Gene: TYMS

Basic information

Tag Content
Uniprot ID P04818; Q8WYK3; Q8WYK4;
Entrez ID 7298
Genbank protein ID BAB83677.1; AAH83512.1; BAB83676.1; AAH02567.1; CAA26178.1; BAA00472.1; EAX01720.1; BAA00404.1; EAX01716.1; AAH13919.1; BAB93473.1;
Genbank nucleotide ID NM_001071.2
Ensembl protein ID ENSP00000314727; ENSP00000315644; ENSP00000314902;
Ensembl nucleotide ID ENSG00000176890
Gene name Thymidylate synthase
Gene symbol TYMS
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type CPO,CL/P
Developmental stage
Data sources Manually collected
Reference 23404871
Functional description Contributes to the de novo mitochondrial thymidylate biosynthesis pathway.
Sequence
MPVAGSELPR RPLPPAAQER DAEPRPPHGE LQYLGQIQHI LRCGVRKDDR TGTGTLSVFG 60
MQARYSLRDE FPLLTTKRVF WKGVLEELLW FIKGSTNAKE LSSKGVKIWD ANGSRDFLDS 120
LGFSTREEGD LGPVYGFQWR HFGAEYRDME SDYSGQGVDQ LQRVIDTIKT NPDDRRIIMC 180
AWNPRDLPLM ALPPCHALCQ FYVVNSELSC QLYQRSGDMG LGVPFNIASY ALLTYMIAHI 240
TGLKPGDFIH TLGDAHIYLN HIEPLKIQLQ REPRPFPKLR ILRKVEKIDD FKAEDFQIEG 300
YNPHPTIKME MAV 313

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologTYMSF1MY63Bos taurusPredictionMore>>
1:1 orthologTYMSA0A452DJS6Capra hircusPredictionMore>>
1:1 orthologTYMS100060971F6TRC0Equus caballusPredictionMore>>
1:1 orthologTYMS7298P04818CPO,CL/PHomo sapiensPublicationMore>>
1:1 orthologTyms22171P07607E14.5Mus musculusPredictionMore>>
1:1 orthologTYMS740018G2HEY4Pan troglodytesPredictionMore>>
1:1 orthologTYMSA0A287AFN2Sus scrofaPredictionMore>>
1:1 orthologTYMS100347408G1SVL8Oryctolagus cuniculusPredictionMore>>
1:1 orthologTyms29261P45352Rattus norvegicusPredictionMore>>
1:1 orthologtyms81540Q6P045Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
TYMSrs45445694; 28bp VNTR Genotyping23404871

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000166 nucleotide bindingIEA
GO:0000900 translation repressor activity, mRNA regulatory element bindingIDA
GO:0004799 thymidylate synthase activityIDA
GO:0004799 thymidylate synthase activityTAS
GO:0004799 thymidylate synthase activityIBA
GO:0005542 folic acid bindingIC
GO:0042802 identical protein bindingIEA
GO:0048037 cofactor bindingIEA
GO:1990825 sequence-specific mRNA bindingIDA

GO:Biological Process

GO ID GO Term Evidence
GO:0000083 regulation of transcription involved in G1/S transition of mitotic cell cycleTAS
GO:0006231 dTMP biosynthetic processIDA
GO:0006231 dTMP biosynthetic processIBA
GO:0006235 dTTP biosynthetic processIEA
GO:0007568 agingIEA
GO:0007623 circadian rhythmIEA
GO:0015949 nucleobase-containing small molecule interconversionTAS
GO:0017148 negative regulation of translationIDA
GO:0019088 immortalization of host cell by virusIEA
GO:0019860 uracil metabolic processIEA
GO:0032259 methylationIEA
GO:0032570 response to progesteroneIEA
GO:0033189 response to vitamin AIEA
GO:0034097 response to cytokineIEA
GO:0035999 tetrahydrofolate interconversionIDA
GO:0045471 response to ethanolIEA
GO:0046078 dUMP metabolic processIEA
GO:0046683 response to organophosphorusIEP
GO:0048589 developmental growthIEA
GO:0051216 cartilage developmentIEA
GO:0051384 response to glucocorticoidIEA
GO:0051593 response to folic acidIEA
GO:0060574 intestinal epithelial cell maturationIEA
GO:0071897 DNA biosynthetic processIC
GO:0097421 liver regenerationIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusIDA
GO:0005730 nucleolusIEA
GO:0005737 cytoplasmIDA
GO:0005739 mitochondrionIBA
GO:0005739 mitochondrionIDA
GO:0005743 mitochondrial inner membraneIDA
GO:0005759 mitochondrial matrixIDA
GO:0005829 cytosolIBA
GO:0005829 cytosolTAS

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-1430728 MetabolismTAS
R-HSA-15869 Metabolism of nucleotidesTAS
R-HSA-1640170 Cell CycleTAS
R-HSA-453279 Mitotic G1 phase and G1/S transitionTAS
R-HSA-499943 Interconversion of nucleotide di- and triphosphatesTAS
R-HSA-69205 G1/S-Specific TranscriptionTAS
R-HSA-69206 G1/S TransitionTAS
R-HSA-69278 Cell Cycle, MitoticTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0025 Alternative splicing
KW-0963 Cytoplasm
KW-0903 Direct protein sequencing
KW-1017 Isopeptide bond
KW-0472 Membrane
KW-0489 Methyltransferase
KW-0496 Mitochondrion
KW-0999 Mitochondrion inner membrane
KW-0545 Nucleotide biosynthesis
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0808 Transferase
KW-0832 Ubl conjugation

Interpro

InterPro ID InterPro Term
IPR023451 Thymidate_synth/dCMP_Mease
IPR036926 Thymidate_synth/dCMP_Mease_sf
IPR000398 Thymidylate_synthase
IPR020940 Thymidylate_synthase_AS

PROSITE

PROSITE ID PROSITE Term
PS00091 THYMIDYLATE_SYNTHASE

Pfam

Pfam ID Pfam Term
PF00303 Thymidylat_synt

Protein-protein interaction

Protein-miRNA interaction