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Protein

ETS domain-containing transcription factor ERF

Gene

ERF

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

Functioni

Potent transcriptional repressor that binds to the H1 element of the Ets2 promoter. May regulate other genes involved in cellular proliferation. Required for extraembryonic ectoderm differentiation, ectoplacental cone cavity closure, and chorioallantoic attachment (By similarity). May be important for regulating trophoblast stem cell differentiation (By similarity).By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi27 – 107ETSPROSITE-ProRule annotationAdd BLAST81

GO - Molecular functioni

GO - Biological processi

  • cell cycle Source: UniProtKB
  • cell differentiation Source: GO_Central
  • negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  • transcription, DNA-templated Source: UniProtKB-KW

Keywordsi

Molecular functionDNA-binding, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-2559585. Oncogene Induced Senescence.
SIGNORiP50548.

Names & Taxonomyi

Protein namesi
Recommended name:
ETS domain-containing transcription factor ERF
Alternative name(s):
Ets2 repressor factor
PE-2
Gene namesi
Name:ERF
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000105722.9.
HGNCiHGNC:3444. ERF.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Craniosynostosis 4 (CRS4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability.
See also OMIM:600775
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07009865R → Q in CRS4. 1 PublicationCorresponds to variant dbSNP:rs587777009Ensembl.1
Natural variantiVAR_07009986R → C in CRS4. 1 PublicationCorresponds to variant dbSNP:rs587777008Ensembl.1
Chitayat syndrome (CHYTS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant syndrome characterized by hyperphalangism, partial syndactyly, bilateral accessory phalanx resulting in shortened index fingers, hallux valgus, brachydactyly, facial anomalies, diffuse bronchomalacia, and respiratory distress at birth and in infancy.
See also OMIM:617180
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07804389Y → C in CHYTS. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi526T → A: Loss of a phosphorylation site. 1 Publication1

Keywords - Diseasei

Craniosynostosis, Disease mutation

Organism-specific databases

DisGeNETi2077.
MalaCardsiERF.
MIMi600775. phenotype.
617180. phenotype.
OpenTargetsiENSG00000105722.
Orphaneti207. Crouzon disease.
3267. Familial lambdoid synostosis.
2343. Isolated cloverleaf skull syndrome.
35093. Isolated scaphocephaly.
PharmGKBiPA27857.

Polymorphism and mutation databases

BioMutaiERF.
DMDMi50403684.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002041011 – 548ETS domain-containing transcription factor ERFAdd BLAST548

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei3PhosphothreonineCombined sources1
Modified residuei7PhosphothreonineCombined sources1
Modified residuei20PhosphoserineCombined sources1
Modified residuei24PhosphoserineCombined sources1
Modified residuei185PhosphoserineCombined sources1
Modified residuei190PhosphoserineCombined sources1
Modified residuei327PhosphoserineCombined sources1 Publication1
Modified residuei431PhosphoserineCombined sources1
Modified residuei435PhosphoserineCombined sources1
Modified residuei441PhosphothreonineCombined sources1
Modified residuei444PhosphoserineCombined sources1
Cross-linki465Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki481Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki512Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei526Phosphothreonine; by MAPK1Combined sources1 Publication1
Modified residuei531PhosphoserineCombined sources1
Modified residuei532PhosphoserineCombined sources1
Modified residuei548PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylated by multiple kinases including MAPK1/ERK2 at THR-526. Phosphorylation regulates the activity of ERF.2 Publications

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiP50548.
MaxQBiP50548.
PaxDbiP50548.
PeptideAtlasiP50548.
PRIDEiP50548.

PTM databases

iPTMnetiP50548.
PhosphoSitePlusiP50548.

Expressioni

Tissue specificityi

Highest levels in testis, ovary, pancreas, and heart.1 Publication

Gene expression databases

BgeeiENSG00000105722.
CleanExiHS_ERF.
ExpressionAtlasiP50548. baseline and differential.
GenevisibleiP50548. HS.

Organism-specific databases

HPAiHPA058532.
HPA067952.

Interactioni

Protein-protein interaction databases

BioGridi108388. 40 interactors.
IntActiP50548. 7 interactors.
MINTiMINT-240265.
STRINGi9606.ENSP00000222329.

Structurei

3D structure databases

ProteinModelPortaliP50548.
SMRiP50548.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi166 – 171Poly-Ser6
Compositional biasi290 – 293Poly-Gly4
Compositional biasi362 – 373Poly-SerAdd BLAST12
Compositional biasi418 – 423Poly-Pro6
Compositional biasi496 – 499Poly-Gly4

Sequence similaritiesi

Belongs to the ETS family.Curated

Phylogenomic databases

eggNOGiKOG3806. Eukaryota.
ENOG410Z0ZF. LUCA.
GeneTreeiENSGT00760000118907.
HOGENOMiHOG000070246.
HOVERGENiHBG005183.
InParanoidiP50548.
KOiK09434.
OMAiGASQCMP.
OrthoDBiEOG091G05C7.
PhylomeDBiP50548.
TreeFamiTF351065.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiView protein in InterPro
IPR032925. ERF.
IPR000418. Ets_dom.
IPR036388. WH-like_DNA-bd_sf.
IPR036390. WH_DNA-bd_sf.
PANTHERiPTHR11849:SF31. PTHR11849:SF31. 1 hit.
PfamiView protein in Pfam
PF00178. Ets. 1 hit.
PRINTSiPR00454. ETSDOMAIN.
SMARTiView protein in SMART
SM00413. ETS. 1 hit.
SUPFAMiSSF46785. SSF46785. 1 hit.
PROSITEiView protein in PROSITE
PS00345. ETS_DOMAIN_1. 1 hit.
PS00346. ETS_DOMAIN_2. 1 hit.
PS50061. ETS_DOMAIN_3. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P50548-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MKTPADTGFA FPDWAYKPES SPGSRQIQLW HFILELLRKE EYQGVIAWQG
60 70 80 90 100
DYGEFVIKDP DEVARLWGVR KCKPQMNYDK LSRALRYYYN KRILHKTKGK
110 120 130 140 150
RFTYKFNFNK LVLVNYPFID VGLAGGAVPQ SAPPVPSGGS HFRFPPSTPS
160 170 180 190 200
EVLSPTEDPR SPPACSSSSS SLFSAVVARR LGRGSVSDCS DGTSELEEPL
210 220 230 240 250
GEDPRARPPG PPDLGAFRGP PLARLPHDPG VFRVYPRPRG GPEPLSPFPV
260 270 280 290 300
SPLAGPGSLL PPQLSPALPM TPTHLAYTPS PTLSPMYPSG GGGPSGSGGG
310 320 330 340 350
SHFSFSPEDM KRYLQAHTQS VYNYHLSPRA FLHYPGLVVP QPQRPDKCPL
360 370 380 390 400
PPMAPETPPV PSSASSSSSS SSSPFKFKLQ PPPLGRRQRA AGEKAVAGAD
410 420 430 440 450
KSGGSAGGLA EGAGALAPPP PPPQIKVEPI SEGESEEVEV TDISDEDEED
460 470 480 490 500
GEVFKTPRAP PAPPKPEPGE APGASQCMPL KLRFKRRWSE DCRLEGGGGP
510 520 530 540
AGGFEDEGED KKVRGEGPGE AGGPLTPRRV SSDLQHATAQ LSLEHRDS
Length:548
Mass (Da):58,703
Last modified:July 19, 2004 - v2
Checksum:i01242339B8D328ED
GO
Isoform 2 (identifier: P50548-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-75: Missing.

Note: No experimental confirmation available.
Show »
Length:473
Mass (Da):49,965
Checksum:iD6811CCDE51F53C9
GO

Sequence cautioni

The sequence BAD92508 differs from that shown. The sequence differs from that shown because it seems to be derived from a pre-mRNA.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti381P → R in AAA86686 (PubMed:7588608).Curated1
Sequence conflicti398G → A in AAA86686 (PubMed:7588608).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07009865R → Q in CRS4. 1 PublicationCorresponds to variant dbSNP:rs587777009Ensembl.1
Natural variantiVAR_07009986R → C in CRS4. 1 PublicationCorresponds to variant dbSNP:rs587777008Ensembl.1
Natural variantiVAR_07804389Y → C in CHYTS. 1 Publication1
Natural variantiVAR_048947205R → H. Corresponds to variant dbSNP:rs1053655Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0554871 – 75Missing in isoform 2. 1 PublicationAdd BLAST75

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U15655 mRNA. Translation: AAA86686.1.
AK297666 mRNA. Translation: BAH12646.1.
AK314278 mRNA. Translation: BAG36938.1.
AB209271 Transcribed RNA. Translation: BAD92508.1. Sequence problems.
AC006486 Genomic DNA. Translation: AAD11987.1.
CH471126 Genomic DNA. Translation: EAW57116.1.
CH471126 Genomic DNA. Translation: EAW57118.1.
BC022231 mRNA. Translation: AAH22231.1.
CCDSiCCDS12600.1. [P50548-1]
CCDS77308.1. [P50548-2]
PIRiS59133.
RefSeqiNP_001287964.1. NM_001301035.1. [P50548-2]
NP_001295331.1. NM_001308402.1. [P50548-2]
NP_001299585.1. NM_001312656.1. [P50548-2]
NP_006485.2. NM_006494.3. [P50548-1]
XP_016881957.1. XM_017026468.1. [P50548-2]
XP_016881958.1. XM_017026469.1. [P50548-2]
UniGeneiHs.655969.

Genome annotation databases

EnsembliENST00000222329; ENSP00000222329; ENSG00000105722. [P50548-1]
ENST00000440177; ENSP00000388173; ENSG00000105722. [P50548-2]
GeneIDi2077.
KEGGihsa:2077.
UCSCiuc002ote.5. human. [P50548-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiERF_HUMAN
AccessioniPrimary (citable) accession number: P50548
Secondary accession number(s): B2RAP1
, B7Z4R0, Q59G38, Q9UPI7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: July 19, 2004
Last modified: October 25, 2017
This is version 160 of the entry and version 2 of the sequence. See 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: 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