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2025-05-09 20:07:03, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_172225 2881 bp mRNA linear PRI 18-JUN-2013 DEFINITION Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 1, mRNA. ACCESSION NM_172225 VERSION NM_172225.1 GI:27436935 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 2881) AUTHORS Miyamoto,T., Yu,Y.S., Sato,H., Hayashi,H., Sakugawa,N., Ishikawa,M. and Sengoku,K. TITLE Mutational analysis of the human MBX gene in four Korean families demonstrating microphthalmia with congenital cataract JOURNAL Turk. J. Pediatr. 49 (3), 334-336 (2007) PUBMED 17990594 REMARK GeneRIF: no indications were found for an association between the MBX gene and microphthalmia with congenital cataract in humans REFERENCE 2 (bases 1 to 2881) AUTHORS Zhang,Y., Miki,T., Iwanaga,T., Koseki,Y., Okuno,M., Sunaga,Y., Ozaki,N., Yano,H., Koseki,H. and Seino,S. TITLE Identification, tissue expression, and functional characterization of Otx3, a novel member of the Otx family JOURNAL J. Biol. Chem. 277 (31), 28065-28069 (2002) PUBMED 12055180 REFERENCE 3 (bases 1 to 2881) AUTHORS Kawahara,A., Chien,C.B. and Dawid,I.B. TITLE The homeobox gene mbx is involved in eye and tectum development JOURNAL Dev. Biol. 248 (1), 107-117 (2002) PUBMED 12142024 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL137797.9. Summary: This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (a). Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript exon combination :: AB037699.1, AF398527.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025085, ERS025088 [ECO:0000350] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-169 AL137797.9 22030-22198 c 170-348 AL137797.9 18540-18718 c 349-697 AL137797.9 17911-18259 c 698-2881 AL137797.9 14968-17151 c FEATURES Location/Qualifiers source 1..2881 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="1" /map="1p33" gene 1..2881 /gene="DMBX1" /gene_synonym="MBX; OTX3; PAXB" /note="diencephalon/mesencephalon homeobox 1" /db_xref="GeneID:127343" /db_xref="HGNC:19026" /db_xref="HPRD:07593" /db_xref="MIM:607410" STS 1..1199 /gene="DMBX1" /gene_synonym="MBX; OTX3; PAXB" /db_xref="UniSTS:481306" exon 1..169 /gene="DMBX1" /gene_synonym="MBX; OTX3; PAXB" /inference="alignment:Splign:1.39.8" misc_feature 1..3 /gene="DMBX1" /gene_synonym="MBX; OTX3; PAXB" /note="upstream in-frame stop codon" variation 5 /gene="DMBX1" /gene_synonym="MBX; OTX3; PAXB" /replace="c" /replace="t" /db_xref="dbSNP:374500772" variation 13 /gene="DMBX1" /gene_synonym="MBX; OTX3; PAXB" /replace="a" /replace="g" /db_xref="dbSNP:370188576" CDS 16..1149 /gene="DMBX1" /gene_synonym="MBX; OTX3; PAXB" /note="isoform a is encoded by transcript variant 1; diencephalon/mesencephalon homeobox protein 1; homeoprotein MBX; paired-like homeobox protein DMBX1; orthodenticle homolog 3" /codon_start=1 /product="diencephalon/mesencephalon homeobox protein 1 isoform a" /protein_id="NP_757379.1" /db_xref="GI:27436936" /db_xref="CCDS:CCDS536.1" /db_xref="GeneID:127343" /db_xref="HGNC:19026" /db_xref="HPRD:07593" /db_xref="MIM:607410" /translation="
MQHYGVNGYSLHAMNSLSAMYNLHQQAAQQAQHAPDYRPSVHALTLAERLADIILEARYGSQHRKQRRSRTAFTAQQLEALEKTFQKTHYPDVVMRERLAMCTNLPEARVQVWFKNRRAKFRKKQRSLQKEQLQKQKEAEGSHGEGKAEAPTPDTQLDTEQPPRLPGSDPPAELHLSLSEQSASESAPEDQPDREEDPRAGAEDPKAEKSPGADSKGLGCKRGSPKADSPGSLTITPVAPGGGLLGPSHSYSSSPLSLFRLQEQFRQHMAATNNLVHYSSFEVGGPAPAAAAAAAAVPYLGVNMAPLGSLHCQSYYQSLSAAAAAHQGVWGSPLLPAPPAGLAPASATLNSKTTSIENLRLRAKQHAASLGLDTLPN
"
misc_feature 214..375
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/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(214..228,232..234,283..285,301..303,340..342,
346..351,358..363,367..375)
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/note="DNA binding site [nucleotide binding]"
/db_xref="CDD:28970"
misc_feature order(220..222,229..231,349..351,358..363,370..372)
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/note="specific DNA base contacts [nucleotide binding];
other site"
/db_xref="CDD:28970"
misc_feature 1063..1122
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/note="OAR domain; Region: OAR; pfam03826"
/db_xref="CDD:146451"
misc_feature 1075..1116
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8NFW5.1);
Region: OAR"
variation 27
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:12567122"
variation 36
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="g"
/db_xref="dbSNP:367639229"
variation 37
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:150745846"
variation 50
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:200210218"
variation 51
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:374758116"
variation 74
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="t"
/db_xref="dbSNP:143983496"
variation 121
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:373771353"
variation 143
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="c"
/db_xref="dbSNP:140704174"
variation 144
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:145308708"
exon 170..348
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/inference="alignment:Splign:1.39.8"
variation 201
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:143266203"
variation 223
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:369165822"
variation 249
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:138324077"
variation 250
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:200150597"
variation 255
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:371280083"
variation 294
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="g"
/replace="t"
/db_xref="dbSNP:61783067"
variation 318
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:146197824"
exon 349..697
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/inference="alignment:Splign:1.39.8"
variation 362
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="c"
/db_xref="dbSNP:74464457"
variation 380
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:370554452"
variation 392
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:114953520"
variation 412
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:149299860"
variation 456
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:372496884"
variation 459
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:12045245"
variation 463
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="g"
/db_xref="dbSNP:145934527"
variation 477
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="t"
/db_xref="dbSNP:200899250"
variation 519
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:151117979"
variation 522
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:376934145"
variation 543
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:199686942"
variation 570
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:114333846"
variation 579
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:1886116"
variation 590
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:375524919"
variation 591
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:147071342"
variation 595
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:367816701"
variation 596
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:372261765"
variation 607
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:115343921"
variation 613
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="g"
/db_xref="dbSNP:34614765"
variation 643
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="t"
/db_xref="dbSNP:373602097"
exon 698..2881
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/inference="alignment:Splign:1.39.8"
variation 716
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:370771109"
variation 717
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:150344066"
variation 750
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:115917561"
variation 758
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:139786857"
variation 760
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="g"
/db_xref="dbSNP:144464601"
variation 774
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="g"
/db_xref="dbSNP:114951731"
variation 795
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:61751016"
variation 834
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:115399725"
variation 859
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:142474862"
variation 868
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="g"
/replace="t"
/db_xref="dbSNP:115396595"
variation 869
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="g"
/db_xref="dbSNP:114486361"
variation 873
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:373688410"
variation 886
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:141010936"
variation 890
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:138584907"
variation 919
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:201908017"
variation 925
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:371865943"
variation 926
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:375031869"
variation 933
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:150752861"
variation 949
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:369755167"
variation 968
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="c"
/db_xref="dbSNP:149421625"
variation 977
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:374555836"
variation 981
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:140036474"
variation 1022
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="g"
/db_xref="dbSNP:199979775"
variation 1059
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="c"
/db_xref="dbSNP:11211298"
variation 1083
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:369949886"
variation 1101
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:200612868"
variation 1113
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:199960312"
variation 1115
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:181379491"
variation 1131
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="g"
/db_xref="dbSNP:142368793"
variation 1136
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:200058413"
variation 1152
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="g"
/db_xref="dbSNP:368955765"
variation 1307
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:112537002"
variation 1389..1390
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace=""
/replace="c"
/db_xref="dbSNP:142758317"
variation 1407
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:12071940"
variation 1480
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:2209172"
variation 1531
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:186803752"
variation 1576
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="g"
/db_xref="dbSNP:114867455"
variation 1615
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:143592398"
variation 1616
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="c"
/db_xref="dbSNP:74410820"
variation 1697
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:371019500"
variation 1715
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:377491264"
variation 1730
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:374155162"
variation 1852
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="c"
/db_xref="dbSNP:200007091"
variation 1868
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:2209171"
variation 1929
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:56393814"
variation 1974
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:372957027"
variation 2066
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="t"
/db_xref="dbSNP:12743451"
variation 2068
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:12760913"
variation 2071
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:147198520"
variation 2205
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:4660355"
variation 2237
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:117377891"
variation 2326
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:7515750"
variation 2346
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:375714215"
variation 2354
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="t"
/db_xref="dbSNP:182212130"
variation 2447
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:140564592"
variation 2472
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:375433020"
variation 2537
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="g"
/db_xref="dbSNP:59809955"
STS 2659..2822
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/standard_name="D1S1425"
/db_xref="UniSTS:149621"
STS 2713..2823
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/standard_name="D10S275"
/db_xref="UniSTS:147992"
variation 2867
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace=""
/replace="c"
/db_xref="dbSNP:146705383"
variation 2868
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace=""
/replace="a"
/db_xref="dbSNP:200104418"
variation 2876
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="t"
/db_xref="dbSNP:7516056"
variation 2877..2878
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace=""
/replace="t"
/db_xref="dbSNP:58074712"
variation 2878..2879
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace=""
/replace="t"
/db_xref="dbSNP:67710812"
variation 2880..2881
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace=""
/replace="at"
/replace="t"
/db_xref="dbSNP:59105548"
variation 2880
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="t"
/db_xref="dbSNP:3059464"
variation 2881
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="t"
/db_xref="dbSNP:71500098"
ORIGIN
taggcggatgccgccatgcagcactacggggtgaacggctactcactgcacgccatgaactcactcagcgccatgtacaacctgcaccagcaggcagcccagcaggcccagcatgcccccgactaccggccttcagtgcatgcgcttacattggctgagcgcctggctgacatcatcttggaggcccgttatggttcccagcaccgcaaacaacgtcgcagccgcacagcgttcacggctcagcagctcgaggccctggaaaagaccttccagaagactcactacccagatgtggtgatgcgtgagaggctggccatgtgcaccaacctgcctgaggcccgggtgcaggtgtggttcaagaaccgccgggccaagttccggaagaagcagcgtagcctgcagaaggaacagctccagaagcagaaggaggctgagggctcccatggggaaggcaaggccgaggcccccactccagatacccagctggacactgagcagcccccacgtctgcctggcagcgacccccctgctgagcttcacctgagtctgtctgagcagtcagccagtgagtcagcccccgaggatcagccggaccgtgaggaggaccccagggcaggggctgaggaccccaaagctgagaagagccctggggctgacagcaaggggctgggctgcaagaggggcagccccaaggcagattccccaggcagcctgaccatcactcctgtggccccagggggtggcctcctgggcccctcccactcctattcctcgtccccgctgagcctcttccgtctgcaggagcaattccgccagcacatggcggccaccaacaacctggtgcactactcgtccttcgaagtagggggtccggcccctgctgctgcagcggcggctgctgctgtgccctacctgggcgtcaacatggccccgctgggctcactgcactgccagtcctactaccagtccctgtcagcagccgctgctgcccaccagggtgtgtgggggtctcctctgctgcctgcacccccagcaggcctggctcctgcatcagctaccctgaacagtaaaaccacaagcatcgagaacctgcggctccgggccaagcagcacgcggcctccctgggactcgatacgctgcccaactgactgtctggcttccaacccagccaggggtcttaggtgtcccctcctagccctgtggttatccctaggtggctctcgaggagttaactccatgagcccagggatcctagggcctggggtcctgttccctgctccgcttccccataccccagcccgaggtgaagcccacacctacacaccctctgcatggccctgcctggaccccatggaggccgaatagggaggaggtgagaggctggggtgccccaagcttccctcggagaagtgagaggctctccctggctagatcctcatctcaatagcacctcctcccttttctccctatccttctgccccctagtaagtctacgtgtggaatgtgagatataaatataaatatataaagctatattttcaggctcctgcctgccccaggccccctgccccactcccatctcttcttccctgccacccctccctgcagcctccgcggctcactccagccatcccttctgtttctccttctctctccttccttcttcccttgatctccctcttcctgtctctgtcctggtccctgcccccgtctcggcccagcctctgtattctccacccttgatctttctccttgtctctcccgctgcccctggtttcttcctttggtgttggctgtgttggtatcatcagttcttgagctatattttgtttggggttgtggctggttttggttttagtaattttgcgacttcccgttgctctccttctattcccttccttctgccctgcctgcctccctgcacctgcggcctctctaggaagctgttcctttctatgcccaatagaagcaacaaggccctagctggagactctggggatctggagctgcaggcaggaggtggcactggctcccactcccacccctgcccaggctggcatctagaaggcgtcatgaattactttctcttctctcttctcaattttgaggtcctcattcccaagattgaggaggcagtagttaatctgggaaggcagtagaatggccagcattcctgcctgtaagtcttcccaagacagaggcccggtgacacagttcagccaggactgaccacagggctctagagctctctttggtgagacttccctggatggagagcagcagcaggggaagaggtgctctcagagacagcagggctggtgctcttctcccacaagctgagcctccacgttcagcagatactgtccaaggcaggggtacggctgaccaggaatgaaggttgaactctgctcctgagcacggtgcgtgcaaagcatatagcagcacataggctcaggcttctgtaggcttcctgtcccagagccaattatggaagtaagggcttccctccagctagtcactggaatggaaaagtgtgttcctgttcatagccaggaaacccagctcagcaaactccctttcaaagctgtgtgaccggctgggcatggtggctcacacctgtaatcccagcactttgggaggccaaggcaggcaatcacctgaggtcaggagttcaagaccagcctggctaacatgtgaaactaataataatacaaaaattagctgggcgtggtggcacatgcctgtaatcccagctacttgggaggctgagttgggaggattgctgcaatctgggaggtggaagttgcagtgagccgagatcatgccactgcactccagcctgggcgacggagtgagactccatctcaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:127343 -> Molecular function: GO:0003677 [DNA binding] evidence: ISS
GeneID:127343 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: ISS
GeneID:127343 -> Molecular function: GO:0042803 [protein homodimerization activity] evidence: IEA
GeneID:127343 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: ISS
GeneID:127343 -> Molecular function: GO:0046982 [protein heterodimerization activity] evidence: IEA
GeneID:127343 -> Biological process: GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] evidence: IEA
GeneID:127343 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
GeneID:127343 -> Biological process: GO:0007417 [central nervous system development] evidence: ISS
GeneID:127343 -> Biological process: GO:0007420 [brain development] evidence: ISS
GeneID:127343 -> Biological process: GO:0008343 [adult feeding behavior] evidence: IEA
GeneID:127343 -> Biological process: GO:0008344 [adult locomotory behavior] evidence: IEA
GeneID:127343 -> Biological process: GO:0045892 [negative regulation of transcription, DNA-dependent] evidence: ISS
GeneID:127343 -> Biological process: GO:0048589 [developmental growth] evidence: ISS
GeneID:127343 -> Cellular component: GO:0005667 [transcription factor complex] evidence: IEA
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