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Protein

ELL-associated factor 1

Gene

EAF1

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

Functioni

Acts as a transcriptional transactivator of ELL and ELL2 elongation activities.2 Publications

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Enzyme and pathway databases

SIGNORiQ96JC9.

Names & Taxonomyi

Protein namesi
Recommended name:
ELL-associated factor 1
Gene namesi
Name:EAF1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:20907. EAF1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134897202.

Polymorphism and mutation databases

BioMutaiEAF1.
DMDMi73919265.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 268268ELL-associated factor 1PRO_0000130334Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei165 – 1651PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96JC9.
MaxQBiQ96JC9.
PaxDbiQ96JC9.
PeptideAtlasiQ96JC9.
PRIDEiQ96JC9.

PTM databases

iPTMnetiQ96JC9.
PhosphoSiteiQ96JC9.

Expressioni

Tissue specificityi

Strongly expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, prostate, testis, small intestine and colon. Poorly expressed in thymus.1 Publication

Gene expression databases

BgeeiQ96JC9.
CleanExiHS_EAF1.
ExpressionAtlasiQ96JC9. baseline and differential.
GenevisibleiQ96JC9. HS.

Interactioni

Subunit structurei

Component of the super elongation complex (SEC), at least composed of EAF1, EAF2, CDK9, MLLT3/AF9, AFF (AFF1 or AFF4), the P-TEFb complex and ELL (ELL, ELL2 or ELL3). Interacts with ELL and ELL2.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
AESQ081173EBI-769261,EBI-717810
BEND7Q8N7W2-23EBI-769261,EBI-10181188
CEP76Q8TAP63EBI-769261,EBI-742887
HOMER3B2RA103EBI-769261,EBI-10175777
MED26O954025EBI-769261,EBI-394392
MIPOL1Q8TD103EBI-769261,EBI-2548751
PSME3P612894EBI-769261,EBI-355546
SDCBPO005603EBI-769261,EBI-727004
TFCP2Q128003EBI-769261,EBI-717422
ZBTB14O438293EBI-769261,EBI-10176632

Protein-protein interaction databases

BioGridi124514. 64 interactions.
IntActiQ96JC9. 28 interactions.
STRINGi9606.ENSP00000380054.

Structurei

3D structure databases

ProteinModelPortaliQ96JC9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni182 – 26281Necessary for transactivation activityAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi127 – 16842Pro-richAdd
BLAST
Compositional biasi188 – 21124Ser-richAdd
BLAST

Sequence similaritiesi

Belongs to the EAF family.Curated

Phylogenomic databases

eggNOGiKOG4795. Eukaryota.
ENOG4111KQJ. LUCA.
GeneTreeiENSGT00390000017724.
HOGENOMiHOG000070137.
HOVERGENiHBG054898.
InParanoidiQ96JC9.
KOiK15186.
OMAiSHQQPYS.
OrthoDBiEOG7ZPNNJ.
PhylomeDBiQ96JC9.
TreeFamiTF320864.

Family and domain databases

InterProiIPR027093. EAF_fam.
IPR019194. Tscrpt_elong_fac_Eaf_N.
[Graphical view]
PANTHERiPTHR15970. PTHR15970. 1 hit.
PfamiPF09816. EAF. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q96JC9-1) [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
MNGTANPLLD REEHCLRLGE SFEKRPRASF HTIRYDFKPA SIDTSCEGEL
60 70 80 90 100
QVGKGDEVTI TLPHIPGSTP PMTVFKGNKR PYQKDCVLII NHDTGEYVLE
110 120 130 140 150
KLSSSIQVKK TRAEGSSKIQ ARMEQQPTRP PQTSQPPPPP PPMPFRAPTK
160 170 180 190 200
PPVGPKTSPL KDNPSPEPQL DDIKRELRAE VDIIEQMSSS SGSSSSDSES
210 220 230 240 250
SSGSDDDSSS SGGEDNGPAS PPQPSHQQPY NSRPAVANGT SRPQGSNQLM
260
NTLRNDLQLS ESGSDSDD
Length:268
Mass (Da):29,042
Last modified:December 1, 2001 - v1
Checksum:i0D78B586AABB0FA4
GO
Isoform 2 (identifier: Q96JC9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: MNGTANPLLDR → MKSQLHCHISL
     12-112: Missing.

Note: No experimental confirmation available.
Show »
Length:167
Mass (Da):17,723
Checksum:i997058BFE04D90E1
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti97 – 971Y → F in AAH41329 (PubMed:15489334).Curated
Sequence conflicti252 – 2521T → A in AAH41329 (PubMed:15489334).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1111MNGTANPLLDR → MKSQLHCHISL in isoform 2. 1 PublicationVSP_056193Add
BLAST
Alternative sequencei12 – 112101Missing in isoform 2. 1 PublicationVSP_056194Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF272973 mRNA. Translation: AAK58687.1.
AK304697 mRNA. Translation: BAG65467.1.
AC027125 Genomic DNA. No translation available.
BC041329 mRNA. Translation: AAH41329.1.
CCDSiCCDS2626.1. [Q96JC9-1]
RefSeqiNP_149074.3. NM_033083.6. [Q96JC9-1]
XP_005265575.1. XM_005265518.1. [Q96JC9-2]
XP_011532467.1. XM_011534165.1. [Q96JC9-2]
XP_011532468.1. XM_011534166.1. [Q96JC9-2]
UniGeneiHs.716733.

Genome annotation databases

EnsembliENST00000396842; ENSP00000380054; ENSG00000144597. [Q96JC9-1]
GeneIDi85403.
KEGGihsa:85403.
UCSCiuc003bzu.4. human. [Q96JC9-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF272973 mRNA. Translation: AAK58687.1.
AK304697 mRNA. Translation: BAG65467.1.
AC027125 Genomic DNA. No translation available.
BC041329 mRNA. Translation: AAH41329.1.
CCDSiCCDS2626.1. [Q96JC9-1]
RefSeqiNP_149074.3. NM_033083.6. [Q96JC9-1]
XP_005265575.1. XM_005265518.1. [Q96JC9-2]
XP_011532467.1. XM_011534165.1. [Q96JC9-2]
XP_011532468.1. XM_011534166.1. [Q96JC9-2]
UniGeneiHs.716733.

3D structure databases

ProteinModelPortaliQ96JC9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124514. 64 interactions.
IntActiQ96JC9. 28 interactions.
STRINGi9606.ENSP00000380054.

PTM databases

iPTMnetiQ96JC9.
PhosphoSiteiQ96JC9.

Polymorphism and mutation databases

BioMutaiEAF1.
DMDMi73919265.

Proteomic databases

EPDiQ96JC9.
MaxQBiQ96JC9.
PaxDbiQ96JC9.
PeptideAtlasiQ96JC9.
PRIDEiQ96JC9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000396842; ENSP00000380054; ENSG00000144597. [Q96JC9-1]
GeneIDi85403.
KEGGihsa:85403.
UCSCiuc003bzu.4. human. [Q96JC9-1]

Organism-specific databases

CTDi85403.
GeneCardsiEAF1.
HGNCiHGNC:20907. EAF1.
MIMi608315. gene.
neXtProtiNX_Q96JC9.
PharmGKBiPA134897202.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4795. Eukaryota.
ENOG4111KQJ. LUCA.
GeneTreeiENSGT00390000017724.
HOGENOMiHOG000070137.
HOVERGENiHBG054898.
InParanoidiQ96JC9.
KOiK15186.
OMAiSHQQPYS.
OrthoDBiEOG7ZPNNJ.
PhylomeDBiQ96JC9.
TreeFamiTF320864.

Enzyme and pathway databases

SIGNORiQ96JC9.

Miscellaneous databases

ChiTaRSiEAF1. human.
GeneWikiiEAF1.
GenomeRNAii85403.
PROiQ96JC9.
SOURCEiSearch...

Gene expression databases

BgeeiQ96JC9.
CleanExiHS_EAF1.
ExpressionAtlasiQ96JC9. baseline and differential.
GenevisibleiQ96JC9. HS.

Family and domain databases

InterProiIPR027093. EAF_fam.
IPR019194. Tscrpt_elong_fac_Eaf_N.
[Graphical view]
PANTHERiPTHR15970. PTHR15970. 1 hit.
PfamiPF09816. EAF. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "EAF1, a novel ELL-associated factor that is delocalized by expression of the MLL-ELL fusion protein."
    Simone F., Polak P.E., Kaberlein J.J., Luo R.T., Levitan D.A., Thirman M.J.
    Blood 98:201-209(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, INTERACTION WITH ELL AND ELL2, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
    Tissue: Bone marrow.
  2. "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.
    , 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 2).
    Tissue: Uterus.
  3. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
    , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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: Brain.
  5. "ELL and EAF1 are Cajal body components that are disrupted in MLL-ELL leukemia."
    Polak P.E., Simone F., Kaberlein J.J., Luo R.T., Thirman M.J.
    Mol. Biol. Cell 14:1517-1528(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
  6. "ELL-associated factors 1 and 2 are positive regulators of RNA polymerase II elongation factor ELL."
    Kong S.E., Banks C.A., Shilatifard A., Conaway J.W., Conaway R.C.
    Proc. Natl. Acad. Sci. U.S.A. 102:10094-10098(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  7. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-165, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-165, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-165, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  10. Cited for: IDENTIFICATION IN THE SEC COMPLEX.
  11. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-165, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. "The super elongation complex (SEC) family in transcriptional control."
    Luo Z., Lin C., Shilatifard A.
    Nat. Rev. Mol. Cell Biol. 13:543-547(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW ON THE SUPER ELONGATION COMPLEX.
  13. "Toward a comprehensive characterization of a human cancer cell phosphoproteome."
    Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., Mohammed S.
    J. Proteome Res. 12:260-271(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-165, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma and Erythroleukemia.
  14. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.

Entry informationi

Entry nameiEAF1_HUMAN
AccessioniPrimary (citable) accession number: Q96JC9
Secondary accession number(s): B4E3F5, Q8IW10
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: December 1, 2001
Last modified: July 6, 2016
This is version 109 of the entry and version 1 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 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.