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Homeobox protein ESX1 (Extraembryonic, spermatogenesis, homeobox 1) [Cleaved into: Homeobox protein ESX1-N; Homeobox protein ESX1-C]

 ESX1_HUMAN              Reviewed;         406 AA.
Q8N693; B0QYU3; Q7Z6K7;
07-JUN-2004, integrated into UniProtKB/Swiss-Prot.
17-OCT-2006, sequence version 3.
23-MAY-2018, entry version 132.
RecName: Full=Homeobox protein ESX1;
AltName: Full=Extraembryonic, spermatogenesis, homeobox 1;
Contains:
RecName: Full=Homeobox protein ESX1-N;
Contains:
RecName: Full=Homeobox protein ESX1-C;
Name=ESX1; Synonyms=ESX1L, ESX1R;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
TISSUE=Germ cell;
PubMed=11374906; DOI=10.1006/geno.2001.6532;
Fohn L.E., Behringer R.R.;
"ESX1L, a novel X chromosome-linked human homeobox gene expressed in
the placenta and testis.";
Genomics 74:105-108(2001).
[2]
NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, PROTEOLYTIC PROCESSING,
SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
PubMed=15235584; DOI=10.1038/sj.onc.1207884;
Ozawa H., Ashizawa S., Naito M., Yanagihara M., Ohnishi N., Maeda T.,
Matsuda Y., Jo Y., Higashi H., Kakita A., Hatakeyama M.;
"Paired-like homeodomain protein ESXR1 possesses a cleavable C-
terminal region that inhibits cyclin degradation.";
Oncogene 23:6590-6602(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15772651; DOI=10.1038/nature03440;
Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A.,
Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G.,
Jones M.C., Hurles M.E., Andrews T.D., Scott C.E., Searle S.,
Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R.,
Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L.,
Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A.,
Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S.,
Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R.,
Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M.,
Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N.,
Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D.,
Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W.,
Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C.,
Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C.,
Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
Corby N., Connor R.E., David R., Davies J., Davis C., Davis J.,
Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S.,
Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I.,
Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L.,
Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P.,
Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S.,
Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A.,
Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J.,
Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J.,
Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S.,
de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z.,
Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C.,
Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W.,
Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T.,
Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I.,
Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N.,
Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J.,
Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E.,
Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S.,
Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T.,
Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S.,
Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L.,
Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A.,
Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L.,
Williams G., Williams L., Williamson A., Williamson H., Wilming L.,
Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H.,
Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A.,
Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A.,
Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T.,
Gibbs R.A., Beck S., Rogers J., Bentley D.R.;
"The DNA sequence of the human X chromosome.";
Nature 434:325-337(2005).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
FUNCTION.
PubMed=15897875; DOI=10.1038/sj.onc.1208736;
Yanagihara M., Ishikawa S., Naito M., Nakajima J., Aburatani H.,
Hatakeyama M.;
"Paired-like homeoprotein ESXR1 acts as a sequence-specific
transcriptional repressor of the human K-ras gene.";
Oncogene 24:5878-5887(2005).
-!- FUNCTION: May coordinately regulate cell cycle progression and
transcription during spermatogenesis. Inhibits degradation of
polyubiquitinated cyclin A and cyclin B1 and thereby arrests the
cell cycle at early M phase. ESXR1-N acts as a transcriptional
repressor. Binds to the sequence 5'-TAATGTTATTA-3' which is
present within the first intron of the KRAS gene and inhibits its
expression. ESXR1-C has the ability to inhibit cyclin turnover.
{ECO:0000269|PubMed:15235584, ECO:0000269|PubMed:15897875}.
-!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15235584}.
Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108,
ECO:0000269|PubMed:15235584}. Note=ESXR1-N localizes specifically
to the nucleus while ESXR1-C localizes specifically to the
cytoplasm.
-!- TISSUE SPECIFICITY: Expressed in placenta and testis. Expressed in
testicular germ cell tumors. {ECO:0000269|PubMed:11374906,
ECO:0000269|PubMed:15235584}.
-!- PTM: Undergoes proteolytic cleavage; produces a 45 kDa N-terminal
homeodomain-containing fragment (ESXR1-N) and a 20 kDa C-terminal
fragment (ESXR1-C). {ECO:0000269|PubMed:15235584}.
-----------------------------------------------------------------------
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EMBL; AY114148; AAM62141.1; -; mRNA.
EMBL; AL049631; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471120; EAX02755.1; -; Genomic_DNA.
EMBL; BC042633; AAH42633.1; -; mRNA.
EMBL; BC053599; AAH53599.1; -; mRNA.
CCDS; CCDS14516.1; -.
RefSeq; NP_703149.1; NM_153448.3.
UniGene; Hs.223782; -.
ProteinModelPortal; Q8N693; -.
SMR; Q8N693; -.
BioGrid; 123270; 2.
IntAct; Q8N693; 3.
MINT; Q8N693; -.
STRING; 9606.ENSP00000361669; -.
iPTMnet; Q8N693; -.
PhosphoSitePlus; Q8N693; -.
BioMuta; ESX1; -.
DMDM; 116241356; -.
EPD; Q8N693; -.
PaxDb; Q8N693; -.
PeptideAtlas; Q8N693; -.
PRIDE; Q8N693; -.
Ensembl; ENST00000372588; ENSP00000361669; ENSG00000123576.
GeneID; 80712; -.
KEGG; hsa:80712; -.
UCSC; uc004ely.4; human.
CTD; 80712; -.
DisGeNET; 80712; -.
EuPathDB; HostDB:ENSG00000123576.5; -.
GeneCards; ESX1; -.
HGNC; HGNC:14865; ESX1.
HPA; HPA051992; -.
MIM; 300154; gene.
neXtProt; NX_Q8N693; -.
OpenTargets; ENSG00000123576; -.
PharmGKB; PA27892; -.
eggNOG; KOG0490; Eukaryota.
eggNOG; ENOG410YIJ3; LUCA.
GeneTree; ENSGT00820000127081; -.
HOGENOM; HOG000198273; -.
HOVERGEN; HBG084082; -.
InParanoid; Q8N693; -.
KO; K18491; -.
OMA; MAPVPPW; -.
OrthoDB; EOG091G0L2D; -.
PhylomeDB; Q8N693; -.
TreeFam; TF315976; -.
GeneWiki; ESX1; -.
GenomeRNAi; 80712; -.
PRO; PR:Q8N693; -.
Proteomes; UP000005640; Chromosome X.
Bgee; ENSG00000123576; -.
CleanEx; HS_ESX1; -.
Genevisible; Q8N693; HS.
GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
GO; GO:0016607; C:nuclear speck; IDA:HPA.
GO; GO:0005634; C:nucleus; IDA:UniProtKB.
GO; GO:0000977; F:RNA polymerase II regulatory region sequence-specific DNA binding; IMP:NTNU_SB.
GO; GO:0000981; F:RNA polymerase II transcription factor activity, sequence-specific DNA binding; ISA:NTNU_SB.
GO; GO:0043565; F:sequence-specific DNA binding; IDA:UniProtKB.
GO; GO:0001227; F:transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
GO; GO:0045892; P:negative regulation of transcription, DNA-templated; IDA:UniProtKB.
GO; GO:0051726; P:regulation of cell cycle; IDA:UniProtKB.
GO; GO:0006351; P:transcription, DNA-templated; IEA:UniProtKB-KW.
CDD; cd00086; homeodomain; 1.
InterPro; IPR009057; Homeobox-like_sf.
InterPro; IPR017970; Homeobox_CS.
InterPro; IPR001356; Homeobox_dom.
InterPro; IPR013847; POU.
Pfam; PF00046; Homeobox; 1.
PRINTS; PR00028; POUDOMAIN.
SMART; SM00389; HOX; 1.
SUPFAM; SSF46689; SSF46689; 1.
PROSITE; PS00027; HOMEOBOX_1; 1.
PROSITE; PS50071; HOMEOBOX_2; 1.
1: Evidence at protein level;
Complete proteome; Cytoplasm; DNA-binding; Homeobox; Nucleus;
Polymorphism; Reference proteome; Repeat; Repressor; Transcription;
Transcription regulation.
CHAIN 1 406 Homeobox protein ESX1.
/FTId=PRO_0000048876.
CHAIN 1 ? Homeobox protein ESX1-N.
/FTId=PRO_0000386625.
CHAIN ? 406 Homeobox protein ESX1-C.
/FTId=PRO_0000386626.
REPEAT 244 252 1.
REPEAT 253 261 2.
REPEAT 262 270 3.
REPEAT 271 279 4.
REPEAT 280 288 5.
REPEAT 289 297 6.
REPEAT 298 306 7.
REPEAT 307 315 8.
REPEAT 316 324 9.
REPEAT 325 333 10.
REPEAT 334 342 11.
REPEAT 343 351 12.
REPEAT 352 360 13.
REPEAT 361 369 14.
REPEAT 370 378 15.
DNA_BIND 139 198 Homeobox. {ECO:0000255|PROSITE-
ProRule:PRU00108}.
REGION 244 378 15 X 9 AA tandem repeats of P-P-x-x-P-x-
P-P-x.
MOTIF 138 143 Nuclear localization signal.
{ECO:0000255}.
VARIANT 314 314 T -> P (in dbSNP:rs9697856).
/FTId=VAR_059352.
CONFLICT 320 320 P -> R (in Ref. 5; AAH42633/AAH53599).
{ECO:0000305}.
CONFLICT 338 339 RV -> PL (in Ref. 5; AAH42633/AAH53599).
{ECO:0000305}.
SEQUENCE 406 AA; 44297 MW; 7013E3986F1148FA CRC64;
MESLRGYTHS DIGYRSLAVG EDIEEVNDEK LTVTSLMARG GEDEENTRSK PEYGTEAENN
VGTEGSVPSD DQDREGGGGH EPEQQQEEPP LTKPEQQQEE PPLLELKQEQ EEPPQTTVEG
PQPAEGPQTA EGPQPPERKR RRRTAFTQFQ LQELENFFDE SQYPDVVARE RLAARLNLTE
DRVQVWFQNR RAKWKRNQRV LMLRNTATAD LAHPLDMFLG GAYYAAPALD PALCVHLVPQ
LPRPPVLPVP PMPPRPPMVP MPPRPPIAPM PPMAPVPPGS RMAPVPPGPR MAPVPPWPPM
APVPPWPPMA PVPTGPPMAP VPPGPPMARV PPGPPMARVP PGPPMAPLPP GPPMAPLPPG
PPMAPLPPGP PMAPLPPRSH VPHTGLAPVH ITWAPVINSY YACPFF


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