2024-03-30 00:22:23, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001242702 3655 bp mRNA linear PRI 16-JUN-2013 DEFINITION Homo sapiens mohawk homeobox (MKX), transcript variant 2, mRNA. ACCESSION NM_001242702 VERSION NM_001242702.1 GI:336595226 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 3655) 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 3655) 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 3655) 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 3655) 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 3655) 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 3655) 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 3655) 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 3655) 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 AK125339.1, BC036207.1, AC024606.11 and AW020078.1. 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 (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein. ##Evidence-Data-START## Transcript exon combination :: BC036207.1 [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 1-31 AK125339.1 3-33 32-252 BC036207.1 1-221 253-1766 AK125339.1 258-1771 1767-1767 AC024606.11 68615-68615 c 1768-2607 AK125339.1 1773-2612 2608-3633 AK125339.1 2614-3639 3634-3655 AW020078.1 292-313 FEATURES Location/Qualifiers source 1..3655 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="10" /map="10p12.1" gene 1..3655 /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..410 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /inference="alignment:Splign:1.39.8" STS 222..927 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /standard_name="Mkx" /db_xref="UniSTS:496529" CDS 223..1281 /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_001229631.1" /db_xref="GI:336595227" /db_xref="CCDS:CCDS7156.1" /db_xref="GeneID:283078" /db_xref="HGNC:23729" /db_xref="MIM:601332" /translation="
MNTIVFNKLSGAVLFEDGGASERERGGRPYSGVLDSPHARPEVGIPDGPPLKDNLGLRHRRTGARQNGGKVRHKRQALQDMARPLKQWLYKHRDNPYPTKTEKILLALGSQMTLVQVSNWFANARRRLKNTVRQPDLSWALRIKLYNKYVQGNAERLSVSSDDSCSEDGENPPRTHMNEGGYNTPVHHPVIKSENSVIKAGVRPESRASEDYVAPPKYKSSLLNRYLNDSLRHVMATNTTMMGKTRQRNHSGSFSSNEFEEELVSPSSSETEGNFVYRTDTLENGSNKGESAANRKGPSKDDTYWKEINAAMALTNLAQGKDKLQGTTSCIIQKSSHIAEVKTVKVPLVQQF
" misc_feature 436..615 /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(436..450,454..456,511..513,529..531,568..570, 574..579,586..591,595..603,607..612) /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(442..444,451..453,577..579,586..591,598..600) /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" variation 341 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /replace="a" /replace="g" /db_xref="dbSNP:34439626" exon 411..570 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /inference="alignment:Splign:1.39.8" exon 571..724 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /inference="alignment:Splign:1.39.8" STS 677..860 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /standard_name="D10S1377E" /db_xref="UniSTS:151373" variation 697 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /replace="a" /replace="g" /db_xref="dbSNP:34806745" exon 725..1060 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /inference="alignment:Splign:1.39.8" variation 863 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /replace="c" /replace="g" /db_xref="dbSNP:35775843" exon 1061..1094 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /inference="alignment:Splign:1.39.8" exon 1095..3636 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /inference="alignment:Splign:1.39.8" STS 2216..2369 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /standard_name="D10S1314E" /db_xref="UniSTS:151346" polyA_signal 2361..2366 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" polyA_site 2386 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" polyA_signal 3128..3133 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" polyA_site 3163 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" STS 3485..3606 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" /standard_name="RH48228" /db_xref="UniSTS:18941" polyA_signal 3611..3616 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" polyA_site 3636 /gene="MKX" /gene_synonym="C10orf48; IFRX; IRXL1" ORIGIN
aaataaagccgagacgacggcggtggcggtggtgagcgcgctggagcccgcgtggagaacatgcggcggggatgggagtgcgcctagtctcgaggcgggagagccagccgccctgcagccggccgtcggccccgcagccacagccgagccccgctgcggagctcccggcggcccagccccgaggctctgcggccgcgccgcgcgtccctaccaaccgacaccatgaacaccatcgtcttcaacaagctcagcggtgcggtgctgtttgaggacggaggcgcctcggagcgggagcggggtggccggccctacagcggtgtcctggacagtcctcacgcccgccccgaggtgggcattcccgacggcccgcccctcaaggacaacctcggcctgagacaccggaggaccggcgcccggcagaatggcgggaaggtgaggcacaagcggcaggccctgcaagacatggcgcgacccctcaagcagtggctttacaagcaccgtgacaacccgtaccccaccaagaccgagaagatactcttggccctcggctcgcagatgacgctagtgcaggtgtcaaattggtttgctaatgcaagacgtcggcttaagaataccgttcgacagccagatttaagctgggctttgagaataaagttatacaacaagtatgttcaaggcaatgctgaacggcttagcgtaagcagtgatgactcatgttctgaagatggagaaaatcctccaagaacccacatgaacgaagggggctataataccccagttcaccatcctgtgattaaaagtgagaattcggtcatcaaagcgggagtgaggccagagtcacgggccagtgaggactacgtggcaccccccaaatacaagagcagcttgttgaaccgttaccttaatgactctttgagacatgtcatggccacgaacactaccatgatgggaaaaacaaggcaaagaaaccactcgggatcttttagctccaatgaatttgaggaagaattagtgtctccatcgtcatcagaaactgaaggcaactttgtctatcgcacagacactctggaaaacggatccaataagggtgaaagcgcagctaacagaaaaggaccaagcaaggatgacacgtattggaaggagatcaacgcagctatggccttaacaaatcttgcacagggaaaggacaaactgcagggaactaccagctgcatcatccagaagtcgtcccatatagcagaagtaaagactgtcaaagtgccgctggtgcagcagttttaagagcttgttgcttttcagatccaatggatgttctttccggtgttttcatcaaccctcatcctaagagccgaagcagggatgaaaatgactctctcccaaacctcttcttatttttaattatcccaaatatatcatttagttgcttctataaaagacatataaattataaaaaactcattttaatcaaaaatattaacttattttatgttactcaaactatgcataaaacatctgcattaccattacagtaagtgccttgcttcccgacaataagctccaacgtgggcatagttgaacaagctatgcctcaaaatgccaacgccatatgcttattagcctgtgtgcatcattccagacgggcctaatcattccaggactgaaaccagaatcgctgaaagcccttgaaatacattcaataattcatatgttaaaacttggatatctgttcagcccaaatgaaatcttccttttaaaaaacgtctacattattgaaaattgttcaatgtgcttttcagagtgacggtgagaattttatgcatgtatcttgcctgcatatttgatatgttacaaacttccaaaattcaaggtgcagcgatccacagaacgttgtacatttaagaagtgattccttcaagctaatttaaaatttcattgaacacatggtgaccaggaaaactttttttcaagcactgttggaaagcaccacaaagccctttagaattaatctggatttgtttctcaagttctgctgaagtttaaaaaaaaactttattatacaaataactcaaaattttcctgtgtaaaactaaacctgtagttttaaaacataatcctgtttgcattagagctcactgtctttttgtgatggaaactgtgttcgtatggaatgactaaaaatcttttatttggtttgtttcaaattacaattgctgatggacaatttgtattgcagcgagaacaacagaatgaaagaaatgtatctctgtgcggctatacatatacatacataaaattgatttttaaatttaaaacatatggaaaacaaaacattgaacagtttgaattttgccaagttggacattaaagtaaaaatgaagtgaaatcatgcattgaaagaaaacattttgtttctaaattagtctaccattgagtgagaataatcaatatcaagaaagaagactatctttctcaactaaacaataatattccaatcagcttgggaagacctgaaacttgaataagcagtggaaatgccaaatataacagagggtatgtgctacagagaagtaaaaagggtttgactttttatgatgggattttttttttctgggtatgtaatctattttttttttaaactggaaagcatttttgtcagtgtgaatgagggtcaatagtgcagccagtggtgacatttttctttattttgcaaaatgcttttaaaaccaaaggctgctctagttgatggacagtatcagtcttgatctaaattgtaggacactttttcatgtaacataacatttggggattgggtttatttagtgtaatgaagataatttgatataaaaatattttgtgtatatatatatatttttactttgttttctaaattgctgtttgcagtaacagtaagcgcaaagcaaaatatataagttatgactgtatgatcagatgaagtatgagttcttttggtttgcatccttaaatagttagagatctctgataaaaactttggaatctttgcaaaacaatacaaaaatgccaaaatgtgagcatgtcaatgaaaactaaagacaaatacttcactctttttcatactattataagttattctggtattaaatatgttaataaaagtgtttttgttttgacatatttcagttaaatgaatgaatgctggttgtattttatttgaatgagtcatgattcatgtttgccatctttttaaaaaaatcagcaaatttcttctatgttataaattatagatgacaaggcaatataggacaactattcacatgattttttttaataccaaaggttggaagattttataattaacatgtcaagaagactttatagtaagcacatccttggtaatatctccaattgcaatgactttttaatttattttttcttttgctgctttaacattttctggatattaaaatccccccagtcctttaaaagaatcttgaacaatgctgagccggcagctgaaaatctaactcataatttatgttgtagagaaatagaattacctctattctttgttttgccatatgtaatcattttaataaaattaataactgccaggagttcttgacagatttaaaataaaagttaatttctagacctcgaaaaaaaaaaaaaaaaaaaa
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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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