2024-03-28 20:20:42, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_000438 1504 bp mRNA linear PRI 16-JUN-2013 DEFINITION Homo sapiens paired box 3 (PAX3), transcript variant PAX3A, mRNA. ACCESSION NM_000438 VERSION NM_000438.5 GI:300116155 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 1504) AUTHORS Liu,F., Cao,J., Lv,J., Dong,L., Pier,E., Xu,G.X., Wang,R.A., Xu,Z., Goding,C. and Cui,R. TITLE TBX2 expression is regulated by PAX3 in the melanocyte lineage JOURNAL Pigment Cell Melanoma Res 26 (1), 67-77 (2013) PUBMED 23020925 REMARK GeneRIF: The identification of TBX2 as a target for PAX3 provides a key insight into how PAX3 may contribute to melanoma evolution. REFERENCE 2 (bases 1 to 1504) AUTHORS de Souza,R.R., Oliveira,I.D., Caran,E.M., Alves,M.T., Abib,S. and Toledo,S.R. TITLE Investigation of PAX3/7-FKHR fusion genes and IGF2 gene expression in rhabdomyosarcoma tumors JOURNAL Growth Horm. IGF Res. 22 (6), 245-249 (2012) PUBMED 23079386 REMARK GeneRIF: PAX3/7-FKHR gene fusions expression was detected in 56% of ARMS tumor samples. REFERENCE 3 (bases 1 to 1504) AUTHORS Bonvin,E., Falletta,P., Shaw,H., Delmas,V. and Goding,C.R. TITLE A phosphatidylinositol 3-kinase-Pax3 axis regulates Brn-2 expression in melanoma JOURNAL Mol. Cell. Biol. 32 (22), 4674-4683 (2012) PUBMED 22988297 REMARK GeneRIF: PI3K has a crucial role in regulating Brn-2 and Pax3 expression and neoplasm invasiveness, and it is a key determinant of melanoma subpopulation diversity. REFERENCE 4 (bases 1 to 1504) AUTHORS Kubic,J.D., Mascarenhas,J.B., Iizuka,T., Wolfgeher,D. and Lang,D. TITLE GSK-3 promotes cell survival, growth, and PAX3 levels in human melanoma cells JOURNAL Mol. Cancer Res. 10 (8), 1065-1076 (2012) PUBMED 22679108 REMARK GeneRIF: GSK-3 regulates proliferation and morphology of melanoma through phosphorylation and increased levels of PAX3 that directly interacted with a number of GSK-3b residues REFERENCE 5 (bases 1 to 1504) AUTHORS Wang,Q., Kumar,S., Slevin,M. and Kumar,P. TITLE Functional analysis of alternative isoforms of the transcription factor PAX3 in melanocytes in vitro JOURNAL Cancer Res. 66 (17), 8574-8580 (2006) PUBMED 16951170 REMARK GeneRIF: Effects of PAX3 isoforms in melanocytes and their potential contribution in tumorigenesis in melanoma. REFERENCE 6 (bases 1 to 1504) AUTHORS Barber,T.D., Barber,M.C., Cloutier,T.E. and Friedman,T.B. TITLE PAX3 gene structure, alternative splicing and evolution JOURNAL Gene 237 (2), 311-319 (1999) PUBMED 10521655 REFERENCE 7 (bases 1 to 1504) AUTHORS Okladnova,O., Syagailo,Y.V., Tranitz,M., Riederer,P., Stober,G., Mossner,R. and Lesch,K.P. TITLE Functional characterization of the human PAX3 gene regulatory region JOURNAL Genomics 57 (1), 110-119 (1999) PUBMED 10191090 REFERENCE 8 (bases 1 to 1504) AUTHORS Morell,R., Friedman,T.B., Moeljopawiro,S., Hartono, Soewito and Asher,J.H. Jr. TITLE A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family JOURNAL Hum. Mol. Genet. 1 (4), 243-247 (1992) PUBMED 1303193 REFERENCE 9 (bases 1 to 1504) AUTHORS Tassabehji,M., Read,A.P., Newton,V.E., Harris,R., Balling,R., Gruss,P. and Strachan,T. TITLE Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene JOURNAL Nature 355 (6361), 635-636 (1992) PUBMED 1347148 REFERENCE 10 (bases 1 to 1504) AUTHORS Carezani-Gavin,M., Clarren,S.K. and Steege,T. TITLE Waardenburg syndrome associated with meningomyelocele JOURNAL Am. J. Med. Genet. 42 (1), 135-136 (1992) PUBMED 1308353 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA758804.1, BC101299.3, S69369.1 and AC010980.8. On Jul 3, 2010 this sequence version replaced gi:188219631. Summary: This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (PAX3A) differs in the 3' UTR, includes an alternate segment in the coding region, which causes a frameshift, and lacks several segments in the 3' coding region, compared to variant PAX3. The resulting protein (isoform PAX3a) has a shorter and distinct C-terminus, compared to isoform PAX3. Isoform PAX3a lacks the paired-type homeodomain. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. 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 :: S69369.1 [ECO:0000332] ##Evidence-Data-END## COMPLETENESS: complete on the 5' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-509 DA758804.1 1-509 510-702 BC101299.3 409-601 703-1130 S69369.1 453-880 1131-1504 AC010980.8 50784-51157 c FEATURES Location/Qualifiers source 1..1504 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2q35" gene 1..1504 /gene="PAX3" /gene_synonym="CDHS; HUP2; WS1; WS3" /note="paired box 3" /db_xref="GeneID:5077" /db_xref="HGNC:8617" /db_xref="MIM:606597" exon 1..466 /gene="PAX3" /gene_synonym="CDHS; HUP2; WS1; WS3" /inference="alignment:Splign:1.39.8" variation 23 /gene="PAX3" /gene_synonym="CDHS; HUP2; WS1; WS3" /replace="g" /replace="t" /db_xref="dbSNP:45501095" STS 76..353 /gene="PAX3" /gene_synonym="CDHS; HUP2; WS1; WS3" /standard_name="GDB:603639" /db_xref="UniSTS:158186" misc_feature 355..357 /gene="PAX3" /gene_synonym="CDHS; HUP2; WS1; WS3" /note="upstream in-frame stop codon" CDS 382..1029 /gene="PAX3" /gene_synonym="CDHS; HUP2; WS1; WS3" /note="isoform PAX3a is encoded by transcript variant PAX3A; paired domain gene 3; paired domain gene HuP2; paired box homeotic gene 3; paired box protein Pax-3" /codon_start=1 /product="paired box protein Pax-3 isoform PAX3a" /protein_id="NP_000429.2" /db_xref="GI:6654638" /db_xref="CCDS:CCDS46523.1" /db_xref="GeneID:5077" /db_xref="HGNC:8617" /db_xref="MIM:606597" /translation="
MTTLAGAVPRMMRPGPGQNYPRSGFPLEVSTPLGQGRVNQLGGVFINGRPLPNHIRHKIVEMAHHGIRPCVISRQLRVSHGCVSKILCRYQETGSIRPGAIGGSKPKQVTTPDVEKKIEEYKRENPGMFSWEIRDKLLKDAVCDRNTVPSVSSISRILRSKFGKGEEEEADLERKEAEESEKKAKHSIDGILSERGKRWRLGRRTCWVTWRASAS
" misc_feature 481..864 /gene="PAX3" /gene_synonym="CDHS; HUP2; WS1; WS3" /note="Paired Box domain; Region: PAX; cd00131" /db_xref="CDD:29036" misc_feature 481..858 /gene="PAX3" /gene_synonym="CDHS; HUP2; WS1; WS3" /note="'Paired box' domain; Region: PAX; pfam00292" /db_xref="CDD:109353" misc_feature order(496..501,514..516,520..528,532..534,547..549, 583..585,589..591,616..618,625..627,631..636,646..648, 673..693,697..702,706..711,766..774,829..831,835..840, 847..849,856..858) /gene="PAX3" /gene_synonym="CDHS; HUP2; WS1; WS3" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:29036" exon 467..702 /gene="PAX3" /gene_synonym="CDHS; HUP2; WS1; WS3" /inference="alignment:Splign:1.39.8" variation 537 /gene="PAX3" /gene_synonym="CDHS; HUP2; WS1; WS3" /replace="c" /replace="g" /db_xref="dbSNP:28945092" exon 703..832 /gene="PAX3" /gene_synonym="CDHS; HUP2; WS1; WS3" /inference="alignment:Splign:1.39.8" STS 723..847 /gene="PAX3" /gene_synonym="CDHS; HUP2; WS1; WS3" /standard_name="D16Bir10" /db_xref="UniSTS:142034" exon 833..1504 /gene="PAX3" /gene_synonym="CDHS; HUP2; WS1; WS3" /inference="alignment:Splign:1.39.8" variation 1053 /gene="PAX3" /gene_synonym="CDHS; HUP2; WS1; WS3" /replace="a" /replace="c" /db_xref="dbSNP:28945093" variation 1080 /gene="PAX3" /gene_synonym="CDHS; HUP2; WS1; WS3" /replace="c" /replace="t" /db_xref="dbSNP:45620734" STS 1091..1422 /gene="PAX3" /gene_synonym="CDHS; HUP2; WS1; WS3" /standard_name="D2S2599" /db_xref="UniSTS:68410" variation 1103 /gene="PAX3" /gene_synonym="CDHS; HUP2; WS1; WS3" /replace="c" /replace="t" /db_xref="dbSNP:28945094" variation 1401 /gene="PAX3" /gene_synonym="CDHS; HUP2; WS1; WS3" /replace="c" /replace="t" /db_xref="dbSNP:28945095" variation 1438 /gene="PAX3" /gene_synonym="CDHS; HUP2; WS1; WS3" /replace="a" /replace="g" /db_xref="dbSNP:45452398" variation 1468 /gene="PAX3" /gene_synonym="CDHS; HUP2; WS1; WS3" /replace="c" /replace="t" /db_xref="dbSNP:28945096" ORIGIN
actcggtgtcaccacaggaggagactcaggcaggccgcgctccagcctcaccaggctccccggctcgccgtggctctctgagcccccttttcagggaccccagtcgctggaacatttgcccagactcgtaccaaacttttccgccctgggctcgggatcctggactccggggcctccccgtcctcccctttcccgggttccagctccggcctctggactaggaaccgacagcccccctccccgcgtccctccctctctctccagccgttttggggaggggctctccacgctccggatagttcccgagggtcatccgcgccgcactcgcctttccgtttcgccttcacctggatataatttccgagcgaagctgcccccaggatgaccacgctggccggcgctgtgcccaggatgatgcggccgggcccggggcagaactacccgcgtagcgggttcccgctggaagtgtccactcccctcggccagggccgcgtcaaccagctcggcggtgtttttatcaacggcaggccgctgcccaaccacatccgccacaagatcgtggagatggcccaccacggcatccggccctgcgtcatctcgcgccagctgcgcgtgtcccacggctgcgtctccaagatcctgtgcaggtaccaggagactggctccatacgtcctggtgccatcggcggcagcaagcccaagcaggtgacaacgcctgacgtggagaagaaaattgaggaatacaaaagagagaacccgggcatgttcagctgggaaatccgagacaaattactcaaggacgcggtctgtgatcgaaacaccgtgccgtcagtgagttccatcagccgcatcctgagaagtaaattcgggaaaggtgaagaggaggaggccgacttggagaggaaggaggcagaggaaagcgagaagaaggccaaacacagcatcgacggcatcctgagcgagcgaggtaagcggtggcgccttgggcggcgcacttgctgggtgacttggagggcatcggctagctgacattggtgatctgacggcagccaagcccagctcggatcaaggtcccttcatgcgcggtgtctctgcgcctgagtaacgacatggaactgaaagaccagagggacactaggaatcaaaacaaacatttctattctgcttagtttttctgttttgtaaatctttctttcttaaccactttcagcccctgggattctagaactgtgaattgtgctctgttgtagggggcaggggaagctctcactctgttgccattaaatgtatgagactgggcatctctgagcaattgtagggccggggatagagggtacttgaatcttcagaagttgaagtagcttttatgccctcaggaaaggccctggtctccggagtttcctcgcattaaaggagagagagagagagtactcttttgggcaacggccctccaaaattgcccccacattggctgccttataaatatgtctgtgtgttgactggt
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:5077 -> Molecular function: GO:0003682 [chromatin binding] evidence: IEA GeneID:5077 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: TAS GeneID:5077 -> Molecular function: GO:0003705 [RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity] evidence: IEA GeneID:5077 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:5077 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IDA GeneID:5077 -> Molecular function: GO:0071837 [HMG box domain binding] evidence: IEA GeneID:5077 -> Biological process: GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] evidence: IEA GeneID:5077 -> Biological process: GO:0001755 [neural crest cell migration] evidence: IEA GeneID:5077 -> Biological process: GO:0001843 [neural tube closure] evidence: IEA GeneID:5077 -> Biological process: GO:0006366 [transcription from RNA polymerase II promoter] evidence: TAS GeneID:5077 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS GeneID:5077 -> Biological process: GO:0007507 [heart development] evidence: IEA GeneID:5077 -> Biological process: GO:0007517 [muscle organ development] evidence: IEA GeneID:5077 -> Biological process: GO:0007605 [sensory perception of sound] evidence: TAS GeneID:5077 -> Biological process: GO:0008283 [cell proliferation] evidence: IEA GeneID:5077 -> Biological process: GO:0008284 [positive regulation of cell proliferation] evidence: IEA GeneID:5077 -> Biological process: GO:0009887 [organ morphogenesis] evidence: TAS GeneID:5077 -> Biological process: GO:0021527 [spinal cord association neuron differentiation] evidence: IEA GeneID:5077 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: IDA GeneID:5077 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IDA GeneID:5077 -> Biological process: GO:0048066 [developmental pigmentation] evidence: IEA GeneID:5077 -> Biological process: GO:0048663 [neuron fate commitment] evidence: IEA GeneID:5077 -> Biological process: GO:0060594 [mammary gland specification] evidence: IEA GeneID:5077 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
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