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    PCYT2 phosphate cytidylyltransferase 2, ethanolamine [ Homo sapiens (human) ]

    Gene ID: 5833, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PCYT2provided by HGNC
    Official Full Name
    phosphate cytidylyltransferase 2, ethanolamineprovided by HGNC
    Primary source
    HGNC:HGNC:8756
    See related
    Ensembl:ENSG00000185813 MIM:602679; AllianceGenome:HGNC:8756
    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
    ET; SPG82
    Summary
    This gene encodes an enzyme that catalyzes the formation of CDP-ethanolamine from CTP and phosphoethanolamine in the Kennedy pathway of phospholipid synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
    Expression
    Broad expression in testis (RPKM 31.9), duodenum (RPKM 10.8) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PCYT2 in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (81900958..81911399, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (82768118..82778559, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79858834..79869275, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904086 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79825239-79825867 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79825868-79826497 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79826498-79827126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9158 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12981 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9159 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12983 Neighboring gene Rho GDP dissociation inhibitor alpha Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:79846281-79847480 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9161 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:79850899-79851114 Neighboring gene Aly/REF export factor Neighboring gene anaphase promoting complex subunit 11 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9162 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9163 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9164 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9165 Neighboring gene neuropeptide B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9167 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79875237-79876133 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12984 Neighboring gene sirtuin 7 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:79880785-79881984 Neighboring gene MAF bZIP transcription factor G Neighboring gene MAFG antisense RNA 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. CTP:phosphoethanolamine cytidylyltransferase. Bladergroen BA, et al. Biochim Biophys Acta, 1997 Sep 4. PMID 9370320
    2. Characterization of transcription factors and cis-acting elements that regulate human CTP: phosphoethanolamine cytidylyltransferase (Pcyt2). Johnson CM, et al. Biochim Biophys Acta, 2005 Aug 15. PMID 16023412
    3. Metabolic and molecular aspects of ethanolamine phospholipid biosynthesis: the role of CTP:phosphoethanolamine cytidylyltransferase (Pcyt2). Bakovic M, et al. Biochem Cell Biol, 2007 Jun. PMID 17612623
    4. Breast cancer cells adapt to metabolic stress by increasing ethanolamine phospholipid synthesis and CTP:ethanolaminephosphate cytidylyltransferase-Pcyt2 activity. Zhu L, et al. Biochem Cell Biol, 2012 Apr. PMID 22339418
    5. Phosphoethanolamine Accumulation Protects Cancer Cells under Glutamine Starvation through Downregulation of PCYT2. Osawa T, et al. Cell Rep, 2019 Oct 1. PMID 31577958

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Phosphoethanolamine Accumulation Protects Cancer Cells under Glutamine Starvation through Downregulation of PCYT2.
      Title: Phosphoethanolamine Accumulation Protects Cancer Cells under Glutamine Starvation through Downregulation of PCYT2.
    2. our data establish PCYT2 as a disease gene for a new complex hereditary spastic paraplegia and confirm that etherlipid homeostasis is important for the development and function of the brain
      Title: Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
    3. These results suggest that the N-terminal CT domain of hECT contributes to its catalytic reaction, but C-terminal CT domain does not.
      Title: Human CTP:phosphoethanolamine cytidylyltransferase: enzymatic properties and unequal catalytic roles of CTP-binding motifs in two cytidylyltransferase domains.
    4. differences in phosphorylation between Pcyt2 isoforms
      Title: Isoform-specific and protein kinase C-mediated regulation of CTP:phosphoethanolamine cytidylyltransferase phosphorylation.
    5. Pcyt2 expression is responsive to tumor nutritional micro-environment, up-regulated in response to metabolic stress under conditions of serum deprivation.
      Title: Breast cancer cells adapt to metabolic stress by increasing ethanolamine phospholipid synthesis and CTP:ethanolaminephosphate cytidylyltransferase-Pcyt2 activity.
    6. EGR1 is an important transcriptional stimulator of the human PCYT2 and that conditions that modify EGR1 also affect the function of ECT and consequently PE synthesis
      Title: Stimulation of the human CTP:phosphoethanolamine cytidylyltransferase gene by early growth response protein 1.
    7. The Pcyt2 promoter is driven by a functional CAAT box (-90/-73) and by negative (-385/-255) and positive regulatory elements (-255/-153) in the upstream regions.
      Title: Characterization of transcription factors and cis-acting elements that regulate human CTP: phosphoethanolamine cytidylyltransferase (Pcyt2).
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Spastic paraplegia 82, autosomal recessive
    MedGen: C5394037 OMIM: 618770 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of phosphate cytidylyltransferase 2, ethanolamine (PCYT2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ethanolamine-phosphate cytidylyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ethanolamine-phosphate cytidylyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables ethanolamine-phosphate cytidylyltransferase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in phosphatidylethanolamine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phosphatidylethanolamine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phosphatidylethanolamine biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in phospholipid biosynthetic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    ethanolamine-phosphate cytidylyltransferase
    Names
    CTP:phosphoethanolamine cytidylyltransferase
    phosphorylethanolamine transferase
    NP_001171846.1
    NP_001243362.1
    NP_001243363.1
    NP_001243364.1
    NP_001269132.1
    NP_001269133.1
    NP_001317447.1
    NP_002852.1
    XP_005256443.1
    XP_005256444.1
    XP_006722350.1
    XP_054172799.1
    XP_054172800.1
    XP_054172801.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001184917.3 → NP_001171846.1  ethanolamine-phosphate cytidylyltransferase isoform 1

      See identical proteins and their annotated locations for NP_001171846.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC145207, AK315777, CA411562
      Consensus CDS
      CCDS54178.1
      UniProtKB/TrEMBL
      B7Z4W6
      Related
      ENSP00000442050.2, ENST00000538721.6
      Conserved Domains (1) summary
      cl28626
      Location:14 → 390
      PLN02406; ethanolamine-phosphate cytidylyltransferase

    2. NM_001256433.3 → NP_001243362.1  ethanolamine-phosphate cytidylyltransferase isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks an alternate in-frame exon in both the 5' and central coding regions, compared to variant 1, resulting in an isoform (5) that is shorter than isoform 1.
      Source sequence(s)
      AC145207, BX419403, CA411562, HY042603
      UniProtKB/TrEMBL
      I3L1L9
      Related
      ENSP00000458931.1, ENST00000576343.5
      Conserved Domains (3) summary
      PTZ00308
      Location:14 → 318
      PTZ00308; ethanolamine-phosphate cytidylyltransferase; Provisional
      cd02173
      Location:158 → 310
      ECT; CTP:phosphoethanolamine cytidylyltransferase (ECT)
      cl00015
      Location:21 → 109
      nt_trans; nucleotidyl transferase superfamily

    3. NM_001256434.3 → NP_001243363.1  ethanolamine-phosphate cytidylyltransferase isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in its 5' coding region and uses an alternate downstream start codon, compared to variant 1. The encoded isoform (3) has a distinct and shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC145207, AY251539, CA411562, HY042603
      UniProtKB/TrEMBL
      B3KSC8
      Conserved Domains (2) summary
      cd02173
      Location:171 → 323
      ECT; CTP:phosphoethanolamine cytidylyltransferase (ECT)
      cl00015
      Location:2 → 104
      nt_trans; nucleotidyl transferase superfamily

    4. NM_001256435.3 → NP_001243364.1  ethanolamine-phosphate cytidylyltransferase isoform 4

      See identical proteins and their annotated locations for NP_001243364.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in its 5' UTR, uses a downstream in-frame start codon, and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (4) is shorter at the N-terminus, compared to isoform 1. Both variants 4 and 5 encode the same isoform (4).
      Source sequence(s)
      AC145207, AK301723, CA411562, HY042603
      Consensus CDS
      CCDS58610.1
      UniProtKB/TrEMBL
      B3KSC8
      Related
      ENSP00000458330.1, ENST00000570388.5
      Conserved Domains (1) summary
      PTZ00308
      Location:2 → 294
      PTZ00308; ethanolamine-phosphate cytidylyltransferase; Provisional

    5. NM_001282203.2 → NP_001269132.1  ethanolamine-phosphate cytidylyltransferase isoform 4

      See identical proteins and their annotated locations for NP_001269132.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and has many differences in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (4) is shorter at the N-terminus, compared to isoform 1. Both variants 4 and 5 encode the same isoform (4).
      Source sequence(s)
      AC145207, AK093328, CA411562
      Consensus CDS
      CCDS58610.1
      UniProtKB/TrEMBL
      B3KSC8
      Related
      ENSP00000331719.3, ENST00000331285.7
      Conserved Domains (1) summary
      PTZ00308
      Location:2 → 294
      PTZ00308; ethanolamine-phosphate cytidylyltransferase; Provisional

    6. NM_001282204.2 → NP_001269133.1  ethanolamine-phosphate cytidylyltransferase isoform 6

      See identical proteins and their annotated locations for NP_001269133.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and has many differences in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (6) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AC145207, AK297996, CA411562, HY031003
      Consensus CDS
      CCDS62364.1
      UniProtKB/TrEMBL
      B7Z4W6
      Related
      ENSP00000461190.1, ENST00000570391.5
      Conserved Domains (1) summary
      cl28626
      Location:1 → 340
      PLN02406; ethanolamine-phosphate cytidylyltransferase

    7. NM_001330518.2 → NP_001317447.1  ethanolamine-phosphate cytidylyltransferase isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC145207, BC073815
      Consensus CDS
      CCDS82220.1
      UniProtKB/TrEMBL
      B7Z4W6, I3L1R7
      Related
      ENSP00000459044.1, ENST00000571105.5
      Conserved Domains (1) summary
      cl28626
      Location:14 → 350
      PLN02406; ethanolamine-phosphate cytidylyltransferase

    8. NM_002861.5 → NP_002852.1  ethanolamine-phosphate cytidylyltransferase isoform 2

      See identical proteins and their annotated locations for NP_002852.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AC145207, BC010075, CA411562
      Consensus CDS
      CCDS11791.1
      UniProtKB/Swiss-Prot
      B7Z7A5, B7ZAS0, F5H8B1, Q6IBM3, Q96G08, Q99447
      UniProtKB/TrEMBL
      B7Z4W6
      Related
      ENSP00000439245.3, ENST00000538936.7
      Conserved Domains (1) summary
      cl28626
      Location:14 → 372
      PLN02406; ethanolamine-phosphate cytidylyltransferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      81900958..81911399 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006722287.5 → XP_006722350.1  ethanolamine-phosphate cytidylyltransferase isoform X1

      UniProtKB/TrEMBL
      B7Z4W6
      Conserved Domains (3) summary
      PTZ00308
      Location:14 → 368
      PTZ00308; ethanolamine-phosphate cytidylyltransferase; Provisional
      cd02173
      Location:230 → 360
      ECT; CTP:phosphoethanolamine cytidylyltransferase (ECT)
      cd02174
      Location:21 → 163
      CCT; CTP:phosphocholine cytidylyltransferase

    2. XM_005256387.4 → XP_005256444.1  ethanolamine-phosphate cytidylyltransferase isoform X2

      See identical proteins and their annotated locations for XP_005256444.1

      UniProtKB/TrEMBL
      B7Z4W6
      Conserved Domains (1) summary
      PTZ00308
      Location:1 → 358
      PTZ00308; ethanolamine-phosphate cytidylyltransferase; Provisional

    3. XM_005256386.5 → XP_005256443.1  ethanolamine-phosphate cytidylyltransferase isoform X2

      See identical proteins and their annotated locations for XP_005256443.1

      UniProtKB/TrEMBL
      B7Z4W6
      Conserved Domains (1) summary
      PTZ00308
      Location:1 → 358
      PTZ00308; ethanolamine-phosphate cytidylyltransferase; Provisional

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      82768118..82778559 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316824.1 → XP_054172799.1  ethanolamine-phosphate cytidylyltransferase isoform X1

    2. XM_054316825.1 → XP_054172800.1  ethanolamine-phosphate cytidylyltransferase isoform X2

    3. XM_054316826.1 → XP_054172801.1  ethanolamine-phosphate cytidylyltransferase isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99447.1 GenPept UniProtKB/Swiss-Prot:Q99447

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