MTHSD_HUMAN
ID MTHSD_HUMAN Reviewed; 383 AA.
AC Q2M296; A8MQ77; B7ZLC0; B7ZLC2; D3DUM9; E9PAM1; Q9H878; Q9H954;
DT 24-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 14-OCT-2008, sequence version 2.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=Methenyltetrahydrofolate synthase domain-containing protein;
GN Name=MTHFSD;
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 [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP ARG-315.
RC TISSUE=Thyroid;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ARG-315.
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3 AND 4), AND VARIANTS
RP CYS-243; THR-244 AND ARG-315.
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP STRUCTURE BY NMR OF 288-383.
RG RIKEN structural genomics initiative (RSGI);
RT "Solution structure of RNA binding domain in methenyltetrahydrofolate
RT synthetase domain containing.";
RL Submitted (JUN-2007) to the PDB data bank.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q2M296-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q2M296-2; Sequence=VSP_027115;
CC Name=3;
CC IsoId=Q2M296-3; Sequence=VSP_044492;
CC Name=4;
CC IsoId=Q2M296-4; Sequence=VSP_027115, VSP_044492;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB14383.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK023060; BAB14383.1; ALT_FRAME; mRNA.
DR EMBL; AK023955; BAB14739.1; -; mRNA.
DR EMBL; AC009108; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471114; EAW95418.1; -; Genomic_DNA.
DR EMBL; CH471114; EAW95419.1; -; Genomic_DNA.
DR EMBL; BC112057; AAI12058.1; -; mRNA.
DR EMBL; BC112059; AAI12060.1; -; mRNA.
DR EMBL; BC143702; AAI43703.1; -; mRNA.
DR EMBL; BC143707; AAI43708.1; -; mRNA.
DR CCDS; CCDS42211.1; -. [Q2M296-2]
DR CCDS; CCDS54047.1; -. [Q2M296-1]
DR CCDS; CCDS54048.1; -. [Q2M296-3]
DR CCDS; CCDS58490.1; -. [Q2M296-4]
DR RefSeq; NP_001152849.1; NM_001159377.1. [Q2M296-1]
DR RefSeq; NP_001152850.1; NM_001159378.1. [Q2M296-3]
DR RefSeq; NP_073601.2; NM_022764.2. [Q2M296-2]
DR PDB; 2E5J; NMR; -; A=294-383.
DR PDBsum; 2E5J; -.
DR AlphaFoldDB; Q2M296; -.
DR SMR; Q2M296; -.
DR BioGRID; 122289; 10.
DR IntAct; Q2M296; 4.
DR STRING; 9606.ENSP00000354152; -.
DR iPTMnet; Q2M296; -.
DR PhosphoSitePlus; Q2M296; -.
DR BioMuta; MTHFSD; -.
DR DMDM; 209572652; -.
DR EPD; Q2M296; -.
DR jPOST; Q2M296; -.
DR MassIVE; Q2M296; -.
DR MaxQB; Q2M296; -.
DR PaxDb; Q2M296; -.
DR PeptideAtlas; Q2M296; -.
DR PRIDE; Q2M296; -.
DR ProteomicsDB; 19045; -.
DR ProteomicsDB; 61347; -. [Q2M296-1]
DR ProteomicsDB; 61348; -. [Q2M296-2]
DR Antibodypedia; 30664; 121 antibodies from 20 providers.
DR DNASU; 64779; -.
DR Ensembl; ENST00000360900.11; ENSP00000354152.6; ENSG00000103248.19. [Q2M296-1]
DR Ensembl; ENST00000381214.9; ENSP00000370612.5; ENSG00000103248.19. [Q2M296-3]
DR Ensembl; ENST00000543303.6; ENSP00000444003.2; ENSG00000103248.19. [Q2M296-4]
DR Ensembl; ENST00000634347.1; ENSP00000489295.1; ENSG00000103248.19. [Q2M296-2]
DR GeneID; 64779; -.
DR KEGG; hsa:64779; -.
DR MANE-Select; ENST00000360900.11; ENSP00000354152.6; NM_001159377.2; NP_001152849.1.
DR UCSC; uc002fjn.4; human. [Q2M296-1]
DR CTD; 64779; -.
DR DisGeNET; 64779; -.
DR GeneCards; MTHFSD; -.
DR HGNC; HGNC:25778; MTHFSD.
DR HPA; ENSG00000103248; Low tissue specificity.
DR neXtProt; NX_Q2M296; -.
DR OpenTargets; ENSG00000103248; -.
DR PharmGKB; PA144596408; -.
DR VEuPathDB; HostDB:ENSG00000103248; -.
DR eggNOG; KOG4410; Eukaryota.
DR GeneTree; ENSGT00390000011730; -.
DR HOGENOM; CLU_031500_3_0_1; -.
DR InParanoid; Q2M296; -.
DR OMA; KTVYMAV; -.
DR OrthoDB; 1137978at2759; -.
DR PhylomeDB; Q2M296; -.
DR TreeFam; TF324742; -.
DR PathwayCommons; Q2M296; -.
DR SignaLink; Q2M296; -.
DR BioGRID-ORCS; 64779; 12 hits in 1077 CRISPR screens.
DR EvolutionaryTrace; Q2M296; -.
DR GenomeRNAi; 64779; -.
DR Pharos; Q2M296; Tdark.
DR PRO; PR:Q2M296; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q2M296; protein.
DR Bgee; ENSG00000103248; Expressed in buccal mucosa cell and 131 other tissues.
DR ExpressionAtlas; Q2M296; baseline and differential.
DR Genevisible; Q2M296; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0003723; F:RNA binding; HDA:UniProtKB.
DR CDD; cd12270; RRM_MTHFSD; 1.
DR Gene3D; 3.30.70.330; -; 1.
DR Gene3D; 3.40.50.10420; -; 1.
DR InterPro; IPR002698; FTHF_cligase.
DR InterPro; IPR024185; FTHF_cligase-like_sf.
DR InterPro; IPR034359; MTHFSD_RRM.
DR InterPro; IPR037171; NagB/RpiA_transferase-like.
DR InterPro; IPR012677; Nucleotide-bd_a/b_plait_sf.
DR InterPro; IPR035979; RBD_domain_sf.
DR InterPro; IPR000504; RRM_dom.
DR PANTHER; PTHR13017; PTHR13017; 1.
DR Pfam; PF01812; 5-FTHF_cyc-lig; 1.
DR Pfam; PF00076; RRM_1; 1.
DR SMART; SM00360; RRM; 1.
DR SUPFAM; SSF100950; SSF100950; 1.
DR SUPFAM; SSF54928; SSF54928; 1.
DR PROSITE; PS50102; RRM; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Reference proteome; RNA-binding.
FT CHAIN 1..383
FT /note="Methenyltetrahydrofolate synthase domain-containing
FT protein"
FT /id="PRO_0000295871"
FT DOMAIN 306..379
FT /note="RRM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00176"
FT REGION 249..301
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 6
FT /note="Missing (in isoform 2 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_027115"
FT VAR_SEQ 43..79
FT /note="SYLACQNIKDLDVFARTQEVKVDPDKPLEGVRLLVLQ -> ASHAAEQLPRL
FT QAFKTARTIKVNPDAPQKSARFFVLE (in isoform 3 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_044492"
FT VARIANT 45
FT /note="L -> V (in dbSNP:rs34005514)"
FT /id="VAR_033373"
FT VARIANT 243
FT /note="R -> C (in dbSNP:rs3751800)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_068902"
FT VARIANT 244
FT /note="A -> T (in dbSNP:rs3751801)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_068903"
FT VARIANT 296
FT /note="S -> C (in dbSNP:rs3751802)"
FT /id="VAR_033374"
FT VARIANT 315
FT /note="G -> R (in dbSNP:rs3751803)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3"
FT /id="VAR_033375"
FT CONFLICT 59
FT /note="T -> A (in Ref. 1; BAB14383)"
FT /evidence="ECO:0000305"
FT CONFLICT 144
FT /note="V -> A (in Ref. 1; BAB14383)"
FT /evidence="ECO:0000305"
FT STRAND 300..302
FT /evidence="ECO:0007829|PDB:2E5J"
FT STRAND 307..311
FT /evidence="ECO:0007829|PDB:2E5J"
FT HELIX 319..328
FT /evidence="ECO:0007829|PDB:2E5J"
FT STRAND 334..339
FT /evidence="ECO:0007829|PDB:2E5J"
FT TURN 340..343
FT /evidence="ECO:0007829|PDB:2E5J"
FT STRAND 344..348
FT /evidence="ECO:0007829|PDB:2E5J"
FT HELIX 352..362
FT /evidence="ECO:0007829|PDB:2E5J"
FT STRAND 367..370
FT /evidence="ECO:0007829|PDB:2E5J"
FT STRAND 373..376
FT /evidence="ECO:0007829|PDB:2E5J"
SQ SEQUENCE 383 AA; 42173 MW; A241F4424AB9679F CRC64;
MEPRAVGVSK QDIREQIWGY MESQNLADFP RPVHHRIPNF KGSYLACQNI KDLDVFARTQ
EVKVDPDKPL EGVRLLVLQS KKTLLVPTPR LRTGLFNKIT PPPGATKDIL RKCATSQGVR
NYSVPIGLDS RVLVDLVVVG SVAVSEKGWR IGKGEGYADL EYAMMVSMGA VSKETPVVTI
VHDCQVVDIP EELVEEHDIT VDYILTPTRV IATGCKRPKP MGITWFKISL EMMEKIPILR
SLRAREQQAG KDVTLQGEHQ HLPEPGCQQT VPLSVGRRPP DTPGPETNSM EAAPGSPPGE
GAPLAADVYV GNLPGDARVS DLKRALRELG SVPLRLTWQG PRRRAFLHYP DSAAAQQAVS
CLQGLRLGTD TLRVALARQQ RDK
