Home |
Help |
Advanced search
2025-05-09 19:53:09, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001031800 854 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens TIP41, TOR signaling pathway regulator-like (S.
cerevisiae) (TIPRL), transcript variant 2, mRNA.
ACCESSION NM_001031800
VERSION NM_001031800.1 GI:73088933
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 854)
AUTHORS Sents,W., Ivanova,E., Lambrecht,C., Haesen,D. and Janssens,V.
TITLE The biogenesis of active protein phosphatase 2A holoenzymes: a
tightly regulated process creating phosphatase specificity
JOURNAL FEBS J. 280 (2), 644-661 (2013)
PUBMED 22443683
REMARK GeneRIF: Data indicate that PP2A holoenzyme biogenesis and activity
are controlled by five PP2A modulators, consisting of alpha4, PTPA,
LCMT1, PME-1 and TIPRL1, which serve to prevent promiscuous
phosphatase activity until the holoenzyme is completely assembled.
Review article
REFERENCE 2 (bases 1 to 854)
AUTHORS Song,I.S., Jun,S.Y., Na,H.J., Kim,H.T., Jung,S.Y., Ha,G.H.,
Park,Y.H., Long,L.Z., Yu,D.Y., Kim,J.M., Kim,J.H., Ko,J.H.,
Kim,C.H. and Kim,N.S.
TITLE Inhibition of MKK7-JNK by the TOR signaling pathway regulator-like
protein contributes to resistance of HCC cells to TRAIL-induced
apoptosis
JOURNAL Gastroenterology 143 (5), 1341-1351 (2012)
PUBMED 22841785
REMARK GeneRIF: TIPRL is highly up-regulated in human HCC samples and cell
lines, compared with noncancerous liver tissues.
REFERENCE 3 (bases 1 to 854)
AUTHORS Ehret,G.B., O'Connor,A.A., Weder,A., Cooper,R.S. and Chakravarti,A.
TITLE Follow-up of a major linkage peak on chromosome 1 reveals
suggestive QTLs associated with essential hypertension: GenNet
study
JOURNAL Eur. J. Hum. Genet. 17 (12), 1650-1657 (2009)
PUBMED 19536175
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 4 (bases 1 to 854)
AUTHORS Cheung,C.L., Chan,B.Y., Chan,V., Ikegawa,S., Kou,I., Ngai,H.,
Smith,D., Luk,K.D., Huang,Q.Y., Mori,S., Sham,P.C. and Kung,A.W.
TITLE Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible
genetic association with bone mineral density variation
JOURNAL Hum. Mol. Genet. 18 (4), 679-687 (2009)
PUBMED 19064610
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 5 (bases 1 to 854)
AUTHORS McConnell,J.L., Gomez,R.J., McCorvey,L.R., Law,B.K. and
Wadzinski,B.E.
TITLE Identification of a PP2A-interacting protein that functions as a
negative regulator of phosphatase activity in the ATM/ATR signaling
pathway
JOURNAL Oncogene 26 (41), 6021-6030 (2007)
PUBMED 17384681
REFERENCE 6 (bases 1 to 854)
AUTHORS Gingras,A.C., Caballero,M., Zarske,M., Sanchez,A., Hazbun,T.R.,
Fields,S., Sonenberg,N., Hafen,E., Raught,B. and Aebersold,R.
TITLE A novel, evolutionarily conserved protein phosphatase complex
involved in cisplatin sensitivity
JOURNAL Mol. Cell Proteomics 4 (11), 1725-1740 (2005)
PUBMED 16085932
REFERENCE 7 (bases 1 to 854)
AUTHORS Matsuda,A., Suzuki,Y., Honda,G., Muramatsu,S., Matsuzaki,O.,
Nagano,Y., Doi,T., Shimotohno,K., Harada,T., Nishida,E., Hayashi,H.
and Sugano,S.
TITLE Large-scale identification and characterization of human genes that
activate NF-kappaB and MAPK signaling pathways
JOURNAL Oncogene 22 (21), 3307-3318 (2003)
PUBMED 12761501
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AL049670.1, BC009506.2 and AI167356.1.
Summary: TIPRL is an inhibitory regulator of protein phosphatase-2A
(PP2A) (see PPP2CA; MIM 176915), PP4 (see PPP4C; MIM 602035), and
PP6 (see PPP6C; MIM 612725) (McConnell et al., 2007 [PubMed
17384681]).[supplied by OMIM, Nov 2010].
##Evidence-Data-START##
Transcript exon combination :: BC009506.2 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025088 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-122 AL049670.1 1-122
123-819 BC009506.2 1-697
820-854 AI167356.1 1-35 c
FEATURES Location/Qualifiers
source 1..854
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q23.2"
gene 1..854
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/note="TIP41, TOR signaling pathway regulator-like (S.
cerevisiae)"
/db_xref="GeneID:261726"
/db_xref="HGNC:30231"
/db_xref="HPRD:14608"
/db_xref="MIM:611807"
exon 1..249
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/inference="alignment:Splign:1.39.8"
variation 26
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/replace="c"
/replace="g"
/db_xref="dbSNP:189822568"
variation 41..42
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/replace=""
/replace="c"
/db_xref="dbSNP:369849372"
misc_feature 50..52
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/note="upstream in-frame stop codon"
variation 97
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/replace="c"
/replace="g"
/db_xref="dbSNP:372030252"
variation 125
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/replace="c"
/replace="t"
/db_xref="dbSNP:375198968"
variation 132
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/replace="a"
/replace="g"
/db_xref="dbSNP:375908803"
variation 137
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/replace="a"
/replace="g"
/db_xref="dbSNP:370875883"
variation 138
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/replace="c"
/replace="t"
/db_xref="dbSNP:370017180"
CDS 146..682
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/note="isoform 2 is encoded by transcript variant 2;
TIP41-like protein; putative MAPK activating protein;
putative MAPK-activating protein PM10; type 2A-interacting
protein"
/codon_start=1
/product="TIP41-like protein isoform 2"
/protein_id="NP_001026970.1"
/db_xref="GI:73088934"
/db_xref="CCDS:CCDS30935.1"
/db_xref="GeneID:261726"
/db_xref="HGNC:30231"
/db_xref="HPRD:14608"
/db_xref="MIM:611807"
/translation="
MMIHGFQSSHRDFCFGPWKLTASKTHIMKSADVEKLADELHMPSLPEMMFGDNVLRIQHGSGFGIEFNATDALRCVNNYQGMLKVACAEEWQESRTEGEHSKEVIKPYDWTYTTDYKGTLLGESLKLKVVPTTDHIDTEKLKAREQIKFFEEVLLFEDELHDHGVSSLSVKIPGGGHL
"
misc_feature 287..>661
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/note="TIP41-like family; Region: TIP41; pfam04176"
/db_xref="CDD:190896"
misc_feature 461..463
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/experiment="experimental evidence, no additional details
recorded"
/note="N6-acetyllysine; propagated from
UniProtKB/Swiss-Prot (O75663.2); acetylation site"
variation 236
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/replace="a"
/replace="g"
/db_xref="dbSNP:371476972"
variation 238
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/replace="a"
/replace="g"
/db_xref="dbSNP:374258481"
exon 250..429
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/inference="alignment:Splign:1.39.8"
variation 259
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/replace="c"
/replace="t"
/db_xref="dbSNP:34489008"
variation 294
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/replace="c"
/replace="t"
/db_xref="dbSNP:371542831"
variation 304
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/replace="c"
/replace="t"
/db_xref="dbSNP:375424197"
variation 354
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/replace="c"
/replace="t"
/db_xref="dbSNP:375553827"
variation 361
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/replace="a"
/replace="g"
/db_xref="dbSNP:190317606"
exon 430..529
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/inference="alignment:Splign:1.39.8"
variation 432
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/replace="c"
/replace="t"
/db_xref="dbSNP:61744533"
variation 484
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/replace="a"
/replace="c"
/db_xref="dbSNP:370293455"
variation 491
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/replace="g"
/replace="t"
/db_xref="dbSNP:148311054"
variation 520
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/replace="g"
/replace="t"
/db_xref="dbSNP:201492707"
exon 530..661
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/inference="alignment:Splign:1.39.8"
variation 533
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/replace="a"
/replace="g"
/db_xref="dbSNP:372428067"
variation 580
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/replace="a"
/replace="g"
/db_xref="dbSNP:146679460"
variation 616
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/replace="a"
/replace="g"
/db_xref="dbSNP:147544818"
exon 662..849
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/inference="alignment:Splign:1.39.8"
variation 755
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/replace="a"
/replace="g"
/db_xref="dbSNP:190220186"
variation 770
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/replace="a"
/replace="c"
/db_xref="dbSNP:181726518"
variation 789
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/replace="a"
/replace="c"
/db_xref="dbSNP:187212023"
variation 815
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/replace="a"
/replace="t"
/db_xref="dbSNP:150220600"
variation 819..820
/gene="TIPRL"
/gene_synonym="dJ69E11.3; RP1-69E11.1; TIP; TIP41"
/replace=""
/replace="a"
/db_xref="dbSNP:11455456"
ORIGIN
gggtcggccggcagggggcggggccgggcatggtaacggctcggaagcctaggaggctgggccggagggaggcggaggaaccggtgttcgccgccgccgctgcttcagcttattccttgtggcctctgcgggtcctgcctcagccatgatgatccacggcttccagagcagccaccgggatttctgcttcgggccctggaagctgacggcgtccaagacccacatcatgaagtcggcggatgtggagaaattagccgatgaattacatatgccatctctccctgaaatgatgtttggagacaacgttttaagaatccagcatgggtctggctttggaattgagttcaatgctacagatgcgttaagatgtgtaaacaactaccaaggaatgcttaaagtggcctgtgctgaagagtggcaagaaagcaggacggagggtgaacactccaaagaggttattaaaccatatgattggacctatacaacagattataagggaaccttacttggagaatctcttaagttaaaggttgtacctacaacagatcatatagatacagaaaaattgaaagccagagaacagattaagttttttgaagaagttctcctttttgaggatgaacttcatgatcatggagtttcaagcctgagtgtgaagattcctggtggcgggcacctgtagtcccagctactcgggaggctgaggcaggagaagcgtgaacccgggaggcggagcttgcagtgagctgagatcgcaccactgcactccagccctccagcctgggcgacagagcaagactccgtctcaaaaaaaaaaaataaaataaaataaaagaagtagaaaacacaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:261726 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:261726 -> Biological process: GO:0000077 [DNA damage checkpoint] evidence: IMP
GeneID:261726 -> Biological process: GO:0034048 [negative regulation of protein phosphatase type 2A activity] evidence: IDA
GeneID:261726 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.