FONG_HUMAN
ID FONG_HUMAN Reviewed; 147 AA.
AC E5RQL4;
DT 14-DEC-2011, integrated into UniProtKB/Swiss-Prot.
DT 08-MAR-2011, sequence version 1.
DT 03-AUG-2022, entry version 58.
DE RecName: Full=Formiminotransferase N-terminal subdomain-containing protein;
DE AltName: Full=Formiminotransferase-cyclodeaminase N-terminal-like protein;
DE Flags: Precursor;
GN Name=FTCDNL1; Synonyms=FONG;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
RX PubMed=21573128; DOI=10.1371/journal.pone.0019641;
RA Kou I., Takahashi A., Urano T., Fukui N., Ito H., Ozaki K., Tanaka T.,
RA Hosoi T., Shiraki M., Inoue S., Nakamura Y., Kamatani N., Kubo M., Mori S.,
RA Ikegawa S.;
RT "Common variants in a novel gene, FONG on chromosome 2q33.1 confer risk of
RT osteoporosis in Japanese.";
RL PLoS ONE 6:E19641-E19641(2011).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
CC -!- TISSUE SPECIFICITY: Widely expressed with highest levels in liver and
CC skeletal muscle, and moderate levels in kidney, bone and pancreas.
CC {ECO:0000269|PubMed:21573128}.
CC -!- SIMILARITY: Belongs to the formiminotransferase family. {ECO:0000305}.
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DR EMBL; AB568489; BAJ46228.1; -; mRNA.
DR EMBL; AC073043; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471063; EAW70188.1; -; Genomic_DNA.
DR CCDS; CCDS86907.1; -.
DR AlphaFoldDB; E5RQL4; -.
DR STRING; 9606.ENSP00000482786; -.
DR BioMuta; FTCDNL1; -.
DR PaxDb; E5RQL4; -.
DR PRIDE; E5RQL4; -.
DR Ensembl; ENST00000622774.2; ENSP00000482786.1; ENSG00000226124.9.
DR UCSC; uc021vup.2; human.
DR GeneCards; FTCDNL1; -.
DR HGNC; HGNC:48661; FTCDNL1.
DR HPA; ENSG00000226124; Low tissue specificity.
DR MIM; 614308; gene.
DR neXtProt; NX_E5RQL4; -.
DR OpenTargets; ENSG00000226124; -.
DR VEuPathDB; HostDB:ENSG00000226124; -.
DR eggNOG; ENOG502QS19; Eukaryota.
DR GeneTree; ENSGT00390000005581; -.
DR HOGENOM; CLU_1854538_0_0_1; -.
DR InParanoid; E5RQL4; -.
DR OMA; EYPEVSM; -.
DR ChiTaRS; FTCDNL1; human.
DR Pharos; E5RQL4; Tdark.
DR PRO; PR:E5RQL4; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; E5RQL4; protein.
DR Bgee; ENSG00000226124; Expressed in gastrocnemius and 104 other tissues.
DR ExpressionAtlas; E5RQL4; baseline and differential.
DR GO; GO:0005542; F:folic acid binding; IEA:InterPro.
DR GO; GO:0016740; F:transferase activity; IEA:InterPro.
DR Gene3D; 3.30.990.10; -; 2.
DR InterPro; IPR012886; Formiminotransferase_N.
DR InterPro; IPR037064; Formiminotransferase_N_sf.
DR InterPro; IPR022384; FormiminoTrfase_cat_dom_sf.
DR Pfam; PF07837; FTCD_N; 1.
DR SMART; SM01222; FTCD_N; 1.
DR SUPFAM; SSF55116; SSF55116; 1.
PE 2: Evidence at transcript level;
KW Reference proteome; Signal.
FT SIGNAL 1..20
FT /evidence="ECO:0000255"
FT CHAIN 21..147
FT /note="Formiminotransferase N-terminal subdomain-containing
FT protein"
FT /id="PRO_0000414629"
SQ SEQUENCE 147 AA; 16268 MW; 1835B378B27CCCE4 CRC64;
MSSSRVGLRL AACLLNVSEA GRKYIVENIA KAALLDKNGK KHPQVSVLNI FSDQDYKRSV
ITIATSVDKL GLAEDLVLHV PGCSVFLFGE ADLPEKRSLV QRRKQLGWFT RRDFSALQPD
LGAAPSQRCG LTGSEHGFCF ALFFFFF
