LOCUS       NM_206965               1890 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens formimidoyltransferase cyclodeaminase (FTCD),
            transcript variant A, mRNA.
ACCESSION   NM_206965
VERSION     NM_206965.2
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 1890)
  AUTHORS   Kaneko,Y., Shimoda,K., Ayala,R., Goto,Y., Panico,S., Zhang,X. and
            Kondo,H.
  TITLE     p97 and p47 function in membrane tethering in cooperation with FTCD
            during mitotic Golgi reassembly
  JOURNAL   EMBO J 40 (9), e105853 (2021)
   PUBMED   33555040
  REMARK    GeneRIF: p97 and p47 function in membrane tethering in cooperation
            with FTCD during mitotic Golgi reassembly.
REFERENCE   2  (bases 1 to 1890)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1890)
  AUTHORS   Labib,O.H., Harb,O.A., Khalil,O.H., Baiomy,T.A., Gertallah,L.M. and
            Ahmed,R.Z.
  TITLE     The Diagnostic Value of Arginase-1, FTCD, and MOC-31 Expression in
            Early Detection of Hepatocellular Carcinoma (HCC) and in
            Differentiation Between HCC and Metastatic Adenocarcinoma to the
            Liver
  JOURNAL   J Gastrointest Cancer 51 (1), 88-101 (2020)
   PUBMED   30784016
  REMARK    GeneRIF: The Diagnostic Value of Arginase-1, FTCD, and MOC-31
            Expression in Early Detection of Hepatocellular Carcinoma (HCC) and
            in Differentiation Between HCC and Metastatic Adenocarcinoma to the
            Liver.
REFERENCE   4  (bases 1 to 1890)
  AUTHORS   Pierce,B.L., Tong,L., Dean,S., Argos,M., Jasmine,F.,
            Rakibuz-Zaman,M., Sarwar,G., Islam,M.T., Shahriar,H., Islam,T.,
            Rahman,M., Yunus,M., Lynch,V.J., Oglesbee,D., Graziano,J.H.,
            Kibriya,M.G., Gamble,M.V. and Ahsan,H.
  TITLE     A missense variant in FTCD is associated with arsenic metabolism
            and toxicity phenotypes in Bangladesh
  JOURNAL   PLoS Genet 15 (3), e1007984 (2019)
   PUBMED   30893314
  REMARK    GeneRIF: the minor allele (A) of rs61735836 (p.Val101Met) in exon 3
            of FTCD was associated with increased urinary Inorganic arsenics %
            (P = 8x10-13), increased mono-methylated arsenic % (P = 2x10-16)
            and decreased di-methylated arsenic % (P = 6x10-23).
            Erratum:[PLoS Genet. 2019 May 20;15(5):e1008172. doi:
            10.1371/journal.pgen.1008172.. PMID: 31107898]
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1890)
  AUTHORS   Greenwood,P.M., Schmidt,K., Lin,M.K., Lipsky,R., Parasuraman,R. and
            Jankord,R.
  TITLE     A functional promoter variant of the human formimidoyltransferase
            cyclodeaminase (FTCD) gene is associated with working memory
            performance in young but not older adults
  JOURNAL   Neuropsychology 32 (8), 973-984 (2018)
   PUBMED   29927301
  REMARK    GeneRIF: The rs914246 variant, but not the rs914245 variant, of the
            FTCD gene modulated accuracy in the task for younger, but not
            older, people under high working memory
REFERENCE   6  (bases 1 to 1890)
  AUTHORS   Renous,R., Lapierre,P., Djilali-Saiah,I., Vitozzi,S. and Alvarez,F.
  TITLE     Characterization of the antigenicity of the
            formiminotransferase-cyclodeaminase in type 2 autoimmune hepatitis
  JOURNAL   Exp Cell Res 292 (2), 332-341 (2004)
   PUBMED   14697341
REFERENCE   7  (bases 1 to 1890)
  AUTHORS   Hilton,J.F., Christensen,K.E., Watkins,D., Raby,B.A., Renaud,Y., de
            la Luna,S., Estivill,X., MacKenzie,R.E., Hudson,T.J. and
            Rosenblatt,D.S.
  TITLE     The molecular basis of glutamate formiminotransferase deficiency
  JOURNAL   Hum Mutat 22 (1), 67-73 (2003)
   PUBMED   12815595
  REMARK    GeneRIF: Disease-causing mutations have been identified in the FTCD
            gene in three patients with the putative autosomal recessive
            disorder glutamate formiminotransferase deficiency.
            Erratum:[Hum Mutat. 2003 Nov;22(5):416]
REFERENCE   8  (bases 1 to 1890)
  AUTHORS   Solans,A., Estivill,X. and de la Luna,S.
  TITLE     Cloning and characterization of human FTCD on 21q22.3, a candidate
            gene for glutamate formiminotransferase deficiency
  JOURNAL   Cytogenet Cell Genet 88 (1-2), 43-49 (2000)
   PUBMED   10773664
REFERENCE   9  (bases 1 to 1890)
  AUTHORS   Lapierre,P., Hajoui,O., Homberg,J.C. and Alvarez,F.
  TITLE     Formiminotransferase cyclodeaminase is an organ-specific
            autoantigen recognized by sera of patients with autoimmune
            hepatitis
  JOURNAL   Gastroenterology 116 (3), 643-649 (1999)
   PUBMED   10029623
REFERENCE   10 (bases 1 to 1890)
  AUTHORS   Hennig,D., Scales,S.J., Moreau,A., Murley,L.L., De Mey,J. and
            Kreis,T.E.
  TITLE     A formiminotransferase cyclodeaminase isoform is localized to the
            Golgi complex and can mediate interaction of trans-Golgi
            network-derived vesicles with microtubules
  JOURNAL   J Biol Chem 273 (31), 19602-19611 (1998)
   PUBMED   9677386
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001468.1, AF289021.1,
            BM021970.1, AF169017.1 and AA719282.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_206965.1.
            
            Summary: The protein encoded by this gene is a bifunctional enzyme
            that channels 1-carbon units from formiminoglutamate, a metabolite
            of the histidine degradation pathway, to the folate pool. Mutations
            in this gene are associated with glutamate formiminotransferase
            deficiency. Alternatively spliced transcript variants have been
            found for this gene.[provided by RefSeq, Dec 2009].
            
            Transcript Variant: This variant (A) represents the predominant
            transcript. Variants A and B encode the same protein (isoform A).
            
            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 :: AF169017.1, BC136395.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2162895
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000397746.8/ ENSP00000380854.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                AP001468.1         1099-1110           c
            13-1447             AF289021.1         1-1435
            1448-1708           BM021970.1         271-531
            1709-1887           AF169017.1         1697-1875
            1888-1890           AA719282.1         7-9                 c
FEATURES             Location/Qualifiers
     source          1..1890
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..1890
                     /gene="FTCD"
                     /gene_synonym="LCHC1"
                     /note="formimidoyltransferase cyclodeaminase"
                     /db_xref="GeneID:10841"
                     /db_xref="HGNC:HGNC:3974"
                     /db_xref="MIM:606806"
     exon            1..110
                     /gene="FTCD"
                     /gene_synonym="LCHC1"
                     /inference="alignment:Splign:2.1.0"
     CDS             57..1682
                     /gene="FTCD"
                     /gene_synonym="LCHC1"
                     /EC_number="2.1.2.5"
                     /EC_number="4.3.1.4"
                     /note="isoform A is encoded by transcript variant A;
                     formiminotransferase-cyclodeaminase"
                     /codon_start=1
                     /product="formimidoyltransferase-cyclodeaminase isoform A"
                     /protein_id="NP_996848.1"
                     /db_xref="CCDS:CCDS13731.1"
                     /db_xref="GeneID:10841"
                     /db_xref="HGNC:HGNC:3974"
                     /db_xref="MIM:606806"
                     /translation="MSQLVECVPNFSEGKNQEVIDAISGAITQTPGCVLLDVDAGPST
                     NRTVYTFVGPPECVVEGALNAARVASRLIDMSRHQGEHPRMGALDVCPFIPVRGVSVD
                     ECVLCAQAFGQRLAEELDVPVYLYGEAARMDSRRTLPAIRAGEYEALPKKLQQADWAP
                     DFGPSSFVPSWGATATGARKFLIAFNINLLGTKEQAHRIALNLREQGRGKDQPGRLKK
                     VQGIGWYLDEKNLAQVSTNLLDFEVTALHTVYEETCREAQELSLPVVGSQLVGLVPLK
                     ALLDAAAFYCEKENLFILEEEQRIRLVVSRLGLDSLCPFSPKERIIEYLVPERGPERG
                     LGSKSLRAFVGEVGARSAAPGGGSVAAAAAAMGAALGSMVGLMTYGRRQFQSLDTTMR
                     RLIPPFREASAKLTTLVDADAEAFTAYLEAMRLPKNTPEEKDRRTAALQEGLRRAVSV
                     PLTLAETVASLWPALQELARCGNLACRSDLQVAAKALEMGVFGAYFNVLINLRDITDE
                     AFKDQIHHRVSSLLQEAKTQAALVLDCLETRQE"
     exon            111..294
                     /gene="FTCD"
                     /gene_synonym="LCHC1"
                     /inference="alignment:Splign:2.1.0"
     exon            295..423
                     /gene="FTCD"
                     /gene_synonym="LCHC1"
                     /inference="alignment:Splign:2.1.0"
     exon            424..512
                     /gene="FTCD"
                     /gene_synonym="LCHC1"
                     /inference="alignment:Splign:2.1.0"
     exon            513..692
                     /gene="FTCD"
                     /gene_synonym="LCHC1"
                     /inference="alignment:Splign:2.1.0"
     exon            693..830
                     /gene="FTCD"
                     /gene_synonym="LCHC1"
                     /inference="alignment:Splign:2.1.0"
     exon            831..962
                     /gene="FTCD"
                     /gene_synonym="LCHC1"
                     /inference="alignment:Splign:2.1.0"
     exon            963..1024
                     /gene="FTCD"
                     /gene_synonym="LCHC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1025..1154
                     /gene="FTCD"
                     /gene_synonym="LCHC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1155..1316
                     /gene="FTCD"
                     /gene_synonym="LCHC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1317..1360
                     /gene="FTCD"
                     /gene_synonym="LCHC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1361..1499
                     /gene="FTCD"
                     /gene_synonym="LCHC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1500..1595
                     /gene="FTCD"
                     /gene_synonym="LCHC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1596..1890
                     /gene="FTCD"
                     /gene_synonym="LCHC1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1871..1876
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FTCD"
                     /gene_synonym="LCHC1"
                     /note="hexamer: AGTAAA"
     polyA_site      1890
                     /gene="FTCD"
                     /gene_synonym="LCHC1"
                     /note="major polyA site"
ORIGIN      
        1 actggccctg tccttccatc tgcccagaga ggagcatctg gatcaaggtg ctggccatgt
       61 cccagctggt ggaatgcgtc cccaactttt cggaggggaa gaaccaggag gtgatcgacg
      121 ccatctctgg agccatcaca cagaccccgg gctgcgtgct gctggatgtg gacgcaggcc
      181 cttccaccaa ccgcaccgtg tacaccttcg tggggccgcc ggagtgcgtg gtggaggggg
      241 ccctcaacgc tgcccgggta gcttcccgac ttatcgacat gagcaggcac caaggagagc
      301 acccccgcat gggggcccta gacgtctgcc ccttcatccc cgtgaggggc gtcagcgtgg
      361 atgagtgtgt gctctgcgcc caggcctttg gccagaggct ggcagaggag ctggacgtgc
      421 cagtttacct gtacggcgag gcagccagga tggacagtcg ccggaccctg ccggccatcc
      481 gggccgggga gtacgaggcc ctccctaaga agctccagca ggccgactgg gcgcccgact
      541 ttggtcccag ctcctttgtc cccagttggg gggccacggc cacgggggcg aggaagttcc
      601 tcattgcttt taacatcaac ctgctcggca caaaggagca agcccaccgc atcgcgctca
      661 acctgcggga gcagggccgc gggaaggacc agccaggacg tctgaagaaa gttcagggca
      721 ttggctggta cctggatgag aagaacctgg ctcaggtgtc caccaatctt ctggactttg
      781 aggtcacggc actgcacacg gtctacgagg agacctgccg agaagcacag gagctgagcc
      841 tcccagtggt gggctcacag ctggtgggcc tggtgcccct gaaggctctg ctggatgcgg
      901 ccgccttcta ctgcgagaag gagaacctct tcatcctgga ggaggagcag cggatcaggc
      961 tggtggtgag ccggctgggc ctggactccc tgtgcccctt cagccctaag gagcggatca
     1021 tcgagtacct ggtccctgag cgcgggcctg agcgaggcct gggcagcaag tccctgcgcg
     1081 ccttcgtggg ggaggtgggt gcccgctctg cggcccccgg gggcggctcg gtggcggcgg
     1141 ccgctgcggc catgggtgcg gcgctgggct ccatggtggg cctcatgacc tacgggcggc
     1201 gccaattcca gtccctggac acgacgatgc ggcgcctgat cccgcccttc cgcgaggctt
     1261 cggccaagct aaccacgctg gtggatgccg acgccgaggc cttcaccgcc tacctggaag
     1321 caatgaggct ccccaagaac acacctgagg aaaaggacag gcgcacggcg gccctacagg
     1381 agggtctgag gcgggcagtc tctgtgccgc tgacgctggc ggagacggtg gcctcgctgt
     1441 ggccggccct gcaggaactg gcccggtgtg ggaacctggc ctgccggtca gacctccagg
     1501 tggcggccaa agccctggag atgggcgtgt ttggcgcata tttcaacgtg ctcatcaacc
     1561 tgagggacat cacagacgag gcatttaagg accagatcca ccatcgtgtt tccagcctcc
     1621 tgcaggaagc caagacccag gctgcactgg tgctggactg cttggagacc cggcaggagt
     1681 gacggtgcgg gaggcctctc cgggctctgt ggcccctccc tcgcccatcc ccagagggca
     1741 gagctgtgac ctcggtgggg acacagcttg ttcgtgtggg gcccggaggg taggtgggca
     1801 ggcagcgggg catcgcctgg gaatggaggc gctggcaggg acagaaggcc cctagtccca
     1861 tgtgacctcc agtaaagttt tggcaccaaa
//
