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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
//

Annotations:

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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