GGRNA Home | Help | Advanced search

2024-03-29 07:45:52, 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:

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.