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PCYT1A phosphate cytidylyltransferase 1, choline, alpha [ Homo sapiens (human) ]

Gene ID: 5130, updated on 8-Jul-2018
Official Symbol
PCYT1Aprovided by HGNC
Official Full Name
phosphate cytidylyltransferase 1, choline, alphaprovided by HGNC
Primary source
HGNC:HGNC:8754
See related
Ensembl:ENSG00000161217 MIM:123695; Vega:OTTHUMG00000155670
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
CT; CTA; CCTA; CTPCT; PCYT1; SMDCRD
Summary
This gene belongs to the cytidylyltransferase family and is involved in the regulation of phosphatidylcholine biosynthesis. Mutations in this gene are associated with spondylometaphyseal dysplasia with cone-rod dystrophy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]
Expression
Ubiquitous expression in duodenum (RPKM 22.3), small intestine (RPKM 20.1) and 25 other tissues See more
Orthologs
See PCYT1A in Genome Data Viewer
Location:
3q29
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (196237745..196287752, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (195961239..196014623, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene zinc finger DHHC-type containing 19 Neighboring gene uncharacterized LOC105374304 Neighboring gene solute carrier family 51 alpha subunit Neighboring gene Tctex1 domain containing 2 Neighboring gene TM4SF19-TCTEX1D2 readthrough (NMD candidate) Neighboring gene uncharacterized LOC107986031 Neighboring gene TM4SF19 antisense RNA 1 Neighboring gene transmembrane 4 L six family member 19

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
choline-phosphate cytidylyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
choline-phosphate cytidylyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
choline-phosphate cytidylyltransferase activity TAS
Traceable Author Statement
more info
 
phosphatidylcholine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylcholine binding IEA
Inferred from Electronic Annotation
more info
 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
CDP-choline pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphatidylcholine biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphatidylcholine biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
glycogen granule ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear envelope IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
choline-phosphate cytidylyltransferase A
Names
CCT A
CCT-alpha
CT A
CTP:phosphocholine cytidylyltransferase A
phosphorylcholine transferase A
NP_001299602.1
NP_005008.2

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_042817.1 RefSeqGene

    Range
    5001..55008
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001312673.1NP_001299602.1  choline-phosphate cytidylyltransferase A

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a 5' non-coding exon, thus has a shorter 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC069257, AK304534, AK309073, DB223595, L28957
    Consensus CDS
    CCDS3315.1
    UniProtKB/Swiss-Prot
    P49585
    UniProtKB/TrEMBL
    B4E322
    Related
    ENSP00000394617.1, OTTHUMP00000208443, ENST00000431016.5, OTTHUMT00000341151
    Conserved Domains (1) summary
    cd02174
    Location:75224
    CCT; CTP:phosphocholine cytidylyltransferase
  2. NM_005017.3NP_005008.2  choline-phosphate cytidylyltransferase A

    See identical proteins and their annotated locations for NP_005008.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC069257, AK309073, BC046355, DB223595
    Consensus CDS
    CCDS3315.1
    UniProtKB/Swiss-Prot
    P49585
    Related
    ENSP00000292823.2, OTTHUMP00000208442, ENST00000292823.6, OTTHUMT00000341147
    Conserved Domains (1) summary
    cd02174
    Location:75224
    CCT; CTP:phosphocholine cytidylyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    196237745..196287752 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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