2025-05-09 20:29:59, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_173576 3658 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA. ACCESSION NM_173576 VERSION NM_173576.2 GI:178057336 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 3658) AUTHORS Ovsyannikova,I.G., Kennedy,R.B., O'Byrne,M., Jacobson,R.M., Pankratz,V.S. and Poland,G.A. TITLE Genome-wide association study of antibody response to smallpox vaccine JOURNAL Vaccine 30 (28), 4182-4189 (2012) PUBMED 22542470 REFERENCE 2 (bases 1 to 3658) AUTHORS Liu,W., Watson,S.S., Lan,Y., Keene,D.R., Ovitt,C.E., Liu,H., Schweitzer,R. and Jiang,R. TITLE The atypical homeodomain transcription factor Mohawk controls tendon morphogenesis JOURNAL Mol. Cell. Biol. 30 (20), 4797-4807 (2010) PUBMED 20696843 REFERENCE 3 (bases 1 to 3658) AUTHORS Ito,Y., Toriuchi,N., Yoshitaka,T., Ueno-Kudoh,H., Sato,T., Yokoyama,S., Nishida,K., Akimoto,T., Takahashi,M., Miyaki,S. and Asahara,H. TITLE The Mohawk homeobox gene is a critical regulator of tendon differentiation JOURNAL Proc. Natl. Acad. Sci. U.S.A. 107 (23), 10538-10542 (2010) PUBMED 20498044 REFERENCE 4 (bases 1 to 3658) AUTHORS Jugessur,A., Shi,M., Gjessing,H.K., Lie,R.T., Wilcox,A.J., Weinberg,C.R., Christensen,K., Boyles,A.L., Daack-Hirsch,S., Nguyen,T.T., Christiansen,L., Lidral,A.C. and Murray,J.C. TITLE Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia JOURNAL PLoS ONE 5 (7), E11493 (2010) PUBMED 20634891 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only REFERENCE 5 (bases 1 to 3658) AUTHORS Lamesch,P., Li,N., Milstein,S., Fan,C., Hao,T., Szabo,G., Hu,Z., Venkatesan,K., Bethel,G., Martin,P., Rogers,J., Lawlor,S., McLaren,S., Dricot,A., Borick,H., Cusick,M.E., Vandenhaute,J., Dunham,I., Hill,D.E. and Vidal,M. TITLE hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes JOURNAL Genomics 89 (3), 307-315 (2007) PUBMED 17207965 REFERENCE 6 (bases 1 to 3658) AUTHORS Anderson,D.M., Arredondo,J., Hahn,K., Valente,G., Martin,J.F., Wilson-Rawls,J. and Rawls,A. TITLE Mohawk is a novel homeobox gene expressed in the developing mouse embryo JOURNAL Dev. Dyn. 235 (3), 792-801 (2006) PUBMED 16408284 REFERENCE 7 (bases 1 to 3658) AUTHORS Weinmann,A., Galle,P.R. and Teufel,A. TITLE In silico characterization of an Iroquois family-related homeodomain protein JOURNAL Int. J. Mol. Med. 16 (3), 443-448 (2005) PUBMED 16077953 REMARK GeneRIF: In silico characterization of the C10orf48 sequence REFERENCE 8 (bases 1 to 3658) AUTHORS Robertson,N.G., Khetarpal,U., Gutierrez-Espeleta,G.A., Bieber,F.R. and Morton,C.C. TITLE Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening JOURNAL Genomics 23 (1), 42-50 (1994) PUBMED 7829101 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC024606.11, DB285243.1, BC036207.1 and AW020078.1. This sequence is a reference standard in the RefSeqGene project. On Apr 8, 2008 this sequence version replaced gi:27734826. Summary: The protein encoded by this gene is an IRX family-related homeobox protein that may play a role in cell adhesion. Studies in mice suggest that this protein may be a regulator of tendon development. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jun 2011]. Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein. 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 :: AK125339.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025081, ERS025082 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-143 AC024606.11 139579-139721 c 144-413 DB285243.1 49-318 414-1063 BC036207.1 380-1029 1064-1097 AC024606.11 69393-69426 c 1098-3352 AC024606.11 67033-69287 c 3353-3658 AW020078.1 8-313 FEATURES Location/Qualifiers source 1..3658 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="10" /map="10p12.1" gene 1..3658 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /note="mohawk homeobox" /db_xref="GeneID:283078" /db_xref="HGNC:23729" /db_xref="MIM:601332" exon 1..143 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /inference="alignment:Splign:1.39.8" misc_feature 85..87 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /note="upstream in-frame stop codon" exon 144..413 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /inference="alignment:Splign:1.39.8" STS 225..930 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /standard_name="Mkx" /db_xref="UniSTS:496529" CDS 226..1284 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /note="iroquois homeobox protein-like 1; Iroquois family related homeodomain protein" /codon_start=1 /product="homeobox protein Mohawk" /protein_id="NP_775847.2" /db_xref="GI:178057337" /db_xref="CCDS:CCDS7156.1" /db_xref="GeneID:283078" /db_xref="HGNC:23729" /db_xref="MIM:601332" /translation="
MNTIVFNKLSGAVLFEDGGASERERGGRPYSGVLDSPHARPEVGIPDGPPLKDNLGLRHRRTGARQNGGKVRHKRQALQDMARPLKQWLYKHRDNPYPTKTEKILLALGSQMTLVQVSNWFANARRRLKNTVRQPDLSWALRIKLYNKYVQGNAERLSVSSDDSCSEDGENPPRTHMNEGGYNTPVHHPVIKSENSVIKAGVRPESRASEDYVAPPKYKSSLLNRYLNDSLRHVMATNTTMMGKTRQRNHSGSFSSNEFEEELVSPSSSETEGNFVYRTDTLENGSNKGESAANRKGPSKDDTYWKEINAAMALTNLAQGKDKLQGTTSCIIQKSSHIAEVKTVKVPLVQQF
" misc_feature 439..618 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /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(439..453,457..459,514..516,532..534,571..573, 577..582,589..594,598..606,610..615) /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(445..447,454..456,580..582,589..594,601..603) /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" variation 344 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /replace="a" /replace="g" /db_xref="dbSNP:34439626" exon 414..573 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /inference="alignment:Splign:1.39.8" exon 574..727 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /inference="alignment:Splign:1.39.8" STS 680..863 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /standard_name="D10S1377E" /db_xref="UniSTS:151373" variation 700 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /replace="a" /replace="g" /db_xref="dbSNP:34806745" exon 728..1063 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /inference="alignment:Splign:1.39.8" variation 866 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /replace="c" /replace="g" /db_xref="dbSNP:35775843" exon 1064..1097 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /inference="alignment:Splign:1.39.8" exon 1098..3639 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /inference="alignment:Splign:1.39.8" STS 2219..2372 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /standard_name="D10S1314E" /db_xref="UniSTS:151346" polyA_signal 2364..2369 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" polyA_site 2389 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" polyA_signal 3131..3136 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" polyA_site 3166 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" STS 3488..3609 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /standard_name="RH48228" /db_xref="UniSTS:18941" polyA_signal 3614..3619 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" polyA_site 3639 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" ORIGIN
aaataaagccgagacgacggcggtggcggtggtgagcgcgctggagcccgcgtggagaacatgcggcggggatgggagtgcgcctagtctcgaggcgggagagccagccgccctgcagccggccgtcggccccgcagccacagaagccgagccccgctgcggagctcccggcggcccagccccgaggctctgcggccgcgccgcgcgtccctaccaaccgacaccatgaacaccatcgtcttcaacaagctcagcggtgcggtgctgtttgaggacggaggcgcctcggagcgggagcggggtggccggccctacagcggtgtcctggacagtcctcacgcccgccccgaggtgggcattcccgacggcccgcccctcaaggacaacctcggcctgagacaccggaggaccggcgcccggcagaatggcgggaaggtgaggcacaagcggcaggccctgcaagacatggcgcgacccctcaagcagtggctttacaagcaccgtgacaacccgtaccccaccaagaccgagaagatactcttggccctcggctcgcagatgacgctagtgcaggtgtcaaattggtttgctaatgcaagacgtcggcttaagaataccgttcgacagccagatttaagctgggctttgagaataaagttatacaacaagtatgttcaaggcaatgctgaacggcttagcgtaagcagtgatgactcatgttctgaagatggagaaaatcctccaagaacccacatgaacgaagggggctataataccccagttcaccatcctgtgattaaaagtgagaattcggtcatcaaagcgggagtgaggccagagtcacgggccagtgaggactacgtggcaccccccaaatacaagagcagcttgttgaaccgttaccttaatgactctttgagacatgtcatggccacgaacactaccatgatgggaaaaacaaggcaaagaaaccactcgggatcttttagctccaatgaatttgaggaagaattagtgtctccatcgtcatcagaaactgaaggcaactttgtctatcgcacagacactctggaaaacggatccaataagggtgaaagcgcagctaacagaaaaggaccaagcaaggatgacacgtattggaaggagatcaacgcagctatggccttaacaaatcttgcacagggaaaggacaaactgcagggaactaccagctgcatcatccagaagtcgtcccatatagcagaagtaaagactgtcaaagtgccgctggtgcagcagttttaagagcttgttgcttttcagatccaatggatgttctttccggtgttttcatcaaccctcatcctaagagccgaagcagggatgaaaatgactctctcccaaacctcttcttatttttaattatcccaaatatatcatttagttgcttctataaaagacatataaattataaaaaactcattttaatcaaaaatattaacttattttatgttactcaaactatgcataaaacatctgcattaccattacagtaagtgccttgcttcccgacaataagctccaacgtgggcatagttgaacaagctatgcctcaaaatgccaacgccatatgcttattagcctgtgtgcatcattccagacgggcctaatcattccaggactgaaaccagaatcgctgaaagcccttgaaatacattcaataattcatatgttaaaacttggatatctgttcagcccaaatgaaatcttccttttaaaaaacgtctacattattgaaaattgttcaatgtgcttttcagagtgacggtgagaattttatgcatgtatcttgcctgcatatttgatatgttacaaacttccaaaattcaaggtgcagcgatccacagaacgttgtacatttaagaagtgattccttcaagctaatttaaaatttcattgaacacatggtgaccaggaaaactttttttcaagcactgttggaaagcaccacaaagccctttagaattaatctggatttgtttctcaagttctgctgaagtttaaaaaaaaactttattatacaaataactcaaaattttcctgtgtaaaactaaacctgtagttttaaaacataatcctgtttgcattagagctcactgtctttttgtgatggaaactgtgttcgtatggaatgactaaaaatcttttatttggtttgtttcaaattacaattgctgatggacaatttgtattgcagcgagaacaacagaatgaaagaaatgtatctctgtgcggctatacatatacatacataaaattgatttttaaatttaaaacatatggaaaacaaaacattgaacagtttgaattttgccaagttggacattaaagtaaaaatgaagtgaaatcatgcattgaaagaaaacattttgtttctaaattagtctaccattgagtgagaataatcaatatcaagaaagaagactatctttctcaactaaacaataatattccaatcagcttgggaagacctgaaacttgaataagcagtggaaatgccaaatataacagagggtatgtgctacagagaagtaaaaagggtttgactttttatgatgggattttttttttctgggtatgtaatctattttttttttaaactggaaagcatttttgtcagtgtgaatgagggtcaatagtgcagccagtggtgacatttttctttattttgcaaaatgcttttaaaaccaaaggctgctctagttgatggacagtatcagtcttgatctaaattgtaggacactttttcatgtaacataacatttggggattgggtttatttagtgtaatgaagataatttgatataaaaatattttgtgtatatatatatatttttactttgttttctaaattgctgtttgcagtaacagtaagcgcaaagcaaaatatataagttatgactgtatgatcagatgaagtatgagttcttttggtttgcatccttaaatagttagagatctctgataaaaactttggaatctttgcaaaacaatacaaaaatgccaaaatgtgagcatgtcaatgaaaactaaagacaaatacttcactctttttcatactattataagttattctggtattaaatatgttaataaaagtgtttttgttttgacatatttcagttaaatgaatgaatgctggttgtattttatttgaatgagtcatgattcatgtttgccatctttttaaaaaaatcagcaaatttcttctatgttataaattatagatgacaaggcaatataggacaactattcacatgattttttttaataccaaaggttggaagattttataattaacatgtcaagaagactttatagtaagcacatccttggtaatatctccaattgcaatgactttttaatttattttttcttttgctgctttaacattttctggatattaaaatccccccagtcctttaaaagaatcttgaacaatgctgagccggcagctgaaaatctaactcataatttatgttgtagagaaatagaattacctctattctttgttttgccatatgtaatcattttaataaaattaataactgccaggagttcttgacagatttaaaataaaagttaatttctagacctcgaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:283078 -> Molecular function: GO:0000981 [sequence-specific DNA binding RNA polymerase II transcription factor activity] evidence: IEA GeneID:283078 -> Molecular function: GO:0001085 [RNA polymerase II transcription factor binding] evidence: IEA GeneID:283078 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA GeneID:283078 -> Biological process: GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] evidence: IEA GeneID:283078 -> Biological process: GO:0002932 [tendon sheath development] evidence: IEA GeneID:283078 -> Biological process: GO:0007517 [muscle organ development] evidence: ISS GeneID:283078 -> Biological process: GO:0010628 [positive regulation of gene expression] evidence: IEA GeneID:283078 -> Biological process: GO:0030199 [collagen fibril organization] evidence: IEA GeneID:283078 -> Biological process: GO:0032967 [positive regulation of collagen biosynthetic process] evidence: IEA GeneID:283078 -> Biological process: GO:0035990 [tendon cell differentiation] evidence: IEA GeneID:283078 -> Biological process: GO:0045662 [negative regulation of myoblast differentiation] evidence: IEA GeneID:283078 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
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