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Q9NZC4 (EHF_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 112. 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·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
ETS homologous factor

Short name=hEHF
Alternative name(s):
ETS domain-containing transcription factor
Epithelium-specific Ets transcription factor 3
Short name=ESE-3
Gene names
Name:EHF
Synonyms:ESE3, ESE3B, ESEJ
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length300 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Transcriptional activator that may play a role in regulating epithelial cell differentiation and proliferation. May act as a repressor for a specific subset of ETS/AP-1-responsive genes and as a modulator of the nuclear response to mitogen-activated protein kinase signaling cascades. Binds to DNA sequences containing the consensus nucleotide core sequence GGAA. Involved in regulation of TNFRSF10B/DR5 expression through Ets-binding sequences on the TNFRSF10B/DR5 promoter. May contribute to development and carcinogenesis by acting as a tumor suppressor gene or anti-oncogene. Ref.1 Ref.2 Ref.3 Ref.10 Ref.11

Subcellular location

Nucleus Ref.3 Ref.10.

Tissue specificity

Expressed exclusively in tissues with a high content of epithelial cells. Highly expressed in salivary gland, mammary gland, prostate, and lung. Weakly expressed in kidney and colon. Not detected in heart, brain, placenta, liver, skeletal muscle, spleen, thymus, testis, ovary, small intestine or peripheral blood leukocytes. Ref.1 Ref.2 Ref.3 Ref.10

Induction

By IL1B/interleukin-1 beta and TNF in bronchial smooth muscle cells and fibroblasts. By IL10/interleukin-10 and IFNG/IFN-gamma in monocyte-derived dendritic cells. Ref.10 Ref.12

Domain

The PNT domain acts as a transcriptional activator By similarity. UniProtKB O70273

Sequence similarities

Belongs to the ETS family.

Contains 1 ETS DNA-binding domain.

Contains 1 PNT (pointed) domain.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 Ref.1 Ref.2 Ref.3 (identifier: Q9NZC4-1)

Also known as: ESE-3B;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 Ref.2 (identifier: Q9NZC4-2)

Also known as: ESE-3A;

The sequence of this isoform differs from the canonical sequence as follows:
     159-181: Missing.
Isoform 3 (identifier: Q9NZC4-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MGLPERRGLVLLLSLAEILFKIM
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 300300ETS homologous factor
PRO_0000257969

Regions

Domain29 – 11587PNT
DNA binding207 – 28983ETS

Natural variations

Alternative sequence11M → MGLPERRGLVLLLSLAEILF KIM in isoform 3.
VSP_046373
Alternative sequence159 – 18123Missing in isoform 2. Ref.2
VSP_052190
Natural variant961A → V.
Corresponds to variant rs9804460 [ dbSNP | Ensembl ].
VAR_048941

Experimental info

Sequence conflict401G → S in AAD30990. Ref.2
Sequence conflict401G → S in AAD30991. Ref.2
Sequence conflict1631S → G in AAD30991. Ref.2
Sequence conflict1691A → V in AAD30991. Ref.2
Sequence conflict1961K → E in AAF06998. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (ESE-3B) [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: 5CABB38BAF852ED0

FASTA30034,892
        10         20         30         40         50         60 
MILEGGGVMN LNPGNNLLHQ PPAWTDSYST CNVSSGFFGG QWHEIHPQYW TKYQVWEWLQ 

        70         80         90        100        110        120 
HLLDTNQLDA NCIPFQEFDI NGEHLCSMSL QEFTRAAGTA GQLLYSNLQH LKWNGQCSSD 

       130        140        150        160        170        180 
LFQSTHNVIV KTEQTEPSIM NTWKDENYLY DTNYGSTVDL LDSKTFCRAQ ISMTTTSHLP 

       190        200        210        220        230        240 
VAESPDMKKE QDPPAKCHTK KHNPRGTHLW EFIRDILLNP DKNPGLIKWE DRSEGVFRFL 

       250        260        270        280        290        300 
KSEAVAQLWG KKKNNSSMTY EKLSRAMRYY YKREILERVD GRRLVYKFGK NARGWRENEN 

« Hide

Isoform 2 (ESE-3A) [UniParc].

Checksum: 3BF620E8F1164811
Show »

FASTA27732,345
Isoform 3 [UniParc].

Checksum: 62D08E04E9C0FFDE
Show »

FASTA32237,356

References

« Hide 'large scale' references
[1]"Human chromosomal localization, tissue/tumor expression, and regulatory function of the ets family gene EHF."
Kleinbaum L.A., Duggan C., Ferreira E., Coffey G.P., Buttice G., Burton F.H.
Biochem. Biophys. Res. Commun. 264:119-126(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, ALTERNATIVE SPLICING (ISOFORM 2), TISSUE SPECIFICITY.
Tissue: Prostate.
[2]"ESE-3, a novel member of an epithelium-specific ets transcription factor subfamily, demonstrates different target gene specificity from ESE-1."
Kas K., Finger E., Grall F., Gu X., Akbarali Y., Boltax J., Weiss A., Oettgen P., Kapeller R., Libermann T.A.
J. Biol. Chem. 275:2986-2998(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), FUNCTION, TISSUE SPECIFICITY.
Tissue: Prostate.
[3]"The epithelium-specific ETS protein EHF/ESE-3 is a context-dependent transcriptional repressor downstream of MAPK signaling cascades."
Tugores A., Le J., Sorokina I., Snijders A.J., Duyao M., Reddy P.S., Carlee L., Ronshaugen M., Mushegian A., Watanaskul T., Chu S., Buckler A., Emtage S., McCormick M.K.
J. Biol. Chem. 276:20397-20406(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[4]"Up-regulation of the epithelial-specific transcription factor Genes hEHF and ESX in advanced prostate cancer."
Mitchell S.C., Levin E., Hubert R., Yeramian C., Saffran D.C., Afar D.E.H.
Submitted (NOV-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[5]"New human ESE3B coding sequence from H441 cells."
Lei W., Harrod K.S.
Submitted (JAN-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[6]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Trachea.
[7]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]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].
[9]"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] (ISOFORM 1).
Tissue: Skin.
[10]"Constitutive and cytokine-induced expression of the ETS transcription factor ESE-3 in the lung."
Silverman E.S., Baron R.M., Palmer L.J., Le L., Hallock A., Subramaniam V., Riese R.J., McKenna M.D., Gu X., Libermann T.A., Tugores A., Haley K.J., Shore S., Drazen J.M., Weiss S.T.
Am. J. Respir. Cell Mol. Biol. 27:697-704(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INDUCTION.
[11]"ESE-3 transcription factor is involved in the expression of death receptor (DR)-5 through putative Ets sites."
Lim J.H., Cho J.-Y., Park Y.B., Park J.-W., Kwon T.K.
Biochem. Biophys. Res. Commun. 350:736-741(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[12]"Epithelial-specific transcription factor ESE-3 is involved in the development of monocyte-derived DCs."
Appel S., Bringmann A., Grunebach F., Weck M.M., Bauer J., Brossart P.
Blood 107:3265-3270(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: INDUCTION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF170583 mRNA. Translation: AAF06998.1.
AF124438 mRNA. Translation: AAD30990.1.
AF124439 mRNA. Translation: AAD30991.1.
AF212848 mRNA. Translation: AAF61670.1.
AF203977 mRNA. Translation: AAG35644.1.
AY882601 mRNA. Translation: AAW80658.1.
AK310867 mRNA. No translation available.
AC087783 Genomic DNA. No translation available.
AL157952 Genomic DNA. Translation: CAC12700.1.
AL157952 Genomic DNA. Translation: CAC12701.1.
CH471064 Genomic DNA. Translation: EAW68162.1.
CH471064 Genomic DNA. Translation: EAW68163.1.
CH471064 Genomic DNA. Translation: EAW68164.1.
CH471064 Genomic DNA. Translation: EAW68165.1.
CH471064 Genomic DNA. Translation: EAW68166.1.
BC038995 mRNA. Translation: AAH38995.1.
PIRJC7115.
RefSeqNP_001193544.1. NM_001206615.1.
NP_001193545.1. NM_001206616.1.
NP_036285.2. NM_012153.5.
XP_005252917.1. XM_005252860.1.
XP_005252919.1. XM_005252862.1.
UniGeneHs.653859.

3D structure databases

ProteinModelPortalQ9NZC4.
SMRQ9NZC4. Positions 4-115, 206-299.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117675. 2 interactions.
IntActQ9NZC4. 1 interaction.
MINTMINT-8247463.
STRING9606.ENSP00000257831.

PTM databases

PhosphoSiteQ9NZC4.

Polymorphism databases

DMDM74762761.

Proteomic databases

PaxDbQ9NZC4.
PRIDEQ9NZC4.

Protocols and materials databases

DNASU26298.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000257831; ENSP00000257831; ENSG00000135373. [Q9NZC4-1]
ENST00000450654; ENSP00000399733; ENSG00000135373. [Q9NZC4-2]
ENST00000530286; ENSP00000433508; ENSG00000135373. [Q9NZC4-1]
ENST00000531794; ENSP00000435835; ENSG00000135373. [Q9NZC4-3]
ENST00000533754; ENSP00000435837; ENSG00000135373. [Q9NZC4-1]
GeneID26298.
KEGGhsa:26298.
UCSCuc001mvr.2. human. [Q9NZC4-1]
uc009yke.2. human. [Q9NZC4-2]

Organism-specific databases

CTD26298.
GeneCardsGC11P034599.
HGNCHGNC:3246. EHF.
MIM605439. gene.
neXtProtNX_Q9NZC4.
PharmGKBPA27681.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG307806.
HOVERGENHBG074143.
InParanoidQ9NZC4.
KOK17102.
OMANQLDANC.
OrthoDBEOG7M0NRR.
PhylomeDBQ9NZC4.
TreeFamTF318679.

Gene expression databases

ArrayExpressQ9NZC4.
BgeeQ9NZC4.
CleanExHS_EHF.
GenevestigatorQ9NZC4.

Family and domain databases

Gene3D1.10.10.10. 1 hit.
1.10.150.50. 1 hit.
InterProIPR000418. Ets_dom.
IPR003118. Pointed_dom.
IPR013761. SAM/pointed.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamPF00178. Ets. 1 hit.
PF02198. SAM_PNT. 1 hit.
[Graphical view]
PRINTSPR00454. ETSDOMAIN.
SMARTSM00413. ETS. 1 hit.
SM00251. SAM_PNT. 1 hit.
[Graphical view]
SUPFAMSSF47769. SSF47769. 1 hit.
PROSITEPS50061. ETS_DOMAIN_3. 1 hit.
PS51433. PNT. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSEHF. human.
GeneWikiEHF_(gene).
GenomeRNAi26298.
NextBio48647.
PROQ9NZC4.
SOURCESearch...

Entry information

Entry nameEHF_HUMAN
AccessionPrimary (citable) accession number: Q9NZC4
Secondary accession number(s): D3DR08 expand/collapse secondary AC list , D3DR10, E9PSB2, Q9H509, Q9UKF9, Q9Y5V4, Q9Y5V5
Entry history
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: October 1, 2000
Last modified: April 16, 2014
This is version 112 of the entry and version 1 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 11

Human chromosome 11: entries, gene names and cross-references to MIM