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 16-JAN-2019, entry version 44. 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; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; 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., RA Mori S., Ikegawa S.; RT "Common variants in a novel gene, FONG on chromosome 2q33.1 confer RT risk of 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., RA Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., RA Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., RA Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J., RA Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., RA Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., RA Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., RA Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., RA Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., RA 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., RA Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., RA Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., RA Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., RA Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., RA Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., RA Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., RA Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., RA Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., RA 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., RA Waterston R.H., Wilson R.K.; RT "Generation and annotation of the DNA sequences of human chromosomes 2 RT and 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., RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R., RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., RA Venter J.C.; RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases. CC -!- TISSUE SPECIFICITY: Widely expressed with highest levels in liver CC and skeletal muscle, and moderate levels in kidney, bone and CC pancreas. {ECO:0000269|PubMed:21573128}. CC -!- SIMILARITY: Belongs to the formiminotransferase family. CC {ECO:0000305}. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC ----------------------------------------------------------------------- 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 UniGene; Hs.734578; -. DR ProteinModelPortal; E5RQL4; -. DR BioMuta; FTCDNL1; -. DR PaxDb; E5RQL4; -. DR PRIDE; E5RQL4; -. DR ProteomicsDB; 16854; -. DR Ensembl; ENST00000622774; ENSP00000482786; ENSG00000226124. DR UCSC; uc021vup.2; human. DR DisGeNET; 348751; -. DR EuPathDB; HostDB:ENSG00000226124.6; -. DR GeneCards; FTCDNL1; -. DR HGNC; HGNC:48661; FTCDNL1. DR HPA; HPA065748; -. DR MIM; 614308; gene. DR neXtProt; NX_E5RQL4; -. DR OpenTargets; ENSG00000226124; -. DR eggNOG; ENOG410KGIB; Eukaryota. DR eggNOG; ENOG4110S8R; LUCA. DR GeneTree; ENSGT00390000005581; -. DR InParanoid; E5RQL4; -. DR ChiTaRS; FTCDNL1; human. DR PRO; PR:E5RQL4; -. DR Proteomes; UP000005640; Chromosome 2. DR Bgee; ENSG00000226124; Expressed in 116 organ(s), highest expression level in C1 segment of cervical spinal cord. 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; -; 1. DR InterPro; IPR012886; Formiminotransferase_N. DR InterPro; IPR037064; Formiminotransferase_N_sf. DR InterPro; IPR022384; FormiminoTrfase_cat_dom_sf. DR Pfam; PF07837; FTCD_N; 2. DR SMART; SM01222; FTCD_N; 1. DR SUPFAM; SSF55116; SSF55116; 1. PE 2: Evidence at transcript level; KW Complete proteome; Reference proteome; Signal. FT SIGNAL 1 20 {ECO:0000255}. FT CHAIN 21 147 Formiminotransferase N-terminal FT subdomain-containing protein. FT /FTId=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 //