Gene Gene information from NCBI Gene database.
Entrez ID 9468
Gene name Phosphate cytidylyltransferase 1B, choline
Gene symbol PCYT1B
Synonyms (NCBI Gene)
CCTBCTB
Chromosome X
Chromosome location Xp22.11
Summary 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.
218
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0001541 Process Ovarian follicle development IEA
GO:0003824 Function Catalytic activity IEA
GO:0004105 Function Choline-phosphate cytidylyltransferase activity IBA
GO:0004105 Function Choline-phosphate cytidylyltransferase activity IDA 10480912
GO:0004105 Function Choline-phosphate cytidylyltransferase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300948 8755 ENSG00000102230
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARTHRITIS, JUVENILE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 31156552
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 30417023
★☆☆☆☆
Found in Text Mining only
Amaurosis congenita of Leber, type 1 Leber congenital amaurosis BEFREE 27645772
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 24708899, 30179644
★☆☆☆☆
Found in Text Mining only
Aplasia Cutis Congenita Aplasia Cutis Congenita BEFREE 31156552
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 30243560
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 30243560
★☆☆☆☆
Found in Text Mining only
Behcet Syndrome Behcet disease Pubtator 15196263 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 27012814
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 30066888
★☆☆☆☆
Found in Text Mining only