LOCUS       NM_018942               1917 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens H6 family homeobox 1 (HMX1), transcript variant 1,
            mRNA.
ACCESSION   NM_018942 XM_001133154
VERSION     NM_018942.3
KEYWORDS    RefSeq; MANE Select.
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 1917)
  AUTHORS   Si,N., Meng,X., Lu,X., Liu,Z., Qi,Z., Wang,L., Li,C., Yang,M.,
            Zhang,Y., Wang,C., Guo,P., Zhu,L., Liu,L., Li,Z., Zhang,Z., Cai,Z.,
            Pan,B., Jiang,H. and Zhang,X.
  TITLE     Duplications involving the long range HMX1 enhancer are associated
            with human isolated bilateral concha-type microtia
  JOURNAL   J Transl Med 18 (1), 244 (2020)
   PUBMED   32552830
  REMARK    GeneRIF: Duplications involving the long range HMX1 enhancer are
            associated with human isolated bilateral concha-type microtia.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1917)
  AUTHORS   Abdel-Salam,G.M.H., Abdel-Hamid,M.S., Mehrez,M.I., Kamal,A.M.,
            Taher,M.B. and Afifi,H.H.
  TITLE     Further delineation of the oculoauricular syndrome phenotype: A new
            family with a novel truncating HMX1 mutation
  JOURNAL   Ophthalmic Genet 39 (2), 215-220 (2018)
   PUBMED   29140751
  REMARK    GeneRIF: Mutation analysis revealed a novel homozygous nonsense
            mutation c.487G>T in the second exon of the HMX1 that predicted to
            introduce a premature stop codon at position 163 (p.E163*).
REFERENCE   3  (bases 1 to 1917)
  AUTHORS   Yin,Y., Morgunova,E., Jolma,A., Kaasinen,E., Sahu,B.,
            Khund-Sayeed,S., Das,P.K., Kivioja,T., Dave,K., Zhong,F.,
            Nitta,K.R., Taipale,M., Popov,A., Ginno,P.A., Domcke,S., Yan,J.,
            Schubeler,D., Vinson,C. and Taipale,J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   4  (bases 1 to 1917)
  AUTHORS   Oshikawa,M., Tsutsui,C., Ikegami,T., Fuchida,Y., Matsubara,M.,
            Toyama,S., Usami,R., Ohtoko,K. and Kato,S.
  TITLE     Full-length transcriptome analysis of human retina-derived cell
            lines ARPE-19 and Y79 using the vector-capping method
  JOURNAL   Invest Ophthalmol Vis Sci 52 (9), 6662-6670 (2011)
   PUBMED   21697133
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1917)
  AUTHORS   Vaclavik,V., Schorderet,D.F., Borruat,F.X. and Munier,F.L.
  TITLE     Retinal dystrophy in the oculo-auricular syndrome due to HMX1
            mutation
  JOURNAL   Ophthalmic Genet 32 (2), 114-117 (2011)
   PUBMED   21417677
  REMARK    GeneRIF: The retinal degeneration in the recessively inherited
            oculo-auricular syndrome is a progressive rod-cone dystrophy.
REFERENCE   6  (bases 1 to 1917)
  AUTHORS   Vaquerizas,J.M., Kummerfeld,S.K., Teichmann,S.A. and Luscombe,N.M.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   7  (bases 1 to 1917)
  AUTHORS   Schorderet,D.F., Nichini,O., Boisset,G., Polok,B., Tiab,L.,
            Mayeur,H., Raji,B., de la Houssaye,G., Abitbol,M.M. and Munier,F.L.
  TITLE     Mutation in the human homeobox gene NKX5-3 causes an
            oculo-auricular syndrome
  JOURNAL   Am J Hum Genet 82 (5), 1178-1184 (2008)
   PUBMED   18423520
  REMARK    GeneRIF: Linkage analysis and mutation screening revealed in the
            first exon of the NKX5-3 gene a homozygous 26 nucleotide deletion,
            generating a truncating protein that lacked the complete
            homeodomain.
REFERENCE   8  (bases 1 to 1917)
  AUTHORS   Amendt,B.A., Sutherland,L.B. and Russo,A.F.
  TITLE     Transcriptional antagonism between Hmx1 and Nkx2.5 for a shared
            DNA-binding site
  JOURNAL   J Biol Chem 274 (17), 11635-11642 (1999)
   PUBMED   10206974
REFERENCE   9  (bases 1 to 1917)
  AUTHORS   Stadler,H.S., Murray,J.C., Leysens,N.J., Goodfellow,P.J. and
            Solursh,M.
  TITLE     Phylogenetic conservation and physical mapping of members of the H6
            homeobox gene family
  JOURNAL   Mamm Genome 6 (6), 383-388 (1995)
   PUBMED   7647458
REFERENCE   10 (bases 1 to 1917)
  AUTHORS   Stadler,H.S., Padanilam,B.J., Buetow,K., Murray,J.C. and Solursh,M.
  TITLE     Identification and genetic mapping of a homeobox gene to the 4p16.1
            region of human chromosome 4
  JOURNAL   Proc Natl Acad Sci U S A 89 (23), 11579-11583 (1992)
   PUBMED   1360670
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC116612.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_018942.2.
            
            Summary: This gene encodes a transcription factor that belongs to
            the H6 family of homeobox proteins. This protein can bind a
            5'-CAAG-3' core DNA sequence, and it is involved in the development
            of craniofacial structures. Mutations in this gene cause
            oculoauricular syndrome, a disorder of the eye and external ear.
            [provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (1) represents the longer variant
            and encodes the longer isoform (1).
            
            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 transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: M99587.1, ERR3218380.250109.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000400677.5/ ENSP00000383516.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                AC116612.5         44176-44197         c
            23-619              AC116612.5         43579-44175         c
            620-1917            AC116612.5         39406-40703         c
FEATURES             Location/Qualifiers
     source          1..1917
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.1"
     gene            1..1917
                     /gene="HMX1"
                     /gene_synonym="H6; NKX5-3"
                     /note="H6 family homeobox 1"
                     /db_xref="GeneID:3166"
                     /db_xref="HGNC:HGNC:5017"
                     /db_xref="MIM:142992"
     exon            1..619
                     /gene="HMX1"
                     /gene_synonym="H6; NKX5-3"
                     /inference="alignment:Splign:2.1.0"
     CDS             226..1272
                     /gene="HMX1"
                     /gene_synonym="H6; NKX5-3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     homeobox protein HMX1; H6 homeodomain protein; homeobox
                     protein H6; NK5 homeobox 3"
                     /codon_start=1
                     /product="homeobox protein HMX1 isoform 1"
                     /protein_id="NP_061815.2"
                     /db_xref="CCDS:CCDS47018.1"
                     /db_xref="GeneID:3166"
                     /db_xref="HGNC:HGNC:5017"
                     /db_xref="MIM:142992"
                     /translation="MPDELTEPGRATPARASSFLIENLLAAEAKGAGRATQGDGSRED
                     EEEDDDDPEDEDAEQARRRRLQRRRQLLAGTGPGGEARARALLGPGALGLGPRPPPGP
                     GPPFALGCGGAARWYPRAHGGYGGGLSPDTSDRDSPETGEEMGRAEGAWPRGPGPGAV
                     QREAAELAARGPAAGTEEASELAEVPAAAGETRGGVGVGGGRKKKTRTVFSRSQVFQL
                     ESTFDLKRYLSSAERAGLAASLQLTETQVKIWFQNRRNKWKRQLAAELEAASLSPPGA
                     QRLVRVPVLYHESPPAAAAAGPPATLPFPLAPAAPAPPPPLLGFSGALAYPLAAFPAA
                     ASVPFLRAQMPGLV"
     exon            620..1917
                     /gene="HMX1"
                     /gene_synonym="H6; NKX5-3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1895..1900
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HMX1"
                     /gene_synonym="H6; NKX5-3"
                     /note="hexamer: AATAAA"
     polyA_site      1917
                     /gene="HMX1"
                     /gene_synonym="H6; NKX5-3"
                     /note="major polyA site"
ORIGIN      
        1 gaaaggcgag ccaggcggct gcccgatcag ctgtcggcgc gcactcgctc ccggcccggc
       61 ccagcccagc ccggcgcgga ggccgccgcc tgccctgcgg ggcccgacgc cagcggtccg
      121 ggtagcagct ccagggccgg cccgcgcgtg cgcccgggag ccgcgcgcca ccatccccag
      181 cggggaccga ggagcccggc cgagcccgag aagcccgcgg ccgcgatgcc tgacgagctg
      241 acggagcccg ggcgcgccac gccggcccgc gcctcctcct tcctcatcga gaacctgctg
      301 gcggccgagg ccaagggcgc agggcgcgcg acccagggcg acggcagccg ggaggacgag
      361 gaggaggacg acgacgaccc cgaagacgag gacgccgagc aggcgcggcg gcgacggcta
      421 cagcggcggc gacagttgct cgcgggcacc gggcccggcg gggaggcgcg ggcccgtgcg
      481 ctgctcgggc cgggcgcgct gggcctcggt cctcggccgc cccccggtcc cgggccgccc
      541 ttcgctctgg gctgcggagg cgcagcgcgc tggtacccac gggcgcacgg tggctatgga
      601 ggcggcctca gtcctgacac cagcgaccgg gactcaccgg agacgggcga ggagatgggc
      661 cgtgcggagg gcgcctggcc gcgaggcccc gggccgggag cggtgcagcg ggaggcagcg
      721 gagctggcgg cgcgtggccc ggcggccggc acggaggagg cgtcggagct ggccgaggtc
      781 cctgcggcgg ctggggagac acgcggcggc gttggcgtgg gcggcggccg aaagaagaag
      841 acgcgcacag tcttctcccg cagccaggtc ttccagctgg aatccacctt cgacctgaag
      901 cgctacctga gcagcgccga gcgcgccggc ctggccgcct ccctgcagct caccgagacg
      961 caggttaaga tctggttcca gaaccgccgc aacaagtgga agcggcagct ggcagccgag
     1021 ctggaggcgg ccagcctgtc cccgccggga gcgcagcgcc tggtccgcgt gccggtgctc
     1081 taccacgaaa gccccccggc cgcagccgcc gctgggcccc cggccaccct gcccttcccg
     1141 ctggcgcccg ccgcgcccgc gccgccccca ccgctgctcg gcttctccgg ggccctcgcc
     1201 tacccgctgg ccgccttccc ggccgccgcc tccgtgccct ttctgcgggc gcagatgcct
     1261 ggcctggtgt gagccccgcc tgccgggccc tctccccacg accctgtgga cctgtgtgga
     1321 cgcgcgattc agcggcaggc gcagggctca gggggcgtta gggaagggat ggtcgctcct
     1381 gcggcctcct agatacctcg ggagcgcagg ccgcggccgg gcgggcctca gcttctgtgg
     1441 ggagcgcctc tagaatgtaa tgggacgccc cacccatttg ccaggctgga tccccactcg
     1501 aacagggggc catgcagaga ctctgggctg cgcagccccc ggcgccacgg ccaccccccg
     1561 gcctcagcga ggagcggtcg gccatggcca cccggggcag ctgccctcag gccaagccca
     1621 gcgcaacaaa ggaaaactac gaaccggctg tccaaggctg agcggtgact gtccccacag
     1681 actgccccca acactaaacg tccctttcct gggacccaga cagcaggccg gcccggaggg
     1741 ctgtgctacc cctctcgcgg gtgctggtgg agaaaggacc ctggacctgt gggtcccatc
     1801 gtccgttcca ggagcaggca ggctggggct ctctgcagac gtcgcagcct ccgggttgtt
     1861 gtttttttaa atgaatctac ttatttgcgt atggaataaa aagggacatt ttctgga
//
