InnateDB: Systems Biology of the Innate Immune Response

This gene encodes a member of the E protein (class I) family of helix-loop-helix transcription factors. E proteins activate transcription by binding to regulatory E-box sequences on target genes as heterodimers or homodimers, and are inhibited by heterodimerization with inhibitor of DNA-binding (class IV) helix-loop-helix proteins. E proteins play a critical role in lymphopoiesis, and the encoded protein is required for B and T lymphocyte development. Deletion of this gene or diminished activity of the encoded protein may play a role in lymphoid malignancies. This gene is also involved in several chromosomal translocations that are associated with lymphoid malignancies including pre-B-cell acute lymphoblastic leukemia (t(1;19), with PBX1), childhood leukemia (t(19;19), with TFPT) and acute leukemia (t(12;19), with ZNF384). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Sep 2011]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 19:1609290-1652605

Strand

Reverse strand

Band

p13.3

Transcripts

ENST00000262965	ENSP00000262965
ENST00000344749	ENSP00000344375
ENST00000395423	ENSP00000378813
ENST00000453954	ENSP00000396363
ENST00000585855	ENSP00000465481
ENST00000586318	ENSP00000466954
ENST00000590684	ENSP00000466565
ENST00000586164	ENSP00000467972
ENST00000586410	ENSP00000467388
ENST00000587425	ENSP00000467508
ENST00000588136	ENSP00000468487
ENST00000592395	ENSP00000465251
ENST00000590436	ENSP00000466952
ENST00000590605
ENST00000585731	ENSP00000465510
ENST00000592628	ENSP00000465549
ENST00000587235	ENSP00000466052
ENST00000593064	ENSP00000468481
ENST00000611869	ENSP00000480564
ENST00000610756

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 188 experimentally validated interaction(s) in this database.
They are also associated with 99 interaction(s) predicted by orthology.

Experimentally validated
Total	188 [view]
Protein-Protein	181 [view]
Protein-DNA	3 [view]
Protein-RNA	1 [view]
DNA-DNA	3 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	99 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0001078	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
GO:0003677	DNA binding
GO:0003682	chromatin binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0003713	transcription coactivator activity
GO:0005515	protein binding
GO:0008134	transcription factor binding
GO:0031435	mitogen-activated protein kinase kinase kinase binding
GO:0035326	enhancer binding
GO:0042803	protein homodimerization activity
GO:0043425	bHLH transcription factor binding
GO:0043565	sequence-specific DNA binding
GO:0044212	transcription regulatory region DNA binding
GO:0046982	protein heterodimerization activity
GO:0046983	protein dimerization activity
GO:0070491	repressing transcription factor binding
GO:0070644	vitamin D response element binding
GO:0070888	E-box binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001779	natural killer cell differentiation
GO:0002326	B cell lineage commitment
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0010628	positive regulation of gene expression
GO:0030098	lymphocyte differentiation
GO:0030183	B cell differentiation
GO:0030890	positive regulation of B cell proliferation
GO:0032496	response to lipopolysaccharide
GO:0033077	T cell differentiation in thymus
GO:0033152	immunoglobulin V(D)J recombination
GO:0042493	response to drug
GO:0042692	muscle cell differentiation
GO:0043966	histone H3 acetylation
GO:0043967	histone H4 acetylation
GO:0045666	positive regulation of neuron differentiation
GO:0045787	positive regulation of cell cycle
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048468	cell development
GO:0048541	Peyer's patch development
GO:0050821	protein stabilization
GO:0051091	positive regulation of sequence-specific DNA binding transcription factor activity
GO:0051149	positive regulation of muscle cell differentiation
GO:2000045	regulation of G1/S transition of mitotic cell cycle

Cellular Component

GO:0000788	nuclear nucleosome
GO:0000790	nuclear chromatin
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005667	transcription factor complex
GO:0005737	cytoplasm
GO:0043234	protein complex

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000020167

View Gene Order

ENSBTAG00000008695

Not yet available

Pathways

NETPATH

NetPath_3

Notch pathway

NetPath_5

ID pathway

NetPath_8

Wnt pathway

REACTOME

REACT_21402

CDO in myogenesis pathway

REACT_111045

Developmental Biology pathway

REACT_21303

Myogenesis pathway

KEGG

INOH

PID NCI

hes_heypathway

Notch-mediated HES/HEY network

smad2_3nuclearpathway

Regulation of nuclear SMAD2/3 signaling

p38_mk2pathway

p38 signaling mediated by MAPKAP kinases

Cross-References

SwissProt

TrEMBL

B1NYC3 Q2TB39

UniProt Splice Variant

Entrez Gene

6929

UniGene

Hs.371282 Hs.657044 Hs.741355

RefSeq

NM_001136139 NM_003200 XM_005259620 XM_006722852 XM_006722854 XM_006722855 XM_006722856 XM_006722857 XM_006722858 XM_006722859 XM_006722860 XM_006722861 XM_006722862 XM_006722863

HUGO

HGNC:11633

OMIM

147141

CCDS

CCDS12074 CCDS45899

HPRD

00918

IMGT

EMBL

AC005321 AC006274 BC110580 EU159436

GenPept

AAI10581 ACB05872

RNA Seq Atlas

6929