LOCUS       NM_001257096            5342 bp    mRNA    linear   PRI 01-OCT-2024
DEFINITION  Homo sapiens paired box 1 (PAX1), transcript variant 2, mRNA.
ACCESSION   NM_001257096
VERSION     NM_001257096.2
KEYWORDS    RefSeq; MANE Select.
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 5342)
  AUTHORS   Luo,H., Lian,Y., Tao,H., Zhao,Y., Wang,Z., Zhou,J., Zhang,Z. and
            Jiang,S.
  TITLE     Relationship between p16/ki67 immunoscores and PAX1/ZNF582
            methylation status in precancerous and cancerous cervical lesions
            in high-risk HPV-positive women
  JOURNAL   BMC Cancer 24 (1), 1171 (2024)
   PUBMED   39304838
  REMARK    GeneRIF: Relationship between p16/ki67 immunoscores and PAX1/ZNF582
            methylation status in precancerous and cancerous cervical lesions
            in high-risk HPV-positive women.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5342)
  AUTHORS   Miao,D., Ren,J., Jia,Y., Jia,Y., Li,Y., Huang,H. and Gao,R.
  TITLE     PAX1 represses canonical Wnt signaling pathway and plays dual roles
            during endoderm differentiation
  JOURNAL   Cell Commun Signal 22 (1), 242 (2024)
   PUBMED   38664733
  REMARK    GeneRIF: PAX1 represses canonical Wnt signaling pathway and plays
            dual roles during endoderm differentiation.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5342)
  AUTHORS   Li,X., He,S., Zhao,X., Sun,D., Wu,S., Xu,D. and Li,Y.
  TITLE     High-grade cervical lesions diagnosed by JAM3/PAX1 methylation in
            high-risk human papillomavirus-infected patients
  JOURNAL   Zhong Nan Da Xue Xue Bao Yi Xue Ban 48 (12), 1820-1829 (2023)
   PUBMED   38448375
  REMARK    GeneRIF: High-grade cervical lesions diagnosed by JAM3/PAX1
            methylation in high-risk human papillomavirus-infected patients.
REFERENCE   4  (bases 1 to 5342)
  AUTHORS   Parrack,P.H., Hornick,J.L. and Sholl,L.M.
  TITLE     PAX1 expression in thymic epithelial neoplasms and morphologic
            mimics
  JOURNAL   Hum Pathol 142, 7-14 (2023)
   PUBMED   37776957
  REMARK    GeneRIF: PAX1 expression in thymic epithelial neoplasms and
            morphologic mimics.
REFERENCE   5  (bases 1 to 5342)
  AUTHORS   Wilm,B., Dahl,E., Peters,H., Balling,R. and Imai,K.
  TITLE     Targeted disruption of Pax1 defines its null phenotype and proves
            haploinsufficiency
  JOURNAL   Proc Natl Acad Sci U S A 95 (15), 8692-8697 (1998)
   PUBMED   9671740
REFERENCE   6  (bases 1 to 5342)
  AUTHORS   Hol,F.A., Geurds,M.P., Chatkupt,S., Shugart,Y.Y., Balling,R.,
            Schrander-Stumpel,C.T., Johnson,W.G., Hamel,B.C. and Mariman,E.C.
  TITLE     PAX genes and human neural tube defects: an amino acid substitution
            in PAX1 in a patient with spina bifida
  JOURNAL   J Med Genet 33 (8), 655-660 (1996)
   PUBMED   8863157
REFERENCE   7  (bases 1 to 5342)
  AUTHORS   Smith,C.A. and Tuan,R.S.
  TITLE     Human PAX gene expression and development of the vertebral column
  JOURNAL   Clin Orthop Relat Res (302), 241-250 (1994)
   PUBMED   7909508
REFERENCE   8  (bases 1 to 5342)
  AUTHORS   Stapleton,P., Weith,A., Urbanek,P., Kozmik,Z. and Busslinger,M.
  TITLE     Chromosomal localization of seven PAX genes and cloning of a novel
            family member, PAX-9
  JOURNAL   Nat Genet 3 (4), 292-298 (1993)
   PUBMED   7981748
REFERENCE   9  (bases 1 to 5342)
  AUTHORS   Schnittger,S., Rao,V.V., Deutsch,U., Gruss,P., Balling,R. and
            Hansmann,I.
  TITLE     Pax1, a member of the paired box-containing class of developmental
            control genes, is mapped to human chromosome 20p11.2 by in situ
            hybridization (ISH and FISH)
  JOURNAL   Genomics 14 (3), 740-744 (1992)
   PUBMED   1358810
REFERENCE   10 (bases 1 to 5342)
  AUTHORS   Burri,M., Tromvoukis,Y., Bopp,D., Frigerio,G. and Noll,M.
  TITLE     Conservation of the paired domain in metazoans and its structure in
            three isolated human genes
  JOURNAL   EMBO J 8 (4), 1183-1190 (1989)
   PUBMED   2501086
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL035562.14, BC143793.1 and
            AI167631.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 13, 2020 this sequence version replaced NM_001257096.1.
            
            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. This gene plays a role in
            pattern formation during embryogenesis and may be essential for
            development of the vertebral column. This gene is silenced by
            methylation in ovarian and cervical cancers and may be a tumor
            suppressor gene. Mutations in this gene are also associated with
            vertebral malformations. [provided by RefSeq, Mar 2012].
            
            Transcript Variant: This variant (2) uses an alternate splice site
            in the 3' coding region, which results in a frameshift, compared to
            variant 1. It encodes isoform 2, which has a shorter and distinct
            C-terminus, compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The extent of this transcript is
            supported by transcript alignments and orthologous data.
            
            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 :: BC143791.1, SRR14038197.2209117.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2157437 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000613128.5/ ENSP00000481334.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-250               AL035562.14        60508-60757         c
            251-1714            BC143793.1         1-1464
            1715-4871           AL035562.14        48411-51567         c
            4872-5342           AI167631.1         18-488              c
FEATURES             Location/Qualifiers
     source          1..5342
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.22"
     gene            1..5342
                     /gene="PAX1"
                     /gene_synonym="HUP48; OFC2; OTFCS2"
                     /note="paired box 1"
                     /db_xref="GeneID:5075"
                     /db_xref="HGNC:HGNC:8615"
                     /db_xref="MIM:167411"
     exon            1..335
                     /gene="PAX1"
                     /gene_synonym="HUP48; OFC2; OTFCS2"
                     /inference="alignment:Splign:2.1.0"
     CDS             50..1423
                     /gene="PAX1"
                     /gene_synonym="HUP48; OFC2; OTFCS2"
                     /note="isoform 2 is encoded by transcript variant 2;
                     paired box gene 1; paired domain gene HuP48; paired box
                     protein Pax-1"
                     /codon_start=1
                     /product="paired box protein Pax-1 isoform 2"
                     /protein_id="NP_001244025.1"
                     /db_xref="CCDS:CCDS74709.1"
                     /db_xref="GeneID:5075"
                     /db_xref="HGNC:HGNC:8615"
                     /db_xref="MIM:167411"
                     /translation="MKFTLGLGSRAWRVSWEGAAAAAAGPGAGGSALRCRAQRVSSPR
                     LGRRGSRLSGALPLCLSRGGGGAQALPDCAGPSPGHPGHPGARQLAGPLAMEQTYGEV
                     NQLGGVFVNGRPLPNAIRLRIVELAQLGIRPCDISRQLRVSHGCVSKILARYNETGSI
                     LPGAIGGSKPRVTTPNVVKHIRDYKQGDPGIFAWEIRDRLLADGVCDKYNVPSVSSIS
                     RILRNKIGSLAQPGPYEASKQPPSQPTLPYNHIYQYPYPSPVSPTGAKMGSHPGVPGT
                     AGHVSIPRSWPSAHSVSNILGIRTFMEQTGALAGSEGTAYSPKMEDWAGVNRTAFPAT
                     PAVNGLEKPALEADIKYTQSASTLSAVGGFLPACAYPASNQHGVYSAPGGGYLAPGPP
                     WPPAQGPPLAPPGAGVAVHGGELAAAMTFKHPSREVADRKPPSSGSKAPDALSSLHGL
                     PIPASTS"
     exon            336..965
                     /gene="PAX1"
                     /gene_synonym="HUP48; OFC2; OTFCS2"
                     /inference="alignment:Splign:2.1.0"
     exon            966..1108
                     /gene="PAX1"
                     /gene_synonym="HUP48; OFC2; OTFCS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1109..1331
                     /gene="PAX1"
                     /gene_synonym="HUP48; OFC2; OTFCS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1332..5342
                     /gene="PAX1"
                     /gene_synonym="HUP48; OFC2; OTFCS2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2819..2824
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAX1"
                     /gene_synonym="HUP48; OFC2; OTFCS2"
                     /note="hexamer: AATAAA"
     polyA_site      2843
                     /gene="PAX1"
                     /gene_synonym="HUP48; OFC2; OTFCS2"
                     /note="major polyA site"
     regulatory      5002..5007
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAX1"
                     /gene_synonym="HUP48; OFC2; OTFCS2"
                     /note="hexamer: AATAAA"
     polyA_site      5031
                     /gene="PAX1"
                     /gene_synonym="HUP48; OFC2; OTFCS2"
     regulatory      5323..5328
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAX1"
                     /gene_synonym="HUP48; OFC2; OTFCS2"
                     /note="hexamer: AATAAA"
     polyA_site      5342
                     /gene="PAX1"
                     /gene_synonym="HUP48; OFC2; OTFCS2"
ORIGIN      
        1 gattcccgca cgctgcagcc tcccggtcag acgaatttct cccaatcgga tgaagttcac
       61 cctgggcctg gggtcgcggg cgtggagagt gtcctgggag ggggcagcag cggcggcggc
      121 aggccctgga gcgggcggca gcgcgctccg ctgccgcgca cagcgcgtct ccagcccgcg
      181 gctgggccgc cgcggctctc ggctctcggg cgccctccct ctatgcctct cacgcggcgg
      241 cggcggcgcc caagctctcc cggactgcgc cgggcccagc cccggccacc ccggccaccc
      301 cggcgccagg cagctggccg gcccgctcgc tatggagcag acgtatggcg aggtgaacca
      361 gctgggcggt gtgttcgtca acggccgccc cctgcccaac gccatccgct tgcgcattgt
      421 ggagctggcg cagctgggca tccgaccctg tgacatcagt cggcagctcc gcgtatccca
      481 cggctgcgtg agcaagatcc tggcgcgcta caacgagacc ggctccattc tgcccggggc
      541 catcgggggg agcaagcccc gcgtcaccac tcccaacgtg gtcaagcaca tccgggacta
      601 caagcaagga gaccctggca tctttgcctg ggagatccgc gaccggctgc tggccgacgg
      661 cgtctgtgac aagtacaatg tgccttcggt gagctccatc agccgcatcc tgcgcaacaa
      721 gatcggcagc ctggcgcagc ccggaccgta cgaggcaagt aagcagccgc cgtcgcagcc
      781 tacgctgccc tacaaccaca tctaccagta cccctacccc agtcccgtgt cgcccacggg
      841 cgccaagatg ggcagccacc ccggggtccc gggcacggcg ggccacgtca gcatcccgcg
      901 ctcatggccc tcggcacact cggtcagcaa catcctgggc atccggacgt ttatggagca
      961 aacaggggcc ctggctggga gcgaaggcac cgcttactct cccaagatgg aagactgggc
     1021 cggcgtgaac cgcacggcct tccccgccac ccccgcagtg aatgggctag agaaacctgc
     1081 cttagaggca gacattaaat acactcagtc ggcctccacc ctctctgccg tgggcggctt
     1141 tctccccgcc tgcgcctacc cggcctccaa ccagcacggc gtgtacagcg ccccgggcgg
     1201 cggctacctc gccccgggcc cgccgtggcc gcctgcgcaa ggtcctcctc tggcgccccc
     1261 cggggccggc gtagctgtgc atggcgggga actcgcggca gcaatgacct tcaagcatcc
     1321 cagccgagaa gtggctgaca ggaagcctcc cagctccggc agcaaggccc cggacgccct
     1381 cagtagctta cacggactgc ccatcccggc ctcgacctcc taggggcagc tctccccgga
     1441 cccgagcccg gagggaacgg caggcggacc cgggcgcaca ggtctgcgcg gcggccccgg
     1501 caatcggcac gggcaggatc ggaggactcg cggaggagga agccagtgcc ggcccgcggg
     1561 gtgcacgccc agccagcccc caggcccagc cctgcctctg gccggaccca ccacacttcc
     1621 tttattggtc tgggttttta ggcttctctg aacttgggtt ttagactgcc gtaccctcct
     1681 cacaatcctt gctctgacgt ggcctccttc gctctgccag cttcaaattt cttttttgtc
     1741 actcccttgt ccgtctccgt ctcgcctctc tccctgtttc cttcccccct ctttctttct
     1801 cactctccct cccttccctt tctctttccc ttcctcccta ccttccaccc cggctttccc
     1861 cgaccttcca gggctccctc tgcccttcca ctctcttttc cttgctccga cctctgctcc
     1921 agtcccgctt cttcccccgt ctcctctttc tagtcctcta tatgctatca gccctttttc
     1981 ctggtccatc cctgtcgttc cttctctctc tgtctctggt tctactgtca agggccctag
     2041 ttccctttgt tttactgctt ccccaaccct ccctcagtcc ctgagagccc tagagccatc
     2101 tcggtgacag tcccttctct ggcacctggg actttgtagc cttcactcct ctgagcccac
     2161 cagccctaat ggaggggggc tcaaacctag gaagtggaca gaaaagccac agcctttatt
     2221 ttgtattttt tttgtaataa caaaccctaa aaaaccctcc atgaactgtc ctctcccgtc
     2281 gatccccgca gcatattgtc tggaaatctg ttttctttct cagagcccag tggccgccgg
     2341 gcttctcttc ccttctgaga tgatgtcacc ccaaagaaga ctggggtagg agtagggagc
     2401 acaggggttg ttggtgtttt cagtgcttag aaaactgggt tgtcctgcag gtgtctcctc
     2461 ccacccctcc actcgcaaca cttgctaggg aatccgacca gtggtaaaca catcagcact
     2521 ttttggtgtt caggggtcag cacatttgtt aatttaaacc acagactgct tccaggtaca
     2581 aaggttcatt tggacttctg gtttgcaagg gatgagggtt aaaaaaaaca aaacaaaaca
     2641 aacaacaaca acaacaaaaa caacccagaa agtatcttct agagccagcc gcaagagctg
     2701 tgagctgctt ccaagttagg cgagctggtg gtggtaccct ggacataatg caattctgta
     2761 gtcagagcaa tatccctggc gagagcctga catcgcctgt taaaggtggc tgcctctgaa
     2821 taaaggaaag cgtctgaaag gtgtgtggtg aggtgagcaa gtctgtttct gagcgcagag
     2881 tgttgagttc ttactccgta gctaccctct cccctgagtt cctaggatga acactatcaa
     2941 gggaaattat gcagaaacca ccttgaaatg cagttaattc tgaaaagagt aaaatgggca
     3001 aaaggcaatg agccagaatg gaggatttct tcagaacatt tctagtattc taaaagctaa
     3061 agaagacaat cccaggctac caagtaatct agggggtttg cactacaaag gggcttccgg
     3121 ctaattgttt ttttttcctg cctctgtttg accttctaaa actgatggaa gagatttttg
     3181 aattgaagtt gctgtttgtg agtggagctg cctgcttggt gtgtgcactg gtcccaccta
     3241 ggggactagt ggtaaacagt ttttgtttca actctttttg atagtatctg ttgaaggtat
     3301 caattataaa aaagtactta cttttttcct agagagactc ttcttctcag attcaaagtc
     3361 tcttgtcttt tttttttttt ttttttaaag tttcactttg tagacagtgt tagtgatggc
     3421 tagggatttg atttattttc tttagaccac atagcaaggt atgaattaga gggcttgtgc
     3481 ttggaaactg ggtgacacta tctcatcaga gaggcaggat tgagacttgg actttgagac
     3541 tgaagtcctc agccttccat ggcagcatat cctgtagaag agcttgtcat actgataata
     3601 ggaaaaaagt atgacagaga agcatgttcc caagtccccc atcctctcag cctgtctcct
     3661 tgtgcttaga tgagcattgc atgctcagtg gtgacatcct ggacagaatt ttcatgcacc
     3721 catttgtgct gcctggagaa ggactggctt gctcaggcca ggaggaagac atcacatccc
     3781 tttctgaagg aatgagaaga atctatatga caacttctac ctttgagttg tcaccatccc
     3841 catttccctg ctatggccca cttctgtgtt tgagctgatc agggttatgg gggagaagag
     3901 ctgggaaatg cgccccaggg tggatgcaaa gcacctgtgt tttaagtgcc acctgcaaag
     3961 ggaggcattt ttcaaatctg cctcttgttc cctgtatcct gtggctggag gcgggtcttt
     4021 gagttccctg gctctggggc gagcattcac tgaggatagg cagccttcgt cccagagcca
     4081 gcaggctctg acatttcatg tggggtgtgg agggacatac cccctctctc gcggctgggg
     4141 gtcacggaac atcttagtga acttggctta aatctctgct ccactgtatg tgtcagggga
     4201 ctgggacctc ttggaacctg tctgtgaaat gtagccttca atgcagtaac gcgcacggtg
     4261 acctggcctg taggaagact gccactggtg tggcctcacc tctctggaga caattttgct
     4321 tatctgttaa caaaagttag aggaatcact tgtaaggttg gtgggagacc cagaatttaa
     4381 atattttcca aaagatccca ttggaatatt gcacttttgc tctttgttcg tatggatctg
     4441 tggaggaact gagagctcat aataaaatta tgcagcacca cgtcaggtag aataatttga
     4501 gaaacaatca ctccctaaac gcagtttgtc tttgcctttc atttttttaa tttaagaata
     4561 agtttttttt agaaaaatat agagatgtaa cccaaagaaa ataaagacat aatcagatag
     4621 ccctctgatt ttttgaaaga atagaaataa tatatgcgta tcactaaaaa actcaagcag
     4681 tacagaaaca ttaaaatgaa aagtggaagt tcttcctgct ctcatttttg ttcttaaagg
     4741 tgaatgctgt tatagtcttt tgtgaatctt tccaggaaaa acatgcatgc gggaaaatat
     4801 gtttctgtct atgtgttatt tgaaagtgca cactaatgag ttgtgctgtg cacacacaga
     4861 catgagctga agatctgctc tttgcgtacc accagcttca gctccaatgt acccacttta
     4921 ttctcgtgaa tggatgtcta ttaccgagga tttattaaaa acagggtatt tgtaaagagg
     4981 gccagcttcg tgctttaaat gaataaagac aggattttgt tgtgttcatt attggaggaa
     5041 gtacttgcaa tggattgtaa taacttccct gccaaaggta gctgtttttt ggcaagaagt
     5101 aaggaaaaca aaccaaagga aaggaggatt gaggggcaag aggcatgaag ttttgccctt
     5161 cttgaatatg ccccgagttg ttctacagat cactgaaggg catttgaagg tgtgagggga
     5221 aggcttcctc tcctttggag ggagtcagtc tctctgggcc aggaaagaga catggaggca
     5281 gaggggtgcg ggaaaacctt gtgtgaagaa atactggcta caaataaagt ttagattttc
     5341 aa
//
