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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	Verweise	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	Verweise	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	Verweise	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

Pre-clinical Phase

Bioactive Molecules (2)

Art. -Nr.	Produktname	Wirkung	Reinheit	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