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PCYT1B phosphate cytidylyltransferase 1, choline, beta [ Homo sapiens (human) ]

Gene ID: 9468, updated on 13-Mar-2020

Summary

Official Symbol
PCYT1Bprovided by HGNC
Official Full Name
phosphate cytidylyltransferase 1, choline, betaprovided by HGNC
Primary source
HGNC:HGNC:8755
See related
Ensembl:ENSG00000102230 MIM:300948
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CTB; CCTB
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]
Expression
Biased expression in brain (RPKM 6.6), testis (RPKM 2.8) and 7 other tissues See more
Orthologs

Genomic context

See PCYT1B in Genome Data Viewer
Location:
Xp22.11
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (24558087..24672887, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (24576204..24690979, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S26 pseudogene 58 Neighboring gene pyruvate dehydrogenase kinase 3 Neighboring gene SNRPE pseudogene 9 Neighboring gene PCYT1B antisense RNA 1 Neighboring gene ribosomal protein L23 pseudogene Neighboring gene H2B histone pseudogene 7 Neighboring gene DNA polymerase alpha 1, catalytic subunit Neighboring gene small Cajal body-specific RNA 23

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
choline-phosphate cytidylyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylcholine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
CDP-choline pathway IEA
Inferred from Electronic Annotation
more info
 
ovarian follicle development IEA
Inferred from Electronic Annotation
more info
 
phosphatidylcholine biosynthetic process TAS
Traceable Author Statement
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
choline-phosphate cytidylyltransferase B
Names
CCT B
CCT-beta
CT B
CTP:phosphocholine cytidylyltransferase b
phosphorylcholine transferase B
NP_001156736.1
NP_001156737.1
NP_004836.2
XP_016885466.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_013253.1 RefSeqGene

    Range
    30516..119776
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001163264.2NP_001156736.1  choline-phosphate cytidylyltransferase B isoform 2

    See identical proteins and their annotated locations for NP_001156736.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate 5' terminal exon compared to variant 1. This results in the use of a different start codon, and a shorter isoform (2) with a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC079168, AK226121, BC045634
    Consensus CDS
    CCDS55392.1
    UniProtKB/Swiss-Prot
    Q9Y5K3
    Related
    ENSP00000368440.1, ENST00000379145.5
    Conserved Domains (1) summary
    cl28626
    Location:54296
    PLN02406; ethanolamine-phosphate cytidylyltransferase
  2. NM_001163265.2NP_001156737.1  choline-phosphate cytidylyltransferase B isoform 3

    See identical proteins and their annotated locations for NP_001156737.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) is alternatively spliced at the 3' end compared to variant 1, resulting in a frameshift and a shorter isoform (3) with a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC079168, AF052510, AK226121, AK315323, BC045634
    Consensus CDS
    CCDS55391.1
    UniProtKB/Swiss-Prot
    Q9Y5K3
    Related
    ENSP00000349211.4, ENST00000356768.8
    Conserved Domains (1) summary
    cd02174
    Location:75224
    CCT; CTP:phosphocholine cytidylyltransferase
  3. NM_004845.5NP_004836.2  choline-phosphate cytidylyltransferase B isoform 1

    See identical proteins and their annotated locations for NP_004836.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes isoform 1.
    Source sequence(s)
    AC079168, AK226121, AK315323, BC045634
    Consensus CDS
    CCDS14213.1
    UniProtKB/Swiss-Prot
    Q9Y5K3
    Related
    ENSP00000368439.2, ENST00000379144.7
    Conserved Domains (1) summary
    cl28626
    Location:72314
    PLN02406; ethanolamine-phosphate cytidylyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    24558087..24672887 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029977.1XP_016885466.1  choline-phosphate cytidylyltransferase B isoform X1

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