InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: HAND1

Summary

InnateDB Gene

IDBG-54934.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HAND1

Gene Name

heart and neural crest derivatives expressed 1

Synonyms

bHLHa27; eHand; Hxt; Thing1

Species

Homo sapiens

Ensembl Gene

ENSG00000113196

Encoded Proteins

IDBP-54936

heart and neural crest derivatives expressed 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 5:154474972-154478264

Strand

Reverse strand

Band

q33.2

Transcripts

ENST00000231121

ENSP00000231121

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	10 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003713	transcription coactivator activity
GO:0005515	protein binding
GO:0008134	transcription factor binding
GO:0019899	enzyme binding
GO:0042802	identical protein 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

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001525	angiogenesis
GO:0001701	in utero embryonic development
GO:0001707	mesoderm formation
GO:0001824	blastocyst development
GO:0001829	trophectodermal cell differentiation
GO:0001947	heart looping
GO:0003144	embryonic heart tube formation
GO:0003218	cardiac left ventricle formation
GO:0003219	cardiac right ventricle formation
GO:0006366	transcription from RNA polymerase II promoter
GO:0007507	heart development
GO:0030154	cell differentiation
GO:0035050	embryonic heart tube development
GO:0042475	odontogenesis of dentin-containing tooth
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity
GO:0045892	negative regulation of transcription, DNA-templated
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0055010	ventricular cardiac muscle tissue morphogenesis
GO:0060411	cardiac septum morphogenesis
GO:0060485	mesenchyme development
GO:0060536	cartilage morphogenesis
GO:0060707	trophoblast giant cell differentiation
GO:0061371	determination of heart left/right asymmetry

Cellular Component

GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005730	nucleolus
GO:0005737	cytoplasm

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000037335

View Gene Order

ENSBTAG00000002335

Not yet available

Pathways

NETPATH

REACTOME

KEGG

INOH

PID NCI

Cross-References

SwissProt

O96004

TrEMBL

UniProt Splice Variant

Entrez Gene

9421

UniGene

Hs.152531

RefSeq

NM_004821 XM_005268531

HUGO

HGNC:4807

OMIM

602406

CCDS

CCDS4327

HPRD

IMGT

EMBL

AF061756 AF063012 BC021190

GenPept

AAD19280 AAD19283 AAH21190

RNA Seq Atlas

9421