LOCUS       NM_005984               1548 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens solute carrier family 25 member 1 (SLC25A1),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_005984
VERSION     NM_005984.5
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 1548)
  AUTHORS   Zhang,R., Peng,X., Du,J.X., Boohaker,R., Estevao,I.L.,
            Grajeda,B.I., Cox,M.B., Almeida,I.C. and Lu,W.
  TITLE     Oncogenic KRASG12D Reprograms Lipid Metabolism by Upregulating
            SLC25A1 to Drive Pancreatic Tumorigenesis
  JOURNAL   Cancer Res 83 (22), 3739-3752 (2023)
   PUBMED   37695315
  REMARK    GeneRIF: Oncogenic KRASG12D Reprograms Lipid Metabolism by
            Upregulating SLC25A1 to Drive Pancreatic Tumorigenesis.
REFERENCE   2  (bases 1 to 1548)
  AUTHORS   Fernandez-Fuente,G., Overmyer,K.A., Lawton,A.J., Kasza,I.,
            Shapiro,S.L., Gallego-Munoz,P., Coon,J.J., Denu,J.M.,
            Alexander,C.M. and Puglielli,L.
  TITLE     The citrate transporters SLC13A5 and SLC25A1 elicit different
            metabolic responses and phenotypes in the mouse
  JOURNAL   Commun Biol 6 (1), 926 (2023)
   PUBMED   37689798
  REMARK    GeneRIF: The citrate transporters SLC13A5 and SLC25A1 elicit
            different metabolic responses and phenotypes in the mouse.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1548)
  AUTHORS   Rigby,M.J., Orefice,N.S., Lawton,A.J., Ma,M., Shapiro,S.L.,
            Yi,S.Y., Dieterich,I.A., Frelka,A., Miles,H.N., Pearce,R.A.,
            Yu,J.P.J., Li,L., Denu,J.M. and Puglielli,L.
  TITLE     Increased expression of SLC25A1/CIC causes an autistic-like
            phenotype with altered neuron morphology
  JOURNAL   Brain 145 (2), 500-516 (2022)
   PUBMED   35203088
  REMARK    GeneRIF: Increased expression of SLC25A1/CIC causes an
            autistic-like phenotype with altered neuron morphology.
REFERENCE   4  (bases 1 to 1548)
  AUTHORS   Mazurek,M.P., Prasad,P.D., Gopal,E., Fraser,S.P., Bolt,L.,
            Rizaner,N., Palmer,C.P., Foster,C.S., Palmieri,F., Ganapathy,V.,
            Stuhmer,W., Djamgoz,M.B. and Mycielska,M.E.
  TITLE     Molecular origin of plasma membrane citrate transporter in human
            prostate epithelial cells
  JOURNAL   EMBO Rep 11 (6), 431-437 (2010)
   PUBMED   20448665
  REMARK    GeneRIF: The results of molecular cloning of a citrate transporter
            from human normal prostate epithelial PNT2-C2 cells, is reported.
REFERENCE   5  (bases 1 to 1548)
  AUTHORS   Iacobazzi,V., Lauria,G. and Palmieri,F.
  TITLE     Organization and sequence of the human gene for the mitochondrial
            citrate transport protein
  JOURNAL   DNA Seq 7 (3-4), 127-139 (1997)
   PUBMED   9254007
REFERENCE   6  (bases 1 to 1548)
  AUTHORS   Gong,W., Emanuel,B.S., Collins,J., Kim,D.H., Wang,Z., Chen,F.,
            Zhang,G., Roe,B. and Budarf,M.L.
  TITLE     A transcription map of the DiGeorge and velo-cardio-facial syndrome
            minimal critical region on 22q11
  JOURNAL   Hum Mol Genet 5 (6), 789-800 (1996)
   PUBMED   8776594
REFERENCE   7  (bases 1 to 1548)
  AUTHORS   Goldmuntz,E., Wang,Z., Roe,B.A. and Budarf,M.L.
  TITLE     Cloning, genomic organization, and chromosomal localization of
            human citrate transport protein to the DiGeorge/velocardiofacial
            syndrome minimal critical region
  JOURNAL   Genomics 33 (2), 271-276 (1996)
   PUBMED   8660975
REFERENCE   8  (bases 1 to 1548)
  AUTHORS   Heisterkamp,N., Mulder,M.P., Langeveld,A., ten Hoeve,J., Wang,Z.,
            Roe,B.A. and Groffen,J.
  TITLE     Localization of the human mitochondrial citrate transporter protein
            gene to chromosome 22Q11 in the DiGeorge syndrome critical region
  JOURNAL   Genomics 29 (2), 451-456 (1995)
   PUBMED   8666394
REFERENCE   9  (bases 1 to 1548)
  AUTHORS   Kaplan,R.S., Mayor,J.A. and Wood,D.O.
  TITLE     The mitochondrial tricarboxylate transport protein. cDNA cloning,
            primary structure, and comparison with other mitochondrial
            transport proteins
  JOURNAL   J Biol Chem 268 (18), 13682-13690 (1993)
   PUBMED   8514800
REFERENCE   10 (bases 1 to 1548)
  AUTHORS   Abicht,A., Muller,J.S. and Lochmuller,H.
  TITLE     Congenital Myasthenic Syndromes Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301347
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY040162.1 and BC018590.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_005984.4.
            
            Summary: This gene encodes a member of the mitochondrial carrier
            subfamily of solute carrier proteins. Members of this family
            include nuclear-encoded transporters that translocate small
            metabolites across the mitochondrial membrane. This protein
            regulates the movement of citrate across the inner membranes of the
            mitochondria. Mutations in this gene have been associated with
            combined D-2- and L-2-hydroxyglutaric aciduria. Pseudogenes of this
            gene have been identified on chromosomes 7, 11, 16, and 19.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Dec 2013].
            
            Transcript Variant: This variant (1) encodes the shorter isoform
            (a, also known as mCiC).
            
            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 :: SRR1163655.501873.1, L77567.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000215882.10/
                                                  ENSP00000215882.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-115               HY040162.1         128-242
            116-1548            BC018590.1         1-1433
FEATURES             Location/Qualifiers
     source          1..1548
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..1548
                     /gene="SLC25A1"
                     /gene_synonym="CIC; CMS23; CTP; D2L2AD; SEA; SLC20A3"
                     /note="solute carrier family 25 member 1"
                     /db_xref="GeneID:6576"
                     /db_xref="HGNC:HGNC:10979"
                     /db_xref="MIM:190315"
     exon            1..157
                     /gene="SLC25A1"
                     /gene_synonym="CIC; CMS23; CTP; D2L2AD; SEA; SLC20A3"
                     /inference="alignment:Splign:2.1.0"
     CDS             64..999
                     /gene="SLC25A1"
                     /gene_synonym="CIC; CMS23; CTP; D2L2AD; SEA; SLC20A3"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; solute carrier family 20 (mitochondrial citrate
                     transporter), member 3; tricarboxylate carrier protein;
                     tricarboxylate transport protein, mitochondrial; citrate
                     transport protein; solute carrier family 25 (mitochondrial
                     carrier; citrate transporter), member 1; mitochondrial
                     citrate carrier; citrate isocitrate carrier"
                     /codon_start=1
                     /product="tricarboxylate transport protein, mitochondrial
                     isoform a precursor"
                     /protein_id="NP_005975.1"
                     /db_xref="CCDS:CCDS13758.1"
                     /db_xref="GeneID:6576"
                     /db_xref="HGNC:HGNC:10979"
                     /db_xref="MIM:190315"
                     /translation="MPAPRAPRALAAAAPASGKAKLTHPGKAILAGGLAGGIEICITF
                     PTEYVKTQLQLDERSHPPRYRGIGDCVRQTVRSHGVLGLYRGLSSLLYGSIPKAAVRF
                     GMFEFLSNHMRDAQGRLDSTRGLLCGLGAGVAEAVVVVCPMETIKVKFIHDQTSPNPK
                     YRGFFHGVREIVREQGLKGTYQGLTATVLKQGSNQAIRFFVMTSLRNWYRGDNPNKPM
                     NPLITGVFGAIAGAASVFGNTPLDVIKTRMQGLEAHKYRNTWDCGLQILKKEGLKAFY
                     KGTVPRLGRVCLDVAIVFVIYDEVVKLLNKVWKTD"
     exon            158..265
                     /gene="SLC25A1"
                     /gene_synonym="CIC; CMS23; CTP; D2L2AD; SEA; SLC20A3"
                     /inference="alignment:Splign:2.1.0"
     exon            266..365
                     /gene="SLC25A1"
                     /gene_synonym="CIC; CMS23; CTP; D2L2AD; SEA; SLC20A3"
                     /inference="alignment:Splign:2.1.0"
     exon            366..504
                     /gene="SLC25A1"
                     /gene_synonym="CIC; CMS23; CTP; D2L2AD; SEA; SLC20A3"
                     /inference="alignment:Splign:2.1.0"
     exon            505..589
                     /gene="SLC25A1"
                     /gene_synonym="CIC; CMS23; CTP; D2L2AD; SEA; SLC20A3"
                     /inference="alignment:Splign:2.1.0"
     exon            590..694
                     /gene="SLC25A1"
                     /gene_synonym="CIC; CMS23; CTP; D2L2AD; SEA; SLC20A3"
                     /inference="alignment:Splign:2.1.0"
     exon            695..810
                     /gene="SLC25A1"
                     /gene_synonym="CIC; CMS23; CTP; D2L2AD; SEA; SLC20A3"
                     /inference="alignment:Splign:2.1.0"
     exon            811..884
                     /gene="SLC25A1"
                     /gene_synonym="CIC; CMS23; CTP; D2L2AD; SEA; SLC20A3"
                     /inference="alignment:Splign:2.1.0"
     exon            885..1548
                     /gene="SLC25A1"
                     /gene_synonym="CIC; CMS23; CTP; D2L2AD; SEA; SLC20A3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1528..1533
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A1"
                     /gene_synonym="CIC; CMS23; CTP; D2L2AD; SEA; SLC20A3"
                     /note="hexamer: AATAAA"
     polyA_site      1548
                     /gene="SLC25A1"
                     /gene_synonym="CIC; CMS23; CTP; D2L2AD; SEA; SLC20A3"
                     /note="major polyA site"
ORIGIN      
        1 gagcgcggag ttctggagtc tcggacccga agccgccaca gggcgccccg cctcccgccc
       61 gccatgcccg cgccccgcgc cccgcgcgct ctggcggccg ccgcgcccgc gtccgggaag
      121 gccaagctga cgcacccggg gaaggcgatc ctggcaggcg gcctggcggg tggcatcgag
      181 atctgcatca ccttccccac cgagtacgtg aagacgcagc tgcagctgga cgagcgctcg
      241 cacccgccgc ggtaccgggg catcggggac tgcgtgcggc agacggttcg cagccatggc
      301 gtcctgggcc tgtaccgcgg ccttagctcc ctgctctacg gttccatccc caaggcggcc
      361 gtcaggtttg gaatgttcga gttcctcagc aaccacatgc gggatgccca gggacggctg
      421 gacagcacgc gtgggctgct gtgcggcctg ggcgctggcg tggccgaggc cgtggtggtc
      481 gtgtgcccca tggagaccat caaggtgaag ttcatccacg accagacctc cccaaacccc
      541 aagtacagag gattcttcca cggggttagg gagattgtgc gggaacaagg gctgaagggg
      601 acgtaccagg gcctcacagc cactgtcctg aagcagggct cgaaccaggc catccgcttc
      661 ttcgtcatga cctccctgcg caactggtac cgaggggaca accccaacaa gcccatgaac
      721 cctctgatca ctggggtctt cggagctatt gcaggcgcag ccagtgtctt tggaaacact
      781 cctctggatg tgattaagac ccggatgcag ggcctggagg cgcacaaata ccggaacacg
      841 tgggactgcg gcttgcagat cctgaagaag gaggggctca aggcattcta caagggcact
      901 gtcccccgcc tgggccgggt ctgcctggat gtggccatag tgtttgtcat ctatgatgaa
      961 gtggtgaagc tgctcaacaa agtgtggaag acggactaag cctagagagg ccgcaagggg
     1021 accgccccag gcaccgccag agtgtcctgc tacctttgtc tcacgattcc agtgcagtag
     1081 tgccaaaagg ccccttccca cgtccctcga gctctgtagc ctggtctgtg cattgtggct
     1141 gtcaaatcca tgtgtccccc ctgtggtctg tgtgtgacac caccactgtg tcccagtgtc
     1201 tggcccagcc atggctggat gtgcatctgg cctatgaccc tgtgcctgtg tttcatgttc
     1261 tgtgtcacgt gaccctgtgc cccgcctccc ggggtgcccg tgtggcctgg gtcctcggcc
     1321 ctgtagccct ggcccggtcc cagtccggtg ccttccaccc tgccctggcc taccacagct
     1381 gcctccgggc ctcggcctgg cttcaccgca ttccaggggc tgcagccccc tgcttctccc
     1441 gccattggcc ttaactggcc ctcgggccct ctctccgccc cggacagggt ggcacccacc
     1501 actctcagga ccaccctgcc aaggcagaat aaaccggatc ctgttgca
//
