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2020-10-24 07:20:46, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_031947               1417 bp    mRNA    linear   PRI 07-JUL-2013
DEFINITION  Homo sapiens solute carrier family 25 (mitochondrial carrier;
            ornithine transporter) member 2 (SLC25A2), mRNA.
ACCESSION   NM_031947
VERSION     NM_031947.2  GI:67944635
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 1417)
  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   2  (bases 1 to 1417)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS ONE 7 (12), E51954 (2012)
   PUBMED   23251661
REFERENCE   3  (bases 1 to 1417)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS ONE 5 (9), E12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1417)
  AUTHORS   Trynka,G., Zhernakova,A., Romanos,J., Franke,L., Hunt,K.A.,
            Turner,G., Bruinenberg,M., Heap,G.A., Platteel,M., Ryan,A.W., de
            Kovel,C., Holmes,G.K., Howdle,P.D., Walters,J.R., Sanders,D.S.,
            Mulder,C.J., Mearin,M.L., Verbeek,W.H., Trimble,V., Stevens,F.M.,
            Kelleher,D., Barisani,D., Bardella,M.T., McManus,R., van Heel,D.A.
            and Wijmenga,C.
  TITLE     Coeliac disease-associated risk variants in TNFAIP3 and REL
            implicate altered NF-kappaB signalling
  JOURNAL   Gut 58 (8), 1078-1083 (2009)
   PUBMED   19240061
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 1417)
  AUTHORS   Fiermonte,G., Dolce,V., David,L., Santorelli,F.M., Dionisi-Vici,C.,
            Palmieri,F. and Walker,J.E.
  TITLE     The mitochondrial ornithine transporter. Bacterial expression,
            reconstitution, functional characterization, and tissue
            distribution of two human isoforms
  JOURNAL   J. Biol. Chem. 278 (35), 32778-32783 (2003)
   PUBMED   12807890
  REMARK    GeneRIF: expression, reconstitution, functional characterization,
            and tissue distribution of two human isoforms ORC1 and ORC2
REFERENCE   6  (bases 1 to 1417)
  AUTHORS   Camacho,J.A., Rioseco-Camacho,N., Andrade,D., Porter,J. and Kong,J.
  TITLE     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
  JOURNAL   Mol. Genet. Metab. 79 (4), 257-271 (2003)
   PUBMED   12948741
  REMARK    GeneRIF: Here we identify a new intronless gene, ORNT2, located on
            chromosome 5.
REFERENCE   7  (bases 1 to 1417)
  AUTHORS   Wu,Q., Zhang,T., Cheng,J.F., Kim,Y., Grimwood,J., Schmutz,J.,
            Dickson,M., Noonan,J.P., Zhang,M.Q., Myers,R.M. and Maniatis,T.
  TITLE     Comparative DNA sequence analysis of mouse and human protocadherin
            gene clusters
  JOURNAL   Genome Res. 11 (3), 389-404 (2001)
   PUBMED   11230163
REFERENCE   8  (bases 1 to 1417)
  AUTHORS   Porter,R.K.
  TITLE     Mammalian mitochondrial inner membrane cationic and neutral amino
            acid carriers
  JOURNAL   Biochim. Biophys. Acta 1459 (2-3), 356-362 (2000)
   PUBMED   11004451
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF378119.1, AY208943.1 and
            AF332005.1.
            On Jun 17, 2005 this sequence version replaced gi:13994340.
            
            Summary: Located between the protocadherin beta and gamma gene
            clusters on chromosome 5, this intronless gene encodes a protein
            that is highly similar to an ornithine transporter localized in the
            mitochondrial inner membrane. The encoded protein most likely plays
            a role in metabolism as a mitochondrial transport protein.
            [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript is intronless :: AF378119.1 [ECO:0000345]
            ##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
            1-721               AF378119.1         1-721
            722-1410            AY208943.1         650-1338
            1411-1417           AF332005.1         1231-1237
FEATURES             Location/Qualifiers
     source          1..1417
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31"
     gene            1..1417
                     /gene="SLC25A2"
                     /gene_synonym="ORC2; ORNT2"
                     /note="solute carrier family 25 (mitochondrial carrier;
                     ornithine transporter) member 2"
                     /db_xref="GeneID:83884"
                     /db_xref="HGNC:22921"
                     /db_xref="HPRD:12180"
                     /db_xref="MIM:608157"
     exon            1..1417
                     /gene="SLC25A2"
                     /gene_synonym="ORC2; ORNT2"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    172..174
                     /gene="SLC25A2"
                     /gene_synonym="ORC2; ORNT2"
                     /note="upstream in-frame stop codon"
     STS             181..1136
                     /gene="SLC25A2"
                     /gene_synonym="ORC2; ORNT2"
                     /db_xref="UniSTS:480968"
     CDS             181..1086
                     /gene="SLC25A2"
                     /gene_synonym="ORC2; ORNT2"
                     /note="ornithine transporter 2; solute carrier family 25
                     member 2"
                     /codon_start=1
                     /product="mitochondrial ornithine transporter 2"
                     /protein_id="NP_114153.1"
                     /db_xref="GI:13994341"
                     /db_xref="CCDS:CCDS4258.1"
                     /db_xref="GeneID:83884"
                     /db_xref="HGNC:22921"
                     /db_xref="HPRD:12180"
                     /db_xref="MIM:608157"
                     /translation="
MKSGPGIQAAIDLTAGAAGGTACVLTGQPFDTIKVKMQTFPDLYKGLTDCFLKTYAQVGLRGFYKGTGPALMAYVAENSVLFMCYGFCQQFVRKVAGMDKQAKLSDLQTAAAGSFASAFAALALCPTELVKCRLQTMYEMEMSGKIAKSHNTIWSVVKGILKKDGPLGFYHGLSSTLLQEVPGYFFFFGGYELSRSFFASGRSKDELGPVHLMLSGGVAGICLWLVVFPVDCIKSRIQVLSMYGKQAGFIGTLLSVVRNEGIVALYSGLKATMIRAIPANGALFVAYEYSRKMMMKQLEAY
"
     misc_feature    193..255
                     /gene="SLC25A2"
                     /gene_synonym="ORC2; ORNT2"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXI2.3);
                     transmembrane region"
     misc_feature    199..453
                     /gene="SLC25A2"
                     /gene_synonym="ORC2; ORNT2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXI2.3);
                     Region: Solcar 1"
     misc_feature    214..462
                     /gene="SLC25A2"
                     /gene_synonym="ORC2; ORNT2"
                     /note="Mitochondrial carrier protein; Region: Mito_carr;
                     pfam00153"
                     /db_xref="CDD:201040"
     misc_feature    382..444
                     /gene="SLC25A2"
                     /gene_synonym="ORC2; ORNT2"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXI2.3);
                     transmembrane region"
     misc_feature    490..771
                     /gene="SLC25A2"
                     /gene_synonym="ORC2; ORNT2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXI2.3);
                     Region: Solcar 2"
     misc_feature    508..570
                     /gene="SLC25A2"
                     /gene_synonym="ORC2; ORNT2"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXI2.3);
                     transmembrane region"
     misc_feature    <553..774
                     /gene="SLC25A2"
                     /gene_synonym="ORC2; ORNT2"
                     /note="Mitochondrial carrier protein; Region: Mito_carr;
                     pfam00153"
                     /db_xref="CDD:201040"
     misc_feature    682..744
                     /gene="SLC25A2"
                     /gene_synonym="ORC2; ORNT2"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXI2.3);
                     transmembrane region"
     misc_feature    793..1068
                     /gene="SLC25A2"
                     /gene_synonym="ORC2; ORNT2"
                     /note="Mitochondrial carrier protein; Region: Mito_carr;
                     pfam00153"
                     /db_xref="CDD:201040"
     misc_feature    799..1059
                     /gene="SLC25A2"
                     /gene_synonym="ORC2; ORNT2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXI2.3);
                     Region: Solcar 3"
     misc_feature    808..870
                     /gene="SLC25A2"
                     /gene_synonym="ORC2; ORNT2"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXI2.3);
                     transmembrane region"
     misc_feature    889..951
                     /gene="SLC25A2"
                     /gene_synonym="ORC2; ORNT2"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXI2.3);
                     transmembrane region"
     variation       620
                     /gene="SLC25A2"
                     /gene_synonym="ORC2; ORNT2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:34663948"
     variation       722
                     /gene="SLC25A2"
                     /gene_synonym="ORC2; ORNT2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:3749779"
     variation       856
                     /gene="SLC25A2"
                     /gene_synonym="ORC2; ORNT2"
                     /replace="a"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:3749780"
     variation       939
                     /gene="SLC25A2"
                     /gene_synonym="ORC2; ORNT2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3749781"
     STS             1177..1327
                     /gene="SLC25A2"
                     /gene_synonym="ORC2; ORNT2"
                     /standard_name="RH92610"
                     /db_xref="UniSTS:87951"
     polyA_site      1417
                     /gene="SLC25A2"
                     /gene_synonym="ORC2; ORNT2"
                     /experiment="experimental evidence, no additional details
                     recorded"
ORIGIN      
cggagcgtagggttgagcggcttcccccgcactggggtgagagcccagaacaggcggtagagccaccccaccacccccaactccattccccgcgctcgctgcggctggacgtgaaaagccggtctcacgctctggggagttagtcgccttccactgggaccctcagacgagtgagcgaacatgaagtccggtcctggcatccaagccgccatcgacctcacagcgggggccgcaggggggacagcgtgtgtactgactgggcagcccttcgacacaataaaagtgaagatgcagacgttccctgacctgtacaagggcctcaccgactgcttcctgaagacatacgcccaagtgggtctccggggcttctacaagggcaccggcccggcacttatggcctacgtcgccgaaaactcggtcctcttcatgtgctacgggttctgccagcagtttgtcaggaaagtggctggaatggacaagcaggcaaagctgagtgatctccagactgcagccgcggggtccttcgcctctgcatttgctgcactggctctctgccccactgagcttgtgaagtgccggctacagaccatgtatgaaatggagatgtcagggaagatagcaaaaagccataatacaatttggtctgtcgtgaagggtatccttaaaaaggatggccccttgggcttctaccatggactctcgagtactctacttcaagaagtaccgggttatttctttttctttggtggctatgaactgagccgatcgttttttgcgtcagggagatcaaaagatgaactaggccctgtccatttgatgttaagtggtggagttgctggaatttgcctgtggcttgtcgtgttcccagtggattgtattaaatccagaattcaagttctttccatgtatgggaaacaggcaggatttattggtaccctcttaagtgttgtgagaaatgaaggaatagtagccttatattctggactgaaagctactatgattcgagcaatccctgccaatggggcactgtttgtggcctacgaatacagcaggaagatgatgatgaaacagttggaagcatactgaagtgtcttggtgaacctggatccgagtccatgagtttgaggactacagttcatcacagggttcagcagagtacaagaccactgtctaattttgacttcatgggaattttggttttatcttcccttcttctaccctaaatcttaactttatggaagggcctctattttacatcatataatttctgcccataattgtattgaaataggaaagttgctgctcttgcacttgctggaatgtacagggtgggctggttggccctatgtacctaatctgaaaaactaaatatcgttctgtcagggcctttgcataaagccatttgtgtgtacatgca
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:83884 -> Molecular function: GO:0000064 [L-ornithine transmembrane transporter activity] evidence: NAS
            GeneID:83884 -> Biological process: GO:0000050 [urea cycle] evidence: TAS
            GeneID:83884 -> Biological process: GO:0000066 [mitochondrial ornithine transport] evidence: NAS
            GeneID:83884 -> Biological process: GO:0034641 [cellular nitrogen compound metabolic process] evidence: TAS
            GeneID:83884 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
            GeneID:83884 -> Cellular component: GO:0005743 [mitochondrial inner membrane] evidence: TAS
            GeneID:83884 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA

by @meso_cacase at DBCLS
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