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Q8N693

- ESX1_HUMAN

UniProt

Q8N693 - ESX1_HUMAN

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Protein

Homeobox protein ESX1

Gene

ESX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.2 Publications

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi139 – 19860HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. RNA polymerase II regulatory region sequence-specific DNA binding Source: NTNU_SB
  2. RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription Source: NTNU_SB
  3. sequence-specific DNA binding Source: UniProtKB

GO - Biological processi

  1. labyrinthine layer blood vessel development Source: Ensembl
  2. labyrinthine layer morphogenesis Source: Ensembl
  3. negative regulation of transcription, DNA-templated Source: UniProtKB
  4. negative regulation of transcription from RNA polymerase II promoter Source: NTNU_SB
  5. regulation of cell cycle Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein ESX1
Alternative name(s):
Extraembryonic, spermatogenesis, homeobox 1
Cleaved into the following 2 chains:
Gene namesi
Name:ESX1
Synonyms:ESX1L, ESX1R
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:14865. ESX1.

Subcellular locationi

Cytoplasm 1 Publication. Nucleus 1 PublicationPROSITE-ProRule annotation
Note: ESXR1-N localizes specifically to the nucleus while ESXR1-C localizes specifically to the cytoplasm.

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27892.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini? – 406Homeobox protein ESX1-CPRO_0000386626
Chaini1 – 406406Homeobox protein ESX1PRO_0000048876Add
BLAST
Chaini1 – ?Homeobox protein ESX1-NPRO_0000386625

Post-translational modificationi

Undergoes proteolytic cleavage; produces a 45 kDa N-terminal homeodomain-containing fragment (ESXR1-N) and a 20 kDa C-terminal fragment (ESXR1-C).1 Publication

Proteomic databases

PaxDbiQ8N693.
PRIDEiQ8N693.

PTM databases

PhosphoSiteiQ8N693.

Expressioni

Tissue specificityi

Expressed in placenta and testis. Expressed in testicular germ cell tumors.2 Publications

Gene expression databases

BgeeiQ8N693.
CleanExiHS_ESX1.
ExpressionAtlasiQ8N693. baseline and differential.
GenevestigatoriQ8N693.

Organism-specific databases

HPAiHPA051992.

Interactioni

Protein-protein interaction databases

BioGridi123270. 3 interactions.
IntActiQ8N693. 3 interactions.
MINTiMINT-7970367.
STRINGi9606.ENSP00000361669.

Structurei

3D structure databases

ProteinModelPortaliQ8N693.
SMRiQ8N693. Positions 138-199.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati244 – 25291
Repeati253 – 26192
Repeati262 – 27093
Repeati271 – 27994
Repeati280 – 28895
Repeati289 – 29796
Repeati298 – 30697
Repeati307 – 31598
Repeati316 – 32499
Repeati325 – 333910
Repeati334 – 342911
Repeati343 – 351912
Repeati352 – 360913
Repeati361 – 369914
Repeati370 – 378915

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni244 – 37813515 X 9 AA tandem repeats of P-P-x-x-P-x-P-P-xAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi138 – 1436Nuclear localization signalSequence Analysis

Sequence similaritiesi

Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox, Repeat

Phylogenomic databases

eggNOGiNOG264325.
GeneTreeiENSGT00770000120623.
HOGENOMiHOG000198273.
HOVERGENiHBG084082.
InParanoidiQ8N693.
KOiK18491.
OMAiGPPMTPM.
OrthoDBiEOG76DTVC.
PhylomeDBiQ8N693.
TreeFamiTF315976.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR013847. POU.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00028. POUDOMAIN.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q8N693-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MESLRGYTHS DIGYRSLAVG EDIEEVNDEK LTVTSLMARG GEDEENTRSK
60 70 80 90 100
PEYGTEAENN VGTEGSVPSD DQDREGGGGH EPEQQQEEPP LTKPEQQQEE
110 120 130 140 150
PPLLELKQEQ EEPPQTTVEG PQPAEGPQTA EGPQPPERKR RRRTAFTQFQ
160 170 180 190 200
LQELENFFDE SQYPDVVARE RLAARLNLTE DRVQVWFQNR RAKWKRNQRV
210 220 230 240 250
LMLRNTATAD LAHPLDMFLG GAYYAAPALD PALCVHLVPQ LPRPPVLPVP
260 270 280 290 300
PMPPRPPMVP MPPRPPIAPM PPMAPVPPGS RMAPVPPGPR MAPVPPWPPM
310 320 330 340 350
APVPPWPPMA PVPTGPPMAP VPPGPPMARV PPGPPMARVP PGPPMAPLPP
360 370 380 390 400
GPPMAPLPPG PPMAPLPPGP PMAPLPPRSH VPHTGLAPVH ITWAPVINSY

YACPFF
Length:406
Mass (Da):44,297
Last modified:October 17, 2006 - v3
Checksum:i7013E3986F1148FA
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti320 – 3201P → R in AAH42633. (PubMed:15489334)Curated
Sequence conflicti320 – 3201P → R in AAH53599. (PubMed:15489334)Curated
Sequence conflicti338 – 3392RV → PL in AAH42633. (PubMed:15489334)Curated
Sequence conflicti338 – 3392RV → PL in AAH53599. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti314 – 3141T → P.
Corresponds to variant rs9697856 [ dbSNP | Ensembl ].
VAR_059352

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS14516.1.
RefSeqiNP_703149.1. NM_153448.3.
UniGeneiHs.223782.

Genome annotation databases

EnsembliENST00000372588; ENSP00000361669; ENSG00000123576.
GeneIDi80712.
KEGGihsa:80712.
UCSCiuc004ely.3. human.

Polymorphism databases

DMDMi116241356.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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 .
CCDSi CCDS14516.1.
RefSeqi NP_703149.1. NM_153448.3.
UniGenei Hs.223782.

3D structure databases

ProteinModelPortali Q8N693.
SMRi Q8N693. Positions 138-199.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123270. 3 interactions.
IntActi Q8N693. 3 interactions.
MINTi MINT-7970367.
STRINGi 9606.ENSP00000361669.

PTM databases

PhosphoSitei Q8N693.

Polymorphism databases

DMDMi 116241356.

Proteomic databases

PaxDbi Q8N693.
PRIDEi Q8N693.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000372588 ; ENSP00000361669 ; ENSG00000123576 .
GeneIDi 80712.
KEGGi hsa:80712.
UCSCi uc004ely.3. human.

Organism-specific databases

CTDi 80712.
GeneCardsi GC0XM103494.
HGNCi HGNC:14865. ESX1.
HPAi HPA051992.
MIMi 300154. gene.
neXtProti NX_Q8N693.
PharmGKBi PA27892.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG264325.
GeneTreei ENSGT00770000120623.
HOGENOMi HOG000198273.
HOVERGENi HBG084082.
InParanoidi Q8N693.
KOi K18491.
OMAi GPPMTPM.
OrthoDBi EOG76DTVC.
PhylomeDBi Q8N693.
TreeFami TF315976.

Miscellaneous databases

GeneWikii ESX1.
GenomeRNAii 80712.
NextBioi 71013.
PROi Q8N693.
SOURCEi Search...

Gene expression databases

Bgeei Q8N693.
CleanExi HS_ESX1.
ExpressionAtlasi Q8N693. baseline and differential.
Genevestigatori Q8N693.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR013847. POU.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
[Graphical view ]
PRINTSi PR00028. POUDOMAIN.
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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.

Entry informationi

Entry nameiESX1_HUMAN
AccessioniPrimary (citable) accession number: Q8N693
Secondary accession number(s): B0QYU3, Q7Z6K7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: October 17, 2006
Last modified: November 26, 2014
This is version 106 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3