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2025-05-09 20:18:54, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001105574 1074 bp mRNA linear PRI 24-MAR-2013 DEFINITION Homo sapiens H6 family homeobox 3 (HMX3), mRNA. ACCESSION NM_001105574 XM_291716 XM_940542 VERSION NM_001105574.1 GI:157743258 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 1074) AUTHORS Roknic,N., Huber,A., Hegemann,S.C., Hausler,R. and Gurtler,N. TITLE Mutation analysis of Netrin 1 and HMX3 genes in patients with superior semicircular canal dehiscence syndrome JOURNAL Acta Otolaryngol. 132 (10), 1061-1065 (2012) PUBMED 22779713 REMARK GeneRIF: One sequence alteration, heterozygous c.114C->T (conservative change without alteration of amino acid) in exon 1 of HMX3, was detected in 2 of 15 patients with superior semicircular dehiscence syndrome. REFERENCE 2 (bases 1 to 1074) AUTHORS Miller,N.D., Nance,M.A., Wohler,E.S., Hoover-Fong,J.E., Lisi,E., Thomas,G.H. and Pevsner,J. TITLE Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function JOURNAL Am. J. Med. Genet. A 149A (4), 669-680 (2009) PUBMED 19253379 REMARK GeneRIF: propose that hemizygous deletions of HMX2 and HMX3 are responsible for inner ear malformations, vestibular dysfunction, and congenital sensorineural hearing loss REFERENCE 3 (bases 1 to 1074) AUTHORS Deloukas,P., Earthrowl,M.E., Grafham,D.V., Rubenfield,M., French,L., Steward,C.A., Sims,S.K., Jones,M.C., Searle,S., Scott,C., Howe,K., Hunt,S.E., Andrews,T.D., Gilbert,J.G., Swarbreck,D., Ashurst,J.L., Taylor,A., Battles,J., Bird,C.P., Ainscough,R., Almeida,J.P., Ashwell,R.I., Ambrose,K.D., Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Bates,K., Beasley,H., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.C., Burrill,W., Burton,J., Cahill,P., Camire,D., Carter,N.P., Chapman,J.C., Clark,S.Y., Clarke,G., Clee,C.M., Clegg,S., Corby,N., Coulson,A., Dhami,P., Dutta,I., Dunn,M., Faulkner,L., Frankish,A., Frankland,J.A., Garner,P., Garnett,J., Gribble,S., Griffiths,C., Grocock,R., Gustafson,E., Hammond,S., Harley,J.L., Hart,E., Heath,P.D., Ho,T.P., Hopkins,B., Horne,J., Howden,P.J., Huckle,E., Hynds,C., Johnson,C., Johnson,D., Kana,A., Kay,M., Kimberley,A.M., Kershaw,J.K., Kokkinaki,M., Laird,G.K., Lawlor,S., Lee,H.M., Leongamornlert,D.A., Laird,G., Lloyd,C., Lloyd,D.M., Loveland,J., Lovell,J., McLaren,S., McLay,K.E., McMurray,A., Mashreghi-Mohammadi,M., Matthews,L., Milne,S., Nickerson,T., Nguyen,M., Overton-Larty,E., Palmer,S.A., Pearce,A.V., Peck,A.I., Pelan,S., Phillimore,B., Porter,K., Rice,C.M., Rogosin,A., Ross,M.T., Sarafidou,T., Sehra,H.K., Shownkeen,R., Skuce,C.D., Smith,M., Standring,L., Sycamore,N., Tester,J., Thorpe,A., Torcasso,W., Tracey,A., Tromans,A., Tsolas,J., Wall,M., Walsh,J., Wang,H., Weinstock,K., West,A.P., Willey,D.L., Whitehead,S.L., Wilming,L., Wray,P.W., Young,L., Chen,Y., Lovering,R.C., Moschonas,N.K., Siebert,R., Fechtel,K., Bentley,D., Durbin,R., Hubbard,T., Doucette-Stamm,L., Beck,S., Smith,D.R. and Rogers,J. TITLE The DNA sequence and comparative analysis of human chromosome 10 JOURNAL Nature 429 (6990), 375-381 (2004) PUBMED 15164054 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC012391.10 and AW088771.1. On or before Sep 30, 2007 this sequence version replaced gi:89033667, gi:89031637. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments and orthologous data. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-316 AC012391.10 88589-88904 317-550 AW088771.1 1-234 c 551-1074 AC012391.10 89746-90269 FEATURES Location/Qualifiers source 1..1074 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="10" /map="10q26.13" gene 1..1074 /gene="HMX3" /gene_synonym="NKX-5.1; Nkx5-1; NKX5.1" /note="H6 family homeobox 3" /db_xref="GeneID:340784" /db_xref="HGNC:5019" /db_xref="MIM:613380" CDS 1..1074 /gene="HMX3" /gene_synonym="NKX-5.1; Nkx5-1; NKX5.1" /note="homeobox (H6 family) 3; homeo box (H6 family) 3; homeobox protein Nkx-5.1; homeobox protein H6 family member 3" /codon_start=1 /product="homeobox protein HMX3" /protein_id="NP_001099044.1" /db_xref="GI:157743259" /db_xref="CCDS:CCDS41575.1" /db_xref="GeneID:340784" /db_xref="HGNC:5019" /db_xref="MIM:613380" /translation="
MPEPGPDAAGTASAQPQPPPPPPPAPKESPFSIKNLLNGDHHRPPPKPQPPPRTLFAPASAAAAAAAAAAAAAKGALEGAAGFALSQVGDLAFPRFEIPAQRFALPAHYLERSPAWWYPYTLTPAGGHLPRPEASEKALLRDSSPASGTDRDSPEPLLKADPDHKELDSKSPDEIILEESDSEESKKEGEAAPGAAGASVGAAAATPGAEDWKKGAESPEKKPACRKKKTRTVFSRSQVFQLESTFDMKRYLSSSERAGLAASLHLTETQVKIWFQNRRNKWKRQLAAELEAANLSHAAAQRIVRVPILYHENSAAEGAAAAAAGAPVPVSQPLLTFPHPVYYSHPVVSSVPLLRPV
"
misc_feature 682..855
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/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(682..696,700..702,751..753,769..771,808..810,
814..819,826..831,835..843,847..852)
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/note="DNA binding site [nucleotide binding]"
/db_xref="CDD:28970"
misc_feature order(688..690,697..699,817..819,826..831,838..840)
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/note="specific DNA base contacts [nucleotide binding];
other site"
/db_xref="CDD:28970"
exon 1..400
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/inference="alignment:Splign:1.39.8"
variation 25
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373328752"
variation 57
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="a"
/replace="g"
/db_xref="dbSNP:377512600"
variation 67
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="c"
/replace="g"
/db_xref="dbSNP:201289648"
variation 68
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:372130943"
variation 90
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201518175"
variation 141..142
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace=""
/replace="a"
/db_xref="dbSNP:34935232"
variation 244
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="a"
/replace="g"
/db_xref="dbSNP:370405822"
variation 262
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374078073"
variation 280
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="c"
/replace="t"
/db_xref="dbSNP:367615610"
variation 297
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="a"
/replace="g"
/db_xref="dbSNP:370463263"
variation 340
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="c"
/replace="g"
/db_xref="dbSNP:374450904"
STS 349..1040
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/standard_name="Hmx3"
/db_xref="UniSTS:519417"
variation 375
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="c"
/replace="t"
/db_xref="dbSNP:368856725"
variation 387
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="a"
/replace="c"
/db_xref="dbSNP:375516651"
exon 401..1074
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/inference="alignment:Splign:1.39.8"
variation 439
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="g"
/replace="t"
/db_xref="dbSNP:199720543"
variation 446
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="a"
/replace="c"
/db_xref="dbSNP:371952740"
variation 454
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="g"
/replace="t"
/db_xref="dbSNP:201882443"
variation 462
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376174176"
variation 467
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="a"
/replace="c"
/db_xref="dbSNP:141319322"
variation 471
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="g"
/replace="t"
/db_xref="dbSNP:373078925"
variation 498
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="a"
/replace="g"
/db_xref="dbSNP:375092158"
variation 569
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="a"
/replace="g"
/db_xref="dbSNP:187759881"
variation 579
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373545765"
variation 619
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="c"
/replace="t"
/db_xref="dbSNP:376174025"
variation 644
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="a"
/replace="g"
/db_xref="dbSNP:45492702"
variation 645
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="c"
/replace="g"
/db_xref="dbSNP:376762346"
variation 704
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="c"
/replace="t"
/db_xref="dbSNP:372769291"
variation 705
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="c"
/replace="g"
/db_xref="dbSNP:76168984"
variation 711
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="c"
/replace="g"
/db_xref="dbSNP:377194232"
variation 726
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="a"
/replace="c"
/db_xref="dbSNP:372099696"
variation 790
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="c"
/replace="t"
/db_xref="dbSNP:60720577"
variation 795
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="c"
/replace="g"
/db_xref="dbSNP:113592150"
variation 813
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="c"
/replace="t"
/db_xref="dbSNP:78832781"
variation 861
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="a"
/replace="g"
/db_xref="dbSNP:74532659"
variation 864
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="c"
/replace="g"
/db_xref="dbSNP:79318388"
variation 883
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="c"
/replace="t"
/db_xref="dbSNP:367873409"
variation 909
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="c"
/replace="g"
/db_xref="dbSNP:200581042"
variation 976
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="a"
/replace="g"
/db_xref="dbSNP:371335454"
variation 979
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="c"
/replace="t"
/db_xref="dbSNP:61736861"
variation 1014
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376206377"
variation 1048..1049
/gene="HMX3"
/gene_synonym="NKX-5.1; Nkx5-1; NKX5.1"
/replace=""
/replace="a"
/db_xref="dbSNP:34959303"
ORIGIN
atgccggaacccgggccggacgctgccggcaccgccagcgcacagccccaaccgccgccgccccccccacccgctcccaaggagtccccgttctccatcaagaacctgctcaacggagaccaccaccggccgccccctaagcctcagccgcccccacggacgctcttcgcgccagcctcggctgccgccgccgccgccgctgccgctgccgcggcggccaagggggccctggagggcgccgcgggcttcgcgctctcgcaggtgggcgacctggctttccctcgctttgagatcccggcgcagaggtttgccctgcccgcgcactacctggagcgctccccagcctggtggtacccctacaccctgacccccgccggcggccacctcccgcgacctgaagcctcggagaaggccttgctgagagactcctcccccgcctccggcacagaccgcgactctccggagccactgctcaaggccgaccccgatcacaaggagctggactccaagagcccggacgagatcattctggaggagagcgactccgaggaaagcaaaaaggaaggcgaagcggcgccaggcgcggccggggcgagcgtaggggcggcggcggccactccgggcgcagaagactggaagaagggcgctgaaagtccagagaagaagccggcgtgccgcaagaagaagacgcgcacagtcttctcgcgcagccaggtcttccagctcgagtccaccttcgacatgaagcgctatctgagcagctcggagcgagccggcctggccgcgtccctgcacctcaccgagacgcaggtcaagatctggttccagaaccgccgcaacaagtggaagcggcagctggcggcggagctggaggcggccaacctgagccatgccgcggcgcagcgcatcgtgcgggtgcccatcctctaccacgagaactcggcggccgagggcgcggcggctgcagccgcgggggccccggtgccagtcagccagccgctgctcaccttcccgcaccccgtctactactcgcacccggtggtctcttccgtgccgctgctacggccggtctga
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:340784 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
GeneID:340784 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
GeneID:340784 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
GeneID:340784 -> Biological process: GO:0007420 [brain development] evidence: IEA
GeneID:340784 -> Biological process: GO:0007566 [embryo implantation] evidence: IEA
GeneID:340784 -> Biological process: GO:0030154 [cell differentiation] evidence: IEA
GeneID:340784 -> Biological process: GO:0042472 [inner ear morphogenesis] evidence: IEA
GeneID:340784 -> Biological process: GO:0050885 [neuromuscular process controlling balance] evidence: IEA
GeneID:340784 -> Biological process: GO:0060135 [maternal process involved in female pregnancy] evidence: IEA
GeneID:340784 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
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@meso_cacase at
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