Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9468
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphate cytidylyltransferase 1B, choline
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PCYT1B
Synonyms (NCBI Gene) Gene synonyms aliases
CCTB, CTB
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp22.11
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene belongs to the cytidylyltransferase family. It is involved in the regulation of phosphatidylcholine biosynthesis. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene.
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT032240 hsa-let-7b-5p Proteomics 18668040
MIRT713405 hsa-miR-6741-3p HITS-CLIP 19536157
MIRT713405 hsa-miR-6741-3p HITS-CLIP 19536157
MIRT1218864 hsa-miR-105 CLIP-seq
MIRT1218865 hsa-miR-1207-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001541 Process Ovarian follicle development IEA
GO:0004105 Function Choline-phosphate cytidylyltransferase activity IBA 21873635
GO:0004105 Function Choline-phosphate cytidylyltransferase activity IDA 10480912
GO:0005737 Component Cytoplasm TAS 9593753
GO:0005783 Component Endoplasmic reticulum IDA 10480912
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300948 8755 ENSG00000102230
Protein
UniProt ID Q9Y5K3
Protein name Choline-phosphate cytidylyltransferase B (EC 2.7.7.15) (CCT-beta) (CTP:phosphocholine cytidylyltransferase B) (CCT B) (CT B) (Phosphorylcholine transferase B)
Protein function [Isoform 1]: Catalyzes the key rate-limiting step in the CDP-choline pathway for phosphatidylcholine biosynthesis. ; [Isoform 2]: Catalyzes the key rate-limiting step in the CDP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01467 CTP_transf_like 80 208 Cytidylyltransferase-like Domain
Tissue specificity TISSUE SPECIFICITY: [Isoform 1]: Highly expressed in testis, placenta, brain, ovary, liver and fetal lung. {ECO:0000269|PubMed:10480912, ECO:0000269|PubMed:9593753}.; TISSUE SPECIFICITY: [Isoform 2]: Expressed in brain, liver and fetal lung. {ECO:0000269|
Sequence
MPVVTTDAESETGIPKSLSNEPPSETMEEIEHTCPQPRLTLTAPAPFADETNCQCQAPHE
KLTIAQARLGTPADRPVRVYADGIFDLFHSGHARALMQAKTLFPNSYLLVGVCSDDLTHK
FKGFTVMNEAERYEALRHCRYVDEVIRDAPWTLTPEFLEKHKIDFVAHDDIPYSSAGSDD
VYKHIKEAGMFVPTQRTEGISTSDIITR
IVRDYDVYARRNLQRGYTAKELNVSFINEKRY
RFQNQVDKMKEKVKNVEERSKEFVNRVEEKSHDLIQKWEEKSREFIGNFLELFGPDGAWK
QMFQERSSRMLQALSPKQSPVSSPTRSRSPSRSPSPTFSWLPLKTSPPSSPKAASASISS
MSEGDEDEK
Sequence length 369
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Phosphonate and phosphinate metabolism
Glycerophospholipid metabolism
Metabolic pathways
Choline metabolism in cancer
  Synthesis of PC
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arthritis Juvenile arthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 19565504
Unknown
Disease term Disease name Evidence References Source
Restless Legs Syndrome Restless Legs Syndrome GWAS
Insomnia Insomnia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Behcet Syndrome Associate 15196263
Diabetes Mellitus Associate 20956025
Diabetes Mellitus Type 1 Inhibit 25714914
Infections Inhibit 22845664
Inflammation Inhibit 20956025
Respiratory Distress Syndrome Newborn Associate 31964590
Uveitis Inhibit 15196263