LOCUS       NM_153448               1495 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens ESX homeobox 1 (ESX1), mRNA.
ACCESSION   NM_153448
VERSION     NM_153448.4
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 1495)
  AUTHORS   Malcher,A., Graczyk,Z., Bauer,H., Stokowy,T., Berman,A.,
            Smolibowski,M., Blaszczyk,D., Jedrzejczak,P., Yatsenko,A.N. and
            Kurpisz,M.
  TITLE     ESX1 gene as a potential candidate responsible for male infertility
            in nonobstructive azoospermia
  JOURNAL   Sci Rep 13 (1), 16563 (2023)
   PUBMED   37783880
  REMARK    GeneRIF: ESX1 gene as a potential candidate responsible for male
            infertility in nonobstructive azoospermia.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1495)
  AUTHORS   Ma,Q., Du,Y., Luo,X., Ye,J. and Gui,Y.
  TITLE     Association of ESX1 gene variants with non-obstructive azoospermia
            in Chinese males
  JOURNAL   Sci Rep 11 (1), 4587 (2021)
   PUBMED   33633269
  REMARK    GeneRIF: Association of ESX1 gene variants with non-obstructive
            azoospermia in Chinese males.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1495)
  AUTHORS   Hashemi,M.S., Mozdarani,H., Ghaedi,K. and Nasr-Esfahani,M.H.
  TITLE     Could analysis of testis-specific genes, as biomarkers in seminal
            plasma, predict presence of focal spermatogenesis in
            non-obstructive azoospermia?
  JOURNAL   Andrologia 52 (2), e13483 (2020)
   PUBMED   31793700
  REMARK    GeneRIF: Could analysis of testis-specific genes, as biomarkers in
            seminal plasma, predict presence of focal spermatogenesis in
            non-obstructive azoospermia?
REFERENCE   4  (bases 1 to 1495)
  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   5  (bases 1 to 1495)
  AUTHORS   Pansa,A., Sirchia,S.M., Melis,S., Giacchetta,D., Castiglioni,M.,
            Colapietro,P., Fiori,S., Falcone,R., Paganini,L., Bonaparte,E.,
            Colpi,G., Miozzo,M. and Tabano,S.
  TITLE     ESX1 mRNA expression in seminal fluid is an indicator of residual
            spermatogenesis in non-obstructive azoospermic men
  JOURNAL   Hum Reprod 29 (12), 2620-2627 (2014)
   PUBMED   25316452
  REMARK    GeneRIF: ESX1 mRNA level decreases as the severity of spermatogenic
            defects increase in non-obstructive azoospermic men.
REFERENCE   6  (bases 1 to 1495)
  AUTHORS   Murthi,P., Doherty,V.L., Said,J.M., Donath,S., Brennecke,S.P. and
            Kalionis,B.
  TITLE     Homeobox gene ESX1L expression is decreased in human pre-term
            idiopathic fetal growth restriction
  JOURNAL   Mol Hum Reprod 12 (5), 335-340 (2006)
   PUBMED   16613891
  REMARK    GeneRIF: In FGR-affected placentae, ESX1L levels were lower than in
            gestation-matched controls, indicating a potential role for the
            ESX1L gene within the growth control mechanism of the fetus,
            through its effect on placental function.
REFERENCE   7  (bases 1 to 1495)
  AUTHORS   Yanagihara,M., Ishikawa,S., Naito,M., Nakajima,J., Aburatani,H. and
            Hatakeyama,M.
  TITLE     Paired-like homeoprotein ESXR1 acts as a sequence-specific
            transcriptional repressor of the human K-ras gene
  JOURNAL   Oncogene 24 (38), 5878-5887 (2005)
   PUBMED   15897875
REFERENCE   8  (bases 1 to 1495)
  AUTHORS   Figueiredo,A.L., Salles,M.G., Albano,R.M. and Porto,L.C.
  TITLE     Molecular and morphologic analyses of expression of ESX1L in
            different stages of human placental development
  JOURNAL   J Cell Mol Med 8 (4), 545-550 (2004)
   PUBMED   15601583
  REMARK    GeneRIF: ESX1L is expressed during all stages of placental
            development and is localized to sparse areas of trophoblast in
            terminal villi in association with cytotrophoblastic cells
REFERENCE   9  (bases 1 to 1495)
  AUTHORS   Ozawa,H., Ashizawa,S., Naito,M., Yanagihara,M., Ohnishi,N.,
            Maeda,T., Matsuda,Y., Jo,Y., Higashi,H., Kakita,A. and
            Hatakeyama,M.
  TITLE     Paired-like homeodomain protein ESXR1 possesses a cleavable
            C-terminal region that inhibits cyclin degradation
  JOURNAL   Oncogene 23 (39), 6590-6602 (2004)
   PUBMED   15235584
  REMARK    GeneRIF: proteolytic processing of ESXR1 plays a role in concerted
            regulation of the cell cycle and transcription in human cells
REFERENCE   10 (bases 1 to 1495)
  AUTHORS   Fohn,L.E. and Behringer,R.R.
  TITLE     ESX1L, a novel X chromosome-linked human homeobox gene expressed in
            the placenta and testis
  JOURNAL   Genomics 74 (1), 105-108 (2001)
   PUBMED   11374906
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL049631.7, AK097704.1 and
            BC053599.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_153448.3.
            
            Summary: This gene encodes a dual-function 65 kDa protein that
            undergoes proteolytic cleavage to produce a 45 kDa N-terminal
            fragment with a paired-like homeodomain and a 20 kDa C-terminal
            fragment with a proline-rich domain. The C-terminal fragment
            localizes to the cytoplasm while the N-terminal fragment localizes
            exclusively to the nucleus. In contrast to human, the mouse homolog
            has a novel PN/PF motif in the C-terminus and is paternally
            imprinted in placental tissue. This gene likely plays a role in
            placental development and spermatogenesis. [provided by RefSeq, Jan
            2010].
            
            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 :: BC053599.1, AY114148.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372588.4/ ENSP00000361669.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                AL049631.7         65308-65322         c
            16-26               AK097704.1         16-26
            27-1042             BC053599.1         1-1016
            1043-1123           AK097704.1         1043-1123
            1124-1495           BC053599.1         1098-1469
FEATURES             Location/Qualifiers
     source          1..1495
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.2"
     gene            1..1495
                     /gene="ESX1"
                     /gene_synonym="ESX1L; ESXR1"
                     /note="ESX homeobox 1"
                     /db_xref="GeneID:80712"
                     /db_xref="HGNC:HGNC:14865"
                     /db_xref="MIM:300154"
     exon            1..166
                     /gene="ESX1"
                     /gene_synonym="ESX1L; ESXR1"
                     /inference="alignment:Splign:2.1.0"
     CDS             85..1305
                     /gene="ESX1"
                     /gene_synonym="ESX1L; ESXR1"
                     /note="ESX1-related protein; extraembryonic,
                     spermatogenesis, homeobox 1 homolog"
                     /codon_start=1
                     /product="homeobox protein ESX1"
                     /protein_id="NP_703149.1"
                     /db_xref="CCDS:CCDS14516.1"
                     /db_xref="GeneID:80712"
                     /db_xref="HGNC:HGNC:14865"
                     /db_xref="MIM:300154"
                     /translation="MESLRGYTHSDIGYRSLAVGEDIEEVNDEKLTVTSLMARGGEDE
                     ENTRSKPEYGTEAENNVGTEGSVPSDDQDREGGGGHEPEQQQEEPPLTKPEQQQEEPP
                     LLELKQEQEEPPQTTVEGPQPAEGPQTAEGPQPPERKRRRRTAFTQFQLQELENFFDE
                     SQYPDVVARERLAARLNLTEDRVQVWFQNRRAKWKRNQRVLMLRNTATADLAHPLDMF
                     LGGAYYAAPALDPALCVHLVPQLPRPPVLPVPPMPPRPPMVPMPPRPPIAPMPPMAPV
                     PPGSRMAPVPPGPRMAPVPPWPPMAPVPPWPPMAPVPTGPPMAPVPPGPPMARVPPGP
                     PMARVPPGPPMAPLPPGPPMAPLPPGPPMAPLPPGPPMAPLPPRSHVPHTGLAPVHIT
                     WAPVINSYYACPFF"
     exon            167..590
                     /gene="ESX1"
                     /gene_synonym="ESX1L; ESXR1"
                     /inference="alignment:Splign:2.1.0"
     exon            591..636
                     /gene="ESX1"
                     /gene_synonym="ESX1L; ESXR1"
                     /inference="alignment:Splign:2.1.0"
     exon            637..1495
                     /gene="ESX1"
                     /gene_synonym="ESX1L; ESXR1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1473..1478
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ESX1"
                     /gene_synonym="ESX1L; ESXR1"
                     /note="hexamer: AATAAA"
     polyA_site      1495
                     /gene="ESX1"
                     /gene_synonym="ESX1L; ESXR1"
                     /note="major polyA site"
ORIGIN      
        1 agagccagtt ccaaccccgg gatcgccgcg gaaccacgca cagagtctgc agaagtgcac
       61 agctttatcg acagcgcttg aagcatggag tctcttcgcg ggtacaccca cagtgatatt
      121 ggctaccgca gcctggcagt cggcgaggac atcgaggaag tgaatgatga gaaacttacc
      181 gtgacctcgc tgatggcaag gggaggagag gacgaggaga atacacggtc caaacctgag
      241 tacggaacag aagcggaaaa caacgttggc acggaagggt ccgtcccctc ggacgaccaa
      301 gaccgtgagg gtggcggcgg ccacgagccg gagcaacagc aggaggagcc gcccctgacc
      361 aagccggagc aacagcagga ggagccgccc ctgctcgagc tgaagcaaga gcaggaggag
      421 ccgccccaga cgaccgtgga ggggccacag ccggcggagg ggccacaaac cgctgaggga
      481 ccacagcccc cagagaggaa acgccgccgc cgcaccgcgt tcacgcagtt tcagctgcag
      541 gagctagaga actttttcga tgaatctcaa tatcccgacg ttgtggcgcg agagagactt
      601 gcagcacgcc tgaatttgac tgaagacaga gtgcaggttt ggtttcagaa cagaagagcc
      661 aagtggaaac gaaatcagag ggtgctaatg ttgagaaaca ctgctactgc tgacctggcc
      721 caccctttgg acatgttctt gggtggggcc tattatgctg ctcctgctct ggatcctgct
      781 ttgtgtgttc atctggtgcc acaactacct agaccacctg tgctgcctgt gccacctatg
      841 ccacccaggc cacccatggt ccctatgcca cccaggccac ccatagcacc tatgccaccc
      901 atggcgcctg tgccacccgg ctcacgcatg gcgcctgtgc cacccgggcc acgcatggcg
      961 cctgtgccac cctggccgcc catggcgcct gtgccaccct ggccgcccat ggcgcctgtg
     1021 ccaaccgggc cgcccatggc gcctgtgcca cccgggccgc ccatggcgcg tgtgccaccc
     1081 gggccgccca tggcgcgtgt gccacccggg ccgcccatgg cgcctctgcc acccgggccg
     1141 cccatggcgc ctctgccacc cgggccgccc atggcgcctc tgccacccgg gccgcccatg
     1201 gcgcctctgc cacccaggtc acatgtgcct cacactggcc tggctcctgt acacatcaca
     1261 tgggcccctg tcatcaacag ttattatgca tgtccctttt tctaaagtaa ggtattcata
     1321 acagtttttc caaagttctt tcctgccaga tagaaattgt gcacagcaca gcatcaagta
     1381 attcgttaga tgcttgttaa atgaagtggg taggtgaaca aagttaacga atgccctgtt
     1441 atttttgtag gccacataat tgtagtattt tcaataaaga tgtgacttaa tagta
//
