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Q8N693 (ESX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 103. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Homeobox protein ESX1
Alternative name(s):
Extraembryonic, spermatogenesis, homeobox 1

Cleaved into the following 2 chains:

  1. Homeobox protein ESX1-N
  2. Homeobox protein ESX1-C
Gene names
Name:ESX1
Synonyms:ESX1L, ESX1R
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length406 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.2 Ref.6

Subcellular location

Cytoplasm. Nucleus. Note: ESXR1-N localizes specifically to the nucleus while ESXR1-C localizes specifically to the cytoplasm. Ref.2

Tissue specificity

Expressed in placenta and testis. Expressed in testicular germ cell tumors. Ref.1 Ref.2

Post-translational modification

Undergoes proteolytic cleavage; produces a 45 kDa N-terminal homeodomain-containing fragment (ESXR1-N) and a 20 kDa C-terminal fragment (ESXR1-C).

Sequence similarities

Contains 1 homeobox DNA-binding domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 406406Homeobox protein ESX1
PRO_0000048876
Chain1 – ?Homeobox protein ESX1-NPRO_0000386625
Chain? – 406Homeobox protein ESX1-CPRO_0000386626

Regions

Repeat244 – 25291
Repeat253 – 26192
Repeat262 – 27093
Repeat271 – 27994
Repeat280 – 28895
Repeat289 – 29796
Repeat298 – 30697
Repeat307 – 31598
Repeat316 – 32499
Repeat325 – 333910
Repeat334 – 342911
Repeat343 – 351912
Repeat352 – 360913
Repeat361 – 369914
Repeat370 – 378915
DNA binding139 – 19860Homeobox
Region244 – 37813515 X 9 AA tandem repeats of P-P-x-x-P-x-P-P-x
Motif138 – 1436Nuclear localization signal Potential

Natural variations

Natural variant3141T → P.
Corresponds to variant rs9697856 [ dbSNP | Ensembl ].
VAR_059352

Experimental info

Sequence conflict3201P → R in AAH42633. Ref.5
Sequence conflict3201P → R in AAH53599. Ref.5
Sequence conflict338 – 3392RV → PL in AAH42633. Ref.5
Sequence conflict338 – 3392RV → PL in AAH53599. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Q8N693 [UniParc].

Last modified October 17, 2006. Version 3.
Checksum: 7013E3986F1148FA

FASTA40644,297
        10         20         30         40         50         60 
MESLRGYTHS DIGYRSLAVG EDIEEVNDEK LTVTSLMARG GEDEENTRSK PEYGTEAENN 

        70         80         90        100        110        120 
VGTEGSVPSD DQDREGGGGH EPEQQQEEPP LTKPEQQQEE PPLLELKQEQ EEPPQTTVEG 

       130        140        150        160        170        180 
PQPAEGPQTA EGPQPPERKR RRRTAFTQFQ LQELENFFDE SQYPDVVARE RLAARLNLTE 

       190        200        210        220        230        240 
DRVQVWFQNR RAKWKRNQRV LMLRNTATAD LAHPLDMFLG GAYYAAPALD PALCVHLVPQ 

       250        260        270        280        290        300 
LPRPPVLPVP PMPPRPPMVP MPPRPPIAPM PPMAPVPPGS RMAPVPPGPR MAPVPPWPPM 

       310        320        330        340        350        360 
APVPPWPPMA PVPTGPPMAP VPPGPPMARV PPGPPMARVP PGPPMAPLPP GPPMAPLPPG 

       370        380        390        400 
PPMAPLPPGP PMAPLPPRSH VPHTGLAPVH ITWAPVINSY YACPFF 

« Hide

References

« Hide 'large scale' references
[1]"ESX1L, a novel X chromosome-linked human homeobox gene expressed in the placenta and testis."
Fohn L.E., Behringer R.R.
Genomics 74:105-108(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
Tissue: Germ cell.
[2]"Paired-like homeodomain protein ESXR1 possesses a cleavable C-terminal region that inhibits cyclin degradation."
Ozawa H., Ashizawa S., Naito M., Yanagihara M., Ohnishi N., Maeda T., Matsuda Y., Jo Y., Higashi H., Kakita A., Hatakeyama M.
Oncogene 23:6590-6602(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, PROTEOLYTIC PROCESSING, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[3]"The DNA sequence of the human X chromosome."
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. expand/collapse author list , 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.
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]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. expand/collapse author list , 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
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain.
[6]"Paired-like homeoprotein ESXR1 acts as a sequence-specific transcriptional repressor of the human K-ras gene."
Yanagihara M., Ishikawa S., Naito M., Nakajima J., Aburatani H., Hatakeyama M.
Oncogene 24:5878-5887(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY114148 mRNA. Translation: AAM62141.1.
AL049631 Genomic DNA. Translation: CAQ08095.1.
CH471120 Genomic DNA. Translation: EAX02755.1.
BC042633 mRNA. Translation: AAH42633.1.
BC053599 mRNA. Translation: AAH53599.1.
CCDSCCDS14516.1.
RefSeqNP_703149.1. NM_153448.3.
UniGeneHs.223782.

3D structure databases

ProteinModelPortalQ8N693.
SMRQ8N693. Positions 138-199.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123270. 3 interactions.
IntActQ8N693. 3 interactions.
MINTMINT-7970367.
STRING9606.ENSP00000361669.

PTM databases

PhosphoSiteQ8N693.

Polymorphism databases

DMDM116241356.

Proteomic databases

PaxDbQ8N693.
PRIDEQ8N693.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000372588; ENSP00000361669; ENSG00000123576.
ENST00000595622; ENSP00000472672; ENSG00000268259.
GeneID80712.
KEGGhsa:80712.
UCSCuc004ely.3. human.

Organism-specific databases

CTD80712.
GeneCardsGC0XM103494.
HGNCHGNC:14865. ESX1.
HPAHPA051992.
MIM300154. gene.
neXtProtNX_Q8N693.
PharmGKBPA27892.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG264325.
HOGENOMHOG000198273.
HOVERGENHBG084082.
InParanoidQ8N693.
OMAGPPMTPM.
OrthoDBEOG76DTVC.
PhylomeDBQ8N693.
TreeFamTF315976.

Gene expression databases

ArrayExpressQ8N693.
BgeeQ8N693.
CleanExHS_ESX1.
GenevestigatorQ8N693.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR013847. POU.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSPR00028. POUDOMAIN.
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiESX1.
GenomeRNAi80712.
NextBio71013.
PROQ8N693.
SOURCESearch...

Entry information

Entry nameESX1_HUMAN
AccessionPrimary (citable) accession number: Q8N693
Secondary accession number(s): B0QYU3, Q7Z6K7
Entry history
Integrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: October 17, 2006
Last modified: July 9, 2014
This is version 103 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM