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

Gene ID: 5833, updated on 13-Mar-2020

Summary

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
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

Genomic context

See PCYT2 in Genome Data Viewer
Location:
17q25.3
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (81900958..81911432, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79860777..79869340, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene Rho GDP dissociation inhibitor alpha Neighboring gene Aly/REF export factor Neighboring gene anaphase promoting complex subunit 11 Neighboring gene neuropeptide B Neighboring gene sirtuin 7 Neighboring gene MAF bZIP transcription factor G

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?

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ethanolamine-phosphate cytidylyltransferase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
phosphatidylethanolamine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
phosphatidylethanolamine biosynthetic process TAS
Traceable Author Statement
more info
 
phospholipid biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 

General protein information

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_016880400.1
XP_016880401.1

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.

mRNA and Protein(s)

  1. NM_001184917.3NP_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/Swiss-Prot
    Q99447
    Related
    ENSP00000442050.2, ENST00000538721.6
    Conserved Domains (1) summary
    cl28626
    Location:14390
    PLN02406; ethanolamine-phosphate cytidylyltransferase
  2. NM_001256433.3NP_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
    Related
    ENSP00000458931.1, ENST00000576343.5
    Conserved Domains (3) summary
    PTZ00308
    Location:14318
    PTZ00308; ethanolamine-phosphate cytidylyltransferase; Provisional
    cd02173
    Location:158310
    ECT; CTP:phosphoethanolamine cytidylyltransferase (ECT)
    cl00015
    Location:21109
    nt_trans; nucleotidyl transferase superfamily
  3. NM_001256434.3NP_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
    Conserved Domains (2) summary
    cd02173
    Location:171323
    ECT; CTP:phosphoethanolamine cytidylyltransferase (ECT)
    cl00015
    Location:2104
    nt_trans; nucleotidyl transferase superfamily
  4. NM_001256435.3NP_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/Swiss-Prot
    Q99447
    Related
    ENSP00000458330.1, ENST00000570388.5
    Conserved Domains (1) summary
    cl28626
    Location:2294
    PLN02406; ethanolamine-phosphate cytidylyltransferase
  5. NM_001282203.2NP_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/Swiss-Prot
    Q99447
    UniProtKB/TrEMBL
    B3KSC8
    Related
    ENSP00000331719.3, ENST00000331285.7
    Conserved Domains (1) summary
    cl28626
    Location:2294
    PLN02406; ethanolamine-phosphate cytidylyltransferase
  6. NM_001282204.2NP_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/Swiss-Prot
    Q99447
    UniProtKB/TrEMBL
    B7Z4W6
    Related
    ENSP00000461190.1, ENST00000570391.5
    Conserved Domains (1) summary
    cl28626
    Location:1340
    PLN02406; ethanolamine-phosphate cytidylyltransferase
  7. NM_001330518.2NP_001317447.1  ethanolamine-phosphate cytidylyltransferase isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC145207, BC073815
    Consensus CDS
    CCDS82220.1
    UniProtKB/TrEMBL
    I3L1R7
    Related
    ENSP00000459044.1, ENST00000571105.5
    Conserved Domains (1) summary
    cl28626
    Location:14350
    PLN02406; ethanolamine-phosphate cytidylyltransferase
  8. NM_002861.5NP_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
    Q99447
    Related
    ENSP00000439245.2, ENST00000538936.6
    Conserved Domains (1) summary
    cl28626
    Location:14372
    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_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    81900958..81911432 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006722287.4XP_006722350.1  ethanolamine-phosphate cytidylyltransferase isoform X1

    Conserved Domains (3) summary
    PTZ00308
    Location:14368
    PTZ00308; ethanolamine-phosphate cytidylyltransferase; Provisional
    cd02173
    Location:230360
    ECT; CTP:phosphoethanolamine cytidylyltransferase (ECT)
    cd02174
    Location:21163
    CCT; CTP:phosphocholine cytidylyltransferase
  2. XM_017024912.2XP_016880401.1  ethanolamine-phosphate cytidylyltransferase isoform X4

    Conserved Domains (1) summary
    cd02173
    Location:43195
    ECT; CTP:phosphoethanolamine cytidylyltransferase (ECT)
  3. XM_017024911.1XP_016880400.1  ethanolamine-phosphate cytidylyltransferase isoform X3

    UniProtKB/Swiss-Prot
    Q99447
    Conserved Domains (1) summary
    cl28626
    Location:1340
    PLN02406; ethanolamine-phosphate cytidylyltransferase
  4. XM_005256387.3XP_005256444.1  ethanolamine-phosphate cytidylyltransferase isoform X2

    See identical proteins and their annotated locations for XP_005256444.1

    Conserved Domains (3) summary
    PTZ00308
    Location:1358
    PTZ00308; ethanolamine-phosphate cytidylyltransferase; Provisional
    cd02173
    Location:198350
    ECT; CTP:phosphoethanolamine cytidylyltransferase (ECT)
    cd02174
    Location:1131
    CCT; CTP:phosphocholine cytidylyltransferase
  5. XM_005256386.4XP_005256443.1  ethanolamine-phosphate cytidylyltransferase isoform X2

    See identical proteins and their annotated locations for XP_005256443.1

    Conserved Domains (3) summary
    PTZ00308
    Location:1358
    PTZ00308; ethanolamine-phosphate cytidylyltransferase; Provisional
    cd02173
    Location:198350
    ECT; CTP:phosphoethanolamine cytidylyltransferase (ECT)
    cd02174
    Location:1131
    CCT; CTP:phosphocholine cytidylyltransferase

RNA

  1. XR_002958050.1 RNA Sequence

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