2024-03-29 17:42:54, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001098522 1719 bp mRNA linear PRI 15-JUL-2013 DEFINITION Homo sapiens HIV-1 Tat interactive protein 2, 30kDa (HTATIP2), transcript variant 4, mRNA. ACCESSION NM_001098522 VERSION NM_001098522.1 GI:148728171 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 1719) AUTHORS Li,A., Zhang,C., Gao,S., Chen,F., Yang,C., Luo,R. and Xiao,H. TITLE TIP30 loss enhances cytoplasmic and nuclear EGFR signaling and promotes lung adenocarcinogenesis in mice JOURNAL Oncogene 32 (18), 2273-2281 (2013) PUBMED 22733137 REMARK GeneRIF: TIP30 acts as a crucial regulator in suppressing cytoplasmic and nuclear EGFR signaling in the lung.TIP30 functions as a tumor suppressor to inhibit EGFR cytoplasmic and nuclear signaling and suppress adenocarcinogenesis in the lung. REFERENCE 2 (bases 1 to 1719) AUTHORS Huang,Q.D., Hu,X.Q., Wan,L., Gao,G.H., Zheng,S.R., You,J. and Guo,G.L. TITLE [Clinical significance of CC3/TIP30 expression in breast carcinoma and its correlation with HER-2/neu] JOURNAL Zhonghua Wai Ke Za Zhi 50 (1), 57-61 (2012) PUBMED 22490293 REMARK GeneRIF: The loss of CC3/TIP30 is related to occurrence and development in breast cancer, suggesting early onset of metastasis and recurrence. REFERENCE 3 (bases 1 to 1719) 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 4 (bases 1 to 1719) AUTHORS Liu,D.C. and Yang,Z.L. TITLE Clinicopathologic significance of minichromosome maintenance protein 2 and Tat-interacting protein 30 expression in benign and malignant lesions of the gallbladder JOURNAL Hum. Pathol. 42 (11), 1676-1683 (2011) PUBMED 21543106 REMARK GeneRIF: overexpression of MCM2 or loss of expression of Tat-interacting protein 30 is closely related to carcinogenesis, progression, biological behavior, and prognosis of gallbladder adenocarcinoma. REFERENCE 5 (bases 1 to 1719) AUTHORS Zhang,C., Li,A., Gao,S., Zhang,X. and Xiao,H. TITLE The TIP30 protein complex, arachidonic acid and coenzyme A are required for vesicle membrane fusion JOURNAL PLoS ONE 6 (6), E21233 (2011) PUBMED 21731680 REMARK GeneRIF: The TIP30 complex facilitates biological membrane fusion through modification of phosphatidic acid on membranes. REFERENCE 6 (bases 1 to 1719) AUTHORS Xiao,H., Palhan,V., Yang,Y. and Roeder,R.G. TITLE TIP30 has an intrinsic kinase activity required for up-regulation of a subset of apoptotic genes JOURNAL EMBO J. 19 (5), 956-963 (2000) PUBMED 10698937 REFERENCE 7 (bases 1 to 1719) AUTHORS Whitman,S., Wang,X., Shalaby,R. and Shtivelman,E. TITLE Alternatively spliced products CC3 and TC3 have opposing effects on apoptosis JOURNAL Mol. Cell. Biol. 20 (2), 583-593 (2000) PUBMED 10611237 REFERENCE 8 (bases 1 to 1719) AUTHORS Baker,M.E. TITLE TIP30, a cofactor for HIV-1 Tat-activated transcription, is homologous to short-chain dehydrogenases/reductases JOURNAL Curr. Biol. 9 (13), R471 (1999) PUBMED 10395547 REFERENCE 9 (bases 1 to 1719) AUTHORS Xiao,H., Tao,Y., Greenblatt,J. and Roeder,R.G. TITLE A cofactor, TIP30, specifically enhances HIV-1 Tat-activated transcription JOURNAL Proc. Natl. Acad. Sci. U.S.A. 95 (5), 2146-2151 (1998) PUBMED 9482853 REFERENCE 10 (bases 1 to 1719) AUTHORS Shtivelman,E. TITLE A link between metastasis and resistance to apoptosis of variant small cell lung carcinoma JOURNAL Oncogene 14 (18), 2167-2173 (1997) PUBMED 9174052 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AI193677.1, AK222969.1 and BC015358.2. Transcript Variant: This variant (4) has an alternate 5' end and differs in the 5' UTR, compared to variant 1. These differences cause translation initiation at a downstream AUG and an isoform (b, also known as CC3) with a shorter N-terminus compared to isoform a. Variants 2, 3 and 4 encode the same isoform. 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 :: BC015358.2, AK222969.1 [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 1-566 AI193677.1 1-566 567-1684 AK222969.1 241-1358 1685-1719 BC015358.2 1381-1415 FEATURES Location/Qualifiers source 1..1719 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="11" /map="11p15.1" gene 1..1719 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /note="HIV-1 Tat interactive protein 2, 30kDa" /db_xref="GeneID:10553" /db_xref="HGNC:16637" /db_xref="MIM:605628" exon 1..576 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /inference="alignment:Splign:1.39.8" variation 123 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="g" /replace="t" /db_xref="dbSNP:115952677" variation 190 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="g" /replace="t" /db_xref="dbSNP:79849373" variation 204 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="a" /replace="g" /db_xref="dbSNP:10437608" variation 218 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="c" /replace="t" /db_xref="dbSNP:79794774" variation 219 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="" /replace="g" /db_xref="dbSNP:142699710" variation 232 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="c" /replace="t" /db_xref="dbSNP:114719875" misc_feature 340..342 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /note="upstream in-frame stop codon" variation 346 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="c" /replace="t" /db_xref="dbSNP:371982853" variation 377 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="c" /replace="t" /db_xref="dbSNP:199846818" CDS 382..1110 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /EC_number="1.1.1.-" /note="isoform b is encoded by transcript variant 4; short chain dehydrogenase/reductase family 44U, member 1; Tat-interacting protein (30kD); oxidoreductase HTATIP2; HIV-1 TAT-interactive protein 2; 30 kDa HIV-1 TAT-interacting protein" /codon_start=1 /product="oxidoreductase HTATIP2 isoform b" /protein_id="NP_001091992.1" /db_xref="GI:148728172" /db_xref="CCDS:CCDS7852.1" /db_xref="GeneID:10553" /db_xref="HGNC:16637" /db_xref="MIM:605628" /translation="
MAETEALSKLREDFRMQNKSVFILGASGETGRVLLKEILEQGLFSKVTLIGRRKLTFDEEAYKNVNQEVVDFEKLDDYASAFQGHDVGFCCLGTTRGKAGAEGFVRVDRDYVLKSAELAKAGGCKHFNLLSSKGADKSSNFLYLQVKGEVEAKVEELKFDRYSVFRPGVLLCDRQESRPGEWLVRKFFGSLPDSWASGHSVPVVTVVRAMLNNVVRPRDKQMELLENKAIHDLGKAHGSLKP
" misc_feature 436..1074 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /note="CC3(TIP30)-like, atypical (a) SDRs; Region: CC3_like_SDR_a; cd05250" /db_xref="CDD:187560" misc_feature 448..>891 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /note="NADH(P)-binding; Region: NAD_binding_10; pfam13460" /db_xref="CDD:205638" misc_feature order(454..456,460..471,535..540,595..597,652..663, 700..702,712..714,769..777,808..810,820..822,880..891) /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /note="NAD binding site [chemical binding]; other site" /db_xref="CDD:187560" misc_feature order(703..705,775..777,808..810,820..822) /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /note="active site" /db_xref="CDD:187560" variation 386 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="c" /replace="t" /db_xref="dbSNP:369625277" variation 471 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="c" /replace="t" /db_xref="dbSNP:191533610" variation 490 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="g" /replace="t" /db_xref="dbSNP:202128953" variation 506 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="a" /replace="g" /db_xref="dbSNP:200846453" variation 525 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="a" /replace="g" /db_xref="dbSNP:145143466" variation 529 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="a" /replace="g" /db_xref="dbSNP:200473579" variation 540 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="c" /replace="g" /db_xref="dbSNP:145549108" exon 577..684 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /inference="alignment:Splign:1.39.8" variation 615 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="c" /replace="t" /db_xref="dbSNP:112368564" variation 623 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="c" /replace="t" /db_xref="dbSNP:144136689" variation 634 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="c" /replace="t" /db_xref="dbSNP:146530848" variation 639 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="c" /replace="t" /db_xref="dbSNP:77126933" variation 640 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="g" /replace="t" /db_xref="dbSNP:14273" variation 646 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="g" /replace="t" /db_xref="dbSNP:140788394" variation 655 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="c" /replace="t" /db_xref="dbSNP:377269888" variation 677 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="c" /replace="g" /db_xref="dbSNP:143928186" variation 678 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="c" /replace="t" /db_xref="dbSNP:200863409" variation 683 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="c" /replace="t" /db_xref="dbSNP:148194087" exon 685..822 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /inference="alignment:Splign:1.39.8" variation 713 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="a" /replace="g" /db_xref="dbSNP:140080675" variation 717 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="a" /replace="g" /db_xref="dbSNP:140165037" variation 742 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="c" /replace="g" /db_xref="dbSNP:181081777" variation 763 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="a" /replace="g" /db_xref="dbSNP:377524639" variation 771 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="a" /replace="g" /db_xref="dbSNP:150327548" variation 785 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="a" /replace="c" /db_xref="dbSNP:370929399" variation 792 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="a" /replace="g" /db_xref="dbSNP:141995111" exon 823..884 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /inference="alignment:Splign:1.39.8" variation 838 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="a" /replace="g" /db_xref="dbSNP:138879906" variation 862 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="c" /replace="t" /db_xref="dbSNP:376468659" variation 865 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="c" /replace="t" /db_xref="dbSNP:370076424" exon 885..1688 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /inference="alignment:Splign:1.39.8" variation 888 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="c" /replace="t" /db_xref="dbSNP:143261552" variation 940 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="c" /replace="t" /db_xref="dbSNP:1051776" variation 961..962 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="" /replace="c" /db_xref="dbSNP:35285540" variation 972 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="g" /replace="t" /db_xref="dbSNP:3824886" variation 977 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="a" /replace="c" /db_xref="dbSNP:79296772" variation 984 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:142077207" variation 997 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="a" /replace="g" /db_xref="dbSNP:144100738" variation 1002 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="g" /replace="t" /db_xref="dbSNP:373986235" variation 1062 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="c" /replace="g" /db_xref="dbSNP:187804828" variation 1066 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="c" /replace="g" /db_xref="dbSNP:14222" variation 1074 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="c" /replace="t" /db_xref="dbSNP:200003351" variation 1089 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:202065100" variation 1108 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="" /replace="t" /db_xref="dbSNP:370774686" variation 1116 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="a" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:3781679" variation 1246 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="a" /replace="g" /db_xref="dbSNP:372324685" variation 1299 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="a" /replace="g" /db_xref="dbSNP:191247504" variation 1382 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="a" /replace="c" /db_xref="dbSNP:183794581" variation 1420 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="c" /replace="t" /db_xref="dbSNP:375554086" variation 1494 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="c" /replace="t" /db_xref="dbSNP:16906210" variation 1527 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="a" /replace="g" /db_xref="dbSNP:369175509" STS 1529..1668 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /standard_name="G29234" /db_xref="UniSTS:63559" variation 1573 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="g" /replace="t" /db_xref="dbSNP:188466553" variation 1613 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" /replace="c" /replace="t" /db_xref="dbSNP:77228546" polyA_signal 1657..1662 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" polyA_signal 1665..1670 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" polyA_site 1688 /gene="HTATIP2" /gene_synonym="CC3; SDR44U1; TIP30" ORIGIN
gcggccgccctgctcctgctgcgtcgtgaggacccggggccgggggctggccccaggtaacccctccgcgtatgggaccgagctgggccaggtctcctggccgggccggggataccgtggggtatgcccagtgatgccagcagcttgtggcacctgggcgcaccctccagctcgggccccttccgatgggtctgctggctcaggtgcgggcgatggccggggagccgcgccccgcacgtgactcagcactttccccagagcccggactgcggagaacaatatcctcctccctaacagataaacagcccttgttcctcgggataaggactggcagtcccctgacaccctaagaccggcatctgtcgatgttatttccccagcatggccgaaacagaagccctgtcgaagcttcgggaagacttcaggatgcagaataaatccgtctttattttgggcgccagcggagaaaccggcagagtgctcttaaaggaaatcctggagcagggcctgttttccaaagtcacgctcattggccggaggaagctcaccttcgacgaggaagcttataaaaatgtgaatcaagaagtggtggactttgaaaagttggatgactacgcctctgcctttcaaggtcatgatgttggattctgttgcctgggtaccaccagagggaaagctggggcggagggatttgttcgtgttgaccgagattatgtgctgaagtctgcagagctggcaaaagctggagggtgcaaacatttcaacttgctatcctctaaaggagctgataaatcaagcaattttttatatctacaagttaagggagaagtagaagccaaggttgaagaattaaaatttgatcgttactctgtatttaggcctggagttctgttatgtgataggcaagaatctcgcccaggtgaatggctggttagaaagttctttggctccttaccagactcttgggccagtgggcattctgtgcctgtggtgaccgtggttagagcaatgctgaacaatgtggtgagaccaagagacaagcagatggaactgctggagaacaaggccatccatgacctggggaaagcgcatggctctctcaagccatgaccacattggagaaatggtttttattgtcaaccttaacacccatcaccaaatcggtaatttcagggtctaaaaaaagtcagcatgttttaactttgttgttttactatcctcaggcatccattccaatcaagaaatgatggtgctctgcatcagtggttcagagcctggttatacatatagatcactcagggagctttggaaaaataaagatttgtcagccctatctcaaacttgaatcaaaatttctggggtgtgggcacaataatctgtaattttctttgtttatacttcccctgatgccactggttccgatgccactggctggggggcctgctttgaaatgcttgtctgcagagtcacagcagccatgaaaaccttatgaccgtgcaaatgagctctgctctaaaattgttgacattcatgtctctgagttacaaaagtgctaattcactacatgtaattgtgtaagtaaacattgtgcctttactacttctttatgtaatagaagttatatacctaagcttatataatacatggggaggattaaataaaggaataaagatgaatggacaactcctaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:10553 -> Molecular function: GO:0003713 [transcription coactivator activity] evidence: TAS GeneID:10553 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:10553 -> Molecular function: GO:0016491 [oxidoreductase activity] evidence: IEA GeneID:10553 -> Biological process: GO:0001525 [angiogenesis] evidence: IEA GeneID:10553 -> Biological process: GO:0006357 [regulation of transcription from RNA polymerase II promoter] evidence: TAS GeneID:10553 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:10553 -> Biological process: GO:0019048 [modulation by virus of host morphology or physiology] evidence: IEA GeneID:10553 -> Biological process: GO:0030154 [cell differentiation] evidence: IEA GeneID:10553 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: TAS GeneID:10553 -> Biological process: GO:0045765 [regulation of angiogenesis] evidence: IDA GeneID:10553 -> Biological process: GO:0051170 [nuclear import] evidence: IDA GeneID:10553 -> Cellular component: GO:0005634 [nucleus] evidence: TAS GeneID:10553 -> Cellular component: GO:0005635 [nuclear envelope] evidence: IDA GeneID:10553 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA ANNOTATIONS from NCBI Entrez Gene (20130726): NP_001091992 -> EC 1.1.1.-
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