LOCUS       NP_996848                541 aa            linear   PRI 28-APR-2025
DEFINITION  formimidoyltransferase-cyclodeaminase isoform A [Homo sapiens].
ACCESSION   NP_996848
VERSION     NP_996848.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 541)
  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  (residues 1 to 541)
  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  (residues 1 to 541)
  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  (residues 1 to 541)
  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  (residues 1 to 541)
  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  (residues 1 to 541)
  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  (residues 1 to 541)
  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  (residues 1 to 541)
  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  (residues 1 to 541)
  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 (residues 1 to 541)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..541
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     Protein         1..541
                     /product="formimidoyltransferase-cyclodeaminase isoform A"
                     /EC_number="2.1.2.5"
                     /EC_number="4.3.1.4"
                     /note="formiminotransferase-cyclodeaminase"
                     /calculated_mol_wt=58796
     Region          1..328
                     /region_name="FtcD"
                     /note="glutamate formiminotransferase; TIGR02024"
                     /db_xref="CDD:131079"
     Region          1..181
                     /region_name="Formiminotransferase N-subdomain.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (O95954.2)"
     Region          182..326
                     /region_name="Formiminotransferase C-subdomain.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (O95954.2)"
     Site            316
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O95954.2)"
     Region          327..334
                     /region_name="Linker. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (O95954.2)"
     Region          335..541
                     /region_name="Cyclodeaminase/cyclohydrolase.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (O95954.2)"
     Region          370..520
                     /region_name="FTCD_C"
                     /note="Formiminotransferase-cyclodeaminase; pfam04961"
                     /db_xref="CDD:461500"
     Site            386
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O95954.2)"
     Site            520
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O88618; propagated from
                     UniProtKB/Swiss-Prot (O95954.2)"
     CDS             1..541
                     /gene="FTCD"
                     /gene_synonym="LCHC1"
                     /coded_by="NM_206965.2:57..1682"
                     /note="isoform A is encoded by transcript variant A"
                     /db_xref="CCDS:CCDS13731.1"
                     /db_xref="GeneID:10841"
                     /db_xref="HGNC:HGNC:3974"
                     /db_xref="MIM:606806"
ORIGIN      
        1 msqlvecvpn fsegknqevi daisgaitqt pgcvlldvda gpstnrtvyt fvgppecvve
       61 galnaarvas rlidmsrhqg ehprmgaldv cpfipvrgvs vdecvlcaqa fgqrlaeeld
      121 vpvylygeaa rmdsrrtlpa irageyealp kklqqadwap dfgpssfvps wgatatgark
      181 fliafninll gtkeqahria lnlreqgrgk dqpgrlkkvq gigwyldekn laqvstnlld
      241 fevtalhtvy eetcreaqel slpvvgsqlv glvplkalld aaafyceken lfileeeqri
      301 rlvvsrlgld slcpfspker iieylvperg perglgsksl rafvgevgar saapgggsva
      361 aaaaamgaal gsmvglmtyg rrqfqsldtt mrrlippfre asaklttlvd adaeaftayl
      421 eamrlpkntp eekdrrtaal qeglrravsv pltlaetvas lwpalqelar cgnlacrsdl
      481 qvaakalemg vfgayfnvli nlrditdeaf kdqihhrvss llqeaktqaa lvldcletrq
      541 e
//
