS RKLMMNQLEA 301: Y