ID B7ZM99_HUMAN Unreviewed; 979 AA. AC B7ZM99; DT 03-MAR-2009, integrated into UniProtKB/TrEMBL. DT 03-MAR-2009, sequence version 1. DT 18-SEP-2019, entry version 96. DE SubName: Full=MTHFD1L protein {ECO:0000313|EMBL:AAI44369.1}; DE SubName: Full=Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like {ECO:0000313|EMBL:AAI36686.1}; DE SubName: Full=Monofunctional C1-tetrahydrofolate synthase, mitochondrial {ECO:0000313|Ensembl:ENSP00000478253}; GN Name=MTHFD1L {ECO:0000313|EMBL:AAI44369.1, GN ECO:0000313|Ensembl:ENSP00000478253}; 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 {ECO:0000313|EMBL:AAI44369.1}; RN [1] {ECO:0000313|Ensembl:ENSP00000478253, ECO:0000313|Proteomes:UP000005640} RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=14574404; DOI=10.1038/nature02055; RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., RA Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., RA Almeida J.P., Ambrose K.D., Andrews T.D., Ashwell R.I.S., RA Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., RA Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., RA Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., RA Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., RA Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., RA Frankland J., French L., Garner P., Garnett J., Ghori M.J., RA Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., RA Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., RA Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., RA Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., RA Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., RA Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., RA Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., RA Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., RA McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., RA Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., RA Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., RA Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., RA Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., RA Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., RA Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., RA Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., RA Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., RA Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., RA Durbin R., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.; RT "The DNA sequence and analysis of human chromosome 6."; RL Nature 425:805-811(2003). RN [2] {ECO:0000313|EMBL:AAI44369.1} RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Brain {ECO:0000313|EMBL:AAI44369.1}, and Testicle RC {ECO:0000313|EMBL:AAI36686.1}; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RA Gerhard D.S., Wagner L., Feingold E.A., Shenmen C.M., Grouse L.H., RA Schuler G., Klein S.L., Old S., Rasooly R., Good P., Guyer M., RA Peck A.M., Derge J.G., Lipman D., Collins F.S., Jang W., Sherry S., RA Feolo M., Misquitta L., Lee E., Rotmistrovsky K., Greenhut S.F., RA Schaefer C.F., Buetow K., Bonner T.I., Haussler D., Kent J., RA Kiekhaus M., Furey T., Brent M., Prange C., Schreiber K., Shapiro N., RA Bhat N.K., Hopkins R.F., Hsie F., Driscoll T., Soares M.B., RA Casavant T.L., Scheetz T.E., Brown-stein M.J., Usdin T.B., RA Toshiyuki S., Carninci P., Piao Y., Dudekula D.B., Ko M.S., RA Kawakami K., Suzuki Y., Sugano S., Gruber C.E., Smith M.R., RA Simmons B., Moore T., Waterman R., Johnson S.L., Ruan Y., Wei C.L., RA Mathavan S., Gunaratne P.H., Wu J., Garcia A.M., Hulyk S.W., Fuh E., RA Yuan Y., Sneed A., Kowis C., Hodgson A., Muzny D.M., McPherson J., RA Gibbs R.A., Fahey J., Helton E., Ketteman M., Madan A., Rodrigues S., RA Sanchez A., Whiting M., Madari A., Young A.C., Wetherby K.D., RA Granite S.J., Kwong P.N., Brinkley C.P., Pearson R.L., Bouffard G.G., RA Blakesly R.W., Green E.D., Dickson M.C., Rodriguez A.C., Grimwood J., RA Schmutz J., Myers R.M., Butterfield Y.S., Griffith M., Griffith O.L., RA Krzywinski M.I., Liao N., Morin R., Morrin R., Palmquist D., RA Petrescu A.S., Skalska U., Smailus D.E., Stott J.M., Schnerch A., RA Schein J.E., Jones S.J., Holt R.A., Baross A., Marra M.A., Clifton S., RA Makowski K.A., Bosak S., Malek J.; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [3] {ECO:0000213|PubMed:19608861} RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RX PubMed=19608861; DOI=10.1126/science.1175371; RA Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., RA Walther T.C., Olsen J.V., Mann M.; RT "Lysine acetylation targets protein complexes and co-regulates major RT cellular functions."; RL Science 325:834-840(2009). RN [4] {ECO:0000213|PubMed:21269460} RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RX PubMed=21269460; DOI=10.1186/1752-0509-5-17; RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., RA Burckstummer T., Bennett K.L., Superti-Furga G., Colinge J.; RT "Initial characterization of the human central proteome."; RL BMC Syst. Biol. 5:17-17(2011). RN [5] {ECO:0000213|PubMed:23186163} RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RX PubMed=23186163; RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., RA Mohammed S.; RT "Toward a comprehensive characterization of a human cancer cell RT phosphoproteome."; RL J. Proteome Res. 12:260-271(2013). RN [6] {ECO:0000313|Ensembl:ENSP00000478253} RP IDENTIFICATION. RG Ensembl; RL Submitted (SEP-2014) to UniProtKB. RN [7] {ECO:0000213|PubMed:25944712} RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RX PubMed=25944712; RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., RA Ayoub D., Lane L., Bairoch A., Van Dorsselaer A., Carapito C.; RT "N-terminome analysis of the human mitochondrial proteome."; RL Proteomics 15:2519-2524(2015). 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; AL035086; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AL049694; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AL133260; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; KF458323; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; BC136685; AAI36686.1; -; mRNA. DR EMBL; BC144368; AAI44369.1; -; mRNA. DR RefSeq; NP_001229696.1; NM_001242767.1. DR RefSeq; XP_016866191.1; XM_017010702.1. DR RefSeq; XP_016866192.1; XM_017010703.1. DR SMR; B7ZM99; -. DR PRIDE; B7ZM99; -. DR Ensembl; ENST00000611279; ENSP00000478253; ENSG00000120254. DR GeneID; 25902; -. DR UCSC; uc021zgs.2; human. DR CTD; 25902; -. DR HGNC; HGNC:21055; MTHFD1L. DR OpenTargets; ENSG00000120254; -. DR eggNOG; KOG4230; Eukaryota. DR eggNOG; COG0190; LUCA. DR eggNOG; COG2759; LUCA. DR GeneTree; ENSGT00940000157477; -. DR HOGENOM; HOG000040280; -. DR OMA; YSRQAQF; -. DR OrthoDB; 690393at2759; -. DR ChiTaRS; MTHFD1L; human. DR GenomeRNAi; 25902; -. DR Proteomes; UP000005640; Chromosome 6. DR Bgee; ENSG00000120254; Expressed in 182 organ(s), highest expression level in left coronary artery. DR GO; GO:0005739; C:mitochondrion; IDA:HPA. DR GO; GO:0005524; F:ATP binding; IEA:InterPro. DR GO; GO:0004329; F:formate-tetrahydrofolate ligase activity; IEA:InterPro. DR GO; GO:0004488; F:methylenetetrahydrofolate dehydrogenase (NADP+) activity; IEA:InterPro. DR GO; GO:0048702; P:embryonic neurocranium morphogenesis; IEA:Ensembl. DR GO; GO:0048703; P:embryonic viscerocranium morphogenesis; IEA:Ensembl. DR GO; GO:0001843; P:neural tube closure; IEA:Ensembl. DR HAMAP; MF_01543; FTHFS; 1. DR InterPro; IPR000559; Formate_THF_ligase. DR InterPro; IPR020628; Formate_THF_ligase_CS. DR InterPro; IPR036291; NAD(P)-bd_dom_sf. DR InterPro; IPR027417; P-loop_NTPase. DR InterPro; IPR000672; THF_DH/CycHdrlase. DR InterPro; IPR020630; THF_DH/CycHdrlase_cat_dom. DR InterPro; IPR020631; THF_DH/CycHdrlase_NAD-bd_dom. DR Pfam; PF01268; FTHFS; 1. DR Pfam; PF00763; THF_DHG_CYH; 1. DR Pfam; PF02882; THF_DHG_CYH_C; 1. DR PRINTS; PR00085; THFDHDRGNASE. DR SUPFAM; SSF51735; SSF51735; 1. DR SUPFAM; SSF52540; SSF52540; 1. DR PROSITE; PS00721; FTHFS_1; 1. DR PROSITE; PS00722; FTHFS_2; 1. PE 1: Evidence at protein level; KW Complete proteome {ECO:0000313|Proteomes:UP000005640}; KW Proteomics identification {ECO:0000213|EPD:B7ZM99, KW ECO:0000213|MaxQB:B7ZM99, ECO:0000213|PeptideAtlas:B7ZM99, KW ECO:0000213|ProteomicsDB:B7ZM99}; KW Reference proteome {ECO:0000313|Proteomes:UP000005640}. FT DOMAIN 74 180 THF_DHG_CYH. {ECO:0000259|Pfam:PF00763}. FT DOMAIN 184 302 THF_DHG_CYH_C. {ECO:0000259|Pfam: FT PF02882}. FT REGION 1 71 Disordered. {ECO:0000256|SAM:MobiDB- FT lite}. SQ SEQUENCE 979 AA; 105889 MW; D5BB0E871BC20444 CRC64; MGTRLPLVLR QLRRPPQPPG PPRRLRVPCR ASSGGGGGGG GGREGLLGQR RPQDGQARSS CSPGGRTPAA RDSIVREVIQ NSKEVLSLLQ EKNPAFKPVL AIIQAGDDNL MQEINQNLAE EAGLNITHIC LPPDSSEAEI IDEILKINED TRVHGLALQI SENLFSNKVL NALKPEKDVD GVTDINLGKL VRGDAHECFV SPVAKAVIEL LEKSVGVNLD GKKILVVGAH GSLEAALQCL FQRKGSMTMS IQWKTRQLQS KLHEADIVVL GSPKPEEIPL TWIQPGTTVL NCSHDFLSGK VGCGSPRIHF GGLIEEDDVI LLAAALRIQN MVSSGRRWLR EQQHRRWRLH CLKLQPLSPV PSDIEISRGQ TPKAVDVLAK EIGLLADEIE IYGKSKAKVR LSVLERLKDQ ADGKYVLVAG ITPTPLGEGK STVTIGLVQA LTAHLNVNSF ACLRQPSQGP TFGVKGGAAG GGYAQVIPME EFNLHLTGDI HAITAANNLL AAAIDTRILH ENTQTDKALY NRLVPLVNGV REFSEIQLAR LKKLGINKTD PSTLTEEEVS KFARLDIDPS TITWQRVLDT NDRFLRKITI GQGNTEKGHY RQAQFDIAVA SEIMAVLALT DSLADMKARL GRMVVASDKS GQPVTADDLG VTGALTVLMK DAIKPNLMQT LEGTPVFVHA GPFANIAHGN SSVLADKIAL KLVGEEGFVV TEAGFGADIG MEKFFNIKCR ASGLVPNVVV LVATVRALKM HGGGPSVTAG VPLKKEYTEE NIQLVADGCC NLQKQIQITQ LFGVPVVVAL NVFKTDTRAE IDLVCELAKR AGAFDAVPCY HWSVGGKGSV DLARAVREAA SKRSRFQFLY DVQVPIVDKI RTIAQAVYGA KDIELSPEAQ AKIDRYTQQG FGNLPICMAK THLSLSHQPD KKGVPRDFIL PISDVRASIG AGFIYPLVGT MSTMPGLPTR PCFYDIDLDT ETEQVKGLF //