Home |
Help |
Advanced search
2024-04-25 13:30:49, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001163265 5239 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens phosphate cytidylyltransferase 1, choline, beta
(PCYT1B), transcript variant 3, mRNA.
ACCESSION NM_001163265
VERSION NM_001163265.1 GI:253795515
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 5239)
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 5239)
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 5239)
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 5239)
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 5239)
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 5239)
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 5239)
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 5239)
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 AK315323.1, AF052510.1,
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 (3) is alternatively spliced at
the 3' end compared to variant 1, resulting in a frameshift and a
shorter isoform (3) with a distinct C-terminus compared to isoform
1.
##Evidence-Data-START##
Transcript exon combination :: AF052510.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025082 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-1193 AK315323.1 1-1193
1194-1469 AF052510.1 1021-1296
1470-3157 AK226121.1 1738-3425
3158-3836 BC045634.1 3241-3919
3837-3869 AK226121.1 4105-4137
3870-5223 AK226121.1 4142-5495
5224-5239 BC045634.1 5314-5329
FEATURES Location/Qualifiers
source 1..5239
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="X"
/map="Xp22.11"
gene 1..5239
/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..350
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/inference="alignment:Splign:1.39.8"
variation 74..75
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace=""
/replace="g"
/db_xref="dbSNP:61760927"
STS 175..245
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/standard_name="Pcyt1b"
/db_xref="UniSTS:470563"
misc_feature 213..215
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/note="upstream in-frame stop codon"
CDS 234..1226
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/EC_number="2.7.7.15"
/note="isoform 3 is encoded by transcript variant 3;
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
3"
/protein_id="NP_001156737.1"
/db_xref="GI:253795516"
/db_xref="CCDS:CCDS55391.1"
/db_xref="GeneID:9468"
/db_xref="HGNC:8755"
/db_xref="MIM:604926"
/translation="
MPVVTTDAESETGIPKSLSNEPPSETMEEIEHTCPQPRLTLTAPAPFADETNCQCQAPHEKLTIAQARLGTPADRPVRVYADGIFDLFHSGHARALMQAKTLFPNSYLLVGVCSDDLTHKFKGFTVMNEAERYEALRHCRYVDEVIRDAPWTLTPEFLEKHKIDFVAHDDIPYSSAGSDDVYKHIKEAGMFVPTQRTEGISTSDIITRIVRDYDVYARRNLQRGYTAKELNVSFINEKRYRFQNQVDKMKEKVKNVEERSKEFVNRVEEKSHDLIQKWEEKSREFIGNFLELFGPDGAWKQMFQERSSRMLQALSPKQSPLKSWARCRDF
"
misc_feature 456..905
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/note="CTP:phosphocholine cytidylyltransferase; Region:
CCT; cd02174"
/db_xref="CDD:173925"
misc_feature 471..857
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/note="Cytidylyltransferase; Region: CTP_transf_2;
pfam01467"
/db_xref="CDD:201811"
misc_feature order(477..488,498..500,504..509,516..518,570..572,
597..599,681..686,735..740,777..779,816..824,831..833)
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/note="active site"
/db_xref="CDD:173925"
misc_feature 498..509
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/note="(T/H)XGH motif; other site"
/db_xref="CDD:173925"
misc_feature 1176..1178
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q9Y5K3.1); phosphorylation site"
misc_feature 1188..1190
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q9Y5K3.1); phosphorylation site"
exon 351..450
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/inference="alignment:Splign:1.39.8"
exon 451..567
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/inference="alignment:Splign:1.39.8"
exon 568..719
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/inference="alignment:Splign:1.39.8"
exon 720..798
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/inference="alignment:Splign:1.39.8"
exon 799..941
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/inference="alignment:Splign:1.39.8"
exon 942..1130
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/inference="alignment:Splign:1.39.8"
STS 952..1130
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/standard_name="RH103442"
/db_xref="UniSTS:97767"
exon 1131..1193
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/inference="alignment:Splign:1.39.8"
variation 1170
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="g"
/replace="t"
/db_xref="dbSNP:1133910"
exon 1194..5224
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/inference="alignment:Splign:1.39.8"
variation 1349
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="c"
/replace="t"
/db_xref="dbSNP:3196061"
variation 1350
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="c"
/replace="t"
/db_xref="dbSNP:3196062"
polyA_signal 1451..1456
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
polyA_site 1469
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
variation 1541
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="c"
/replace="t"
/db_xref="dbSNP:61762693"
variation 2303
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="c"
/replace="t"
/db_xref="dbSNP:61762696"
variation 2877
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="a"
/replace="t"
/db_xref="dbSNP:3761610"
variation 3021
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="c"
/replace="t"
/db_xref="dbSNP:61762697"
variation 3034
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="a"
/replace="g"
/db_xref="dbSNP:61756160"
variation 3122
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="c"
/replace="t"
/db_xref="dbSNP:3761611"
variation 3158
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="a"
/replace="g"
/db_xref="dbSNP:3761612"
variation 3201
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="c"
/replace="t"
/db_xref="dbSNP:61756161"
variation 3342
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="a"
/replace="g"
/db_xref="dbSNP:61756162"
variation 3519
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="c"
/replace="g"
/db_xref="dbSNP:61756163"
variation 3723
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="g"
/replace="t"
/db_xref="dbSNP:61756164"
variation 3832
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="c"
/replace="t"
/db_xref="dbSNP:61756165"
variation 3834
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="c"
/replace="t"
/db_xref="dbSNP:61756166"
variation 3837
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="a"
/replace="t"
/db_xref="dbSNP:2178608"
variation 4445
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
/replace="a"
/replace="c"
/db_xref="dbSNP:61756167"
polyA_signal 5203..5208
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
polyA_site 5224
/gene="PCYT1B"
/gene_synonym="CCTB; CTB"
ORIGIN
tggttgttatagtgataaactgaggccttgcctcttggcttctgggagagagagagagagagaggggcggggggtaacctctttacttcccctagggaagacagaaagaaggggagaagaagcggggggatgggtggagggtagaggggagaaaaatacgtgacaaagaaaacattctctgcctgggaggagactctctgagggtgtagagctagagggagcattcactggccatgccagtagttaccactgatgctgagtcagaaacaggtatcccaaaatccctttccaatgagcctccctcagaaaccatggaggaaatagagcacacatgcccacagcctcgactgaccctgactgcacctgccccatttgctgatgaaaccaactgccagtgtcaagcaccccatgaaaaactgaccattgctcaggcccgcttaggaacaccagctgacaggcctgtcagagtatacgccgatggaatatttgacctcttccactcaggtcatgcaagagcccttatgcaagcaaaaacactgtttcccaacagctacttgttggtaggagtttgcagtgatgatctcacccacaaattcaaaggtttcaccgtgatgaatgaagccgagagatacgaagctctcagacactgtcgctacgtagacgaagttatcagagatgctccctggacactcacgccagagtttctggaaaaacacaagattgactttgtggctcatgatgacattccgtattcctctgctggctctgatgatgtttacaagcacataaaggaagcagggatgttcgttccaacgcagagaacagaaggcatctcaacatcggacatcattaccagaattgttcgtgactatgatgtttatgcccgacgtaacctccagagagggtatacagccaaggaactgaatgtcagctttataaatgagaagaggtaccgtttccagaaccaagtggacaaaatgaaggaaaaagtcaagaatgtggaggaaagatcaaaggaatttgtgaacagagtggaagaaaagagccatgatctaattcaaaagtgggaagagaagtcaagggaattcattggcaacttcctagaactgtttggacctgatggagcatggaagcagatgttccaggagaggagcagccggatgctgcaggccttatccccgaagcagagccctctgaagagttgggcgaggtgcagagacttctagctggacaacctacacaaaccttagcgtctagagtcactctaaccttgctaaggaaggatgcagagttccctagagagacttgcactgatggggtgacttctgctttggtccttccaccacccccaccaagtaaaccacctgtggcagcggctgttccctcaacctgctacttctgcgtccataagggtcctgcacgttgcctcccaccaccccagctctgccagaataaaattgtttccaatagaggtggcaaagtgcttctgaaatagtcgagaaaaagacagattccaacctcctcagtccagccactgagacctgatgttggaacgcatcagctccttccagttccatgaatgtggctcatagacaaagccttgctttaggctggttataaaaggtcatctagtgtgaaccttaactttttattcaaaggacagttttgtcaagaactccacgtaaggcctgatgtgctcctggttgtactttctcatcactggtttgacttcattgttttgcagaaattaccttaatccgtgggaactgcaacaaagaaaaacttcctaatatataaaaaagaggagctgctttgctttgcctccaggtttagcggacaagaaatgtctcctgaagcttctccttaaaggatgctattatggaatggcttttcccatttctgaccagttaacagtttcatagacctcaagtaacagtttgaggtatcaaacatagtataccaatagggggtgctacctgcacgtatctgttctatatatgctccaatatgtcatccccgggtgtatcccatgtgcaatatgagtatatagtggtggcattttataatagaccccactcctgcgctccaccataatactcctctgaaatccttggtctcaagaaacatctgttctcttgtgacttgggcactttgtcaagcttattccagattcctgtggaaacgttttatcccaaccaggaaattagtattttgttctcgtggcctcctataacatttttgggtgaaggagaactcaagactttttacagagaactgtgggctcagttatgatctcagcatctgaatggtctaggtagtatcaccattatctctggccctaggtttgccaagtaggatgaagactctaagtgttcctgctgagttgtccaaaggtcctgctccttagtcacctgtgcgaaatgagcagggagagttaaggcatagaaccaaactctttgggttattgtatgggtatgccagtaaattcagacacagagctggggtctgactgaatagaggcccaaaccagcaacttgtaggcagagcccagaatctcttgtgatagaaataccccttttcagaggccttgggaaccagccttctaggtgacaaggggacaaccagtgaaggaaggcggcatgtctttccccttcttgttggggttgaactacctccctatccacttggagatgagtgctgtctgctgtgaagcaaaactatgaggctgagctggcttggaacctctttgttcttggcactttccttctccaggactctgggaagcactcatatgggacagagggctggcaggaacatggcatgtgaagaagaaaacttctttttgcagtcaagggccacccagaatattgctcttcagagagggacaagggcctcattcttccatttggtctctgtcttccatcatgcactcaggtcaagccatgcaagtctgcctaccatttgagttagttggcacttgtagcagtgaaggatgaggccagccaggcaagggaaggtggcgggaacaagggaagagaaaaggaggaaagaagttcctggagggaggaaaggaggataaagaaaatctgctctcataaaaccatttcaggacctcactttacaggtgagactctcttgggaaggcctttgtgcccctgctccatggcccagggcagatagattcacttttacctgaatcttatactctggagcaaatagtgtatcaggctgactatacatttgcaggccttacacgccatactgacaggtgccacttacgtgactcatcagataatgtcaccattgctgccaattatgggaaataactaatgcctattccagggatgagcccaaaccacacataaatgggttctaaatctcaccctcctaacctgcagtgagtccccccgttccaccctcttgaggctgcaaatctactgagaaggaatgggaaggattctacaacccaacttttgatactttttggccatctctcagtctctcccagcccctacccccacaccacctccctgctcccaggcagagaccgggttgcactttgttagggccagcaggtcaactgtaatggccaagagtgagttaaggctggaatgagaaatatgccccaagcttggaggggtaagcaggaataacacaaagcaaggaaagagattctttttgccctagtgaggaaaggaagcttcagaatgagggctggaggatagcaacttaggactgcagaagggggcagcttatgaagatgggagaaagtgggactgaagttgtaggggagcaggagggtagtgattttccgcttttctttctttctttcttttactttctttctctttctttctctctctctctctttctttttctttcttctttctctttttctttcctctttttctttctttctttttctttctctttcttccttctttctttcattcttctttgttctttcttctttctttctttttttttttttttgagatggagttttgctcttgttgctcaggctggagtgcaatggcacaatctcggctcactgcagcctccacctcccaggttcaaggggttcttctgcctcagcctcccaagtagctgggattacaggtgcctgccacgacacccagctaatttttgtatgtttagtagagacggggtttcaccatgttggccaggctggtctcaaattcctgacctcaggtgattctcccgcctcggcctcccaaagtgctgggattatgagcacgagccacggcgtccagccgattttccgctccctttcaagtgttaactcaccccctgacaggtgaagagggaagggttccttttacgcacaaccaaggttagcaaatgcccatgcaggatatggggtccctgcctctctggttgcttcatttcagcacttctatattagctgcttatggggaccctaaaatgaactggtcacccctccaccagctaagaaacaagggtgggattgctgtgccataagtcacactgaacgacttgcttctggcaagcatgctcctgtgtgtcaggaccttaccaaggcaaagaaatgccaggctcaagaggagcaggacgtgagacattggcctggcttctaacctggtctgagtggaagagacacagcttagggatttcagttttgctcttaggctactagatactgttatttcaccccctgagggagggacaggaagagcacggatttattttctctccgtcttcagtacttattttagcatctagtcataccccagggagagatgcgagacggtgtcactggctcagctgaagcagatgagcccgtctctagcagagatgtgcctgtttcttaggcatccgttcagcactagtcttggccatcagatttttaaaaaagaaatagctcatgaggcatttgcaacttctcctctctagacttctttctagttttcctctgttgtgtcactgcgatgtgtccagggacaaagccataagtagagcatacatacttaagactatgctgtacatataagacaagacctgtctgggttaaagcacgaccttatgcccaagcatttactctggtgctgaataacgcgaactactggaatcagcctcccccaactctgcgcgccccctgcccccctgctcctatcccattcttgctctcaaatggaccacaccattctcaactcgtttataaataaagggatgcagaattgcaaaaaaaaaaaaaaaa
//
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_001156737 -> EC 2.7.7.15
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.