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UniProtKB - P49585 (PCY1A_HUMAN)

Entry version 175 (18 Sep 2019)
Sequence version 2 (15 Jan 2008)
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Protein

Choline-phosphate cytidylyltransferase A

Gene

PCYT1A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Controls phosphatidylcholine synthesis.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

By phosphorylation.By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: phosphatidylcholine biosynthesis

This protein is involved in step 1 of the subpathway that synthesizes phosphatidylcholine from phosphocholine.By similarity
Proteins known to be involved in the 2 steps of the subpathway in this organism are:
  1. Choline-phosphate cytidylyltransferase B (PCYT1B), Choline-phosphate cytidylyltransferase A (PCYT1A)
  2. Cholinephosphotransferase 1 (CHPT1), Choline/ethanolaminephosphotransferase 1 (CEPT1)
This subpathway is part of the pathway phosphatidylcholine biosynthesis, which is itself part of Phospholipid metabolism.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes phosphatidylcholine from phosphocholine, the pathway phosphatidylcholine biosynthesis and in Phospholipid metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei122CTPBy similarity1
Binding sitei122SubstrateBy similarity1
Binding sitei151SubstrateBy similarity1
Binding sitei173CTPBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi84 – 92CTPBy similarity9
Nucleotide bindingi168 – 169CTPBy similarity2
Nucleotide bindingi196 – 200CTPBy similarity5

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionNucleotidyltransferase, Transferase
Biological processLipid biosynthesis, Lipid metabolism, Phospholipid biosynthesis, Phospholipid metabolism

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS08577-MONOMER

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1483191 Synthesis of PC

SIGNOR Signaling Network Open Resource

More...SIGNORi		P49585

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00753;UER00739

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Choline-phosphate cytidylyltransferase A (EC:2.7.7.15By similarity)
Alternative name(s):
CCT-alpha
CTP:phosphocholine cytidylyltransferase A
Short name:
CCT A
Short name:
CT A
Phosphorylcholine transferase A
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PCYT1A
Synonyms:CTPCT, PCYT1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:8754 PCYT1A

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		123695 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P49585

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by postnatal growth deficiency resulting in profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07108399A → T in SMDCRD. 1 PublicationCorresponds to variant dbSNP:rs587777191EnsemblClinVar.1
Natural variantiVAR_07108499A → V in SMDCRD. 1 PublicationCorresponds to variant dbSNP:rs587777189EnsemblClinVar.1
Natural variantiVAR_071085129E → K in SMDCRD. 2 PublicationsCorresponds to variant dbSNP:rs587777194EnsemblClinVar.1
Natural variantiVAR_071086150P → A in SMDCRD. 1 PublicationCorresponds to variant dbSNP:rs587777190EnsemblClinVar.1
Natural variantiVAR_071087191F → L in SMDCRD. 1 PublicationCorresponds to variant dbSNP:rs587777195EnsemblClinVar.1
Natural variantiVAR_071088223R → S in SMDCRD. 1 PublicationCorresponds to variant dbSNP:rs540053239EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi37C → S: Abolishes formation of the interchain disulfide that can be observed when the enzyme is treated with copper phenanthrolene (in vitro). 1 Publication1

Keywords - Diseasei

Cone-rod dystrophy, Disease mutation, Dwarfism

Organism-specific databases

DisGeNET

More...DisGeNETi		5130

MalaCards human disease database

More...MalaCardsi		PCYT1A
MIMi608940 phenotype

Open Targets

More...OpenTargetsi		ENSG00000161217

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		65 Leber congenital amaurosis
85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA33099

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P49585

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL4105855

Drug and drug target database

More...DrugBanki		DB00122 Choline
DB14006 Choline salicylate
DB00709 Lamivudine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PCYT1A

Domain mapping of disease mutations (DMDM)

More...DMDMi		166214967

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002084531 – 367Choline-phosphate cytidylyltransferase AAdd BLAST367

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1
Modified residuei8N6-acetyllysineCombined sources1
Modified residuei233PhosphoserineCombined sources1
Modified residuei315PhosphoserineCombined sources1
Modified residuei319PhosphoserineCombined sources1
Modified residuei321PhosphoserineBy similarity1
Modified residuei322PhosphoserineBy similarity1
Modified residuei323PhosphoserineBy similarity1
Modified residuei325PhosphothreonineBy similarity1
Modified residuei329PhosphoserineBy similarity1
Modified residuei331PhosphoserineCombined sources1
Modified residuei333PhosphoserineBy similarity1
Modified residuei342PhosphothreonineCombined sources1
Modified residuei343PhosphoserineCombined sources1
Modified residuei347PhosphoserineCombined sources1
Modified residuei352PhosphoserineCombined sources1
Modified residuei362PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

The serine residues of the C-terminus are phosphorylated. The inactive soluble form is stabilized by phosphorylation, the active membrane bound form is promoted by anionic lipids or diacylglycerol, and is stabilized by dephosphorylation (By similarity).By similarity
Monoubiquitinated by the SCF(FBXL2) complex, leading to proteasomal degradation.By similarity

Keywords - PTMi

Acetylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P49585

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P49585

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P49585

MaxQB - The MaxQuant DataBase

More...MaxQBi		P49585

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P49585

PeptideAtlas

More...PeptideAtlasi		P49585

PRoteomics IDEntifications database

More...PRIDEi		P49585

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		56021

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P49585

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P49585

Miscellaneous databases

CutDB - Proteolytic event database

More...PMAP-CutDBi		P49585

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000161217 Expressed in 209 organ(s), highest expression level in tendon

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P49585 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P49585 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA035428

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
PCYT1BQ9Y5K3-34EBI-2563309,EBI-12280028

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		111157, 15 interactors

Protein interaction database and analysis system

More...IntActi		P49585, 31 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000292823

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P49585

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati319 – 32416
Repeati329 – 3332; approximate5
Repeati343 – 34836

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni228 – 287AmphipathicSequence analysisAdd BLAST60
Regioni256 – 2883 X 11 AA approximate tandem repeatsAdd BLAST33
Regioni319 – 3483 X repeatsAdd BLAST30

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the cytidylyltransferase family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2804 Eukaryota
COG0615 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157384

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000230945

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P49585

KEGG Orthology (KO)

More...KOi		K00968

Database of Orthologous Groups

More...OrthoDBi		1172502at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P49585

TreeFam database of animal gene trees

More...TreeFami		TF106336

Family and domain databases

Conserved Domains Database

More...CDDi		cd02174 CCT, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.50.620, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR041723 CCT
IPR004821 Cyt_trans-like
IPR014729 Rossmann-like_a/b/a_fold

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01467 CTP_transf_like, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00125 cyt_tran_rel, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 9 potential isoforms that are computationally mapped.Show allAlign All

P49585-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDAQCSAKVN ARKRRKEAPG PNGATEEDGV PSKVQRCAVG LRQPAPFSDE 
        60         70         80         90        100
IEVDFSKPYV RVTMEEASRG TPCERPVRVY ADGIFDLFHS GHARALMQAK 
       110        120        130        140        150
NLFPNTYLIV GVCSDELTHN FKGFTVMNEN ERYDAVQHCR YVDEVVRNAP 
       160        170        180        190        200
WTLTPEFLAE HRIDFVAHDD IPYSSAGSDD VYKHIKEAGM FAPTQRTEGI 
       210        220        230        240        250
STSDIITRIV RDYDVYARRN LQRGYTAKEL NVSFINEKKY HLQERVDKVK 
       260        270        280        290        300
KKVKDVEEKS KEFVQKVEEK SIDLIQKWEE KSREFIGSFL EMFGPEGALK 
       310        320        330        340        350
HMLKEGKGRM LQAISPKQSP SSSPTRERSP SPSFRWPFSG KTSPPCSPAN 
       360 
LSRHKAAAYD ISEDEED
Length:367
Mass (Da):41,731
Last modified:January 15, 2008 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i38CE9D5CF2E2AEE2
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JEJ2C9JEJ2_HUMAN
Choline-phosphate cytidylyltransfer...
PCYT1A
380Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J050C9J050_HUMAN
Choline-phosphate cytidylyltransfer...
PCYT1A
293Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JPY0C9JPY0_HUMAN
Choline-phosphate cytidylyltransfer...
PCYT1A
133Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J2E1C9J2E1_HUMAN
Choline-phosphate cytidylyltransfer...
PCYT1A
212Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JVS0C9JVS0_HUMAN
Choline-phosphate cytidylyltransfer...
PCYT1A
115Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WAZ5F8WAZ5_HUMAN
Choline-phosphate cytidylyltransfer...
PCYT1A
134Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WBU2F8WBU2_HUMAN
Choline-phosphate cytidylyltransfer...
PCYT1A
90Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C1T3H7C1T3_HUMAN
Choline-phosphate cytidylyltransfer...
PCYT1A
201Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7BZN1H7BZN1_HUMAN
Choline-phosphate cytidylyltransfer...
PCYT1A
137Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti251K → E in AAA72127 (PubMed:7918629).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07108399A → T in SMDCRD. 1 PublicationCorresponds to variant dbSNP:rs587777191EnsemblClinVar.1
Natural variantiVAR_07108499A → V in SMDCRD. 1 PublicationCorresponds to variant dbSNP:rs587777189EnsemblClinVar.1
Natural variantiVAR_071085129E → K in SMDCRD. 2 PublicationsCorresponds to variant dbSNP:rs587777194EnsemblClinVar.1
Natural variantiVAR_071086150P → A in SMDCRD. 1 PublicationCorresponds to variant dbSNP:rs587777190EnsemblClinVar.1
Natural variantiVAR_071087191F → L in SMDCRD. 1 PublicationCorresponds to variant dbSNP:rs587777195EnsemblClinVar.1
Natural variantiVAR_071088223R → S in SMDCRD. 1 PublicationCorresponds to variant dbSNP:rs540053239EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
L28957 mRNA Translation: AAA72127.1
EU280320 Genomic DNA Translation: ABX44666.1
CH471191 Genomic DNA Translation: EAW53655.1
CH471191 Genomic DNA Translation: EAW53662.1
BC046355 mRNA Translation: AAH46355.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS3315.1

Protein sequence database of the Protein Information Resource

More...PIRi		S50145

NCBI Reference Sequences

More...RefSeqi		NP_001299602.1, NM_001312673.1
NP_005008.2, NM_005017.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000292823; ENSP00000292823; ENSG00000161217
ENST00000431016; ENSP00000394617; ENSG00000161217

Database of genes from NCBI RefSeq genomes

More...GeneIDi		5130

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:5130

UCSC genome browser

More...UCSCi		uc003fwf.2 human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

SeattleSNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L28957 mRNA Translation: AAA72127.1
EU280320 Genomic DNA Translation: ABX44666.1
CH471191 Genomic DNA Translation: EAW53655.1
CH471191 Genomic DNA Translation: EAW53662.1
BC046355 mRNA Translation: AAH46355.1
CCDSiCCDS3315.1
PIRiS50145
RefSeqiNP_001299602.1, NM_001312673.1
NP_005008.2, NM_005017.3

3D structure databases

SMRiP49585
ModBaseiSearch...

Protein-protein interaction databases

BioGridi111157, 15 interactors
IntActiP49585, 31 interactors
STRINGi9606.ENSP00000292823

Chemistry databases

ChEMBLiCHEMBL4105855
DrugBankiDB00122 Choline
DB14006 Choline salicylate
DB00709 Lamivudine

PTM databases

iPTMnetiP49585
PhosphoSitePlusiP49585

Polymorphism and mutation databases

BioMutaiPCYT1A
DMDMi166214967

Proteomic databases

EPDiP49585
jPOSTiP49585
MassIVEiP49585
MaxQBiP49585
PaxDbiP49585
PeptideAtlasiP49585
PRIDEiP49585
ProteomicsDBi56021

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		5130

Genome annotation databases

EnsembliENST00000292823; ENSP00000292823; ENSG00000161217
ENST00000431016; ENSP00000394617; ENSG00000161217
GeneIDi5130
KEGGihsa:5130
UCSCiuc003fwf.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		5130
DisGeNETi5130

GeneCards: human genes, protein and diseases

More...GeneCardsi		PCYT1A
HGNCiHGNC:8754 PCYT1A
HPAiHPA035428
MalaCardsiPCYT1A
MIMi123695 gene
608940 phenotype
neXtProtiNX_P49585
OpenTargetsiENSG00000161217
Orphaneti65 Leber congenital amaurosis
85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
PharmGKBiPA33099

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2804 Eukaryota
COG0615 LUCA
GeneTreeiENSGT00940000157384
HOGENOMiHOG000230945
InParanoidiP49585
KOiK00968
OrthoDBi1172502at2759
PhylomeDBiP49585
TreeFamiTF106336

Enzyme and pathway databases

UniPathwayiUPA00753;UER00739
BioCyciMetaCyc:HS08577-MONOMER
ReactomeiR-HSA-1483191 Synthesis of PC
SIGNORiP49585

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		PCYT1A human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PCYT1A

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		5130
PharosiP49585
PMAP-CutDBiP49585

Protein Ontology

More...PROi		PR:P49585

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000161217 Expressed in 209 organ(s), highest expression level in tendon
ExpressionAtlasiP49585 baseline and differential
GenevisibleiP49585 HS

Family and domain databases

CDDicd02174 CCT, 1 hit
Gene3Di3.40.50.620, 1 hit
InterProiView protein in InterPro
IPR041723 CCT
IPR004821 Cyt_trans-like
IPR014729 Rossmann-like_a/b/a_fold
PfamiView protein in Pfam
PF01467 CTP_transf_like, 1 hit
TIGRFAMsiTIGR00125 cyt_tran_rel, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPCY1A_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P49585
Secondary accession number(s): A9LYK9, D3DXB1, Q86Y88
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: January 15, 2008
Last modified: September 18, 2019
This is version 175 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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