PCYT1B - phosphate cytidylyltransferase 1B, choline Gene

Homo sapiens

Also known as CTB; CCTB

Gene ID: 9468 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10181	PCYT1B Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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