help  | about  | cite  | software

Gene : CTPS1 Homo sapiens

Name  ? CTP synthase 1 Cytological Location  1p34.2
Brief Description  CTP synthase 1
Description  This gene encodes an enzyme responsible for the catalytic conversion of UTP (uridine triphosphate) to CTP (cytidine triphospate). This reaction is an important step in the biosynthesis of phospholipids and nucleic acids. Activity of this proten is important in the immune system, and loss of function of this gene has been associated with immunodeficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
  • synonyms:
  • GATD5,
  • HGNC:2519,
  • IMD24,
  • CTP synthase,
  • GATD5,
  • CTPS,
  • CTPS1,
  • BC009408,
  • OTTHUMG00000005712,
  • uc001cgk.5,
  • CTPS,
  • NM_001905
  • identifiers:
  • 1503,
  • ENSG00000171793,
  • CTPS1

Genome feature

Region: gene ? Length: 32870  
Location: 1:40979696-41012565 Cyto location: 1p34.2


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

3753 SN Ps

5 Cross References

20 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results