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2024-04-19 13:11:18, 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:

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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