2025-05-09 19:24:15, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001012729 3346 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens double homeobox A (DUXA), mRNA. ACCESSION NM_001012729 VERSION NM_001012729.1 GI:61969661 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 3346) AUTHORS Dolmans,G.H., Werker,P.M., Hennies,H.C., Furniss,D., Festen,E.A., Franke,L., Becker,K., van der Vlies,P., Wolffenbuttel,B.H., Tinschert,S., Toliat,M.R., Nothnagel,M., Franke,A., Klopp,N., Wichmann,H.E., Nurnberg,P., Giele,H., Ophoff,R.A. and Wijmenga,C. CONSRTM Dutch Dupuytren Study Group; German Dupuytren Study Group; LifeLines Cohort Study; BSSH-GODD Consortium TITLE Wnt signaling and Dupuytren's disease JOURNAL N. Engl. J. Med. 365 (4), 307-317 (2011) PUBMED 21732829 REFERENCE 2 (bases 1 to 3346) AUTHORS Booth,H.A. and Holland,P.W. TITLE Annotation, nomenclature and evolution of four novel homeobox genes expressed in the human germ line JOURNAL Gene 387 (1-2), 7-14 (2007) PUBMED 17005330 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. This record has been curated by NCBI staff in collaboration with Anne Booth and Peter Holland. The reference sequence was derived from AC025588.1. Summary: Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the DUXA homeobox gene family. Evidence of mRNA expression has not yet been found for this gene. Multiple, related processed pseudogenes have been found which are thought to reflect expression of this gene in the germ line or embryonic cells. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## RNAseq introns :: mixed/partial sample support ERS025084, ERS025088 [ECO:0000350] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-70 AC025588.1 109933-110002 c 71-225 AC025588.1 103157-103311 c 226-337 AC025588.1 101681-101792 c 338-483 AC025588.1 100842-100987 c 484-589 AC025588.1 97781-97886 c 590-3346 AC025588.1 94240-96996 c FEATURES Location/Qualifiers source 1..3346 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="19" /map="19q13.43" gene 1..3346 /gene="DUXA" /note="double homeobox A" /db_xref="GeneID:503835" /db_xref="HGNC:32179" /db_xref="HPRD:10619" /db_xref="MIM:611168" exon 1..70 /gene="DUXA" /inference="alignment:Splign:1.39.8" variation complement(25) /gene="DUXA" /replace="c" /replace="g" /db_xref="dbSNP:374231046" variation complement(26) /gene="DUXA" /replace="a" /replace="c" /db_xref="dbSNP:60097448" CDS 46..660 /gene="DUXA" /codon_start=1 /product="double homeobox protein A" /protein_id="NP_001012747.1" /db_xref="GI:61969662" /db_xref="CCDS:CCDS33126.1" /db_xref="GeneID:503835" /db_xref="HGNC:32179" /db_xref="HPRD:10619" /db_xref="MIM:611168" /translation="
MAEDTYSHKMVKTNHRRCRTKFTEEQLKILINTFNQKPYPGYATKQKLALEINTEESRIQIWFQNRRARHGFQKRPEAETLESSQSQGQDQPGVEFQSREARRCRTTYSASQLHTLIKAFMKNPYPGIDSREELAKEIGVPESRVQIWFQNRRSRLLLQRKREPVASLEQEEQGKIPEGLQGAEDTQNGTNFTSDSHFSGARTW
" misc_feature 91..267 /gene="DUXA" /note="Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner; Region: homeodomain; cd00086" /db_xref="CDD:28970" misc_feature order(91..105,109..111,160..162,178..180,217..219, 223..228,235..240,244..252,256..261) /gene="DUXA" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(97..99,106..108,226..228,235..240,247..249) /gene="DUXA" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" misc_feature 349..513 /gene="DUXA" /note="Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner; Region: homeodomain; cd00086" /db_xref="CDD:28970" misc_feature order(349..363,367..369,418..420,436..438,475..477, 481..486,493..498,502..510) /gene="DUXA" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(355..357,364..366,484..486,493..498,505..507) /gene="DUXA" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" variation complement(56) /gene="DUXA" /replace="a" /replace="t" /db_xref="dbSNP:371288856" variation complement(68) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:113215213" exon 71..225 /gene="DUXA" /inference="alignment:Splign:1.39.8" variation complement(84) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:371673960" variation complement(90) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:372575059" variation complement(94) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:369191089" variation complement(101) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:202088667" variation complement(121) /gene="DUXA" /replace="c" /replace="g" /db_xref="dbSNP:144329847" variation complement(207) /gene="DUXA" /replace="a" /replace="c" /db_xref="dbSNP:376232477" exon 226..337 /gene="DUXA" /inference="alignment:Splign:1.39.8" variation complement(255) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:368587814" variation complement(256) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:200454436" variation complement(263) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:143443432" variation complement(302) /gene="DUXA" /replace="g" /replace="t" /db_xref="dbSNP:150407533" variation complement(336) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:139535837" exon 338..483 /gene="DUXA" /inference="alignment:Splign:1.39.8" variation complement(352) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:140589597" variation complement(353) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:146886967" variation complement(358) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:145101590" variation complement(374) /gene="DUXA" /replace="a" /replace="c" /db_xref="dbSNP:371962814" variation complement(393) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:79672731" variation complement(394) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:368196571" variation complement(417) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:146693789" variation complement(444) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:202190836" exon 484..589 /gene="DUXA" /inference="alignment:Splign:1.39.8" variation complement(543) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:370297842" variation complement(577) /gene="DUXA" /replace="c" /replace="g" /db_xref="dbSNP:144291179" variation complement(580) /gene="DUXA" /replace="g" /replace="t" /db_xref="dbSNP:376483102" exon 590..3346 /gene="DUXA" /inference="alignment:Splign:1.39.8" variation complement(592) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:148640515" variation complement(604) /gene="DUXA" /replace="c" /replace="g" /db_xref="dbSNP:144874497" variation complement(618) /gene="DUXA" /replace="" /replace="c" /db_xref="dbSNP:151293806" variation complement(667) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:371626940" variation complement(690) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:8108591" variation complement(705) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:186313853" variation complement(716) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:373609249" variation complement(816) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:376563428" variation complement(840) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:118102912" variation complement(849) /gene="DUXA" /replace="a" /replace="t" /db_xref="dbSNP:117319770" variation complement(888) /gene="DUXA" /replace="" /replace="g" /db_xref="dbSNP:368077522" variation complement(937) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:181532324" variation complement(954) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:189084189" variation complement(957) /gene="DUXA" /replace="" /replace="a" /db_xref="dbSNP:113063268" variation complement(1095) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:10416425" variation complement(1124) /gene="DUXA" /replace="a" /replace="t" /db_xref="dbSNP:146529276" variation complement(1167) /gene="DUXA" /replace="c" /replace="g" /db_xref="dbSNP:11882189" variation complement(1174) /gene="DUXA" /replace="c" /replace="g" /db_xref="dbSNP:184307856" variation complement(1185) /gene="DUXA" /replace="" /replace="a" /db_xref="dbSNP:35665114" variation complement(1185) /gene="DUXA" /replace="a" /replace="c" /db_xref="dbSNP:202000984" variation complement(1230) /gene="DUXA" /replace="g" /replace="t" /db_xref="dbSNP:191320556" variation complement(1251) /gene="DUXA" /replace="a" /replace="t" /db_xref="dbSNP:114702643" variation complement(1485) /gene="DUXA" /replace="c" /replace="g" /db_xref="dbSNP:189149771" variation complement(1491) /gene="DUXA" /replace="g" /replace="t" /db_xref="dbSNP:114163951" variation complement(1526) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:10413918" variation complement(1547) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:59031058" variation complement(1582) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:149946519" variation complement(1603) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:371035586" variation complement(1625) /gene="DUXA" /replace="a" /replace="t" /db_xref="dbSNP:10413522" variation complement(1630..1631) /gene="DUXA" /replace="" /replace="a" /db_xref="dbSNP:201409122" variation complement(1672) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:10408155" STS 1674..2571 /gene="DUXA" /standard_name="GDB:434012" /db_xref="UniSTS:157204" variation complement(1694) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:370812059" variation complement(1699) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:184873559" variation complement(1708..1709) /gene="DUXA" /replace="" /replace="g" /db_xref="dbSNP:34442224" variation complement(1747) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:192065272" variation complement(1790) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:10409705" variation complement(1802) /gene="DUXA" /replace="" /replace="aa" /db_xref="dbSNP:78726645" variation complement(1812) /gene="DUXA" /replace="a" /replace="c" /db_xref="dbSNP:58780404" variation complement(1813) /gene="DUXA" /replace="" /replace="c" /db_xref="dbSNP:138437269" variation complement(1870) /gene="DUXA" /replace="c" /replace="g" /db_xref="dbSNP:58531707" variation complement(1887) /gene="DUXA" /replace="a" /replace="t" /db_xref="dbSNP:114793229" variation complement(1888) /gene="DUXA" /replace="a" /replace="c" /db_xref="dbSNP:188803661" variation complement(1892) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:115593205" variation complement(1959) /gene="DUXA" /replace="a" /replace="t" /db_xref="dbSNP:139693278" variation complement(1962) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:372864985" variation complement(2045) /gene="DUXA" /replace="c" /replace="g" /db_xref="dbSNP:182907386" variation complement(2083) /gene="DUXA" /replace="c" /replace="g" /db_xref="dbSNP:192863725" variation complement(2159) /gene="DUXA" /replace="a" /replace="c" /db_xref="dbSNP:188030915" variation complement(2193) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:151029009" STS 2231..2340 /gene="DUXA" /standard_name="D8S2278" /db_xref="UniSTS:473906" variation complement(2248) /gene="DUXA" /replace="" /replace="aa" /db_xref="dbSNP:77340287" variation complement(2259) /gene="DUXA" /replace="a" /replace="t" /db_xref="dbSNP:11670548" variation complement(2260) /gene="DUXA" /replace="" /replace="t" /db_xref="dbSNP:201850912" variation complement(2288) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:112237934" STS 2290..2372 /gene="DUXA" /standard_name="L18426" /db_xref="UniSTS:34648" STS 2292..2394 /gene="DUXA" /standard_name="D11S2921" /db_xref="UniSTS:152074" STS 2298..2387 /gene="DUXA" /standard_name="PMC156606P1" /db_xref="UniSTS:271408" STS 2312..2571 /gene="DUXA" /standard_name="GDB:434012" /db_xref="UniSTS:157204" STS 2372..2579 /gene="DUXA" /standard_name="D3S1673" /db_xref="UniSTS:148450" variation complement(2404) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:147478001" variation complement(2417) /gene="DUXA" /replace="a" /replace="c" /db_xref="dbSNP:79934633" variation complement(2418) /gene="DUXA" /replace="a" /replace="c" /db_xref="dbSNP:76052155" variation complement(2425..2426) /gene="DUXA" /replace="" /replace="aag" /db_xref="dbSNP:59343566" variation complement(2425) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:28432835" variation complement(2428..2429) /gene="DUXA" /replace="" /replace="aag" /db_xref="dbSNP:34412606" variation complement(2456) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:143263343" variation complement(2484) /gene="DUXA" /replace="a" /replace="c" /db_xref="dbSNP:140913588" variation complement(2568) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:144397399" variation complement(2575) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:182113623" variation complement(2591) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:149628992" variation complement(2601) /gene="DUXA" /replace="g" /replace="t" /db_xref="dbSNP:115556710" variation complement(2646) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:7245501" variation complement(2648) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:76389028" variation complement(2704) /gene="DUXA" /replace="a" /replace="t" /db_xref="dbSNP:189850651" variation complement(2731) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:186424490" variation complement(2738) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:117805377" variation complement(2771) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:183536037" variation complement(2785) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:369840725" variation complement(2915) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:190570118" variation complement(2940) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:187079683" variation complement(2953) /gene="DUXA" /replace="g" /replace="t" /db_xref="dbSNP:113194913" variation complement(3008) /gene="DUXA" /replace="a" /replace="c" /db_xref="dbSNP:150305399" variation complement(3065) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:10154520" variation complement(3100) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:73631790" variation complement(3124) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:373973261" variation complement(3132) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:369171430" variation complement(3134) /gene="DUXA" /replace="c" /replace="g" /db_xref="dbSNP:2843323" variation complement(3134) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:141137469" variation complement(3230) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:138624743" variation complement(3248) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:181806887" variation complement(3249) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:144663690" variation complement(3256) /gene="DUXA" /replace="c" /replace="t" /db_xref="dbSNP:377758680" variation complement(3257) /gene="DUXA" /replace="a" /replace="g" /db_xref="dbSNP:189688413" ORIGIN
cttgtctcccagacagtggctcagccttcaggactctcttccagcatggccgaagacacctattcacacaagatggtaaaaacaaatcataggcgctgtcgcacaaaattcacagaagaacagttgaaaatcctcatcaataccttcaatcaaaagccttacccaggttatgctaccaaacaaaaacttgctttagaaatcaatacagaagagtccagaatccagatttggtttcagaatcgaagagctaggcacggattccagaaaagaccagaagctgagactttagaatcaagccagagccaggggcaagatcaacctggtgtggagtttcaaagtagagaagccagacggtgtcgtaccacctacagcgcctctcagttacacactctcatcaaggcatttatgaaaaacccatatcctgggattgattccagagaagaacttgctaaagaaatcggtgttccagagtcaagagtccaaatttggttccaaaatcgaagatctagattacttctccagagaaaaagggaacctgtggcgtccttagaacaagaagagcagggcaagattcctgagggactgcaaggtgcagaagatacacaaaatggcaccaacttcactagtgactctcatttctctggagccagaacgtggtgaacacagtcaaattcagtgtacttgataatatcaactggaccccaaatctgtctcacggtcttcctgggagtctatccttctgctgaaactgcaagctaagccttctgaagatggtaaaggacttggccagatgtggtgggtcacacttgtaatcccactactttgggaggccaaggcaggaagattgcttgagctcaggagtttgaaaccagcctggacaacatatagcaagactctgcctctattataaaaaaacaaaataaatgaaaaggactgtaggaggcagagacgggtacagggggtaccacactaccctgttgacacagcctagatccagagttcagaagaccttgagacaatgaaaataaacttggtaataatcttttttcaatcatcacagtaattattgatttgtacaaaaatcacttgacgtcataaccttaaagtgacactgctctgcctatggagtagccgttcttttattcctttactttcttaacaaatttgctttcacttaaaaaaaaacctttaagttcaaggaagaacaagatatatacttcatctcaaaagaatctactcacacacacttattaattacaaaaggaaaatcagtaattttgcagcagagaaatatggccaactccaccttaaccaagtggctgaaagtcactgcaccagtaatggcacaaaccaatgtgagatgcttcctgatatgatacagtaagaaggccacagtctcttctgcgtgttagtgacaaaaagtgggtaagctgaaactaataattaggcaatgtcaagtgaacacaaattcaggatgacagactgcaaagtaacatccatgtattcttcaacaatggattgatcagggctactcagaaggctgaggcggaaggattgcttgaggccaggagttccagatcaacctgggcaacatgatgagaccccatctctacaaacaattttttaaaaatgagccaggtgtggtagtgtgcatctgtagtctcagcaacttaggagcctgaggcaggagaatggtttgaacacagggatggtgaggctgcagtgagctatgatcgtgctactgcactccagcctgggcgacacagcaagttcttgtttccaaacaacaacaaaacaaaacaaaaaaaaaaccggatagaataatgaccaaaaaatggagaaaaagtaggctgactcaggaaacacttagaaagtacagccatacctcaaagatattgtggattgggttgcagcccaccacaataaagcaaatattgctataaagtgagtcacaaaaatggttttgtttccttgtgaatataaagttacattggctgggtgtggtggctcatgcctataatcccagtactttaggacatggaagggggaggatcacttgagaccaggagttgtgaggtcaacctgggcaatatagggagatcctgtctctatttaaaaaaagaagttatggccgggcgcggtggctcatgcctgtaataccagcactttgggaggcggaggcgggcagatcgcgaggtcaggagatcgagaccatcctggctaacgtggagaaaccccgtctctactaaaaaaaaaaattacaaaaaattagccgggcatggtagcaggtgcctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacctgggaggcggagcttgcagtgagccaagatcgcgccactgcactccagcctgggtggccgagcgagactccctctcaaaaaaaaaagttacatttacactacactacactgtagtctaataaagtgtaaaatggtgttatgtctaggaaacaaggcacatactttaattttaaaacacttgatgctggctgggtggggtgactcacgcctgtaatcccagcactttgggaggccgaggcaggtggattgcttgagctcagcctggacaacatggcaaaaccccatctattaaaagaaaaaatacctgatgcccttatttgaagctccattattttttaaaaagaaattatataaaaatactttattgctaaaaatactaataatgatcttagccttcagggagtcgtaatcttttttgctggtgaggagtcttgcctcaatgtcattggctgctggctgataagggtggtggttgctaaatattgaagtggttgtaacaatttgttaaaacaacaatgaaatttaccacattaactgacgcttccttccacgaaagatttctctggaacatgagatgttgtttgatagcattttacccataatagaacttctttcaaaattggagccaatcctctcaaaccctgccactgctttcttaactacgtgcgtcaatattgtaaatcctctgttgtagtttaaacagcgttcacagcatcttcaccaggagtaaattccacctcatgaaaccactttcgaggctccttctggactgtggcgttctttccaggctaccttgtggcaatttgagagtctggcatcgttttccgccaggacccaaagatccaggaggcacttgtgactagcctgccaatggacccatgacaaaagtttaacctaaccttcatccgagtcttcgcaaatgctcactgaagaaaattcctaagacaattcaggggcctctcataccctctactgtgagatgttactaaagaaccttagtaactt
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:503835 -> Molecular function: GO:0000976 [transcription regulatory region sequence-specific DNA binding] evidence: IEA GeneID:503835 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA GeneID:503835 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA GeneID:503835 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
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