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2024-04-20 13:03:59, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_014252 4038 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens solute carrier family 25 (mitochondrial carrier;
ornithine transporter) member 15 (SLC25A15), mRNA.
ACCESSION NM_014252
VERSION NM_014252.3 GI:237649033
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 4038)
AUTHORS Yamazaki,K., Umeno,J., Takahashi,A., Hirano,A., Johnson,T.A.,
Kumasaka,N., Morizono,T., Hosono,N., Kawaguchi,T., Takazoe,M.,
Yamada,T., Suzuki,Y., Tanaka,H., Motoya,S., Hosokawa,M.,
Arimura,Y., Shinomura,Y., Matsui,T., Matsumoto,T., Iida,M.,
Tsunoda,T., Nakamura,Y., Kamatani,N. and Kubo,M.
TITLE A genome-wide association study identifies 2 susceptibility Loci
for Crohn's disease in a Japanese population
JOURNAL Gastroenterology 144 (4), 781-788 (2013)
PUBMED 23266558
REFERENCE 2 (bases 1 to 4038)
AUTHORS Palmieri,F.
TITLE The mitochondrial transporter family SLC25: identification,
properties and physiopathology
JOURNAL Mol. Aspects Med. 34 (2-3), 465-484 (2013)
PUBMED 23266187
REMARK GeneRIF: Compares and contrasts all the known human SLC25A* genes
and includes functional information.
REFERENCE 3 (bases 1 to 4038)
AUTHORS Kim,S.Z., Song,W.J., Nyhan,W.L., Ficicioglu,C., Mandell,R. and
Shih,V.E.
TITLE Long-term follow-up of four patients affected by HHH syndrome
JOURNAL Clin. Chim. Acta 413 (13-14), 1151-1155 (2012)
PUBMED 22465082
REMARK GeneRIF: Mutation analysis revealed two novel mutations in the
ORNT1 gene.
REFERENCE 4 (bases 1 to 4038)
AUTHORS Monne,M., Miniero,D.V., Daddabbo,L., Robinson,A.J., Kunji,E.R. and
Palmieri,F.
TITLE Substrate specificity of the two mitochondrial ornithine carriers
can be swapped by single mutation in substrate binding site
JOURNAL J. Biol. Chem. 287 (11), 7925-7934 (2012)
PUBMED 22262851
REMARK GeneRIF: 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
REFERENCE 5 (bases 1 to 4038)
AUTHORS Wang,J.F. and Chou,K.C.
TITLE Insights into the mutation-induced HHH syndrome from modeling human
mitochondrial ornithine transporter-1
JOURNAL PLoS ONE 7 (1), E31048 (2012)
PUBMED 22292090
REMARK GeneRIF: Useful insights for in-depth understanding of the
molecular mechanism of the HHH syndrome and developing effective
drugs against the disease.
REFERENCE 6 (bases 1 to 4038)
AUTHORS Salvi,S., Dionisi-Vici,C., Bertini,E., Verardo,M. and
Santorelli,F.M.
TITLE Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with
hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome
JOURNAL Hum. Mutat. 18 (5), 460 (2001)
PUBMED 11668643
REMARK GeneRIF: novel mutations in patients with hyperornithinemia,
hyperammonemia, and homocitrullinuria syndrome
REFERENCE 7 (bases 1 to 4038)
AUTHORS Salvi,S., Santorelli,F.M., Bertini,E., Boldrini,R., Meli,C.,
Donati,A., Burlina,A.B., Rizzo,C., Di Capua,M., Fariello,G. and
Dionisi-Vici,C.
TITLE Clinical and molecular findings in
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
JOURNAL Neurology 57 (5), 911-914 (2001)
PUBMED 11552031
REFERENCE 8 (bases 1 to 4038)
AUTHORS Miyamoto,T., Kanazawa,N., Kato,S., Kawakami,M., Inoue,Y.,
Kuhara,T., Inoue,T., Takeshita,K. and Tsujino,S.
TITLE Diagnosis of Japanese patients with HHH syndrome by molecular
genetic analysis: a common mutation, R179X
JOURNAL J. Hum. Genet. 46 (5), 260-262 (2001)
PUBMED 11355015
REFERENCE 9 (bases 1 to 4038)
AUTHORS Tsujino,S., Kanazawa,N., Ohashi,T., Eto,Y., Saito,T., Kira,J. and
Yamada,T.
TITLE Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of
Japanese patients with hyperornithinemia, hyperammonemia, and
homocitrullinuria syndrome
JOURNAL Ann. Neurol. 47 (5), 625-631 (2000)
PUBMED 10805333
REFERENCE 10 (bases 1 to 4038)
AUTHORS Camacho,J.A., Obie,C., Biery,B., Goodman,B.K., Hu,C.A.,
Almashanu,S., Steel,G., Casey,R., Lambert,M., Mitchell,G.A. and
Valle,D.
TITLE Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is
caused by mutations in a gene encoding a mitochondrial ornithine
transporter
JOURNAL Nat. Genet. 22 (2), 151-158 (1999)
PUBMED 10369256
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DB505424.1, BI461478.1,
BC002702.2, BU726339.1, AL161614.16 and AA948095.1.
This sequence is a reference standard in the RefSeqGene project.
On May 15, 2009 this sequence version replaced gi:88703039.
Summary: This gene is a member of the mitochondrial carrier family.
The encoded protein transports ornithine across the inner
mitochondrial membrane from the cytosol to the mitochondrial
matrix. The protein is an essential component of the urea cycle,
and functions in ammonium detoxification and biosynthesis of the
amino acid arginine. Mutations in this gene result in
hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.
There is a pseudogene of this locus on the Y chromosome.[provided
by RefSeq, May 2009].
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AF112968.1, AF177333.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025085 [ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
gene product(s) localized to mito. :: reported by MitoCarta
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-48 DB505424.1 1-48
49-86 BI461478.1 54-91
87-1081 BC002702.2 1-995
1082-1388 BU726339.1 18-324 c
1389-3832 AL161614.16 55243-57686
3833-4038 AA948095.1 1-206 c
FEATURES Location/Qualifiers
source 1..4038
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="13"
/map="13q14"
gene 1..4038
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/note="solute carrier family 25 (mitochondrial carrier;
ornithine transporter) member 15"
/db_xref="GeneID:10166"
/db_xref="HGNC:10985"
/db_xref="HPRD:04838"
/db_xref="MIM:603861"
exon 1..253
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/inference="alignment:Splign:1.39.8"
misc_feature 224..226
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/note="upstream in-frame stop codon"
exon 254..377
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/inference="alignment:Splign:1.39.8"
CDS 323..1228
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/note="ornithine transporter 1; solute carrier family 25
member 15"
/codon_start=1
/product="mitochondrial ornithine transporter 1"
/protein_id="NP_055067.1"
/db_xref="GI:7657585"
/db_xref="CCDS:CCDS9373.1"
/db_xref="GeneID:10166"
/db_xref="HGNC:10985"
/db_xref="HPRD:04838"
/db_xref="MIM:603861"
/translation="
MKSNPAIQAAIDLTAGAAGGTACVLTGQPFDTMKVKMQTFPDLYRGLTDCCLKTYSQVGFRGFYKGTSPALIANIAENSVLFMCYGFCQQVVRKVAGLDKQAKLSDLQNAAAGSFASAFAALVLCPTELVKCRLQTMYEMETSGKIAKSQNTVWSVIKSILRKDGPLGFYHGLSSTLLREVPGYFFFFGGYELSRSFFASGRSKDELGPVPLMLSGGVGGICLWLAVYPVDCIKSRIQVLSMSGKQAGFIRTFINVVKNEGITALYSGLKPTMIRAFPANGALFLAYEYSRKLMMNQLEAY
"
misc_feature 335..397
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y619.1);
transmembrane region"
misc_feature 341..595
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y619.1);
Region: Solcar 1"
misc_feature 356..604
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/note="Mitochondrial carrier protein; Region: Mito_carr;
pfam00153"
/db_xref="CDD:201040"
misc_feature 524..586
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y619.1);
transmembrane region"
misc_feature 632..913
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y619.1);
Region: Solcar 2"
misc_feature 650..712
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y619.1);
transmembrane region"
misc_feature <686..916
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/note="Mitochondrial carrier protein; Region: Mito_carr;
pfam00153"
/db_xref="CDD:201040"
misc_feature 824..886
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y619.1);
transmembrane region"
misc_feature 935..1210
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/note="Mitochondrial carrier protein; Region: Mito_carr;
pfam00153"
/db_xref="CDD:201040"
misc_feature 941..1201
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y619.1);
Region: Solcar 3"
misc_feature 941..1003
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y619.1);
transmembrane region"
misc_feature 1031..1093
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y619.1);
transmembrane region"
exon 378..636
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/inference="alignment:Splign:1.39.8"
variation complement(439)
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:55943532"
exon 637..774
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/inference="alignment:Splign:1.39.8"
exon 775..944
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/inference="alignment:Splign:1.39.8"
exon 945..1103
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/inference="alignment:Splign:1.39.8"
exon 1104..4021
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/inference="alignment:Splign:1.39.8"
STS 1784..1959
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/standard_name="D1S1425"
/db_xref="UniSTS:149621"
STS 1836..1954
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/standard_name="D10S16"
/db_xref="UniSTS:155756"
STS 1981..2813
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/standard_name="GDB:631813"
/db_xref="UniSTS:158430"
STS 2837..2951
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/standard_name="D10S16"
/db_xref="UniSTS:155756"
STS 2843..2971
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/standard_name="D15S1477"
/db_xref="UniSTS:474482"
STS 2857..2975
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/standard_name="D11S2560"
/db_xref="UniSTS:37928"
STS 2876..2964
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/standard_name="D8S2279"
/db_xref="UniSTS:473907"
STS 3270..3995
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/standard_name="SLC25A15_1851"
/db_xref="UniSTS:281014"
STS 3708..3968
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
/standard_name="RH17529"
/db_xref="UniSTS:81574"
polyA_signal 4018..4023
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
polyA_site 4021
/gene="SLC25A15"
/gene_synonym="D13S327; HHH; ORC1; ORNT1"
ORIGIN
tgggggcggtggcagggccggtgggcggtggcggctcccggtctcggctcgggcacggccctgggcaggccgcccgccagccgcaggggcgctcctgagcttcgcggggccgcagtccgggatgcctgcgcgaagggaggggcgaagggccggccgttgccgacgtgggtgttaagtggccgccccagccggcgacccggagccgagagcgggcggcggagcctgagctggacgcggccacgccggcgcggcgggatatgtggtgcctgtcataagctccagagagctgccttccacaagaccagcagaagagtgggcaaacatgaaatccaatcctgctatccaggctgccattgacctcacagcgggggctgcaggaggtacagcatgtgtactgaccgggcagccctttgacacaatgaaagtgaagatgcagacgttccctgacctgtaccggggcctcaccgactgctgcctgaagacttactcccaggtgggcttccgtggcttctacaagggtaccagtccagcactaatcgccaacatcgctgagaactcagtcctcttcatgtgctacggcttctgccagcaggtggtgcggaaagtggctggattggacaagcaggcaaagctgagtgatctgcagaatgcagccgccggttccttcgcctctgcctttgctgcactggtgctctgccccacggagctcgtgaagtgccggctgcagaccatgtatgagatggagacatcagggaagatagccaagagccagaatacagtgtggtctgtcatcaaaagtattcttaggaaagatggccccttggggttctaccatggactctcaagcactttacttcgagaagtaccaggctatttcttcttcttcggtggctatgaactgagccggtccttttttgcatcagggagatcaaaagatgaattaggccctgtacctttgatgttaagtggtggagttggtgggatttgcctctggcttgcggtatacccagtggattgtatcaaatccagaattcaagttctttccatgtctggaaaacaggcaggatttatcagaacctttataaatgttgtgaaaaatgaaggaataacggccttatattctggactgaaacctactatgattcgagcattccctgccaatggagcactctttttggcctacgaatatagcaggaagttgatgatgaaccagttggaagcatactgaagtgtcttggtgggcctgagccaagcacaggtgtttgaggactacagttcatctcagggtttcttggagtacaagaccagtgtgaagttattctgatttcttgggaattttgctttttgtcttcccttctaccctacatcttaaactttatggaagaacctctattttgcatcatatcatttctgtccataattgtactgaaatagaaaagtgaccgctcttgctcttggtaaaatatagagtggtcagtagccttatgcacctaattcaaaaggtggaatatagttctgtcagggcttttacgtaaacctccacttgtacatgcaatttggacagttatgtgttgagggaaatacagtttggtaccttgtttatttcaaatatcagaaaaacccagaggtgatcatttctcatgaagatgcttataaatggttgcttaacccattctagatgtagggtctgcttaatgtgtgtacttttctaagtggttgattattttttatttttttgatacagagtctcactctgtcacccagactggagtgcagtggcacgatctcggctcactgcaacctccgcctcctgggttcaagcgattctctcacctcagcctcctgagtagctgggattacaggtacgcgccaccatgtccagctaattttttttggtattttttgtagagacgaggtttcaccatgttgtccaggttggtctcgaactcctgacctcaagtgatccgcccacctcggcctcccaaagtgctgggattactggtgtgagccaccatgcccagccagtggttgaattttttaaaaagtgttcatggggtgcttgaaaactaaaatatccttctagatttgtaagacagtatacctgcatactggtgtggcttccacacttgagtaaaagcttcagagtaggtatcctagatttccccaagatgctctactcttaaaatagtgccattcattttctaggtgggatcatattccacgctgactatattgctaggggtggcccagagggtcaggcctttgggaaatagcatggcctttaccagcttcccttctctcccaaagaacttcccttcttgggctttagattgaggaaggggctgagtggtaggcggtgctgctgtgctctgatgaagacccatgtggctagcaacagcgcttaccttttgtctctgggtcctggcctggggccatcaatccactttgggccactcactgtctgctctgcctccaccaatcagaaacccttccaaggaacagtgagagccaaagccaagagaagccttcttccctgtttggtgattgtgtgacagtgggtgaacctctctcagagagaactagaaagaactcagtgcttgtactccacagtgagtaatgtcaggtctgacccatcctgaagcctgtcttgccatgcttttacagtgttggaggcttctacatttggtacttgcagtcagtaagtcttaatgatgactgtatatgtgatatgagtttataaagcaatggaacataagaaaagcaattgtaggccaggcgcagtggctcacgcctataatcccagcactttgggaggctgaggcgggcgggtcacaaggtcaggagttcgagaacagcctgaccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcgtggtggcacgtgcctgtaatcccagctactcaggaggctgaggcaggagaatcgcttgaacccgggaggcagaggttgcagtgaactgagattgtgccactgcactccagactgggtgacacagcgagacttcatctcaaaaaaaaaaagaaaagaaaagcaattgtacttcactatgccatatgtatgtattcactgaccaaaaattcactgaccaaccaaccaaactccacacttcatctgatcccccatagacttggggatggacagctgttctttggccatatggtataagaggatcattcttgtcactacttaagttagcctcatcattttgtgctgctccaacaccagcagggtatctcccaataaagtgttcctaagcagcctgtatactgagtgcaagcaggctatcaattttaataatagtccataccatgtatgtgtttctgtcagcagaatgtacatgttgtacaaaacctccaggttccttaagctttttgctgtccatgaatcctctgtggcaactgtaatcacagagccagaagccagagggccagggatatgagaggctgacaaacatcaggggacatctggggaggagatccctgtcatgtctcttgtgccatggagctattatggctggtcttccatttgctttttctttaagtgaaaaccatttttctactttgcttttctctccatacttaaatggtcagtagctactgagtggtgctttatctgaataggcctggatcgaagtaaaatagaaatgggactggctttccacaggaagtaaactgcttcagagcccacagtcccctgctcagtgtccggaaagaagtcagtcatccctgttggcagtaaatcttcccacaggccgtccattagagatttaactagatatgttcaatagaaagagtctgaggcaagtggaaatgaggaacggaaacttaggttgggagaatattttttttttattcattctgtttgcttaattcagagtacagtttgtgctatttcatatctgtactccaggcagaaatataacttgaaaatactgtgtctaaagaaatttcagtgttctatcattaaattatttacttaataaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:10166 -> Molecular function: GO:0000064 [L-ornithine transmembrane transporter activity] evidence: TAS
GeneID:10166 -> Biological process: GO:0000050 [urea cycle] evidence: TAS
GeneID:10166 -> Biological process: GO:0000066 [mitochondrial ornithine transport] evidence: TAS
GeneID:10166 -> Biological process: GO:0006520 [cellular amino acid metabolic process] evidence: TAS
GeneID:10166 -> Biological process: GO:0034641 [cellular nitrogen compound metabolic process] evidence: TAS
GeneID:10166 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
GeneID:10166 -> Cellular component: GO:0005743 [mitochondrial inner membrane] evidence: TAS
GeneID:10166 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
by
@meso_cacase at
DBCLS
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