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HAND1

GENERAL INFORMATION

Gene name

 HAND1

Gene description

 Heart and neural crest derivatives expressed 1

Protein class

 Predicted intracellular proteins
Transcription factors

Predicted localization

 Intracellular

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Group enriched (colorectal cancer, testis cancer)
HPA (cell line):Cell line enriched (SH-SY5Y)
HPA (normal tissue):Tissue enhanced (smooth muscle)

Protein evidence

 Evidence at transcript level

Protein expression
normal tissue

 Nuclear membrane expression in most tissues including CNS

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data. Presumed off target binding observed and disregarded.

Reliability score

 Approved based on 1 antibody.
HPA040925
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PROGNOSTIC SUMMARY
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Group enriched (colorectal cancer, testis cancer)

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA040925

GENE INFORMATION

Gene name

 HAND1 (HGNC Symbol)

Synonyms

 bHLHa27, eHand, Hxt, Thing1

Description

 Heart and neural crest derivatives expressed 1 (HGNC Symbol)

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]

Chromosome

 5

Cytoband

 q33.2

Chromosome location (bp)

 154474972 - 154478264

Protein evidence

 Evidence at transcript level (all genes)

Ensembl

 ENSG00000113196 (version 83.38)

Entrez gene

 9421

UniProt

 O96004 (UniProt - Evidence at transcript level)

neXtProt

 NX_O96004

Antibodypedia

 HAND1 antibodies

PROTEIN BROWSER
HAND1-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
HAND1-001
ENSP00000231121
ENST00000231121
O96004 [Direct mapping]
Heart- and neural crest derivatives-expressed protein 1
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Predicted intracellular proteins
Transcription factors
   Basic domains
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GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0001078 [transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding]
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:0003677 [DNA binding]
GO:0003713 [transcription coactivator activity]
GO:0003714 [transcription corepressor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0007507 [heart development]
GO:0008134 [transcription factor binding]
GO:0019899 [enzyme binding]
GO:0030154 [cell differentiation]
GO:0035050 [embryonic heart tube development]
GO:0042475 [odontogenesis of dentin-containing tooth]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0043425 [bHLH transcription factor binding]
GO:0043433 [negative regulation of sequence-specific DNA binding transcription factor activity]
GO:0043565 [sequence-specific DNA binding]
GO:0044212 [transcription regulatory region DNA binding]
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:0046982 [protein heterodimerization activity]
GO:0046983 [protein dimerization activity]
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]
GO:0090575 [RNA polymerase II transcription factor complex]
GO:1903026 [negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding]
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 215 aa
23.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.