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Aliases for PCYT1B Gene

Aliases for PCYT1B Gene

  • Phosphate Cytidylyltransferase 1, Choline, Beta 2 3 5
  • CTP:Phosphocholine Cytidylyltransferase B 3 4
  • Phosphorylcholine Transferase B 3 4
  • EC 2.7.7.15 4 58
  • CCT-Beta 3 4
  • CCT B 3 4
  • CCTB 3 4
  • CT B 3 4
  • Phosphate Cytidylyltransferase 1, Choline, Beta Isoform 2
  • Choline-Phosphate Cytidylyltransferase B 3
  • EC 2.7.7 58
  • CTB 3

External Ids for PCYT1B Gene

Previous GeneCards Identifiers for PCYT1B Gene

  • GC0XM023407
  • GC0XM023238
  • GC0XM023778
  • GC0XM023941
  • GC0XM024339
  • GC0XM024486
  • GC0XM022318

Summaries for PCYT1B Gene

Entrez Gene Summary for PCYT1B Gene

  • 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]

GeneCards Summary for PCYT1B Gene

PCYT1B (Phosphate Cytidylyltransferase 1, Choline, Beta) is a Protein Coding gene. Among its related pathways are Metabolism and phosphatidylcholine biosynthesis. GO annotations related to this gene include choline-phosphate cytidylyltransferase activity. An important paralog of this gene is PCYT1A.

UniProtKB/Swiss-Prot for PCYT1B Gene

  • Controls phosphatidylcholine synthesis.

Gene Wiki entry for PCYT1B Gene

Additional gene information for PCYT1B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCYT1B Gene

Genomics for PCYT1B Gene

Regulatory Elements for PCYT1B Gene

Enhancers for PCYT1B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH024927 1.2 VISTA 7.1 -255.6 -255629 1 PCYT1B GC0XP024999 EEF1B2P3
GH0XH024645 0.5 ENCODE 14.7 +25.9 25913 2 RFX1 POLR2A NFYB BHLHE40 TRIM28 PCYT1B PCYT1B-AS1 GC0XP024633
GH0XH025011 1.4 FANTOM5 ENCODE dbSUPER 4.3 -339.8 -339752 2 SIN3A GLI4 ZNF2 GLIS2 ZNF366 ZNF202 ZNF680 ELF1 ZNF781 ZFP69B POLA1 ZFX EIF2S3 LOC389842 ARX PCYT1B GC0XP024999
GH0XH024733 0.5 FANTOM5 ENCODE 11.8 -60.5 -60486 0 PCYT1B LOC389842 GC0XP024744 POLA1
GH0XH024759 0.5 ENCODE 5.7 -88.3 -88313 2 HIC1 ZFHX2 FEZF1 WT1 EGR2 PCYT1B GC0XM024764 SCARNA23
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PCYT1B on UCSC Golden Path with GeneCards custom track

Genomic Location for PCYT1B Gene

Chromosome:
X
Start:
24,558,087 bp from pter
End:
24,672,862 bp from pter
Size:
114,776 bases
Orientation:
Minus strand

Genomic View for PCYT1B Gene

Genes around PCYT1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCYT1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCYT1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCYT1B Gene

Proteins for PCYT1B Gene

  • Protein details for PCYT1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5K3-PCY1B_HUMAN
    Recommended name:
    Choline-phosphate cytidylyltransferase B
    Protein Accession:
    Q9Y5K3
    Secondary Accessions:
    • A8IX00
    • B2RCX8
    • B4DK10
    • E9PD84
    • O60621
    • Q86XC9

    Protein attributes for PCYT1B Gene

    Size:
    369 amino acids
    Molecular mass:
    41940 Da
    Quaternary structure:
    • Homodimer.

    Alternative splice isoforms for PCYT1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCYT1B Gene

Selected DME Specific Peptides for PCYT1B Gene

Q9Y5K3:
  • APWTLTPEFL
  • VAHDDIPY
  • STSDIIT
  • CRYVDEV
  • FKGFTVMNE
  • RPVRVYADG

Post-translational modifications for PCYT1B Gene

  • Extensively phosphorylated. The beta-1 isoform seems to be much less phosphorylated.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PCYT1B Gene

Domains & Families for PCYT1B Gene

Gene Families for PCYT1B Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for PCYT1B Gene

Suggested Antigen Peptide Sequences for PCYT1B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y5K3

UniProtKB/Swiss-Prot:

PCY1B_HUMAN :
  • Belongs to the cytidylyltransferase family.
Family:
  • Belongs to the cytidylyltransferase family.
genes like me logo Genes that share domains with PCYT1B: view

Function for PCYT1B Gene

Molecular function for PCYT1B Gene

UniProtKB/Swiss-Prot CatalyticActivity:
CTP + phosphocholine = diphosphate + CDP-choline.
UniProtKB/Swiss-Prot Function:
Controls phosphatidylcholine synthesis.

Enzyme Numbers (IUBMB) for PCYT1B Gene

Gene Ontology (GO) - Molecular Function for PCYT1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004105 choline-phosphate cytidylyltransferase activity TAS --
GO:0016740 transferase activity IEA --
GO:0016779 nucleotidyltransferase activity IEA --
genes like me logo Genes that share ontologies with PCYT1B: view
genes like me logo Genes that share phenotypes with PCYT1B: view

Animal Models for PCYT1B Gene

MGI Knock Outs for PCYT1B:

Animal Model Products

CRISPR Products

miRNA for PCYT1B Gene

miRTarBase miRNAs that target PCYT1B

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PCYT1B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PCYT1B Gene

Localization for PCYT1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCYT1B Gene

Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCYT1B gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 3
cytosol 3

Gene Ontology (GO) - Cellular Components for PCYT1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 9593753
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with PCYT1B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PCYT1B Gene

Pathways & Interactions for PCYT1B Gene

genes like me logo Genes that share pathways with PCYT1B: view

UniProtKB/Swiss-Prot Q9Y5K3-PCY1B_HUMAN

  • Pathway: Phospholipid metabolism; phosphatidylcholine biosynthesis; phosphatidylcholine from phosphocholine: step 1/2.

Gene Ontology (GO) - Biological Process for PCYT1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001541 ovarian follicle development IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006656 phosphatidylcholine biosynthetic process TAS --
GO:0006657 CDP-choline pathway IEA --
GO:0007283 spermatogenesis IEA --
genes like me logo Genes that share ontologies with PCYT1B: view

No data available for SIGNOR curated interactions for PCYT1B Gene

Drugs & Compounds for PCYT1B Gene

(4) Drugs for PCYT1B Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Choline Approved Nutra Target, product of 166
Phosphoric acid Approved Pharma 0
Cytidine triphosphate Experimental Pharma 0
Citicoline Investigational Pharma 0

(6) Additional Compounds for PCYT1B Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
CMP-N-trimethyl-2-aminoethylphosphonate
PC(18:1(9Z)e/2:0)
  • (2-acetyloxy-3-octadec-9-enoxypropyl) 2-trimethylazaniumylethyl phosphate
  • 2-Acetyl-1-(9Z-octadecenyl)-sn-glycero-3-phosphocholine
  • PC(O-18:1(9Z)/2:0)
Phosphatidylcholines Group A
  • (Z,Z)-(1)-(7-Oleoyl-4-oxido-10-oxo-3,5,9-trioxa-4-phosphaheptacos-18-enyl)trimethylammonium 4-oxide
  • (Z,Z)-4-hydroxy-N,N,N-trimethyl-10-oxo-7-[(1-oxo-9-octadecenyl)oxy]-3,5,9-Trioxa-4-phosphaheptacos-18-en-1-aminium 4-oxide hydroxide inner salt
  • 1,2-Dioleoyl-rac-glycero-3-phosphocholine
  • 1,2-Dioleoylglycerol-3-phosphorylcholine
  • 1,2-Dioleoylglyceryl-3-phosphorylcholine
68737-67-7
Phosphatidylcholines Group B
  • 1-(1-Enyl-palmitoyl)-2-a-linolenoyl-sn-glycero-3-phosphocholine
  • 1-(1-Enyl-palmitoyl)-2-alpha-linolenoyl-sn-glycero-3-phosphocholine
  • GPCho(16:0/18:3)
  • GPCho(16:0/18:3n3)
  • GPCho(16:0/18:3w3)
88542-95-4
phosphorylcholine
  • Choline phosphate
  • N-Trimethyl-2-aminoethylphosphonate
  • O-Phosphocholine
  • Phosphocholine
  • Phosphoryl-choline
3616-04-4
genes like me logo Genes that share compounds with PCYT1B: view

Transcripts for PCYT1B Gene

Unigene Clusters for PCYT1B Gene

Phosphate cytidylyltransferase 1, choline, beta:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PCYT1B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PCYT1B Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1:
SP2:

Relevant External Links for PCYT1B Gene

GeneLoc Exon Structure for
PCYT1B
ECgene alternative splicing isoforms for
PCYT1B

Expression for PCYT1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PCYT1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PCYT1B Gene

This gene is overexpressed in Brain - Amygdala (x4.3) and Brain - Nucleus accumbens (basal ganglia) (x4.3).

Protein differential expression in normal tissues from HIPED for PCYT1B Gene

This gene is overexpressed in Synovial fluid (64.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PCYT1B Gene



NURSA nuclear receptor signaling pathways regulating expression of PCYT1B Gene:

PCYT1B

SOURCE GeneReport for Unigene cluster for PCYT1B Gene:

Hs.660708

mRNA Expression by UniProt/SwissProt for PCYT1B Gene:

Q9Y5K3-PCY1B_HUMAN
Tissue specificity: Highly expressed in testis, placenta, brain, ovary and fetus.

Evidence on tissue expression from TISSUES for PCYT1B Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with PCYT1B: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PCYT1B Gene

Orthologs for PCYT1B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PCYT1B Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia PCYT1B 34
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PCYT1B 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PCYT1B 33 34
  • 92.77 (n)
cow
(Bos Taurus)
Mammalia PCYT1B 33 34
  • 91.78 (n)
rat
(Rattus norvegicus)
Mammalia Pcyt1b 33
  • 91.78 (n)
mouse
(Mus musculus)
Mammalia Pcyt1b 33 16 34
  • 91.24 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 75 (a)
ManyToMany
chicken
(Gallus gallus)
Aves PCYT1B 33 34
  • 81.76 (n)
lizard
(Anolis carolinensis)
Reptilia PCYT1B 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pcyt1b 33
  • 78.14 (n)
zebrafish
(Danio rerio)
Actinopterygii pcyt1ba 33 34
  • 74.15 (n)
pcyt1bb 34
  • 69 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Cct1 35 34
  • 55 (a)
Cct2 35 34
  • 55 (a)
worm
(Caenorhabditis elegans)
Secernentea F08C6.2 35
  • 50 (a)
F28A10.10 35 34
  • 46 (a)
Y18H1A.11 34
  • 46 (a)
ManyToMany
pcyt-1 34
  • 38 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PCT1 34 36
  • 31 (a)
OneToMany
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.2898 33
rice
(Oryza sativa)
Liliopsida Os08g0161800 33
  • 57.73 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.5080 33
wheat
(Triticum aestivum)
Liliopsida Ta.9635 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9202 34
  • 55 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7625 33
Species where no ortholog for PCYT1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PCYT1B Gene

ENSEMBL:
Gene Tree for PCYT1B (if available)
TreeFam:
Gene Tree for PCYT1B (if available)

Paralogs for PCYT1B Gene

Paralogs for PCYT1B Gene

(1) SIMAP similar genes for PCYT1B Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PCYT1B: view

Variants for PCYT1B Gene

Sequence variations from dbSNP and Humsavar for PCYT1B Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1000071336 -- 24,629,346(+) AGATC(A/G)CCTGA intron-variant
rs1000077749 -- 24,671,754(+) CACAT(A/C)ATCTG intron-variant
rs1000087263 -- 24,582,951(+) GATGG(A/G)GCACA intron-variant
rs1000154002 -- 24,577,537(+) TCAAA(C/T)CTGAC intron-variant
rs1000169456 -- 24,632,947(+) GCTCA(C/T)GCCTG intron-variant

Variation tolerance for PCYT1B Gene

Residual Variation Intolerance Score: 49.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.36; 7.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCYT1B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCYT1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PCYT1B Gene

Disorders for PCYT1B Gene

Relevant External Links for PCYT1B

Genetic Association Database (GAD)
PCYT1B
Human Genome Epidemiology (HuGE) Navigator
PCYT1B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCYT1B

No disorders were found for PCYT1B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PCYT1B Gene

Publications for PCYT1B Gene

  1. Cloning and characterization of a second human CTP:phosphocholine cytidylyltransferase. (PMID: 9593753) Lykidis A … Jackowski S (The Journal of biological chemistry 1998) 2 3 4 22 60
  2. Distribution of CTP:phosphocholine cytidylyltransferase (CCT) isoforms. Identification of a new CCTbeta splice variant. (PMID: 10480912) Lykidis A … Jackowski S (The Journal of biological chemistry 1999) 3 4 22 60
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for PCYT1B Gene

Sources for PCYT1B Gene

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