PCYT1B - phosphate cytidylyltransferase 1B, choline Gene

Also Known as CTB; CCTB

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9468

About PCYT1B

Cytogenetic location: Xp22.11 Genomic coordinates (GRCh38): X:24,558,087-24,672,887 (from NCBI)

This gene has 4 transcripts (splice variants), 281 orthologues and 2 paralogues. Biased expression in brain (RPKM 6.6), testis (RPKM 2.8) and 7 other tissues.

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. [provided by RefSeq, Sep 2009]

PCYT1B Products (3)

mRNA Protein Name
NM_001163264.2 NP_001156736.1 choline-phosphate cytidylyltransferase B isoform 2
NM_001163265.2 NP_001156737.1 choline-phosphate cytidylyltransferase B isoform 3
NM_004845.5 NP_004836.2 choline-phosphate cytidylyltransferase B isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables choline-phosphate cytidylyltransferase activity IDA
IDA: Inferred from direct assay
10480912 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence References Source
involved in CDP-choline pathway IDA
IDA: Inferred from direct assay
10480912 GOA
involved in phosphatidylcholine biosynthetic process IDA
IDA: Inferred from direct assay
10480912 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
10480912 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PCYT1B Protein Structure

CTP_transf_like

CTP_transf_like: Cytidylyltransferase-like (80 - 208)

  • 0
  • 100
  • 200
  • 300
  • 369 a.a.
Protein Preferred Names Protein Names

choline-phosphate cytidylyltransferase B

  • CCT B

Related Diseases

Diseases Alias
Froelich Syndrome

  • Froehlich'S Syndrome

  • Froelich'S Syndrome

  • Adiposogenital Syndrome

  • Babinski-Froelich Syndrome

  • Froehlich Syndrome
Newborn Respiratory Distress Syndrome

  • Hyaline Membrane Disease

  • Respiratory Distress Syndrome Of Newborn

  • Neonatal Respiratory Distress

  • Hmd - Hyaline Membrane Disease

  • Neonatal Respiratory Distress Syndrome

  • Pulmonary Hyaline Membrane Disease

  • Pulmonary Hypoperfusion Syndrome Of Newborn

  • Respiratory Distress Syndrome, Newborn

  • Respiratory Distress Syndrome

  • Cardiorespiratory Distress Syndrome Of Newborn

  • Distress Respiratory Syndrome Newborn

  • Idiopathic Respiratory Distress Syndrome

  • Idiopathic Respiratory Distress Syndrome Of Newborn

  • Newborn Idiopathic Respiratory Distress Syndrome

  • Respiratory Distress Syndrome In Newborn

  • Rds - [Respiratory Distress Syndrome] Of Newborn

  • Newborn Cardiorespiratory Distress Syndrome
Developmental And Epileptic Encephalopathy 1

  • Epileptic Encephalopathy, Early Infantile, 1

  • Infantile Epileptic-Dyskinetic Encephalopathy

  • DEE1

  • Eiee1

  • Issx1

  • Xmesid

  • X-Linked Infantile Spasm Syndrome 1

  • X-Linked Infantile Spasm Syndrome

  • X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome

  • Developmental And Epileptic Encephalopathy, 1

  • Infantile Epileptic Dyskinetic Encephalopathy

  • Infantile Spasm Syndrome, X-Linked 1

  • West Syndrome, X-Linked

  • Ohtahara Syndrome, X-Linked

  • Early Infantile Epileptic Encephalopathy 1

  • Early Infantile Epileptic Encephalopathy-1

  • Issx

  • X-Linked Ohtahara Syndrome

  • X-Linked West Syndrome

  • Infantile Spasm Syndrome X-Linked 1

  • Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity

  • Ohtahara Syndrome X-Linked

  • West Syndrome X-Linked

  • Encephalopathy, Epileptic, Early Infantile, Type 1
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS10181 PCYT1B Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS29240 Phka1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus PCYT1B RGD RGD:708434
Canis familiaris PCYT1B VGNC VGNC:44330
Felis catus PCYT1B VGNC VGNC:68740
Bos taurus PCYT1B VGNC VGNC:32653
Macaca mulatta PCYT1B VGNC VGNC:75790
Mus musculus PCYT1B MGD MGI:2147987
Others PCYT1B NCBI