LOCUS       NM_003201               5025 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens transcription factor A, mitochondrial (TFAM),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_003201
VERSION     NM_003201.3
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 5025)
  AUTHORS   De Virgilio,C., Pousis,C., Bruno,S. and Gadaleta,G.
  TITLE     New isoforms of human mitochondrial transcription factor A detected
            in normal and tumoral cells
  JOURNAL   Mitochondrion 11 (2), 287-295 (2011)
   PUBMED   21081181
  REMARK    GeneRIF: comparison between the 5'UTR length and the distribution
            of the different transcripts showed that the transcripts with the
            shortest TFAM 5'UTR are present in all the investigated tissues,
            while the longest 5'UTR seems to be related to tissue-specificity
REFERENCE   2  (bases 1 to 5025)
  AUTHORS   Bruno,S., De Virgilio,C. and Gadaleta,G.
  TITLE     The smaller isoform of the mitochondrial transcription factor A has
            a role in the mitochondrial transcription
  JOURNAL   Ital J Biochem 56 (4), 315-318 (2007)
   PUBMED   19192634
  REMARK    GeneRIF: Data show that overexpression of delta 5Tfam causes an
            increase of mitochondrial transcription, so also this isoform as a
            role in the mitochondrial process.
REFERENCE   3  (bases 1 to 5025)
  AUTHORS   Pastukh,V., Shokolenko,I., Wang,B., Wilson,G. and Alexeyev,M.
  TITLE     Human mitochondrial transcription factor A possesses multiple
            subcellular targeting signals
  JOURNAL   FEBS J 274 (24), 6488-6499 (2007)
   PUBMED   18028422
  REMARK    GeneRIF: Data suggested that the mitochondrial targeting sequence
            of hTFAM may extend beyond the cleavable presequence.
REFERENCE   4  (bases 1 to 5025)
  AUTHORS   Kang,D. and Hamasaki,N.
  TITLE     Mitochondrial transcription factor A in the maintenance of
            mitochondrial DNA: overview of its multiple roles
  JOURNAL   Ann N Y Acad Sci 1042, 101-108 (2005)
   PUBMED   15965051
  REMARK    Review article
REFERENCE   5  (bases 1 to 5025)
  AUTHORS   Reyes,A., Mezzina,M. and Gadaleta,G.
  TITLE     Human mitochondrial transcription factor A (mtTFA): gene structure
            and characterization of related pseudogenes
  JOURNAL   Gene 291 (1-2), 223-232 (2002)
   PUBMED   12095695
REFERENCE   6  (bases 1 to 5025)
  AUTHORS   Larsson,N.G., Oldfors,A., Garman,J.D., Barsh,G.S. and Clayton,D.A.
  TITLE     Down-regulation of mitochondrial transcription factor A during
            spermatogenesis in humans
  JOURNAL   Hum Mol Genet 6 (2), 185-191 (1997)
   PUBMED   9063738
REFERENCE   7  (bases 1 to 5025)
  AUTHORS   Tiranti,V., Rossi,E., Ruiz-Carrillo,A., Rossi,G., Rocchi,M.,
            DiDonato,S., Zuffardi,O. and Zeviani,M.
  TITLE     Chromosomal localization of mitochondrial transcription factor A
            (TCF6), single-stranded DNA-binding protein (SSBP), and
            endonuclease G (ENDOG), three human housekeeping genes involved in
            mitochondrial biogenesis
  JOURNAL   Genomics 25 (2), 559-564 (1995)
   PUBMED   7789991
REFERENCE   8  (bases 1 to 5025)
  AUTHORS   Tominaga,K., Hayashi,J., Kagawa,Y. and Ohta,S.
  TITLE     Smaller isoform of human mitochondrial transcription factor 1: its
            wide distribution and production by alternative splicing
  JOURNAL   Biochem Biophys Res Commun 194 (1), 544-551 (1993)
   PUBMED   8333869
REFERENCE   9  (bases 1 to 5025)
  AUTHORS   Parisi,M.A. and Clayton,D.A.
  TITLE     Similarity of human mitochondrial transcription factor 1 to high
            mobility group proteins
  JOURNAL   Science 252 (5008), 965-969 (1991)
   PUBMED   2035027
REFERENCE   10 (bases 1 to 5025)
  AUTHORS   Fisher,R.P. and Clayton,D.A.
  TITLE     Purification and characterization of human mitochondrial
            transcription factor 1
  JOURNAL   Mol Cell Biol 8 (8), 3496-3509 (1988)
   PUBMED   3211148
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC023170.10, M62810.1 and
            CN478914.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_003201.2.
            
            Summary: This gene encodes a key mitochondrial transcription factor
            containing two high mobility group motifs. The encoded protein also
            functions in mitochondrial DNA replication and repair. Sequence
            polymorphisms in this gene are associated with Alzheimer's and
            Parkinson's diseases. There are pseudogenes for this gene on
            chromosomes 6, 7, and 11. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Aug 2012].
            
            Transcript Variant: This variant (1, also known as ref) encodes the
            longer isoform (1).
            
            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 :: SRR1803614.231383.1,
                                           SRR1660805.215267.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000487519.6/
                                                  ENSP00000420588.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-6                 AC023170.10        137700-137705       c
            7-1942              M62810.1           1-1936
            1943-4376           AC023170.10        124544-126977       c
            4377-5025           CN478914.1         28-676              c
FEATURES             Location/Qualifiers
     source          1..5025
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q21.1"
     gene            1..5025
                     /gene="TFAM"
                     /gene_synonym="MTDPS15; MTTF1; MTTFA; TCF6; TCF6L1;
                     TCF6L2; TCF6L3"
                     /note="transcription factor A, mitochondrial"
                     /db_xref="GeneID:7019"
                     /db_xref="HGNC:HGNC:11741"
                     /db_xref="MIM:600438"
     exon            1..239
                     /gene="TFAM"
                     /gene_synonym="MTDPS15; MTTF1; MTTFA; TCF6; TCF6L1;
                     TCF6L2; TCF6L3"
                     /inference="alignment:Splign:2.1.0"
     CDS             139..879
                     /gene="TFAM"
                     /gene_synonym="MTDPS15; MTTF1; MTTFA; TCF6; TCF6L1;
                     TCF6L2; TCF6L3"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; mitochondrial transcription factor A;
                     transcription factor 6; mitochondrial transcription factor
                     1; transcription factor 6-like 1; transcription factor
                     6-like 3; transcription factor 6-like 2 (mitochondrial
                     transcription factor)"
                     /codon_start=1
                     /product="transcription factor A, mitochondrial isoform 1
                     precursor"
                     /protein_id="NP_003192.1"
                     /db_xref="CCDS:CCDS7253.1"
                     /db_xref="GeneID:7019"
                     /db_xref="HGNC:HGNC:11741"
                     /db_xref="MIM:600438"
                     /translation="MAFLRSMWGVLSALGRSGAELCTGCGSRLRSPFSFVYLPRWFSS
                     VLASCPKKPVSSYLRFSKEQLPIFKAQNPDAKTTELIRRIAQRWRELPDSKKKIYQDA
                     YRAEWQVYKEEISRFKEQLTPSQIMSLEKEIMDKHLKRKAMTKKKELTLLGKPKRPRS
                     AYNVYVAERFQEAKGDSPQEKLKTVKENWKNLSDSEKELYIQHAKEDETRYHNEMKSW
                     EEQMIEVGRKDLLRRTIKKQRKYGAEEC"
     exon            240..358
                     /gene="TFAM"
                     /gene_synonym="MTDPS15; MTTF1; MTTFA; TCF6; TCF6L1;
                     TCF6L2; TCF6L3"
                     /inference="alignment:Splign:2.1.0"
     exon            359..429
                     /gene="TFAM"
                     /gene_synonym="MTDPS15; MTTF1; MTTFA; TCF6; TCF6L1;
                     TCF6L2; TCF6L3"
                     /inference="alignment:Splign:2.1.0"
     exon            430..579
                     /gene="TFAM"
                     /gene_synonym="MTDPS15; MTTF1; MTTFA; TCF6; TCF6L1;
                     TCF6L2; TCF6L3"
                     /inference="alignment:Splign:2.1.0"
     exon            580..675
                     /gene="TFAM"
                     /gene_synonym="MTDPS15; MTTF1; MTTFA; TCF6; TCF6L1;
                     TCF6L2; TCF6L3"
                     /inference="alignment:Splign:2.1.0"
     exon            676..732
                     /gene="TFAM"
                     /gene_synonym="MTDPS15; MTTF1; MTTFA; TCF6; TCF6L1;
                     TCF6L2; TCF6L3"
                     /inference="alignment:Splign:2.1.0"
     exon            733..5025
                     /gene="TFAM"
                     /gene_synonym="MTDPS15; MTTF1; MTTFA; TCF6; TCF6L1;
                     TCF6L2; TCF6L3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1922..1927
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TFAM"
                     /gene_synonym="MTDPS15; MTTF1; MTTFA; TCF6; TCF6L1;
                     TCF6L2; TCF6L3"
                     /note="hexamer: AATAAA"
     polyA_site      1943
                     /gene="TFAM"
                     /gene_synonym="MTDPS15; MTTF1; MTTFA; TCF6; TCF6L1;
                     TCF6L2; TCF6L3"
                     /note="major polyA site"
     regulatory      4969..4974
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TFAM"
                     /gene_synonym="MTDPS15; MTTF1; MTTFA; TCF6; TCF6L1;
                     TCF6L2; TCF6L3"
                     /note="hexamer: AATAAA"
     regulatory      5003..5008
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TFAM"
                     /gene_synonym="MTDPS15; MTTF1; MTTFA; TCF6; TCF6L1;
                     TCF6L2; TCF6L3"
                     /note="hexamer: ACTAAA"
     polyA_site      5021
                     /gene="TFAM"
                     /gene_synonym="MTDPS15; MTTF1; MTTFA; TCF6; TCF6L1;
                     TCF6L2; TCF6L3"
     polyA_site      5025
                     /gene="TFAM"
                     /gene_synonym="MTDPS15; MTTF1; MTTFA; TCF6; TCF6L1;
                     TCF6L2; TCF6L3"
ORIGIN      
        1 atagtgcctc gctagtggcg ggcatgataa cacacgccgg agggtcgcac gcgggttcca
       61 gttgtgattg ctggagttgt gtattgccag gaggctctcc gagattgggg tcgggtcact
      121 gcctcatcca ccggagcgat ggcgtttctc cgaagcatgt ggggcgtgct gagtgccctg
      181 ggaaggtctg gagcagagct gtgcaccggc tgtggaagtc gactgcgctc ccccttcagt
      241 tttgtgtatt taccgaggtg gttttcatct gtcttggcaa gttgtccaaa gaaacctgta
      301 agttcttacc ttcgattttc taaagaacaa ctacccatat ttaaagctca gaacccagat
      361 gcaaaaacta cagaactaat tagaagaatt gcccagcgtt ggagggaact tcctgattca
      421 aagaaaaaaa tatatcaaga tgcttatagg gcggagtggc aggtatataa agaagagata
      481 agcagattta aagaacagct aactccaagt cagattatgt ctttggaaaa agaaatcatg
      541 gacaaacatt taaaaaggaa agctatgaca aaaaaaaaag agttaacact gcttggaaaa
      601 ccaaaaagac ctcgttcagc ttataacgtt tatgtagctg aaagattcca agaagctaag
      661 ggtgattcac cgcaggaaaa gctgaagact gtaaaggaaa actggaaaaa tctgtctgac
      721 tctgaaaagg aattatatat tcagcatgct aaagaggacg aaactcgtta tcataatgaa
      781 atgaagtctt gggaagaaca aatgattgaa gttggacgaa aggatcttct acgtcgcaca
      841 ataaagaaac aacgaaaata tggtgctgag gagtgttaaa agtagaagat tgagatgtgt
      901 tcacaatgga taggcacagg aaaccagtta ggtctcaata cctgaagcta tcgtaaaatt
      961 aagaaaggat aaagttggta aaccttttat atttagtatc tttttattca gctcatggac
     1021 ttctgccagc ataatacttg ctttggaaaa cccagataaa ggttcatgca aactttattt
     1081 tgtgtttagg aactactgag gatcagagta atccaagcaa atgtgaatca ttttaccttt
     1141 gacaaaggta aatcagacta tgaagttttt tttatacagg atgatgacta tggaaagagt
     1201 actcttgttt ccttatatta tggaggcagg agtttcgttt tcaaaattgt tacaaattgt
     1261 agaagccacg gtgttctgtg atataagtgt gtgtttttca taaagcaggc agaactcatc
     1321 taggtaaatt acagttccta ggtataattc acattgtatt cagagttgat ggttgtacat
     1381 ataagtgatt gctggtttta gttgcaactt tgtataaaag ggactgagaa atttataaac
     1441 ttttttctta ctgtcttttt tctaaagtaa aaacaaagaa attatgtgcc agatttatgc
     1501 atattatttt atgttgcata gaataaaatt tttaatcttt aattttacat ttcctaaata
     1561 tattttaaga cgaaacattt gttctatagc ttttcccttt ttttaagtaa ggaattttat
     1621 ttttttctga attattttct ctcgtgagta tattgatcca gaaagaaaac ttgtattatg
     1681 tgtgttttaa aatgagaaat ctaaaaaacg aaaagtctcc aaagtctctg gaatttgaaa
     1741 cactttgcat aacgtataaa agcctgttta agagacagcc aactatggcc tgtggatcaa
     1801 atccagcctg ctgcctgctt tttatggcct gtgagctagg aattgtgttt ataattttaa
     1861 atgttttttt ttaaagactt ttatgatact tgaaaattaa catgaatatt tagtgttcat
     1921 aaataaagtt tgttgaaaca caaccaagat cattctttta cttgtctatg gctgcttttc
     1981 tgtggcagag tagctgccac agaaactata gcccacaaag cctgatattt actgtctgtc
     2041 tgtttatgga aaaaatttat caacccatgg tctatagtat agtgtgatat gactactgtt
     2101 ccaatgtatt gaagtgttgg gatagttttt tcaaatgttt tcagatgttc ttgttttaga
     2161 atcattgtca cctttaagag gaaaaaggtc atcactagat aatctaaaca aattgttgct
     2221 tctcagtgtt agcaaggaaa ataatctagt ttcaaattac attgcagtat aatgaaaaag
     2281 atccatatac tgtggaatga tattctttta aaattatttg ctatggcttg gtaaaaatgt
     2341 actttttcca gtagcacata tcacaagaac ctcactgtag ttgaaagcca tctttcttta
     2401 gtatttgttt atccttttag gagagtcaag caaaggtttt caccacctgt ttgagcagaa
     2461 taattctcat cagttcacag atataggata actcaattta tatgcacttt atgcgttatg
     2521 caaaatattt agaaattgta gattctagat ctccagaaag actttgaaga ctttgatgtc
     2581 acaaaaagat gacttgttat atgctgagct tgacaaaggt aggaatggga gagaaaaata
     2641 gtagcttatg aggaaatatg aggctttaaa tatataaagt tggatatttt aaaataactt
     2701 ttccctgtgg gagcttctca ctctgggtgc agacaggaca gtgttggcca ttggtgaaat
     2761 agataggatg ggtttgaggc cagagcagtc tgggagtagg gggaaagaga aggaggtgtg
     2821 ctagtgtcta tcacaggctt tctcaattag gtttgcagga gaaaaagccc taagtccctg
     2881 tgtcatctag aatggtacta attatgtaca gtccctagga gaatggagaa aatcataact
     2941 caaatcatcg actcaattct gttctcttca gatgagctca gagagcacat aggagtgttt
     3001 gtaatgaggg gtatgtaatg attgagatag aggaatgagt tacataaaca tctcgggaca
     3061 aatgcagcat agaaaacatc tttgtagtta ccctgcgggg aaatttcctc tgagttcttt
     3121 taacattaac tacccgtatt attttatact taacattcat atcatacctt cccaaatata
     3181 ttgggaagtt cagtgttaag tacgtttctc aagtacttaa caacttaata tagggaggaa
     3241 aggtgtaaac agtgaaaaaa gagcaaaact attttatggt aattttatgg tagtatcagc
     3301 ttgtatttgg ttctctgttt ctaaaataat gtaattttta atattttaaa taataggata
     3361 acctggtttc caagcctttt tttcccccga catccagaat acacactgga tccaagcctt
     3421 tcttaaacat cagtacatgt ggaagactgg catgccatat accaaatgcc attcagctgt
     3481 aacagtatac acagattttc tcttataaag aataagaaca tcataaccaa tgaccactca
     3541 tataaagtct tatttgtgtg tgtgtgtgtg tgtgtgtgca cgtgtgtgtg ttagagtctc
     3601 attatattgc tcaggctgga gggcatggtg tgatcttggc tcactgcagc cttgacctcc
     3661 tgggctcaag tgatccttcc gagtcgttgg gactacagta ggtgaacacc accatgcctg
     3721 gctaattttt gtattttttt tttaatcaag atgggatctt gctatgttgc ccaggctggt
     3781 ctcaaactcc tggcatcaag cgttcctcct tccttggcct ccttaagtgc tgggattata
     3841 ggtgtgagcc accatgcttg accataaagc cttactattt cttttggaga cacagtcttg
     3901 ctctgtccaa gctggaatgc agtgatgtga tcatggctca ctgcagcctt gaactcccag
     3961 gcttaagaga tcctcccatc tcagcctcct gagtagctgg gattataggt gcagaccatc
     4021 aagccttgct attatttttt agacttttct taatttcatc caacaaagta gttgctgtag
     4081 gagctgagtg ttagaaggaa agatgctgaa gaaatgaaat caagcagggt gtatactgtc
     4141 atgaataggc atacagtagt ttttatactt ttgttctttg gagtaccaat gttaggtttt
     4201 acaaaagtaa tttgatgagg ggaaggaggg ttgtgtattt attttacttt ctgatgtttg
     4261 cttaaataat actgtgtacg tattcagctt gctgtaattc tgtaattacg ctattgcgtt
     4321 tggctaactc ctttttggaa atgtcttttt ttttgtacaa ggcatgtgtt agtttttact
     4381 aattgctctg aatgtgtata tttagatttc tgaattgaaa aaaaatagcg tacaataagt
     4441 agatttaaag taattagaac actttattga tttttctgat gttttctgta tctaaaattt
     4501 atcaccacca ggttgtgcta aaacagcagg aagtttttat attgtgagtg acagtaccca
     4561 ttatttctct taattttact aacatttact ataagaatat tctctcgctc ttttctccac
     4621 tcacagccat tctccctcct tctcttcata acatcaagct gtcacagaca aatctgaaaa
     4681 tgttacaagc acagactatg ttgtatgttt tgaaatttta gaacagtaat gttcttttta
     4741 aaattgaact tctgcagagt aagaaaatga atacatttat tactttaaat ttgtaaaatt
     4801 ttccaaagta aaaccataca aagctagtgt cagtctctct cattgttcac aaataaagga
     4861 cttttgttaa ttgattaaat cacttactat attcgatatg aaatatataa aacatacaac
     4921 cattatctaa tacatttcag aatgtttcac tggttacagg agccagtaaa taaagttgac
     4981 tctaaacagg aattttaaat aaactaaaca ttttttcatc accaa
//
