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2024-03-29 21:21:43, 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:

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

by @meso_cacase at DBCLS
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