LOCUS       NM_014251               3141 bp    mRNA    linear   PRI 18-NOV-2024
DEFINITION  Homo sapiens solute carrier family 25 member 13 (SLC25A13),
            transcript variant 2, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_014251
VERSION     NM_014251.3
KEYWORDS    RefSeq; MANE Select.
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 3141)
  AUTHORS   Lin,J., Lin,W., Lin,Y., Peng,W. and Zheng,Z.
  TITLE     Clinical and genetic analysis of 26 Chinese patients with neonatal
            intrahepatic cholestasis due to citrin deficiency
  JOURNAL   Clin Chim Acta 552, 117617 (2024)
   PUBMED   37890575
  REMARK    GeneRIF: Clinical and genetic analysis of 26 Chinese patients with
            neonatal intrahepatic cholestasis due to citrin deficiency.
REFERENCE   2  (bases 1 to 3141)
  AUTHORS   Jiang,M., Peng,M., Lu,Z., Shao,Y., Liu,Z., Li,X., Lin,Y., Liu,L.,
            Zhang,W. and Cai,Y.
  TITLE     Features of liver injury in 138 Chinese patients with NICCD
  JOURNAL   J Pediatr Endocrinol Metab 36 (12), 1154-1160 (2023)
   PUBMED   37939726
  REMARK    GeneRIF: Features of liver injury in 138 Chinese patients with
            NICCD.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3141)
  AUTHORS   Broeks,M.H., Meijer,N.W.F., Westland,D., Bosma,M., Gerrits,J.,
            German,H.M., Ciapaite,J., van Karnebeek,C.D.M., Wanders,R.J.A.,
            Zwartkruis,F.J.T., Verhoeven-Duif,N.M. and Jans,J.J.M.
  TITLE     The malate-aspartate shuttle is important for de novo serine
            biosynthesis
  JOURNAL   Cell Rep 42 (9), 113043 (2023)
   PUBMED   37647199
REFERENCE   4  (bases 1 to 3141)
  AUTHORS   Sun,W., Zhang,X., Su,H., Wang,X., Qin,F., Gong,X., Wang,B. and
            Yu,F.
  TITLE     Genetic and clinical features of patients with intrahepatic
            cholestasis caused by citrin deficiency
  JOURNAL   J Pediatr Endocrinol Metab 36 (6), 523-529 (2023)
   PUBMED   37146272
  REMARK    GeneRIF: Genetic and clinical features of patients with
            intrahepatic cholestasis caused by citrin deficiency.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3141)
  AUTHORS   Owusu-Ansah,M., Guptan,N., Alindogan,D., Morizono,M. and
            Caldovic,L.
  TITLE     NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of Arginine and
            Pyrimidines Metabolism in Tumor Cells
  JOURNAL   Int J Mol Sci 24 (7), 6754 (2023)
   PUBMED   37047726
  REMARK    GeneRIF: NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of
            Arginine and Pyrimidines Metabolism in Tumor Cells.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3141)
  AUTHORS   Yasuda,T., Yamaguchi,N., Kobayashi,K., Nishi,I., Horinouchi,H.,
            Jalil,M.A., Li,M.X., Ushikai,M., Iijima,M., Kondo,I. and Saheki,T.
  TITLE     Identification of two novel mutations in the SLC25A13 gene and
            detection of seven mutations in 102 patients with adult-onset type
            II citrullinemia
  JOURNAL   Hum Genet 107 (6), 537-545 (2000)
   PUBMED   11153906
  REMARK    GeneRIF: Observational study of genotype prevalence. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3141)
  AUTHORS   Del Arco,A., Agudo,M. and Satrustegui,J.
  TITLE     Characterization of a second member of the subfamily of
            calcium-binding mitochondrial carriers expressed in human
            non-excitable tissues
  JOURNAL   Biochem J 345 Pt 3 (Pt 3), 725-732 (2000)
   PUBMED   10642534
REFERENCE   8  (bases 1 to 3141)
  AUTHORS   Sinasac,D.S., Crackower,M.A., Lee,J.R., Kobayashi,K., Saheki,T.,
            Scherer,S.W. and Tsui,L.C.
  TITLE     Genomic structure of the adult-onset type II citrullinemia gene,
            SLC25A13, and cloning and expression of its mouse homologue
  JOURNAL   Genomics 62 (2), 289-292 (1999)
   PUBMED   10610724
REFERENCE   9  (bases 1 to 3141)
  AUTHORS   Kobayashi,K., Sinasac,D.S., Iijima,M., Boright,A.P., Begum,L.,
            Lee,J.R., Yasuda,T., Ikeda,S., Hirano,R., Terazono,H.,
            Crackower,M.A., Kondo,I., Tsui,L.C., Scherer,S.W. and Saheki,T.
  TITLE     The gene mutated in adult-onset type II citrullinaemia encodes a
            putative mitochondrial carrier protein
  JOURNAL   Nat Genet 22 (2), 159-163 (1999)
   PUBMED   10369257
REFERENCE   10 (bases 1 to 3141)
  AUTHORS   Saheki,T. and Song,Y.Z.
  TITLE     Citrin Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301360
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA118296.1, AC004458.1 and
            BC006566.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_014251.2.
            
            Summary: This gene is a member of the mitochondrial carrier family.
            The encoded protein contains four EF-hand Ca(2+) binding motifs in
            the N-terminal domain, and localizes to mitochondria. The protein
            catalyzes the exchange of aspartate for glutamate and a proton
            across the inner mitochondrial membrane, and is stimulated by
            calcium on the external side of the inner mitochondrial membrane.
            Mutations in this gene result in citrullinemia, type II. Multiple
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, May 2009].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the central coding region, compared to variant 1.
            The resulting isoform (2) lacks one-aa, compared to isoform 1.
            
            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 :: AF118838.1, BC006566.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000265631.10/
                                                  ENSP00000265631.6
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                DA118296.1         50-66
            18-69               AC004458.1         157368-157419
            70-3141             BC006566.2         1-3072
FEATURES             Location/Qualifiers
     source          1..3141
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.3"
     gene            1..3141
                     /gene="SLC25A13"
                     /gene_synonym="ARALAR2; CITRIN; CTLN2; NICCD"
                     /note="solute carrier family 25 member 13"
                     /db_xref="GeneID:10165"
                     /db_xref="HGNC:HGNC:10983"
                     /db_xref="MIM:603859"
     exon            1..157
                     /gene="SLC25A13"
                     /gene_synonym="ARALAR2; CITRIN; CTLN2; NICCD"
                     /inference="alignment:Splign:2.1.0"
     CDS             143..2170
                     /gene="SLC25A13"
                     /gene_synonym="ARALAR2; CITRIN; CTLN2; NICCD"
                     /note="isoform 2 is encoded by transcript variant 2;
                     calcium-binding mitochondrial carrier protein Aralar2;
                     mitochondrial aspartate glutamate carrier 2; solute
                     carrier family 25 (aspartate/glutamate carrier), member
                     13; citrullinemia type II; ARALAR-related gene 2;
                     electrogenic aspartate/glutamate antiporter SLC25A13,
                     mitochondrial"
                     /codon_start=1
                     /product="electrogenic aspartate/glutamate antiporter
                     SLC25A13, mitochondrial isoform 2"
                     /protein_id="NP_055066.1"
                     /db_xref="CCDS:CCDS5645.1"
                     /db_xref="GeneID:10165"
                     /db_xref="HGNC:HGNC:10983"
                     /db_xref="MIM:603859"
                     /translation="MAAAKVALTKRADPAELRTIFLKYASIEKNGEFFMSPNDFVTRY
                     LNIFGESQPNPKTVELLSGVVDQTKDGLISFQEFVAFESVLCAPDALFMVAFQLFDKA
                     GKGEVTFEDVKQVFGQTTIHQHIPFNWDSEFVQLHFGKERKRHLTYAEFTQFLLEIQL
                     EHAKQAFVQRDNARTGRVTAIDFRDIMVTIRPHVLTPFVEECLVAAAGGTTSHQVSFS
                     YFNGFNSLLNNMELIRKIYSTLAGTRKDVEVTKEEFVLAAQKFGQVTPMEVDILFQLA
                     DLYEPRGRMTLADIERIAPLEEGTLPFNLAEAQRQKASGDSARPVLLQVAESAYRFGL
                     GSVAGAVGATAVYPIDLVKTRMQNQRSTGSFVGELMYKNSFDCFKKVLRYEGFFGLYR
                     GLLPQLLGVAPEKAIKLTVNDFVRDKFMHKDGSVPLAAEILAGGCAGGSQVIFTNPLE
                     IVKIRLQVAGEITTGPRVSALSVVRDLGFFGIYKGAKACFLRDIPFSAIYFPCYAHVK
                     ASFANEDGQVSPGSLLLAGAIAGMPAASLVTPADVIKTRLQVAARAGQTTYSGVIDCF
                     RKILREEGPKALWKGAGARVFRSSPQFGVTLLTYELLQRWFYIDFGGVKPMGSEPVPK
                     SRINLPAPNPDHVGGYKLAVATFAGIENKFGLYLPLFKPSVSTSKAIGGGP"
     exon            158..211
                     /gene="SLC25A13"
                     /gene_synonym="ARALAR2; CITRIN; CTLN2; NICCD"
                     /inference="alignment:Splign:2.1.0"
     exon            212..354
                     /gene="SLC25A13"
                     /gene_synonym="ARALAR2; CITRIN; CTLN2; NICCD"
                     /inference="alignment:Splign:2.1.0"
     exon            355..470
                     /gene="SLC25A13"
                     /gene_synonym="ARALAR2; CITRIN; CTLN2; NICCD"
                     /inference="alignment:Splign:2.1.0"
     exon            471..610
                     /gene="SLC25A13"
                     /gene_synonym="ARALAR2; CITRIN; CTLN2; NICCD"
                     /inference="alignment:Splign:2.1.0"
     exon            611..757
                     /gene="SLC25A13"
                     /gene_synonym="ARALAR2; CITRIN; CTLN2; NICCD"
                     /inference="alignment:Splign:2.1.0"
     exon            758..896
                     /gene="SLC25A13"
                     /gene_synonym="ARALAR2; CITRIN; CTLN2; NICCD"
                     /inference="alignment:Splign:2.1.0"
     exon            897..990
                     /gene="SLC25A13"
                     /gene_synonym="ARALAR2; CITRIN; CTLN2; NICCD"
                     /inference="alignment:Splign:2.1.0"
     exon            991..1075
                     /gene="SLC25A13"
                     /gene_synonym="ARALAR2; CITRIN; CTLN2; NICCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1076..1160
                     /gene="SLC25A13"
                     /gene_synonym="ARALAR2; CITRIN; CTLN2; NICCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1161..1319
                     /gene="SLC25A13"
                     /gene_synonym="ARALAR2; CITRIN; CTLN2; NICCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1320..1372
                     /gene="SLC25A13"
                     /gene_synonym="ARALAR2; CITRIN; CTLN2; NICCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1373..1453
                     /gene="SLC25A13"
                     /gene_synonym="ARALAR2; CITRIN; CTLN2; NICCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1454..1594
                     /gene="SLC25A13"
                     /gene_synonym="ARALAR2; CITRIN; CTLN2; NICCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1595..1733
                     /gene="SLC25A13"
                     /gene_synonym="ARALAR2; CITRIN; CTLN2; NICCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1734..1892
                     /gene="SLC25A13"
                     /gene_synonym="ARALAR2; CITRIN; CTLN2; NICCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1893..1983
                     /gene="SLC25A13"
                     /gene_synonym="ARALAR2; CITRIN; CTLN2; NICCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1984..3141
                     /gene="SLC25A13"
                     /gene_synonym="ARALAR2; CITRIN; CTLN2; NICCD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2926..2931
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A13"
                     /gene_synonym="ARALAR2; CITRIN; CTLN2; NICCD"
                     /note="hexamer: AATAAA"
     polyA_site      2946
                     /gene="SLC25A13"
                     /gene_synonym="ARALAR2; CITRIN; CTLN2; NICCD"
                     /note="major polyA site"
     regulatory      3121..3126
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A13"
                     /gene_synonym="ARALAR2; CITRIN; CTLN2; NICCD"
                     /note="hexamer: AATAAA"
     polyA_site      3141
                     /gene="SLC25A13"
                     /gene_synonym="ARALAR2; CITRIN; CTLN2; NICCD"
                     /note="major polyA site"
ORIGIN      
        1 aggcaggcca ggaacgcacg ctgcctggcc gtatcgccgc ccccaccgcc gccgccgccg
       61 ggactagaag tgagccgccc gggtcccaaa cgccagccag ccagtcagtg ggtcccgcag
      121 tcgcccgcaa ccggggcgaa tcatggcggc cgccaaggtg gctttaacca agagagcaga
      181 tccagctgag cttagaacaa tatttttgaa gtatgcaagc attgagaaaa acggtgaatt
      241 tttcatgtcc cccaatgact ttgtcactcg atacttgaac atttttggag aaagccagcc
      301 taatccaaag actgtggaac ttttaagtgg agtggtggat cagaccaaag atggattaat
      361 atcttttcaa gaatttgttg cctttgaatc tgtcctgtgt gcccctgatg ctttgtttat
      421 ggtagccttt cagctgtttg acaaagctgg caaaggagaa gtaacttttg aggatgttaa
      481 gcaagttttt ggacagacca caattcatca acatattcca tttaactggg attcagaatt
      541 tgtgcaacta cattttggaa aagaaagaaa aagacacctg acatatgcgg aatttactca
      601 gtttttattg gaaatacaac tggagcacgc aaagcaagcc tttgtgcaac gggacaatgc
      661 taggactggg agagtcacag ccatcgactt ccgagacatc atggtcacca tccgccccca
      721 tgtcttgact ccttttgtag aagaatgtct agtagctgct gctggaggta ccacatccca
      781 tcaagttagt ttctcctatt ttaatggatt taattcgctc cttaacaaca tggaactcat
      841 tagaaagatc tatagcactc tggctggcac caggaaagat gttgaagtga ctaaggagga
      901 gtttgttctg gcagctcaga aatttggtca ggttacaccc atggaagttg acatcttgtt
      961 tcagttagca gatttatatg agccaagggg acgtatgacc ttagcagaca ttgaacggat
     1021 tgctcctctg gaagagggaa ctctgccctt taacttggct gaggcccaga ggcagaaggc
     1081 ctcaggtgat tcagctcgac cagttcttct acaagttgca gagtcggcct acaggtttgg
     1141 tctgggttct gttgctggag ctgttggagc cactgctgtg tatcctatcg atcttgtaaa
     1201 aactcgaatg cagaaccaac gatcaactgg ctcttttgtg ggagaactca tgtataaaaa
     1261 cagctttgac tgttttaaga aagtgctacg ctatgaaggc ttctttggac tgtatagagg
     1321 tctgttgcca cagttattgg gagttgcccc agagaaggcc ataaaactta cagtgaacga
     1381 ttttgtgagg gataaattta tgcacaaaga tggttcggtc ccacttgcag cagaaattct
     1441 tgctggaggc tgcgctggag gctcccaggt gattttcaca aatcctttag aaatcgtcaa
     1501 gatccgtttg caagtggcag gagaaatcac cactggtcct cgagtcagtg ctctgtctgt
     1561 cgtgcgggac ctggggtttt ttgggatcta caagggtgcc aaagcatgct ttctgcggga
     1621 cattcctttc tcggccatct actttccgtg ctatgctcat gtgaaggctt cctttgcaaa
     1681 tgaagatggg caggttagcc caggaagcct gctcttagct ggtgccatag ctggtatgcc
     1741 tgcagcatct ttagtgaccc ctgctgatgt tatcaagacg agattacagg tggctgcccg
     1801 ggctggccaa accacttaca gcggagtgat agactgcttt agaaagatac tgcgtgaaga
     1861 aggaccaaaa gctctgtgga agggagctgg tgctcgtgta tttcgatcct caccccagtt
     1921 tggtgtaact ttgctgactt acgaattgct acagcgatgg ttctacattg attttggagg
     1981 agtaaaaccc atgggatcag agccagttcc taaatccagg atcaacctgc ctgccccgaa
     2041 tcctgatcac gttgggggct acaaactggc agttgctaca tttgcaggga ttgaaaacaa
     2101 atttggactt tacctacctc tcttcaagcc atcagtatct acctcaaagg ctattggtgg
     2161 aggcccatag gaagatcagc cctgggatag tgctgtcttt ttgtgggtac tgcagtaaag
     2221 aacatccctc ctgggaatga agcaatgctt catccctttt acgtccatct cttgtttaaa
     2281 ttcaagtcca ggctttttta tcatgtgaaa tcattcattt tctgggtgtt ttcttaacca
     2341 gatcattgtg aaattattca taattattat ttggccctct gcccagaaac ctttgtttgc
     2401 atctgaaaat tgatgggatt tggtcaacac taacatgatt tggggaaagg agcaagtcag
     2461 aatagaaatt agtactcccc tccttgaact aggattgtag tcccaaagag gctactgtaa
     2521 ggcaatcatg gtgctcagag cagtgtttcg tgtgtgtttt aaactggtag gaaactaggt
     2581 gcatatttat aaaaataaaa aacactggga gaaatgaaaa aatatatatc aaatatattc
     2641 agcctggctt caaattgtaa gcatgcacaa attctgtctc tggattatat tatgaagctt
     2701 ttatgtgaaa catgtttctt tgtaatgaaa accacattgg agatgtttag taatcatatt
     2761 gttactggta ccaagactac tagggaaatg cctttgtact ttagggaagt acttttggca
     2821 ttttactgta cagacagaaa aaactgagat gtagcccctc tcctggaagt gctaattttg
     2881 aaaaactgct catatgatgt acatgtactg attactgcct attttaataa acactcttga
     2941 aaaatgcatg ttgccctgtt gctgcctgcc ctattctcct catctcccca tcattggtac
     3001 ccacttgctt ttaaaatcca ctttatcttg aataatgtaa gacaaatatg ttctgacata
     3061 agtatttaat tcatgttgcc ttgcataatg gtcagaggcg catgaatttg tgaaggtgga
     3121 aataaactat ttgtaaagtg a
//
