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TYMS thymidylate synthetase [ Homo sapiens (human) ]

Gene ID: 7298, updated on 27-Nov-2024

Summary

Official Symbol
TYMSprovided by HGNC
Official Full Name
thymidylate synthetaseprovided by HGNC
Primary source
HGNC:HGNC:12441
See related
Ensembl:ENSG00000176890 MIM:188350; AllianceGenome:HGNC:12441
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TS; TMS; DKCD; HST422
Summary
Thymidylate synthase catalyzes the methylation of deoxyuridylate to deoxythymidylate using, 10-methylenetetrahydrofolate (methylene-THF) as a cofactor. This function maintains the dTMP (thymidine-5-prime monophosphate) pool critical for DNA replication and repair. The enzyme has been of interest as a target for cancer chemotherapeutic agents. It is considered to be the primary site of action for 5-fluorouracil, 5-fluoro-2-prime-deoxyuridine, and some folate analogs. Expression of this gene and that of a naturally occurring antisense transcript, mitochondrial enolase superfamily member 1 (GeneID:55556), vary inversely when cell-growth progresses from late-log to plateau phase. Polymorphisms in this gene may be associated with etiology of neoplasia, including breast cancer, and response to chemotherapy. [provided by RefSeq, Aug 2017]
Expression
Broad expression in bone marrow (RPKM 46.3), testis (RPKM 32.5) and 21 other tissues See more
Orthologs
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Genomic context

See TYMS in Genome Data Viewer
Location:
18p11.32
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (657653..673578)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (811985..827856)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (657653..673578)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr18:596737-596866 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9239 Neighboring gene RN7SK pseudogene 146 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:597469-597968 Neighboring gene Sharpr-MPRA regulatory region 12053 Neighboring gene clusterin like 1 Neighboring gene uncharacterized LOC105371952 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:641155-642354 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:657377-657878 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:657879-658378 Neighboring gene TYMS opposite strand RNA Neighboring gene enolase superfamily member 1 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr18:686134-686722 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:697612-697744 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9242 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:712826-713405 Neighboring gene Sharpr-MPRA regulatory region 6782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13022 Neighboring gene YES proto-oncogene 1, Src family tyrosine kinase Neighboring gene RNA, U1 small nuclear 109, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9244 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:812361-812903 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:812904-813445 Neighboring gene NANOG hESC enhancer GRCh37_chr18:830325-830891 Neighboring gene bolA family member 2 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC88736

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in DNA biosynthetic process IC
Inferred by Curator
more info
PubMed 
involved_in cartilage development IEA
Inferred from Electronic Annotation
more info
 
involved_in circadian rhythm IEA
Inferred from Electronic Annotation
more info
 
involved_in dTMP biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in dTMP biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in dTTP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in developmental growth IEA
Inferred from Electronic Annotation
more info
 
involved_in intestinal epithelial cell maturation IEA
Inferred from Electronic Annotation
more info
 
involved_in liver regeneration IEA
Inferred from Electronic Annotation
more info
 
involved_in methylation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of translation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to cytokine IEA
Inferred from Electronic Annotation
more info
 
involved_in response to ethanol IEA
Inferred from Electronic Annotation
more info
 
involved_in response to folic acid IEA
Inferred from Electronic Annotation
more info
 
involved_in response to glucocorticoid IEA
Inferred from Electronic Annotation
more info
 
involved_in response to organophosphorus IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in response to progesterone IEA
Inferred from Electronic Annotation
more info
 
involved_in response to toxic substance IEA
Inferred from Electronic Annotation
more info
 
involved_in response to vitamin A IEA
Inferred from Electronic Annotation
more info
 
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in tetrahydrofolate interconversion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in uracil metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
thymidylate synthase
Names
TSase
NP_001062.1
NP_001341796.1
NP_001341797.1
XP_024307010.1
XP_054175017.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028255.1 RefSeqGene

    Range
    5001..20896
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_783

mRNA and Protein(s)

  1. NM_001071.4NP_001062.1  thymidylate synthase isoform 1

    Status: REVIEWED

    Source sequence(s)
    AK223372, BC018858, BC083512, HY016886, HY269620
    Consensus CDS
    CCDS11821.1
    UniProtKB/Swiss-Prot
    P04818, Q8WYK3, Q8WYK4
    UniProtKB/TrEMBL
    A8K9A5, Q53FB7, Q53Y97
    Related
    ENSP00000315644.10, ENST00000323274.15
    Conserved Domains (1) summary
    pfam00303
    Location:32313
    Thymidylat_synt; Thymidylate synthase
  2. NM_001354867.2NP_001341796.1  thymidylate synthase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AB077208, AK223372, BC083512, HY016886, HY269620
    Consensus CDS
    CCDS86658.1
    UniProtKB/TrEMBL
    A8K9A5, Q53FB7
    Related
    ENSP00000314727.7, ENST00000323224.7
    Conserved Domains (1) summary
    cl19097
    Location:27279
    TS_Pyrimidine_HMase; Thymidylate synthase and pyrimidine hydroxymethylase: Thymidylate synthase (TS) and deoxycytidylate hydroxymethylase (dCMP-HMase) are homologs that catalyze analogous alkylation of C5 of pyrimidine nucleotides. Both enzymes are involved in the ...
  3. NM_001354868.2NP_001341797.1  thymidylate synthase isoform 3

    Status: REVIEWED

    Source sequence(s)
    AB077207, AK223372, BC083512, HY016886, HY269620
    Consensus CDS
    CCDS86659.1
    Related
    ENSP00000314902.5, ENST00000323250.9
    Conserved Domains (1) summary
    pfam00303
    Location:32230
    Thymidylat_synt; Thymidylate synthase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    657653..673578
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451242.2XP_024307010.1  thymidylate synthase isoform X1

    Conserved Domains (1) summary
    pfam00303
    Location:26186
    Thymidylat_synt; Thymidylate synthase

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    811985..827856
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054319042.1XP_054175017.1  thymidylate synthase isoform X1