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2024-04-25 05:31:53, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_002623 1383 bp mRNA linear PRI 16-JUN-2013
DEFINITION Homo sapiens prefoldin subunit 4 (PFDN4), mRNA.
ACCESSION NM_002623
VERSION NM_002623.3 GI:54792079
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 1383)
AUTHORS Hirota,T., Takahashi,A., Kubo,M., Tsunoda,T., Tomita,K.,
Sakashita,M., Yamada,T., Fujieda,S., Tanaka,S., Doi,S.,
Miyatake,A., Enomoto,T., Nishiyama,C., Nakano,N., Maeda,K.,
Okumura,K., Ogawa,H., Ikeda,S., Noguchi,E., Sakamoto,T., Hizawa,N.,
Ebe,K., Saeki,H., Sasaki,T., Ebihara,T., Amagai,M., Takeuchi,S.,
Furue,M., Nakamura,Y. and Tamari,M.
TITLE Genome-wide association study identifies eight new susceptibility
loci for atopic dermatitis in the Japanese population
JOURNAL Nat. Genet. 44 (11), 1222-1226 (2012)
PUBMED 23042114
REFERENCE 2 (bases 1 to 1383)
AUTHORS Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
Gibbs,R.A. and Butte,N.F.
TITLE Novel genetic loci identified for the pathophysiology of childhood
obesity in the Hispanic population
JOURNAL PLoS ONE 7 (12), E51954 (2012)
PUBMED 23251661
REFERENCE 3 (bases 1 to 1383)
AUTHORS Miyoshi,N., Ishii,H., Mimori,K., Nishida,N., Tokuoka,M., Akita,H.,
Sekimoto,M., Doki,Y. and Mori,M.
TITLE Abnormal expression of PFDN4 in colorectal cancer: a novel marker
for prognosis
JOURNAL Ann. Surg. Oncol. 17 (11), 3030-3036 (2010)
PUBMED 20552408
REMARK GeneRIF: PFDN4 inhibition resulted in an increase in cell growth
and invasiveness in colorectal cancer cell lines.
REFERENCE 4 (bases 1 to 1383)
AUTHORS Djouder,N., Metzler,S.C., Schmidt,A., Wirbelauer,C., Gstaiger,M.,
Aebersold,R., Hess,D. and Krek,W.
TITLE S6K1-mediated disassembly of mitochondrial URI/PP1gamma complexes
activates a negative feedback program that counters S6K1 survival
signaling
JOURNAL Mol. Cell 28 (1), 28-40 (2007)
PUBMED 17936702
REFERENCE 5 (bases 1 to 1383)
AUTHORS Simons,C.T., Staes,A., Rommelaere,H., Ampe,C., Lewis,S.A. and
Cowan,N.J.
TITLE Selective contribution of eukaryotic prefoldin subunits to actin
and tubulin binding
JOURNAL J. Biol. Chem. 279 (6), 4196-4203 (2004)
PUBMED 14634002
REFERENCE 6 (bases 1 to 1383)
AUTHORS Deloukas,P., Matthews,L.H., Ashurst,J., Burton,J., Gilbert,J.G.,
Jones,M., Stavrides,G., Almeida,J.P., Babbage,A.K., Bagguley,C.L.,
Bailey,J., Barlow,K.F., Bates,K.N., Beard,L.M., Beare,D.M.,
Beasley,O.P., Bird,C.P., Blakey,S.E., Bridgeman,A.M., Brown,A.J.,
Buck,D., Burrill,W., Butler,A.P., Carder,C., Carter,N.P.,
Chapman,J.C., Clamp,M., Clark,G., Clark,L.N., Clark,S.Y.,
Clee,C.M., Clegg,S., Cobley,V.E., Collier,R.E., Connor,R.,
Corby,N.R., Coulson,A., Coville,G.J., Deadman,R., Dhami,P.,
Dunn,M., Ellington,A.G., Frankland,J.A., Fraser,A., French,L.,
Garner,P., Grafham,D.V., Griffiths,C., Griffiths,M.N., Gwilliam,R.,
Hall,R.E., Hammond,S., Harley,J.L., Heath,P.D., Ho,S., Holden,J.L.,
Howden,P.J., Huckle,E., Hunt,A.R., Hunt,S.E., Jekosch,K.,
Johnson,C.M., Johnson,D., Kay,M.P., Kimberley,A.M., King,A.,
Knights,A., Laird,G.K., Lawlor,S., Lehvaslaiho,M.H., Leversha,M.,
Lloyd,C., Lloyd,D.M., Lovell,J.D., Marsh,V.L., Martin,S.L.,
McConnachie,L.J., McLay,K., McMurray,A.A., Milne,S., Mistry,D.,
Moore,M.J., Mullikin,J.C., Nickerson,T., Oliver,K., Parker,A.,
Patel,R., Pearce,T.A., Peck,A.I., Phillimore,B.J.,
Prathalingam,S.R., Plumb,R.W., Ramsay,H., Rice,C.M., Ross,M.T.,
Scott,C.E., Sehra,H.K., Shownkeen,R., Sims,S., Skuce,C.D.,
Smith,M.L., Soderlund,C., Steward,C.A., Sulston,J.E., Swann,M.,
Sycamore,N., Taylor,R., Tee,L., Thomas,D.W., Thorpe,A., Tracey,A.,
Tromans,A.C., Vaudin,M., Wall,M., Wallis,J.M., Whitehead,S.L.,
Whittaker,P., Willey,D.L., Williams,L., Williams,S.A., Wilming,L.,
Wray,P.W., Hubbard,T., Durbin,R.M., Bentley,D.R., Beck,S. and
Rogers,J.
TITLE The DNA sequence and comparative analysis of human chromosome 20
JOURNAL Nature 414 (6866), 865-871 (2001)
PUBMED 11780052
REFERENCE 7 (bases 1 to 1383)
AUTHORS Cowan,N.J. and Lewis,S.A.
TITLE A chaperone with a hydrophilic surface
JOURNAL Nat. Struct. Biol. 6 (11), 990-991 (1999)
PUBMED 10542082
REFERENCE 8 (bases 1 to 1383)
AUTHORS Hansen,W.J., Cowan,N.J. and Welch,W.J.
TITLE Prefoldin-nascent chain complexes in the folding of cytoskeletal
proteins
JOURNAL J. Cell Biol. 145 (2), 265-277 (1999)
PUBMED 10209023
REFERENCE 9 (bases 1 to 1383)
AUTHORS Vainberg,I.E., Lewis,S.A., Rommelaere,H., Ampe,C.,
Vandekerckhove,J., Klein,H.L. and Cowan,N.J.
TITLE Prefoldin, a chaperone that delivers unfolded proteins to cytosolic
chaperonin
JOURNAL Cell 93 (5), 863-873 (1998)
PUBMED 9630229
REFERENCE 10 (bases 1 to 1383)
AUTHORS Iijima,M., Kano,Y., Nohno,T. and Namba,M.
TITLE Cloning of cDNA with possible transcription factor activity at the
G1-S phase transition in human fibroblast cell lines
JOURNAL Acta Med. Okayama 50 (2), 73-77 (1996)
PUBMED 8744932
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from CN482830.1, BC010953.1,
U41816.1 and AL133335.29.
On Oct 28, 2004 this sequence version replaced gi:12408676.
Summary: This gene encodes a member of the prefoldin beta subunit
family. The encoded protein is one of six subunits of prefoldin, a
molecular chaperone complex that binds and stabilizes newly
synthesized polypeptides, thereby allowing them to fold correctly.
The complex, consisting of two alpha and four beta subunits, forms
a double beta barrel assembly with six protruding coiled-coils.
[provided by RefSeq, Jul 2008].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: U41816.1, BM806238.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-124 CN482830.1 1-124
125-590 BC010953.1 5-470
591-605 U41816.1 452-466
606-1329 AL133335.29 41883-42606
1330-1383 U41816.1 1188-1241
FEATURES Location/Qualifiers
source 1..1383
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="20"
/map="20q13.2"
gene 1..1383
/gene="PFDN4"
/gene_synonym="C1; PFD4"
/note="prefoldin subunit 4"
/db_xref="GeneID:5203"
/db_xref="HGNC:8868"
/db_xref="HPRD:05358"
/db_xref="MIM:604898"
exon 1..162
/gene="PFDN4"
/gene_synonym="C1; PFD4"
/inference="alignment:Splign:1.39.8"
misc_feature 124..126
/gene="PFDN4"
/gene_synonym="C1; PFD4"
/note="upstream in-frame stop codon"
CDS 139..543
/gene="PFDN4"
/gene_synonym="C1; PFD4"
/note="prefoldin 4; protein C-1"
/codon_start=1
/product="prefoldin subunit 4"
/protein_id="NP_002614.2"
/db_xref="GI:12408677"
/db_xref="CCDS:CCDS13445.1"
/db_xref="GeneID:5203"
/db_xref="HGNC:8868"
/db_xref="HPRD:05358"
/db_xref="MIM:604898"
/translation="
MAATMKKAAAEDVNVTFEDQQKINKFARNTSRITELKEEIEVKKKQLQNLEDACDDIMLADDDCLMIPYQIGDVFISHSQEETQEMLEEAKKNLQEEIDALESRVESIQRVLADLKVQLYAKFGSNINLEADES
"
misc_feature 196..516
/gene="PFDN4"
/gene_synonym="C1; PFD4"
/note="Prefoldin subunit; Region: Prefoldin_2; pfam01920"
/db_xref="CDD:202045"
misc_feature 511..513
/gene="PFDN4"
/gene_synonym="C1; PFD4"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q9NQP4.1); phosphorylation site"
exon 163..270
/gene="PFDN4"
/gene_synonym="C1; PFD4"
/inference="alignment:Splign:1.39.8"
variation 190
/gene="PFDN4"
/gene_synonym="C1; PFD4"
/replace="c"
/replace="g"
/db_xref="dbSNP:6127140"
STS 207..389
/gene="PFDN4"
/gene_synonym="C1; PFD4"
/standard_name="RH47160"
/db_xref="UniSTS:789"
STS 207..333
/gene="PFDN4"
/gene_synonym="C1; PFD4"
/standard_name="RH47163"
/db_xref="UniSTS:788"
STS 220..377
/gene="PFDN4"
/gene_synonym="C1; PFD4"
/standard_name="SHGC-2608"
/db_xref="UniSTS:34776"
exon 271..411
/gene="PFDN4"
/gene_synonym="C1; PFD4"
/inference="alignment:Splign:1.39.8"
variation 279
/gene="PFDN4"
/gene_synonym="C1; PFD4"
/replace="a"
/replace="c"
/db_xref="dbSNP:376961672"
variation 319
/gene="PFDN4"
/gene_synonym="C1; PFD4"
/replace="c"
/replace="g"
/db_xref="dbSNP:148299643"
variation 327
/gene="PFDN4"
/gene_synonym="C1; PFD4"
/replace="c"
/replace="t"
/db_xref="dbSNP:369214934"
variation 387
/gene="PFDN4"
/gene_synonym="C1; PFD4"
/replace="a"
/replace="g"
/db_xref="dbSNP:76841395"
exon 412..1346
/gene="PFDN4"
/gene_synonym="C1; PFD4"
/inference="alignment:Splign:1.39.8"
variation 435
/gene="PFDN4"
/gene_synonym="C1; PFD4"
/replace="c"
/replace="t"
/db_xref="dbSNP:145690568"
variation 436
/gene="PFDN4"
/gene_synonym="C1; PFD4"
/replace="a"
/replace="g"
/db_xref="dbSNP:368220174"
variation 467
/gene="PFDN4"
/gene_synonym="C1; PFD4"
/replace="a"
/replace="g"
/db_xref="dbSNP:199901569"
variation 539
/gene="PFDN4"
/gene_synonym="C1; PFD4"
/replace="a"
/replace="g"
/db_xref="dbSNP:115409787"
polyA_signal 573..578
/gene="PFDN4"
/gene_synonym="C1; PFD4"
polyA_site 596
/gene="PFDN4"
/gene_synonym="C1; PFD4"
variation 726
/gene="PFDN4"
/gene_synonym="C1; PFD4"
/replace="c"
/replace="t"
/db_xref="dbSNP:143697055"
polyA_signal 785..790
/gene="PFDN4"
/gene_synonym="C1; PFD4"
polyA_site 810
/gene="PFDN4"
/gene_synonym="C1; PFD4"
variation 878..880
/gene="PFDN4"
/gene_synonym="C1; PFD4"
/replace=""
/replace="tgt"
/db_xref="dbSNP:150624897"
variation 928
/gene="PFDN4"
/gene_synonym="C1; PFD4"
/replace="c"
/replace="t"
/db_xref="dbSNP:6023044"
variation 1167
/gene="PFDN4"
/gene_synonym="C1; PFD4"
/replace="a"
/replace="g"
/db_xref="dbSNP:377687060"
variation 1210
/gene="PFDN4"
/gene_synonym="C1; PFD4"
/replace="c"
/replace="t"
/db_xref="dbSNP:371165467"
polyA_signal 1324..1329
/gene="PFDN4"
/gene_synonym="C1; PFD4"
variation 1331
/gene="PFDN4"
/gene_synonym="C1; PFD4"
/replace="a"
/replace="g"
/db_xref="dbSNP:180795020"
polyA_site 1346
/gene="PFDN4"
/gene_synonym="C1; PFD4"
ORIGIN
aaagtccaagaggacggaatgtggagacagtgttgtatttttgcggggagttctaggccgaccgggagcgagagaacgctcgggggcgaagcgcgccattgcggccctccccgccgcctgcggtagtccagtcccaagatggcggccaccatgaagaaggcggctgcagaagatgtcaatgttactttcgaagatcaacaaaagataaacaaatttgcacggaatacaagtagaatcacagagctgaaggaagaaatagaagtaaaaaagaaacaactccaaaacctagaagatgcttgtgatgacatcatgcttgcagatgatgattgcttaatgataccttatcaaattggtgatgtcttcattagccattctcaagaagaaacgcaagaaatgttagaagaagcaaagaaaaatttgcaagaagaaattgacgccttagaatccagagtggaatcaattcagcgagtgttagcagatttgaaagttcagttgtatgcaaaattcgggagcaacataaaccttgaagctgatgaaagttaaacattttataatactttttttatttgtttaataaacttgaatattgtttaaaatgataattttccttcttcaaatgacatggaaagcaaaactttcttttttaaaaattttcatttatttaatggaaacttgcccattttcacatgtctgcttatttattttatatttttaaaagaagacagtattcacctatgtattttgcataacgattatatcaagtctaggggcttcatgtcatgttattaaaatcagttaagcaatcttttatgtttctatattatttagaatatttgttgttgcaattttcacataagaaaatttaacagttgtgtcatgttgtttctgtctgattttaattgctgtctaatgacggggaaagcacgatgaaaagatgtacaatcctgcatccttgcttatttcacaactaaagctttgtcatagacttcaaaatatatatgtatatattttatttaaatatatgttacatattatatttaaacatacatatttaacattttttacatatctatcaatatcagagatttgggtaaaagaatgggtaatgtttaaacatgtggaggcatgtggagctttatacaaacagggcagaaccacagaagaacgttttagaaaccaagagatgtgcagaaagaaatgtttagtgttttttcgttttaaattttagattttattttagtgctttgtaattaattggggtttatattgataaagatgtggaagttaaacagctatgtatgtaaaagtaaggcttatttcttaaataaaggatgcatttcttcccaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:5203 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:5203 -> Molecular function: GO:0051082 [unfolded protein binding] evidence: IEA
GeneID:5203 -> Molecular function: GO:0051087 [chaperone binding] evidence: TAS
GeneID:5203 -> Biological process: GO:0006457 [protein folding] evidence: TAS
GeneID:5203 -> Biological process: GO:0044267 [cellular protein metabolic process] evidence: TAS
GeneID:5203 -> Biological process: GO:0051084 ['de novo' posttranslational protein folding] evidence: TAS
GeneID:5203 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:5203 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
GeneID:5203 -> Cellular component: GO:0005739 [mitochondrion] evidence: IDA
GeneID:5203 -> Cellular component: GO:0005829 [cytosol] evidence: NAS
GeneID:5203 -> Cellular component: GO:0016272 [prefoldin complex] evidence: IEA
by
@meso_cacase at
DBCLS
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