LOCUS       NM_001104647            5697 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens solute carrier family 25 member 36 (SLC25A36),
            transcript variant 1, mRNA.
ACCESSION   NM_001104647
VERSION     NM_001104647.3
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 5697)
  AUTHORS   Safran,A., Proskorovski-Ohayon,R., Eskin-Schwartz,M., Yogev,Y.,
            Drabkin,M., Eremenko,E., Aharoni,S., Freund,O., Jean,M.M., Agam,N.,
            Hadar,N., Loewenthal,N., Staretz-Chacham,O. and Birk,O.S.
  TITLE     Hyperinsulinism/hyperammonemia syndrome caused by biallelic
            SLC25A36 mutation
  JOURNAL   J Inherit Metab Dis 46 (4), 744-755 (2023)
   PUBMED   36695547
  REMARK    GeneRIF: Hyperinsulinism/hyperammonemia syndrome caused by
            biallelic SLC25A36 mutation.
REFERENCE   2  (bases 1 to 5697)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   3  (bases 1 to 5697)
  AUTHORS   Di Noia,M.A., Todisco,S., Cirigliano,A., Rinaldi,T., Agrimi,G.,
            Iacobazzi,V. and Palmieri,F.
  TITLE     The human SLC25A33 and SLC25A36 genes of solute carrier family 25
            encode two mitochondrial pyrimidine nucleotide transporters
  JOURNAL   J Biol Chem 289 (48), 33137-33148 (2014)
   PUBMED   25320081
  REMARK    GeneRIF: The main physiological role of SLC25A33 and SLC25A36 is to
            import/export pyrimidine nucleotides into and from mitochondria
REFERENCE   4  (bases 1 to 5697)
  AUTHORS   Winham,S.J., Cuellar-Barboza,A.B., Oliveros,A., McElroy,S.L.,
            Crow,S., Colby,C., Choi,D.S., Chauhan,M., Frye,M. and
            Biernacka,J.M.
  TITLE     Genome-wide association study of bipolar disorder accounting for
            effect of body mass index identifies a new risk allele in TCF7L2
  JOURNAL   Mol Psychiatry 19 (9), 1010-1016 (2014)
   PUBMED   24322204
REFERENCE   5  (bases 1 to 5697)
  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.
            Review article
REFERENCE   6  (bases 1 to 5697)
  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   7  (bases 1 to 5697)
  AUTHORS   Baranzini,S.E., Wang,J., Gibson,R.A., Galwey,N., Naegelin,Y.,
            Barkhof,F., Radue,E.W., Lindberg,R.L., Uitdehaag,B.M.,
            Johnson,M.R., Angelakopoulou,A., Hall,L., Richardson,J.C.,
            Prinjha,R.K., Gass,A., Geurts,J.J., Kragt,J., Sombekke,M.,
            Vrenken,H., Qualley,P., Lincoln,R.R., Gomez,R., Caillier,S.J.,
            George,M.F., Mousavi,H., Guerrero,R., Okuda,D.T., Cree,B.A.,
            Green,A.J., Waubant,E., Goodin,D.S., Pelletier,D., Matthews,P.M.,
            Hauser,S.L., Kappos,L., Polman,C.H. and Oksenberg,J.R.
  TITLE     Genome-wide association analysis of susceptibility and clinical
            phenotype in multiple sclerosis
  JOURNAL   Hum Mol Genet 18 (4), 767-778 (2009)
   PUBMED   19010793
REFERENCE   8  (bases 1 to 5697)
  AUTHORS   Stelzl,U., Worm,U., Lalowski,M., Haenig,C., Brembeck,F.H.,
            Goehler,H., Stroedicke,M., Zenkner,M., Schoenherr,A., Koeppen,S.,
            Timm,J., Mintzlaff,S., Abraham,C., Bock,N., Kietzmann,S.,
            Goedde,A., Toksoz,E., Droege,A., Krobitsch,S., Korn,B.,
            Birchmeier,W., Lehrach,H. and Wanker,E.E.
  TITLE     A human protein-protein interaction network: a resource for
            annotating the proteome
  JOURNAL   Cell 122 (6), 957-968 (2005)
   PUBMED   16169070
REFERENCE   9  (bases 1 to 5697)
  AUTHORS   Laganiere,J., Deblois,G. and Giguere,V.
  TITLE     Functional genomics identifies a mechanism for estrogen activation
            of the retinoic acid receptor alpha1 gene in breast cancer cells
  JOURNAL   Mol Endocrinol 19 (6), 1584-1592 (2005)
   PUBMED   15831516
REFERENCE   10 (bases 1 to 5697)
  AUTHORS   Hildyard,J.C. and Halestrap,A.P.
  TITLE     Identification of the mitochondrial pyruvate carrier in
            Saccharomyces cerevisiae
  JOURNAL   Biochem J 374 (Pt 3), 607-611 (2003)
   PUBMED   12887330
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC132032.1 and AC108727.6.
            
            On Aug 31, 2019 this sequence version replaced NM_001104647.2.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            
            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 :: SRR18074967.3040687.1,
                                           SRR14038195.1053871.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000324194.12/ ENSP00000320688.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-260               AC132032.1         30787-31046         c
            261-425             AC132032.1         16191-16355         c
            426-503             AC132032.1         13342-13419         c
            504-604             AC132032.1         9655-9755           c
            605-671             AC132032.1         1889-1955           c
            672-961             AC108727.6         152770-153059       c
            962-5697            AC108727.6         145780-150515       c
FEATURES             Location/Qualifiers
     source          1..5697
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q23"
     gene            1..5697
                     /gene="SLC25A36"
                     /gene_synonym="HHF8; PNC2"
                     /note="solute carrier family 25 member 36"
                     /db_xref="GeneID:55186"
                     /db_xref="HGNC:HGNC:25554"
                     /db_xref="MIM:616149"
     exon            1..260
                     /gene="SLC25A36"
                     /gene_synonym="HHF8; PNC2"
                     /inference="alignment:Splign:2.1.0"
     CDS             220..1155
                     /gene="SLC25A36"
                     /gene_synonym="HHF8; PNC2"
                     /note="isoform a is encoded by transcript variant 1;
                     solute carrier family 25 (pyrimidine nucleotide carrier),
                     member 36; epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="solute carrier family 25 member 36 isoform a"
                     /protein_id="NP_001098117.1"
                     /db_xref="CCDS:CCDS46927.1"
                     /db_xref="GeneID:55186"
                     /db_xref="HGNC:HGNC:25554"
                     /db_xref="MIM:616149"
                     /translation="MSQRDTLVHLFAGGCGGTVGAILTCPLEVVKTRLQSSSVTLYIS
                     EVQLNTMAGASVNRVVSPGPLHCLKVILEKEGPRSLFRGLGPNLVGVAPSRAIYFAAY
                     SNCKEKLNDVFDPDSTQVHMISAAMAGFTAITATNPIWLIKTRLQLDARNRGERRMGA
                     FECVRKVYQTDGLKGFYRGMSASYAGISETVIHFVIYESIKQKLLEYKTASTMENDEE
                     SVKEASDFVGMMLAAATSKTCATTIAYPHEVVRTRLREEGTKYRSFFQTLSLLVQEEG
                     YGSLYRGLTTHLVRQIPNTAIMMATYELVVYLLNG"
     exon            261..425
                     /gene="SLC25A36"
                     /gene_synonym="HHF8; PNC2"
                     /inference="alignment:Splign:2.1.0"
     exon            426..503
                     /gene="SLC25A36"
                     /gene_synonym="HHF8; PNC2"
                     /inference="alignment:Splign:2.1.0"
     exon            504..604
                     /gene="SLC25A36"
                     /gene_synonym="HHF8; PNC2"
                     /inference="alignment:Splign:2.1.0"
     exon            605..671
                     /gene="SLC25A36"
                     /gene_synonym="HHF8; PNC2"
                     /inference="alignment:Splign:2.1.0"
     exon            672..961
                     /gene="SLC25A36"
                     /gene_synonym="HHF8; PNC2"
                     /inference="alignment:Splign:2.1.0"
     exon            962..5697
                     /gene="SLC25A36"
                     /gene_synonym="HHF8; PNC2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4621..4626
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A36"
                     /gene_synonym="HHF8; PNC2"
                     /note="hexamer: ATTAAA"
     polyA_site      4641
                     /gene="SLC25A36"
                     /gene_synonym="HHF8; PNC2"
                     /note="major polyA site"
     regulatory      5669..5674
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A36"
                     /gene_synonym="HHF8; PNC2"
                     /note="hexamer: AATACA"
     polyA_site      5697
                     /gene="SLC25A36"
                     /gene_synonym="HHF8; PNC2"
ORIGIN      
        1 agcctctggt gaagggcggc gcgcttaggc aggcggtggc gcggctggag tgccgcgggg
       61 agggctgtgc cggttgcttt ctgcagccgc atctcggcca gctctcctcg ccgtccccgg
      121 ggcgctgtgc gtctccagtc cgggaccgaa gccgcctgcc gtagcgggcg gccagatccg
      181 cgtcccgcct cagcggccgg aggacatgcg ggagagagaa tgagccagag ggacacgctg
      241 gtgcatctgt ttgccggagg atgtggtggt acagtgggag ctattctgac atgtccactg
      301 gaagttgtaa aaacacgact gcagtcatct tctgtgacgc tttatatttc tgaagttcag
      361 ctgaacacca tggctggagc cagtgtcaac cgagtagtgt ctcccggacc tcttcattgc
      421 ctaaaggtga tcttggaaaa agaagggcct cgttccttgt ttagaggact aggccccaat
      481 ttagtggggg tagccccttc cagagcaata tactttgctg cttattcaaa ctgcaaggaa
      541 aagttgaatg atgtatttga tcctgattct acccaagtac atatgatttc agctgcaatg
      601 gcaggtttta ctgcaatcac agcaaccaac cccatttggc ttataaagac tcggttacag
      661 cttgatgcaa ggaaccgcgg ggaaaggcga atgggtgctt ttgaatgtgt tcgtaaagtg
      721 tatcagacag atggactaaa aggattttat aggggcatgt ctgcttcata tgctggtata
      781 tcagagactg ttatccattt tgttatttat gaaagtataa aacaaaaact actggaatat
      841 aagactgctt ctacaatgga aaatgatgaa gagtctgtga aagaagcatc agattttgtg
      901 ggaatgatgc tagctgctgc cacctcaaaa acttgtgcca caactatagc atatccacat
      961 gaagttgtaa gaacaagact acgtgaagag ggaacaaaat acagatcttt ttttcagact
     1021 ctatctttgc ttgttcaaga agaaggttat gggtctcttt atcgtggtct gacaactcat
     1081 ctagtgagac agattccaaa cacagccatt atgatggcca cctatgaatt ggtggtttac
     1141 ctactcaatg gatagcagca cgaggactgc tgtactgcaa aaaaagaaga ccaaaagatt
     1201 acagtggacc atgggataca gaagccagca tggcagacag aagaaaaata gtttgggaac
     1261 atgtaactat tctaagtgga agttttgttg taggaattat agtaatcaca ccacattact
     1321 tggcctttcg gtaatgtgaa aaaaaaaaaa aacctcagag cctccaagga aatgccttta
     1381 gaagcactcc tctctcaaaa ttgccatttt ctctaccatg tcccccagac acagttgggt
     1441 tttgttgatt tatggcagtc ttctaaacaa agccatcctt aattttacat actgtattgt
     1501 aactatccaa agatagtatt ggcagtcata aatttataac ttctggcctt tgtttaattc
     1561 cagtaaaata acagcaatga caatgagatc gtcagtatta ttttcacatt tccctgagag
     1621 gacctggcac aatattttaa atttaattat ttggcagtag tcactgtttt tgacaaccaa
     1681 tgaaatagcg tctaaatatc ttgtatattt tttagcatca aaatgttttg gtttccactg
     1741 ctgacaggtg cttgttgttt agcctaatgt ggatatttaa attgttaaca taccaaacac
     1801 acatggtaat agtttgggac aaaataacta gtaaaatgtt gatttctcgg ctttttcact
     1861 gactgcggca tgtcctcgtg tcttctctga ttttgtggta catgaatgaa tgcatttatc
     1921 tttttagtga cttactagtt acgaacttga attatcacct ctttgtcata cttaagtatc
     1981 atttacataa agtgtaaaag attttttcac ttttgaatct ttacctactt gctttcacat
     2041 taagaatttg aacttttgag ttttttccag gtctatatat aatagattac atttattttg
     2101 taaagaaaat agtaatttaa agttttgcca ttttaaggtg acaatatttg ggacagtata
     2161 aatattatag acaagggccc ccttgctgtc tgctttagca ggtagtgaca ttaattgact
     2221 tatagttttg tgtaaatgaa caaactgctt ttgacaagaa atttattctg tcctagtttc
     2281 ctgcgtggta aatcatagaa agattcaagt tcatttgggt taaatgtgct aataggatgt
     2341 agcttttaaa ttctgctatt gagtcagctg taccttttaa tactttaaat gtgttatttg
     2401 tatggccctt ataaaggtgt ttgctgtaat tctgttaaaa gacttcgcct atgccatact
     2461 ggtgtataaa aactgccgca attggacgcc ggtgtggtac tcatttcagt atacctgaac
     2521 tgtacatttt gtgcaatggc tttatctaaa agaatgacgc ttcgtgaaag cactttgtgg
     2581 ccttttttgg gggggagggt gagagagtag gagagaatac catgttaaga ttaaaaaaaa
     2641 aaacaaaaac attggtcacg tattaggcag aaacagtgtt cataacattt ttctgggttt
     2701 taaatatgtt gtttcggata tccttaatat aaatgtttta ggtattctgt gtaccctgtc
     2761 gtacccccaa cattatagaa tattgcagcg tgtcattgca agctttctct gctgtcacca
     2821 gtgaaacata gtgccctgtt aaattccccc actttaactt ccttgtgatc aacagtaact
     2881 ggatgttttt gaggtgctca attggaataa aaatattcca atctatttgg agaccaaagg
     2941 caaaatcagt tttcttacct ttggaattat tcgtaccttt tatggtaaat ttcagctttg
     3001 acatgtatta tgaggaacgt accaaaaacc ggtttgtaac aaatctgtag agaaggtctg
     3061 aatctatcgt gtttgccttt tcaggtgcca tttctactgc ctaatacagt gccatttgcc
     3121 ttgtgaagac ccataaacat tcattgtgtt gaatgtaaga tagagactct ccctagtctt
     3181 actgatctca gtaccccaca aatgattaag aatgatatga aaaccagcag ctaaggaaca
     3241 tcttattatt tagttgtagc atattcataa caagtgtcct tcaaggataa acatatattc
     3301 tctatttgta tttagcaagt aaaacttgtg ttgaccttta gtgcattata ttcagctttt
     3361 aacagtatta tgtatgtact ggaaagcaaa gaaatcttag agtcttggac attgtttatt
     3421 tgtgcaacaa ctagaaagga gcaatgaagt ttatttcagt tgtatttttc cctaagcaca
     3481 atctgcaata gtttatgtat gacagagata attcaaaaag gaaaactata tataaaagtt
     3541 gtatataaag tttgtctctg aaatatttct ttgaagtttt taaaaaatcg actcatgttt
     3601 aaaaacaaaa acacatattc agagcattgg acttttttaa cttgttttca tctgtttatc
     3661 atgacttttt tatttctggt gtagagtcca cattatttag tttgttgtac ttttaaattt
     3721 caaagttcaa atctgaagaa ttagcgtttg tgatttcggg ataccatgca gtggttttaa
     3781 tcccaggaaa aaaactatca ccaaaagttc gtttgattct cattatgtaa ctttgtagaa
     3841 ccatcctttc tagatgggtc caccacagtg aatttgtaac tttgaagtca ggatagaata
     3901 tcattagatt atctgtgaga tagcattact atgttaggac cagcagagtt tgggttggta
     3961 aaaataatgt ttgctctatt actgggttac agacatttca gcatttttag gttggtttta
     4021 aatcactaaa aatatttatt cggatttgaa ggatttaagt gctaaaaatc aatccatttc
     4081 ttgcccttca ataattgtcc atgcctgcct tttgttgttt acatgctctt ctgcccagac
     4141 tgttagtaat ctagggaccc cctttggagc tgataagtac agttcagcct tttctcctca
     4201 aatatataat gactttaaca ttcctaagaa tataggtatt tctgaatgat ttaaatttga
     4261 ggaattttaa tacataaaat acaatgtaca aactttctgc ccactcagat ctcttctcca
     4321 tcatgtactt agtatttccc attaacctac acactgattt ttatgctact ccttgtagaa
     4381 acaaaattct ggtttgactc agtttttgtg tttataaact tttggaatgt gtaccccgtt
     4441 tatgtgaaga attatgacct atcagtcata gctaaatagt gaacctcaaa agtgttaact
     4501 tttgactatt catgtgaggt ttggtatctt gcatttatgt acatggctgt aaattatgtg
     4561 catttactct gtatttatgt tatctagctg acttttactt gaattgttca aattttaaaa
     4621 attaaaatac gctcatgaaa atatggcttt ttctgtaata tatcaacatt ttattgagaa
     4681 cataatcaca cttttttgga ttatcctatg tgtggaacaa aaatccattg ccattttcag
     4741 gttaagtttt aggctcgctt gattcagtca gcaaacctta tcttgagcac tttgtatctg
     4801 ttagatctag tgatgtctga aggaacccaa aggtcaagta atccaactcc ctcatagtgt
     4861 acaaagaaat cttgcatatc ttccacaggt ttattgactt ttatccaaca cttttcatgt
     4921 tttaatttca gcctttgtga aagttgatat taaaaataca gaggtgagaa cttgttagaa
     4981 taaccaaatg aatccacata atgttagatc aaaatacaaa tgacaaagat aaaatgctat
     5041 gtagtgccta ccctctttac attttgtcta ttttatttaa gtttttctgt attgtagtta
     5101 acatcaaaca ttgtccagtc ttgaggaaac caggacgaaa tatattttgt atttcaacat
     5161 tgacataaat ctgaaattgt tggttctact aatagtactc tgcactgaag gcactggcaa
     5221 aataatggtt aaaattgagc acaggtgttc caagttgtgt gtgtgtgttt attactgaac
     5281 attgggagcc gtgataggga agtaatttgt gagttcatga tttcttaagg ttctagtgtg
     5341 acatttatac actgataaaa ctcaggcaag caaaatgtaa ttaaatgttc cccctgcccc
     5401 cccccccttt taatatatat acacggagct tcactcttgt cacccatgct ggagtgcaat
     5461 gacatgatct caggtcactg caacctctgc ctcccgggtt caagcgattc tgcctcagcc
     5521 tgacttccct tctgtttctt tattttcgca ctgtgtagac cagctgactg ccttaatatg
     5581 tattgaatca attcaagatt tatgttcata gagtgctgtg tttatacagt ggtgtcatgt
     5641 gatttcttaa tagcctatag atccaataaa tacagaggaa tattagttac aactgga
//
