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2025-05-09 19:49:40, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001134462 1448 bp mRNA linear PRI 18-APR-2013 DEFINITION Homo sapiens notochord homeobox (NOTO), mRNA. ACCESSION NM_001134462 XM_001719354 XM_292889 XM_941998 VERSION NM_001134462.1 GI:197333836 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 1448) AUTHORS Hillier,L.W., Graves,T.A., Fulton,R.S., Fulton,L.A., Pepin,K.H., Minx,P., Wagner-McPherson,C., Layman,D., Wylie,K., Sekhon,M., Becker,M.C., Fewell,G.A., Delehaunty,K.D., Miner,T.L., Nash,W.E., Kremitzki,C., Oddy,L., Du,H., Sun,H., Bradshaw-Cordum,H., Ali,J., Carter,J., Cordes,M., Harris,A., Isak,A., van Brunt,A., Nguyen,C., Du,F., Courtney,L., Kalicki,J., Ozersky,P., Abbott,S., Armstrong,J., Belter,E.A., Caruso,L., Cedroni,M., Cotton,M., Davidson,T., Desai,A., Elliott,G., Erb,T., Fronick,C., Gaige,T., Haakenson,W., Haglund,K., Holmes,A., Harkins,R., Kim,K., Kruchowski,S.S., Strong,C.M., Grewal,N., Goyea,E., Hou,S., Levy,A., Martinka,S., Mead,K., McLellan,M.D., Meyer,R., Randall-Maher,J., Tomlinson,C., Dauphin-Kohlberg,S., Kozlowicz-Reilly,A., Shah,N., Swearengen-Shahid,S., Snider,J., Strong,J.T., Thompson,J., Yoakum,M., Leonard,S., Pearman,C., Trani,L., Radionenko,M., Waligorski,J.E., Wang,C., Rock,S.M., Tin-Wollam,A.M., Maupin,R., Latreille,P., Wendl,M.C., Yang,S.P., Pohl,C., Wallis,J.W., Spieth,J., Bieri,T.A., Berkowicz,N., Nelson,J.O., Osborne,J., Ding,L., Meyer,R., Sabo,A., Shotland,Y., Sinha,P., Wohldmann,P.E., Cook,L.L., Hickenbotham,M.T., Eldred,J., Williams,D., Jones,T.A., She,X., Ciccarelli,F.D., Izaurralde,E., Taylor,J., Schmutz,J., Myers,R.M., Cox,D.R., Huang,X., McPherson,J.D., Mardis,E.R., Clifton,S.W., Warren,W.C., Chinwalla,A.T., Eddy,S.R., Marra,M.A., Ovcharenko,I., Furey,T.S., Miller,W., Eichler,E.E., Bork,P., Suyama,M., Torrents,D., Waterston,R.H. and Wilson,R.K. TITLE Generation and annotation of the DNA sequences of human chromosomes 2 and 4 JOURNAL Nature 434 (7034), 724-731 (2005) PUBMED 15815621 REFERENCE 2 (bases 1 to 1448) AUTHORS Abdelkhalek,H.B., Beckers,A., Schuster-Gossler,K., Pavlova,M.N., Burkhardt,H., Lickert,H., Rossant,J., Reinhardt,R., Schalkwyk,L.C., Muller,I., Herrmann,B.G., Ceolin,M., Rivera-Pomar,R. and Gossler,A. TITLE The mouse homeobox gene Not is required for caudal notochord development and affected by the truncate mutation JOURNAL Genes Dev. 18 (14), 1725-1736 (2004) PUBMED 15231714 COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from AK295936.1. On or before Sep 4, 2008 this sequence version replaced gi:169164049, gi:88955180, gi:51460702. ##Evidence-Data-START## Transcript exon combination :: AK295936.1, AK316410.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1448 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2p13.2" gene 1..1448 /gene="NOTO" /note="notochord homeobox" /db_xref="GeneID:344022" /db_xref="HGNC:31839" exon 1..791 /gene="NOTO" /inference="alignment:Splign:1.39.8" variation 54..56 /gene="NOTO" /replace="" /replace="aag" /db_xref="dbSNP:200690845" variation 176 /gene="NOTO" /replace="c" /replace="t" /db_xref="dbSNP:376444482" variation 209 /gene="NOTO" /replace="a" /replace="c" /db_xref="dbSNP:370757843" variation 357 /gene="NOTO" /replace="g" /replace="t" /db_xref="dbSNP:60009779" CDS 410..1165 /gene="NOTO" /note="notochord homolog" /codon_start=1 /product="homeobox protein notochord" /protein_id="NP_001127934.1" /db_xref="GI:197333837" /db_xref="CCDS:CCDS46335.1" /db_xref="GeneID:344022" /db_xref="HGNC:31839" /translation="
MPSPRPRGSPPPAPSGSRVRPPRSGRSPAPRSPTGPNTPRAPGRFESPFSVEAILARPDPCAPAASQPSGSACVHPAFWTAASLCATGGLPWACPTSWLPAYLSVGFYPVPGPRVAPVCGLLGFGVTGLELAHCSGLWAFPDWAPTEDLQDTERQQKRVRTMFNLEQLEELEKVFAKQHNLVGKKRAQLAARLKLTENQVRVWFQNRRVKYQKQQKLRAAVTSAEAASLDEPSSSSIASIQSDDAESGVDG
"
misc_feature 878..1054
/gene="NOTO"
/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(878..892,896..898,947..949,965..967,1004..1006,
1010..1015,1022..1027,1031..1039,1043..1048)
/gene="NOTO"
/note="DNA binding site [nucleotide binding]"
/db_xref="CDD:28970"
misc_feature order(884..886,893..895,1013..1015,1022..1027,1034..1036)
/gene="NOTO"
/note="specific DNA base contacts [nucleotide binding];
other site"
/db_xref="CDD:28970"
variation 423
/gene="NOTO"
/replace="c"
/replace="g"
/db_xref="dbSNP:1864492"
variation 491
/gene="NOTO"
/replace="c"
/replace="g"
/db_xref="dbSNP:199642782"
variation 495
/gene="NOTO"
/replace="c"
/replace="t"
/db_xref="dbSNP:111611158"
variation 699
/gene="NOTO"
/replace="c"
/replace="t"
/db_xref="dbSNP:114247644"
variation 736
/gene="NOTO"
/replace="g"
/replace="t"
/db_xref="dbSNP:148083845"
exon 792..1006
/gene="NOTO"
/inference="alignment:Splign:1.39.8"
variation 846
/gene="NOTO"
/replace="c"
/replace="t"
/db_xref="dbSNP:371162071"
variation 850
/gene="NOTO"
/replace="a"
/replace="g"
/db_xref="dbSNP:377208204"
variation 865
/gene="NOTO"
/replace="c"
/replace="t"
/db_xref="dbSNP:17008862"
variation 870
/gene="NOTO"
/replace="a"
/replace="g"
/db_xref="dbSNP:139177410"
variation 901
/gene="NOTO"
/replace="c"
/replace="g"
/db_xref="dbSNP:13418681"
variation 922
/gene="NOTO"
/replace="a"
/replace="g"
/db_xref="dbSNP:376416587"
variation 942
/gene="NOTO"
/replace="a"
/replace="g"
/db_xref="dbSNP:371155152"
variation 947
/gene="NOTO"
/replace="a"
/replace="g"
/db_xref="dbSNP:147100544"
exon 1007..1448
/gene="NOTO"
/inference="alignment:Splign:1.39.8"
variation 1051
/gene="NOTO"
/replace="a"
/replace="g"
/db_xref="dbSNP:112634793"
variation 1119
/gene="NOTO"
/replace="a"
/replace="t"
/db_xref="dbSNP:372916128"
variation 1124
/gene="NOTO"
/replace="a"
/replace="g"
/db_xref="dbSNP:373915911"
variation 1145
/gene="NOTO"
/replace="a"
/replace="g"
/db_xref="dbSNP:192237334"
variation 1337
/gene="NOTO"
/replace="c"
/replace="t"
/db_xref="dbSNP:377356858"
variation 1379
/gene="NOTO"
/replace="c"
/replace="t"
/db_xref="dbSNP:79263212"
variation 1381
/gene="NOTO"
/replace="a"
/replace="t"
/db_xref="dbSNP:10184355"
variation 1388..1389
/gene="NOTO"
/replace=""
/replace="g"
/db_xref="dbSNP:36050629"
variation 1399
/gene="NOTO"
/replace="c"
/replace="g"
/db_xref="dbSNP:144035887"
ORIGIN
agctccgcctctgcaaggccccggggaaacgggcatcccttcttcagtgagcaaaggagaaagacggagcccggtggctgggtgtttcgcccaggatcaccagcgagctcagagtcctccccacgaccgccccagggtgggcatttttaaaagcggaggaagggagggaacacactctttggtgctgtgcccaccttgcctcgcacagagcgggcgctcacaggctttgggggccccgcccggaccgcagtggggagaggccgccccatgccccgccccgccaaatttaagagccttcgccgagcgccaggaggttcccagacaaccggtcttgctcgctgccttttgcagaatcttctcacttctcccgagctcccttccttgcgtccgtccgggcaacggccgcgtcatgcctagccccaggccgcgaggcagcccgccacccgctccctcgggctctcgggtccgacctccgcgctctggccgctctccggcgcccaggtcccctactggcccgaacacgccccgcgctcccggacgcttcgagtcccctttctcggtcgaggccatcctggcgaggcccgacccctgcgcgccggcggcctcccagccgtcgggctccgcctgcgtccacccggccttctggaccgctgcttccctgtgcgccaccgggggtctgccctgggcttgcccgacatcgtggctgcccgcctacctgagcgtaggtttttaccctgtgccagggccgcgcgtggctcccgtctgcggcctgctgggcttcggcgtcacagggttggagctggctcactgctcaggactctgggccttcccagactgggccccaacggaggacctacaggacactgagagacagcaaaagagagtccgaactatgtttaacttggagcagctggaagagttggagaaagtgtttgcaaaacagcacaatctggtggggaagaagagagcccagctggcagctcggctcaaacttacagagaaccaggtgagagtctggttccagaaccgcagggtcaagtatcagaagcagcaaaagctgagggcagcagttacatctgccgaggctgcctccctggatgagccttccagcagctccatcgccagtatccagagtgatgatgccgagtcaggagtggacggctgaagactgggacagaggccctagccaggctgcctggactagttcctcctgggggtacccactggagctccctgcctcacacctcaacgaaaagcctcctcaaccagaagaatctgagctgtcaagcagggacccccttttctatactgattcctggaaactggaataatgtaatgattggaggcacagactctggccttcagctatgtccttggccaacctatggaacttccgagccttttttctttatctgtataatgggtgcattcataacttagatcaccca
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:344022 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
GeneID:344022 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
GeneID:344022 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
GeneID:344022 -> Biological process: GO:0007368 [determination of left/right symmetry] evidence: IEA
GeneID:344022 -> Biological process: GO:0009880 [embryonic pattern specification] evidence: IEA
GeneID:344022 -> Biological process: GO:0009953 [dorsal/ventral pattern formation] evidence: IEA
GeneID:344022 -> Biological process: GO:0030903 [notochord development] evidence: IEA
GeneID:344022 -> Biological process: GO:0060271 [cilium morphogenesis] evidence: IEA
GeneID:344022 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
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