Gene: Tyms

Basic information

Tag Content
Uniprot ID P07607
Entrez ID 22171
Genbank protein ID AAA40444.1; AAA40439.1; CAA32651.1;
Genbank nucleotide ID NM_021288.4
Ensembl protein ID ENSMUSP00000026846
Ensembl nucleotide ID ENSMUSG00000025747
Gene name Thymidylate synthase
Gene symbol Tyms
Organism Mus musculus
NCBI taxa ID 10090
Cleft type
Developmental stage E14.5
Data sources Homology search
Reference
Functional description Contributes to the de novo mitochondrial thymidylate biosynthesis pathway.
Sequence
MLVVGSELQS DAQQLSAEAP RHGELQYLRQ VEHILRCGFK KEDRTGTGTL SVFGMQARYS 60
LRDEFPLLTT KRVFWKGVLE ELLWFIKGST NAKELSSKGV RIWDANGSRD FLDSLGFSAR 120
QEGDLGPVYG FQWRHFGAEY KDMDSDYSGQ GVDQLQKVID TIKTNPDDRR IIMCAWNPKD 180
LPLMALPPCH ALCQFYVVNG ELSCQLYQRS GDMGLGVPFN IASYALLTYM IAHITGLQPG 240
DFVHTLGDAH IYLNHIEPLK IQLQREPRPF PKLKILRKVE TIDDFKVEDF QIEGYNPHPT 300
IKMEMAV 307

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 during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

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Protein structural annotations

3D structure in PDB database


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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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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000166 nucleotide bindingISO
GO:0000900 translation repressor activity, mRNA regulatory element bindingISO
GO:0003729 mRNA bindingISO
GO:0004799 thymidylate synthase activityISO
GO:0004799 thymidylate synthase activityIBA
GO:0005542 folic acid bindingISO
GO:0008144 drug bindingISO
GO:0042802 identical protein bindingISO
GO:0048037 cofactor bindingISO
GO:1990825 sequence-specific mRNA bindingISO

GO:Biological Process

GO ID GO Term Evidence
GO:0006231 dTMP biosynthetic processISO
GO:0006231 dTMP biosynthetic processIBA
GO:0006235 dTTP biosynthetic processIEA
GO:0006417 regulation of translationISO
GO:0007568 agingIEA
GO:0007623 circadian rhythmIEA
GO:0017148 negative regulation of translationISO
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 interconversionISO
GO:0045471 response to ethanolIEA
GO:0046078 dUMP metabolic processISO
GO:0046683 response to organophosphorusIEA
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:0097421 liver regenerationIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusISS
GO:0005634 nucleusISO
GO:0005730 nucleolusISO
GO:0005737 cytoplasmISS
GO:0005737 cytoplasmISO
GO:0005739 mitochondrionISS
GO:0005739 mitochondrionISO
GO:0005739 mitochondrionIBA
GO:0005743 mitochondrial inner membraneISS
GO:0005743 mitochondrial inner membraneISO
GO:0005759 mitochondrial matrixISS
GO:0005759 mitochondrial matrixISO
GO:0005829 cytosolIBA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-1430728 MetabolismIEA
R-MMU-15869 Metabolism of nucleotidesIEA
R-MMU-499943 Interconversion of nucleotide di- and triphosphatesIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0963 Cytoplasm
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