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2024-04-20 05:20:52, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001163264 5507 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens phosphate cytidylyltransferase 1, choline, beta
(PCYT1B), transcript variant 2, mRNA.
ACCESSION NM_001163264
VERSION NM_001163264.1 GI:253795513
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 5507)
AUTHORS Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
CONSRTM DREAM investigators
TITLE Variation at the NFATC2 locus increases the risk of
thiazolidinedione-induced edema in the Diabetes REduction
Assessment with ramipril and rosiglitazone Medication (DREAM) study
JOURNAL Diabetes Care 33 (10), 2250-2253 (2010)
PUBMED 20628086
REMARK GeneRIF: Observational study of gene-disease association,
gene-environment interaction, and pharmacogenomic / toxicogenomic.
(HuGE Navigator)
REFERENCE 2 (bases 1 to 5507)
AUTHORS Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
CONSRTM ASCOT investigators; NORDIL investigators; BRIGHT Consortium
TITLE Gene-centric association signals for lipids and apolipoproteins
identified via the HumanCVD BeadChip
JOURNAL Am. J. Hum. Genet. 85 (5), 628-642 (2009)
PUBMED 19913121
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 3 (bases 1 to 5507)
AUTHORS Priyadarshini, Singh,S.K. and Tandon,C.
TITLE Mass spectrometric identification of human phosphate
cytidylyltransferase 1 as a novel calcium oxalate crystal growth
inhibitor purified from human renal stone matrix
JOURNAL Clin. Chim. Acta 408 (1-2), 34-38 (2009)
PUBMED 19595683
REMARK GeneRIF: Human phosphate cytidylyltransferase 1, choline, beta is a
novel CaOx crystal growth inhibitor.
REFERENCE 4 (bases 1 to 5507)
AUTHORS Ballif,B.A., Villen,J., Beausoleil,S.A., Schwartz,D. and Gygi,S.P.
TITLE Phosphoproteomic analysis of the developing mouse brain
JOURNAL Mol. Cell Proteomics 3 (11), 1093-1101 (2004)
PUBMED 15345747
REFERENCE 5 (bases 1 to 5507)
AUTHORS Llorca,O., Martin-Benito,J., Gomez-Puertas,P., Ritco-Vonsovici,M.,
Willison,K.R., Carrascosa,J.L. and Valpuesta,J.M.
TITLE Analysis of the interaction between the eukaryotic chaperonin CCT
and its substrates actin and tubulin
JOURNAL J. Struct. Biol. 135 (2), 205-218 (2001)
PUBMED 11580270
REFERENCE 6 (bases 1 to 5507)
AUTHORS Lykidis,A., Baburina,I. and Jackowski,S.
TITLE Distribution of CTP:phosphocholine cytidylyltransferase (CCT)
isoforms. Identification of a new CCTbeta splice variant
JOURNAL J. Biol. Chem. 274 (38), 26992-27001 (1999)
PUBMED 10480912
REFERENCE 7 (bases 1 to 5507)
AUTHORS Gubin,A.N., Njoroge,J.M., Bouffard,G.G. and Miller,J.L.
TITLE Gene expression in proliferating human erythroid cells
JOURNAL Genomics 59 (2), 168-177 (1999)
PUBMED 10409428
REFERENCE 8 (bases 1 to 5507)
AUTHORS Lykidis,A., Murti,K.G. and Jackowski,S.
TITLE Cloning and characterization of a second human CTP:phosphocholine
cytidylyltransferase
JOURNAL J. Biol. Chem. 273 (22), 14022-14029 (1998)
PUBMED 9593753
REMARK Erratum:[J Biol Chem 1998 Jul 24;273(30):19357]
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AK226121.1 and BC045634.1.
Summary: 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].
Transcript Variant: This variant (2) contains an alternate 5'
terminal exon compared to variant 1. This results in the use of a
different start codon, and a shorter isoform (2) with a distinct
N-terminus compared to isoform 1.
##Evidence-Data-START##
Transcript exon combination :: AK226121.1, AK296333.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025082, ERS025084 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-3425 AK226121.1 1-3425
3426-4104 BC045634.1 3241-3919
4105-4137 AK226121.1 4105-4137
4138-5491 AK226121.1 4142-5495
5492-5507 BC045634.1 5314-5329
FEATURES Location/Qualifiers
source 1..5507
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="X"
/map="Xp22.11"
gene 1..5507
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/note="phosphate cytidylyltransferase 1, choline, beta"
/db_xref="GeneID:9468"
/db_xref="HGNC:8755"
/db_xref="MIM:604926"
exon 1..293
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/inference="alignment:Splign:1.39.8"
misc_feature 192..194
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/note="upstream in-frame stop codon"
CDS 231..1286
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/EC_number="2.7.7.15"
/note="isoform 2 is encoded by transcript variant 2;
CTP:phosphocholine cytidylyltransferase b; CCT-beta;
phosphorylcholine transferase B; choline-phosphate
cytidylyltransferase B; CT B; CCT B"
/codon_start=1
/product="choline-phosphate cytidylyltransferase B isoform
2"
/protein_id="NP_001156736.1"
/db_xref="GI:253795514"
/db_xref="CCDS:CCDS55392.1"
/db_xref="GeneID:9468"
/db_xref="HGNC:8755"
/db_xref="MIM:604926"
/translation="
MVGHQECIMEEDNRAPQLWRKTLTAPAPFADETNCQCQAPHEKLTIAQARLGTPADRPVRVYADGIFDLFHSGHARALMQAKTLFPNSYLLVGVCSDDLTHKFKGFTVMNEAERYEALRHCRYVDEVIRDAPWTLTPEFLEKHKIDFVAHDDIPYSSAGSDDVYKHIKEAGMFVPTQRTEGISTSDIITRIVRDYDVYARRNLQRGYTAKELNVSFINEKRYRFQNQVDKMKEKVKNVEERSKEFVNRVEEKSHDLIQKWEEKSREFIGNFLELFGPDGAWKQMFQERSSRMLQALSPKQSPVSSPTRSRSPSRSPSPTFSWLPLKTSPPSSPKAASASISSMSEGDEDEK
"
misc_feature 399..848
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/note="CTP:phosphocholine cytidylyltransferase; Region:
CCT; cd02174"
/db_xref="CDD:173925"
misc_feature 414..800
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/note="Cytidylyltransferase; Region: CTP_transf_2;
pfam01467"
/db_xref="CDD:201811"
misc_feature order(420..431,441..443,447..452,459..461,513..515,
540..542,624..629,678..683,720..722,759..767,774..776)
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/note="active site"
/db_xref="CDD:173925"
misc_feature 441..452
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/note="(T/H)XGH motif; other site"
/db_xref="CDD:173925"
exon 294..393
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/inference="alignment:Splign:1.39.8"
exon 394..510
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/inference="alignment:Splign:1.39.8"
exon 511..662
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/inference="alignment:Splign:1.39.8"
exon 663..741
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/inference="alignment:Splign:1.39.8"
exon 742..884
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/inference="alignment:Splign:1.39.8"
exon 885..1073
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/inference="alignment:Splign:1.39.8"
STS 895..1073
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/standard_name="RH103442"
/db_xref="UniSTS:97767"
exon 1074..5492
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/inference="alignment:Splign:1.39.8"
variation 1113
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="g"
/replace="t"
/db_xref="dbSNP:1133910"
variation 1455
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="c"
/replace="t"
/db_xref="dbSNP:61762692"
variation 1617
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="c"
/replace="t"
/db_xref="dbSNP:3196061"
variation 1618
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="c"
/replace="t"
/db_xref="dbSNP:3196062"
polyA_signal 1719..1724
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
polyA_site 1737
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
variation 1809
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="c"
/replace="t"
/db_xref="dbSNP:61762693"
variation 2571
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="c"
/replace="t"
/db_xref="dbSNP:61762696"
variation 3145
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="a"
/replace="t"
/db_xref="dbSNP:3761610"
variation 3289
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="c"
/replace="t"
/db_xref="dbSNP:61762697"
variation 3302
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="a"
/replace="g"
/db_xref="dbSNP:61756160"
variation 3390
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="c"
/replace="t"
/db_xref="dbSNP:3761611"
variation 3426
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="a"
/replace="g"
/db_xref="dbSNP:3761612"
variation 3469
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="c"
/replace="t"
/db_xref="dbSNP:61756161"
variation 3610
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="a"
/replace="g"
/db_xref="dbSNP:61756162"
variation 3787
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="c"
/replace="g"
/db_xref="dbSNP:61756163"
variation 3991
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="g"
/replace="t"
/db_xref="dbSNP:61756164"
variation 4100
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="c"
/replace="t"
/db_xref="dbSNP:61756165"
variation 4102
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="c"
/replace="t"
/db_xref="dbSNP:61756166"
variation 4105
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="a"
/replace="t"
/db_xref="dbSNP:2178608"
variation 4713
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="a"
/replace="c"
/db_xref="dbSNP:61756167"
polyA_signal 5471..5476
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
polyA_site 5492
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
ORIGIN
ggggacaagaggaggcttgtggtaagtaaagcaagagtgcctagcaactcaaatctctccttattcaacaactgggacactccgagctcctccgagcttatctttgagcgctgggcacagagagcctgcttgacctttggtcaagtgagcaacaaaaatttcatcctgtgactcaaaagaactccaaagggtagaggcctctagagaagataaaaagatcaggagcaggcatggtaggccatcaggagtgcatcatggaagaggacaatcgcgctccccaattgtggcgcaagaccctgactgcacctgccccatttgctgatgaaaccaactgccagtgtcaagcaccccatgaaaaactgaccattgctcaggcccgcttaggaacaccagctgacaggcctgtcagagtatacgccgatggaatatttgacctcttccactcaggtcatgcaagagcccttatgcaagcaaaaacactgtttcccaacagctacttgttggtaggagtttgcagtgatgatctcacccacaaattcaaaggtttcaccgtgatgaatgaagccgagagatacgaagctctcagacactgtcgctacgtagacgaagttatcagagatgctccctggacactcacgccagagtttctggaaaaacacaagattgactttgtggctcatgatgacattccgtattcctctgctggctctgatgatgtttacaagcacataaaggaagcagggatgttcgttccaacgcagagaacagaaggcatctcaacatcggacatcattaccagaattgttcgtgactatgatgtttatgcccgacgtaacctccagagagggtatacagccaaggaactgaatgtcagctttataaatgagaagaggtaccgtttccagaaccaagtggacaaaatgaaggaaaaagtcaagaatgtggaggaaagatcaaaggaatttgtgaacagagtggaagaaaagagccatgatctaattcaaaagtgggaagagaagtcaagggaattcattggcaacttcctagaactgtttggacctgatggagcatggaagcagatgttccaggagaggagcagccggatgctgcaggccttatccccgaagcagagccctgtgagcagcccaacccggagccggtccccttcccgctccccatcgcccaccttctcatggcttccactcaaaacctcacccccttcctcacccaaagcagcctcagcctctatcagcagcatgagcgagggggatgaggatgaaaagtagaggctgctgggaggcaagagccgcaccatgcaggatggggaggagggcgagagtcacagggttgcctgggtggtgtttgaagggtaatagtcacaggagctgcagctcagcagagagaccctgaactctgctaagggaaggtcttgggaccagttctctctcactctccgtacagctgaagagttgggcgaggtgcagagacttctagctggacaacctacacaaaccttagcgtctagagtcactctaaccttgctaaggaaggatgcagagttccctagagagacttgcactgatggggtgacttctgctttggtccttccaccacccccaccaagtaaaccacctgtggcagcggctgttccctcaacctgctacttctgcgtccataagggtcctgcacgttgcctcccaccaccccagctctgccagaataaaattgtttccaatagaggtggcaaagtgcttctgaaatagtcgagaaaaagacagattccaacctcctcagtccagccactgagacctgatgttggaacgcatcagctccttccagttccatgaatgtggctcatagacaaagccttgctttaggctggttataaaaggtcatctagtgtgaaccttaactttttattcaaaggacagttttgtcaagaactccacgtaaggcctgatgtgctcctggttgtactttctcatcactggtttgacttcattgttttgcagaaattaccttaatccgtgggaactgcaacaaagaaaaacttcctaatatataaaaaagaggagctgctttgctttgcctccaggtttagcggacaagaaatgtctcctgaagcttctccttaaaggatgctattatggaatggcttttcccatttctgaccagttaacagtttcatagacctcaagtaacagtttgaggtatcaaacatagtataccaatagggggtgctacctgcacgtatctgttctatatatgctccaatatgtcatccccgggtgtatcccatgtgcaatatgagtatatagtggtggcattttataatagaccccactcctgcgctccaccataatactcctctgaaatccttggtctcaagaaacatctgttctcttgtgacttgggcactttgtcaagcttattccagattcctgtggaaacgttttatcccaaccaggaaattagtattttgttctcgtggcctcctataacatttttgggtgaaggagaactcaagactttttacagagaactgtgggctcagttatgatctcagcatctgaatggtctaggtagtatcaccattatctctggccctaggtttgccaagtaggatgaagactctaagtgttcctgctgagttgtccaaaggtcctgctccttagtcacctgtgcgaaatgagcagggagagttaaggcatagaaccaaactctttgggttattgtatgggtatgccagtaaattcagacacagagctggggtctgactgaatagaggcccaaaccagcaacttgtaggcagagcccagaatctcttgtgatagaaataccccttttcagaggccttgggaaccagccttctaggtgacaaggggacaaccagtgaaggaaggcggcatgtctttccccttcttgttggggttgaactacctccctatccacttggagatgagtgctgtctgctgtgaagcaaaactatgaggctgagctggcttggaacctctttgttcttggcactttccttctccaggactctgggaagcactcatatgggacagagggctggcaggaacatggcatgtgaagaagaaaacttctttttgcagtcaagggccacccagaatattgctcttcagagagggacaagggcctcattcttccatttggtctctgtcttccatcatgcactcaggtcaagccatgcaagtctgcctaccatttgagttagttggcacttgtagcagtgaaggatgaggccagccaggcaagggaaggtggcgggaacaagggaagagaaaaggaggaaagaagttcctggagggaggaaaggaggataaagaaaatctgctctcataaaaccatttcaggacctcactttacaggtgagactctcttgggaaggcctttgtgcccctgctccatggcccagggcagatagattcacttttacctgaatcttatactctggagcaaatagtgtatcaggctgactatacatttgcaggccttacacgccatactgacaggtgccacttacgtgactcatcagataatgtcaccattgctgccaattatgggaaataactaatgcctattccagggatgagcccaaaccacacataaatgggttctaaatctcaccctcctaacctgcagtgagtccccccgttccaccctcttgaggctgcaaatctactgagaaggaatgggaaggattctacaacccaacttttgatactttttggccatctctcagtctctcccagcccctacccccacaccacctccctgctcccaggcagagaccgggttgcactttgttagggccagcaggtcaactgtaatggccaagagtgagttaaggctggaatgagaaatatgccccaagcttggaggggtaagcaggaataacacaaagcaaggaaagagattctttttgccctagtgaggaaaggaagcttcagaatgagggctggaggatagcaacttaggactgcagaagggggcagcttatgaagatgggagaaagtgggactgaagttgtaggggagcaggagggtagtgattttccgcttttctttctttctttcttttactttctttctctttctttctctctctctctctttctttttctttcttctttctctttttctttcctctttttctttctttctttttctttctctttcttccttctttctttcattcttctttgttctttcttctttctttctttttttttttttttgagatggagttttgctcttgttgctcaggctggagtgcaatggcacaatctcggctcactgcagcctccacctcccaggttcaaggggttcttctgcctcagcctcccaagtagctgggattacaggtgcctgccacgacacccagctaatttttgtatgtttagtagagacggggtttcaccatgttggccaggctggtctcaaattcctgacctcaggtgattctcccgcctcggcctcccaaagtgctgggattatgagcacgagccacggcgtccagccgattttccgctccctttcaagtgttaactcaccccctgacaggtgaagagggaagggttccttttacgcacaaccaaggttagcaaatgcccatgcaggatatggggtccctgcctctctggttgcttcatttcagcacttctatattagctgcttatggggaccctaaaatgaactggtcacccctccaccagctaagaaacaagggtgggattgctgtgccataagtcacactgaacgacttgcttctggcaagcatgctcctgtgtgtcaggaccttaccaaggcaaagaaatgccaggctcaagaggagcaggacgtgagacattggcctggcttctaacctggtctgagtggaagagacacagcttagggatttcagttttgctcttaggctactagatactgttatttcaccccctgagggagggacaggaagagcacggatttattttctctccgtcttcagtacttattttagcatctagtcataccccagggagagatgcgagacggtgtcactggctcagctgaagcagatgagcccgtctctagcagagatgtgcctgtttcttaggcatccgttcagcactagtcttggccatcagatttttaaaaaagaaatagctcatgaggcatttgcaacttctcctctctagacttctttctagttttcctctgttgtgtcactgcgatgtgtccagggacaaagccataagtagagcatacatacttaagactatgctgtacatataagacaagacctgtctgggttaaagcacgaccttatgcccaagcatttactctggtgctgaataacgcgaactactggaatcagcctcccccaactctgcgcgccccctgcccccctgctcctatcccattcttgctctcaaatggaccacaccattctcaactcgtttataaataaagggatgcagaattgcaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:9468 -> Molecular function: GO:0004105 [choline-phosphate cytidylyltransferase activity] evidence: IEA
GeneID:9468 -> Biological process: GO:0001541 [ovarian follicle development] evidence: IEA
GeneID:9468 -> Biological process: GO:0006644 [phospholipid metabolic process] evidence: TAS
GeneID:9468 -> Biological process: GO:0006656 [phosphatidylcholine biosynthetic process] evidence: TAS
GeneID:9468 -> Biological process: GO:0006657 [CDP-choline pathway] evidence: TAS
GeneID:9468 -> Biological process: GO:0007283 [spermatogenesis] evidence: IEA
GeneID:9468 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
GeneID:9468 -> Biological process: GO:0046474 [glycerophospholipid biosynthetic process] evidence: TAS
GeneID:9468 -> Cellular component: GO:0005737 [cytoplasm] evidence: TAS
GeneID:9468 -> Cellular component: GO:0005789 [endoplasmic reticulum membrane] evidence: TAS
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_001156736 -> EC 2.7.7.15
by
@meso_cacase at
DBCLS
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