LOCUS       NM_005221               1418 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens distal-less homeobox 5 (DLX5), mRNA.
ACCESSION   NM_005221
VERSION     NM_005221.6
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 1418)
  AUTHORS   Abdullah, Hussain,S., Ji,W., Khan,H., Mis,E.K., Mushtaq,R.,
            Chodhary,M., Raza,M.H., Jan,A., Ullah,I., Khokha,M.K., Lakhani,S.A.
            and Ahmad,W.
  TITLE     Sequence variants in DLX5, HOXD13 and 445 kb-microduplication
            surrounding BTRC cause split-hand/foot malformation in three
            different families
  JOURNAL   Clin Genet 105 (1), 109-111 (2024)
   PUBMED   37776184
  REMARK    GeneRIF: Sequence variants in DLX5, HOXD13 and 445
            kb-microduplication surrounding BTRC cause split-hand/foot
            malformation in three different families.
REFERENCE   2  (bases 1 to 1418)
  AUTHORS   Jia,C., Gao,F., Zhao,Y., Ji,S. and Cai,S.
  TITLE     Identification and functional analysis of changes to the
            ox-LDL-induced microRNA-124-3p/DLX5 axis in vascular smooth muscle
            cells
  JOURNAL   Adv Clin Exp Med 30 (12), 1271-1281 (2021)
   PUBMED   34705345
  REMARK    GeneRIF: Identification and functional analysis of changes to the
            ox-LDL-induced microRNA-124-3p/DLX5 axis in vascular smooth muscle
            cells.
REFERENCE   3  (bases 1 to 1418)
  AUTHORS   Huang,Y., Yang,Q., Zheng,Y., Lin,L., Xu,X., Xu,X.E., Silva,T.C.,
            Hazawa,M., Peng,L., Cao,H., Ding,Y., Lu,D., Berman,B.P., Xu,L.Y.,
            Li,E.M. and Yin,D.
  TITLE     Activation of bivalent factor DLX5 cooperates with master regulator
            TP63 to promote squamous cell carcinoma
  JOURNAL   Nucleic Acids Res 49 (16), 9246-9263 (2021)
   PUBMED   34370013
  REMARK    GeneRIF: Activation of bivalent factor DLX5 cooperates with master
            regulator TP63 to promote squamous cell carcinoma.
REFERENCE   4  (bases 1 to 1418)
  AUTHORS   Zhang,J., Wu,J., Chen,Y. and Zhang,W.
  TITLE     Dlx5 promotes cancer progression through regulation of CCND1 in
            oral squamous cell carcinoma (OSCC)
  JOURNAL   Biochem Cell Biol 99 (4), 424-434 (2021)
   PUBMED   34283652
  REMARK    GeneRIF: Dlx5 promotes cancer progression through regulation of
            CCND1 in oral squamous cell carcinoma (OSCC).
REFERENCE   5  (bases 1 to 1418)
  AUTHORS   Zhang,G., Zhou,Y., Su,M., Yang,X. and Zeng,B.
  TITLE     Inhibition of microRNA-27b-3p relieves osteoarthritis pain via
            regulation of KDM4B-dependent DLX5
  JOURNAL   Biofactors 46 (5), 788-802 (2020)
   PUBMED   32856377
  REMARK    GeneRIF: Inhibition of microRNA-27b-3p relieves osteoarthritis pain
            via regulation of KDM4B-dependent DLX5.
REFERENCE   6  (bases 1 to 1418)
  AUTHORS   Eisenstat,D.D., Liu,J.K., Mione,M., Zhong,W., Yu,G., Anderson,S.A.,
            Ghattas,I., Puelles,L. and Rubenstein,J.L.
  TITLE     DLX-1, DLX-2, and DLX-5 expression define distinct stages of basal
            forebrain differentiation
  JOURNAL   J Comp Neurol 414 (2), 217-237 (1999)
   PUBMED   10516593
REFERENCE   7  (bases 1 to 1418)
  AUTHORS   Newberry,E.P., Latifi,T. and Towler,D.A.
  TITLE     The RRM domain of MINT, a novel Msx2 binding protein, recognizes
            and regulates the rat osteocalcin promoter
  JOURNAL   Biochemistry 38 (33), 10678-10690 (1999)
   PUBMED   10451362
REFERENCE   8  (bases 1 to 1418)
  AUTHORS   Zhang,H., Hu,G., Wang,H., Sciavolino,P., Iler,N., Shen,M.M. and
            Abate-Shen,C.
  TITLE     Heterodimerization of Msx and Dlx homeoproteins results in
            functional antagonism
  JOURNAL   Mol Cell Biol 17 (5), 2920-2932 (1997)
   PUBMED   9111364
  REMARK    GeneRIF: In mice, biological and biochemical observations suggest
            that functional antagonism through heterodimer formation is a
            mechanism for regulating the transcriptional actions of Msx and Dlx
            homeoproteins.
REFERENCE   9  (bases 1 to 1418)
  AUTHORS   Scherer,S.W., Poorkaj,P., Massa,H., Soder,S., Allen,T., Nunes,M.,
            Geshuri,D., Wong,E., Belloni,E., Little,S. et al.
  TITLE     Physical mapping of the split hand/split foot locus on chromosome 7
            and implication in syndromic ectrodactyly
  JOURNAL   Hum Mol Genet 3 (8), 1345-1354 (1994)
   PUBMED   7987313
REFERENCE   10 (bases 1 to 1418)
  AUTHORS   Simeone,A., Acampora,D., Pannese,M., D'Esposito,M., Stornaiuolo,A.,
            Gulisano,M., Mallamaci,A., Kastury,K., Druck,T., Huebner,K. et al.
  TITLE     Cloning and characterization of two members of the vertebrate Dlx
            gene family
  JOURNAL   Proc Natl Acad Sci U S A 91 (6), 2250-2254 (1994)
   PUBMED   7907794
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB280023.1 and BC006226.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 31, 2018 this sequence version replaced NM_005221.5.
            
            Summary: This gene encodes a member of a homeobox transcription
            factor gene family similiar to the Drosophila distal-less gene. The
            encoded protein may play a role in bone development and fracture
            healing. Mutation in this gene, which is located in a tail-to-tail
            configuration with another member of the family on the long arm of
            chromosome 7, may be associated with split-hand/split-foot
            malformation. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC006226.2, AK023493.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267768 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000648378.1/ ENSP00000498116.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                DB280023.1         1-14
            15-1418             BC006226.2         1-1404
FEATURES             Location/Qualifiers
     source          1..1418
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.3"
     gene            1..1418
                     /gene="DLX5"
                     /gene_synonym="SHFM1; SHFM1D"
                     /note="distal-less homeobox 5"
                     /db_xref="GeneID:1749"
                     /db_xref="HGNC:HGNC:2918"
                     /db_xref="MIM:600028"
     exon            1..563
                     /gene="DLX5"
                     /gene_synonym="SHFM1; SHFM1D"
                     /inference="alignment:Splign:2.1.0"
     CDS             209..1078
                     /gene="DLX5"
                     /gene_synonym="SHFM1; SHFM1D"
                     /note="distal-less homeo box 5; split hand/foot
                     malformation type 1 with sensorineural hearing loss"
                     /codon_start=1
                     /product="homeobox protein DLX-5"
                     /protein_id="NP_005212.1"
                     /db_xref="CCDS:CCDS5647.1"
                     /db_xref="GeneID:1749"
                     /db_xref="HGNC:HGNC:2918"
                     /db_xref="MIM:600028"
                     /translation="MTGVFDRRVPSIRSGDFQAPFQTSAAMHHPSQESPTLPESSATD
                     SDYYSPTGGAPHGYCSPTSASYGKALNPYQYQYHGVNGSAGSYPAKAYADYSYASSYH
                     QYGGAYNRVPSATNQPEKEVTEPEVRMVNGKPKKVRKPRTIYSSFQLAALQRRFQKTQ
                     YLALPERAELAASLGLTQTQVKIWFQNKRSKIKKIMKNGEMPPEHSPSSSDPMACNSP
                     QSPAVWEPQGSSRSLSHHPHAHPPTSNQSPASSYLENSASWYTSAASSINSHLPPPGS
                     LQHPLALASGTLY"
     exon            564..748
                     /gene="DLX5"
                     /gene_synonym="SHFM1; SHFM1D"
                     /inference="alignment:Splign:2.1.0"
     exon            749..1418
                     /gene="DLX5"
                     /gene_synonym="SHFM1; SHFM1D"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1394..1399
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DLX5"
                     /gene_synonym="SHFM1; SHFM1D"
                     /note="hexamer: AATAAA"
     polyA_site      1418
                     /gene="DLX5"
                     /gene_synonym="SHFM1; SHFM1D"
                     /note="major polyA site"
ORIGIN      
        1 agcagtcagc cggccggaga cagagacttc acgactccca gtctcctcct cgccgcggcc
       61 gccgcctcct ccttctctcc tcctcctctt cctcctcctc cctcgctccc acagccatgt
      121 ctgcttagac cagagcagcc ccacagccaa ctagggcagc tgccgccgcc acaacagcaa
      181 ggacagccgc tgccgccgcc cgtgagcgat gacaggagtg tttgacagaa gggtccccag
      241 catccgatcc ggcgacttcc aagctccgtt ccagacgtcc gcagctatgc accatccgtc
      301 tcaggaatcg ccaactttgc ccgagtcttc agctaccgat tctgactact acagccctac
      361 ggggggagcc ccgcacggct actgctctcc tacctcggct tcctatggca aagctctcaa
      421 cccctaccag tatcagtatc acggcgtgaa cggctccgcc gggagctacc cagccaaagc
      481 ttatgccgac tatagctacg ctagctccta ccaccagtac ggcggcgcct acaaccgcgt
      541 cccaagcgcc accaaccagc cagagaaaga agtgaccgag cccgaggtga gaatggtgaa
      601 tggcaaacca aagaaagttc gtaaacccag gactatttat tccagctttc agctggccgc
      661 attacagaga aggtttcaga agactcagta cctcgccttg ccggaacgcg ccgagctggc
      721 cgcctcgctg ggattgacac aaacacaggt gaaaatctgg tttcagaaca aaagatccaa
      781 gatcaagaag atcatgaaaa acggggagat gcccccggag cacagtccca gctccagcga
      841 cccaatggcg tgtaactcgc cgcagtctcc agcggtgtgg gagccccagg gctcgtcccg
      901 ctcgctcagc caccaccctc atgcccaccc tccgacctcc aaccagtccc cagcgtccag
      961 ctacctggag aactctgcat cctggtacac aagtgcagcc agctcaatca attcccacct
     1021 gccgccgccg ggctccttac agcacccgct ggcgctggcc tccgggacac tctattagat
     1081 gggctgctct ctcttactct cttttttggg actactgtgt tttgctgttc tagaaaatca
     1141 taaagaaagg aattcatatg gggaagttcg gaaaactgaa aaagattcat gtgtaaagct
     1201 tttttttgca tgtaagttat tgcatttcaa aagacccccc ctttttttac agaggacttt
     1261 ttttgcgcaa ctgtggacac tttcaatggt gccttgaaat ctatgacctc aacttttcaa
     1321 aagacttttt tcaatgttat tttagccatg taaataagtg tagatagagg aattaaactg
     1381 tatattctgg ataaataaaa ttatttcgac catgaaaa
//
