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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
//

Annotations:

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

by @meso_cacase at DBCLS
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