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EAF1 Gene

protein-coding GIFtS: 51

GC03P015443

ELL associated factor 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Descriptions
ELL (eleven nineteen lysine-rich leukemia gene)-associated factor 1 ^²
ELL associated factor 1 ^²

External Ids
HGNC: 20907¹
Entrez Gene: 85403²
UniProtKB: Q96JC9³
Ensembl: ENSG00000144597⁷

Search outside databases for aliases for EAF1 gene

Previous GC identifers: GC03P015398 GC03P015444

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: EAF1_HUMAN, Q96JC9

Function: Acts as a transcriptional transactivator of ELL and ELL2 elongation activities

Gene Wiki entry for EAF1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the EAF1 gene

Entrez Gene cytogenetic band: 3p24.3 Ensembl cytogenetic band: 3p24.3 HGNC cytogenetic band: 3p25.1

EAF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03P015443: (about GC identifiers)

Start:	15,444,068 bp from pter
End:	15,459,124 bp from pter
Size:	15,057 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000003.10 NT_022517.17

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: EAF1_HUMAN, Q96JC9 (See protein sequence)

Recommended Name: ELL-associated factor 1

Size: 268 amino acids; 29042 Da

Subunit: Interacts with ELL and ELL2

Subcellular location: Nucleus speckle. Nucleus, Cajal body. Note=Colocalizes with ELL to nuclear

speckles. Also localized to Cajal (coiled) bodies

Secondary accessions: Q8IW10

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_149074.3

ENSEMBL proteins:

ENSP00000380054

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (H00085403-B01)
	Human Recombinant Proteins from Abnova (EAF1)

OriGene Purified Recombinant Human Protein: EAF1

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0016607	nuclear speck	IEA	--

About this table

Antibodies for EAF1:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for EAF1
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (H00085403-B01), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (EAF1)
	Novus Biologicals Antibodies for EAF1

Assays for EAF1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry Q96JC9

ProtoNet protein and cluster: Q96JC9

UniProtKB/Swiss-Prot: EAF1_HUMAN, Q96JC9

Similarity: Belongs to the EAF family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (EAF1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_033083

Applied Biosystems Silencer® siRNAs for EAF1

Sigma-Aldrich siRNA for EAF1

Sigma-Aldrich shRNA for EAF1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for EAF1
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_033083
Myc/DDK tagged cDNA clone in CMV expression vector: NM_033083
untagged cDNA clone in CMV expression vector: NM_033083

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_033083

UniProtKB/Swiss-Prot: EAF1_HUMAN, Q96JC9

Function: Acts as a transcriptional transactivator of ELL and ELL2 elongation activities

1 Gene Ontology (GO) molecular function term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	17395368

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Gene Network Central^TM Interacting Genes and Proteins Network for EAF1

1 Interacting protein for EAF1 (Q96JC9¹) via UniProtKB, MINT, and/or STRING
Interactant Interaction Details
GeneCard External ID(s)
TFPT P0C1Z6¹ EBI-769261, EBI-1245626
About this table
2 Gene Ontology (GO) biological process terms (links to tree view):
GO ID Qualified GO term Evidence PubMed IDs
GO:0006350 transcription IEA --
GO:0006355 regulation of transcription, DNA-dependent IEA --
About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for EAF1

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (EAF1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_033083

Sigma-Aldrich siRNA for EAF1

Sigma-Aldrich shRNA for EAF1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_033083

REFSEQ mRNAs for EAF1 gene:

NM_033083.6

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_033083

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_033083
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_033083
                                 untagged cDNA clone in CMV expression vector: NM_033083

Additional cDNA sequence:

AF272973.1 AK023217.1 AK304697.1 AK312330.1 BC029294.1 BC035167.2 BC041329.2

9 DOTS entries:

DT.97842454 DT.97843612 DT.120877274 DT.120877221 DT.120877242 DT.40312077 DT.100793972 DT.101977323

DT.120877226

24/110 AceView cDNA sequences (see all 110 ):

BX956574 AI700767 CD369076 AU131898 BE550916 AW772273 CK822971 AW236397

CK822972 BX346176 AW770427 BM836669 AA985662 BQ086314 BX504281 BQ064584

BX509153 AI935241 BQ100989 AL698790 BQ648176 AA808052 NM_033083 AA401940

highest scoring ESTs for EAF1:

AA664156 AA694419 AA701495 AF272973 AI026633 AK023217 AU125789 AU131898 AW236397 AW362930

Unigene Cluster for EAF1:

ELL associated factor 1

Hs.716733 [show with all ESTs]

Unigene Representative Sequence: NM_033083

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for EAF1

ExUns:	1a	·	1b	^	2	^	3	^	4a	·	4b	^	5	^	6
SP1:
SP2:							-

About this scheme

ECgene alternative splicing isoforms for EAF1

1 Ensembl transcript including schematic representation:

ENST00000396842

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

EAF1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for EAF1

¹ / ² / ³

4 probe-sets matching EAF1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
53670_at²^{, 3}	U95-C	1	1.00	1.00	0.37	1.16	AA664156	0.80	1.00	0.91	1
75439_at²^{, 3}	U95-E	1	0.56	1.00	0.77	0.85	AI183562	0.80	0.80	0.80	1
226952_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AU149385	0.60	1.00	0.82	1
226952_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks EAF1 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TTTACATTTA

SOURCE GeneReport for Unigene cluster: Hs.716733
UniProtKB/Swiss-Prot: EAF1_HUMAN, Q96JC9
Tissue specificity: Strongly expressed in heart, brain, placenta, lung, liver, skeletal muscle,
kidney, pancreas, spleen, prostate, testis, small intestine and colon. Poorly expressed in thymus

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for EAF1 gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	EAF1¹	--	ELL associated factor 1	93.41(n) 98.88(a)	485656 XM_542776.2 XP_542776.2
chimpanzee (Pan troglodytes)	EAF1¹	--	ELL associated factor 1	99.75(n) 100(a)	743603 XM_001159232.1 XP_001159232.1
cow (Bos taurus)	EAF1¹	--	ELL associated factor 1	86.5(n) 95.14(a)	507577 XM_584216.3 XP_584216.2
rat (Rattus norvegicus)	Eaf1¹	--	ELL associated factor 1	88.68(n) 98.13(a)	306261 XM_224618.4 XP_224618.4
mouse (Mus musculus)	Eaf1^{1, 5}	14⁵	ELL associated factor 1^{1, 5}	89.05(n)¹ 98.13(a)¹	74427¹ NM_028932.3¹ NP_083208.1¹ AA198542⁵ AI666536⁵ (see all 12)

About this table Species with no ortholog for EAF1

ENSEMBL Gene Tree for EAF1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for EAF1 gene

EAF2²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/80 NCBI SNPs in EAF1 are shown (see all 80 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 46)

AB	SNP ID	Valid	Chr 3 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs972685^1,2	A,C,F,H,O	15459273(-)	`AAAAGC/TTGAGG`	1	--	ng3¹		10		EU EA WA NA	2192
	rs1048608^1,2	A,C,F,H,O	15458834(+)	`TTTCTA/GTTTGG`	1	--	ut3¹		9		MN EU EA WA	1022
	rs11914287^1,2	A,C,F,H	15457836(+)	`AGATGC/GCCTCC`	1	--	ut3¹		4		EU EA WA	412
	rs6778562^1,2	A,C,F,H	15457779(+)	`GTAAGG/CAATCT`	1	--	ut3¹		4		EU EA WA	412
	rs9846247^1,2	A,C,F,H	15457710(+)	`CTTCAA/GTTTTG`	1	--	ut3¹ ese³		7		NA EU EA WA	546
	rs9856041^1,2	C,F,H	15459223(+)	`ACTAAA/GTGGAT`	1	--	ng3¹		4		EU EA WA	410
	rs17041129^1,2	C,F,H	15455730(+)	`TTTGGC/TGTGGA`	1	--	ut3¹		12		NA EU EA WA	1052
--	rs3210240^1,2	F	15458159(+)	`CCTGGG/CCAACA`	1	--	ut3¹		1		MN	184
	rs11914325^1,2	C	15457910(+)	`CCATAC/TCCCAC`	1	--	ut3¹		0	--	--	--	--
--	rs3210239^1,2	F	15458155(+)	`CCAGCC/TTGGGC`	1	--	ut3¹		1		MN	184

About this table

HapMap Linkage Disequilibrium images for EAF1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 608315

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/12 PubMed articles for EAF1 gene (see all 12 ):

EAF1, a novel ELL-associated factor that is delocalized by expression of the MLL-ELL fusion protein. (PubMed id 11418481)^{2, 3, 4} Simone F....Thirman M.J. (2001)
ELL-associated factors 1 and 2 are positive regulators of RNA polymerase II elongation factor ELL. (PubMed id 16006523)^{1, 3, 4} Kong S.E.... Conaway R.C. (2005)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{3, 4} Olsen J.V....Mann M. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
ELL and EAF1 are Cajal body components that are disrupted in MLL-ELL leukemia. (PubMed id 12686606)^{3, 4} Polak P.E.... Thirman M.J. (2003)
FB1, an E2A fusion partner in childhood leukemia, interacts with U19/EAF2 and inhibits its transcriptional activity. (PubMed id 17395368)^{1, 3} Jiang F....Wang Z. (2007)
Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976)⁴ Daub H.... Mann M. (2008)
A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)⁴ Dephoure N.... Gygi S.P. (2008)
ELL binding regulates U19/Eaf2 intracellular localization, stability, and transactivation. (PubMed id 16114057)³ Xiao W....Wang Z. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)³ Ota T....Sugano S. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 85403	HGNC: 20907	AceView: EAF1	Ensembl:ENSG00000144597	euGenes: HUgn85403
ECgene: EAF1	H-InvDB: EAF1

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Licensable Technologies for EAF1
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for EAF1:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for EAF1-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for EAF1		Antibodies for EAF1
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for EAF1		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

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	Tagged/untagged cDNA clones
	Validated SYBR primer pairs
	Purified proteins from HEK293T cells
	Western blot validated antibodies
	shRNA in GFP-retroviral vector

Search Tocris compounds for EAF1

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Antibodies for EAF1

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EAF1 Gene

protein-coding GIFtS: 51

Aliases &
Descriptions
for EAF1

Summaries
for EAF1

Genomic Location
for EAF1

Proteins
for EAF1

Protein Domains/
Families
for EAF1

Gene Function
for EAF1

Pathways & Interactions
for EAF1

Drugs & Compounds
for EAF1

Transcripts
for EAF1

Expression
for EAF1

Orthologs
for EAF1

Paralogs
for EAF1

SNPs/Variants
for EAF1

Disorders & Mutations
for EAF1

Medical News
for EAF1

Publications
for EAF1

Search for EAF1

Genome Databases showing EAF1

Other Databases showing EAF1

Specialized Databases showing EAF1

Licensable Technologies
for EAF1

Services
for EAF1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

EAF1 Gene

protein-coding GIFtS: 51

Aliases & Descriptionsfor EAF1

Summariesfor EAF1

Genomic Locationfor EAF1

Proteinsfor EAF1

Protein Domains/Familiesfor EAF1

Gene Functionfor EAF1

Pathways & Interactionsfor EAF1

Drugs & Compoundsfor EAF1

Transcriptsfor EAF1

Expression for EAF1

Orthologsfor EAF1

Paralogsfor EAF1

SNPs/Variantsfor EAF1

Disorders & Mutationsfor EAF1

Medical Newsfor EAF1

Publicationsfor EAF1

Search for EAF1

Genome Databases showing EAF1

Other Databases showing EAF1

Specialized Databases showing EAF1

Licensable Technologiesfor EAF1

Servicesfor EAF1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for EAF1

Summaries
for EAF1

Genomic Location
for EAF1

Proteins
for EAF1

Protein Domains/
Families
for EAF1

Gene Function
for EAF1

Pathways & Interactions
for EAF1

Drugs & Compounds
for EAF1

Transcripts
for EAF1

Expression
for EAF1

Orthologs
for EAF1

Paralogs
for EAF1

SNPs/Variants
for EAF1

Disorders & Mutations
for EAF1

Medical News
for EAF1

Publications
for EAF1

Licensable Technologies
for EAF1

Services
for EAF1