Hand1

Functionⁱ

Transcription factor that plays an essential role in both trophoblast-giant cells differentiation and in cardiac morphogenesis. In the adult, could be required for ongoing expression of cardiac-specific genes. Binds the DNA sequence 5'-NRTCTG-3' (non-canonical E-box).1 Publication

GO - Molecular functionⁱ

bHLH transcription factor binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- 15509787
DNA binding
Source: MGI
Inferred from direct assayⁱ
- 15509787
enzyme binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 17891141
identical protein binding
Source: IntAct
Inferred from physical interactionⁱ
- 10924525
protein heterodimerization activity
Source: MGI
Inferred from physical interactionⁱ
- 15509787
protein homodimerization activity
Source: MGI
Inferred from direct assayⁱ
- 23911935
proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific Source: MGI
RNA polymerase II proximal promoter sequence-specific DNA binding Source: MGI
sequence-specific DNA binding
Source: MGI
Inferred from genetic interactionⁱ
- 12070084
transcription coactivator activity
Source: BHF-UCL
Inferred from direct assayⁱ
- 15509787
transcription factor binding
Source: MGI
Inferred from physical interactionⁱ
- 19144722
- 7814632

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

angiogenesis
Source: MGI
Inferred from mutant phenotypeⁱ
- 15073150
cardiac left ventricle formation Source: MGI
cardiac right ventricle formation Source: MGI
cardiac septum morphogenesis Source: MGI
cartilage morphogenesis
Source: MGI
Inferred from genetic interactionⁱ
- 17764670
cell differentiation
Source: MGI
Inferred from genetic interactionⁱ
- 16759287
cell fate determination
Source: UniProtKB
Non-traceable author statementⁱ
- 17891141
determination of heart left/right asymmetry
Source: MGI
Inferred from mutant phenotypeⁱ
- 11076684
embryonic heart tube development
Source: MGI
Inferred from mutant phenotypeⁱ
- 9500551
embryonic heart tube formation
Source: MGI
Inferred from mutant phenotypeⁱ
- 11076684
heart development
Source: MGI
Inferred from mutant phenotypeⁱ
- 15576406
- 9500550
heart looping
Source: MGI
Inferred from mutant phenotypeⁱ
- 9500551
heart morphogenesis
Source: BHF-UCL
Traceable author statementⁱ
- 15509787
in utero embryonic development
Source: MGI
Inferred from mutant phenotypeⁱ
- 9500551
mesenchyme development
Source: MGI
Inferred from genetic interactionⁱ
- 17764670
mesoderm formation
Source: MGI
Inferred from mutant phenotypeⁱ
- 9500550
negative regulation of DNA-binding transcription factor activity
Source: MGI
Inferred from direct assayⁱ
- 19144722
negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding Source: MGI
negative regulation of transcription, DNA-templated Source: MGI
negative regulation of transcription by RNA polymerase II
Source: MGI
Inferred from genetic interactionⁱ
- 16759287
odontogenesis of dentin-containing tooth
Source: MGI
Inferred from genetic interactionⁱ
- 17764670
positive regulation of transcription, DNA-templated
Source: BHF-UCL
Inferred from direct assayⁱ
- 15509787
positive regulation of transcription by RNA polymerase II
Source: MGI
Inferred from direct assayⁱ
- 15509787
- 16759287
transcription by RNA polymerase II Source: MGI
trophectodermal cell differentiation Source: Ensembl
trophoblast giant cell differentiation
Source: MGI
Inferred from direct assayⁱ
- 23911935
ventricular cardiac muscle tissue morphogenesis
Source: MGI
Inferred from mutant phenotypeⁱ
- 9500551

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Activator, Developmental protein, DNA-binding
Biological process	Transcription, Transcription regulation

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Heart- and neural crest derivatives-expressed protein 1 Alternative name(s): Extraembryonic tissues, heart, autonomic nervous system and neural crest derivatives-expressed protein 1 Short name: eHAND Helix-loop-helix transcription factor expressed in extraembryonic mesoderm and trophoblast Thing-1 Short name: Th1
Gene namesⁱ	Name:Hand1 Synonyms:Ehand, Hxt, Thing1
Organismⁱ	Mus musculus (Mouse)
Taxonomic identifierⁱ	10090 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Glires › Rodentia › Myomorpha › Muroidea › Muridae › Murinae › Mus › Mus
Proteomesⁱ	UP000000589 Componentⁱ: Chromosome 11

Organism-specific databases

MGIⁱ	MGI:103577 Hand1

Keywords - Cellular componentⁱ

Nucleus

Pathology & Biotechⁱ

Mutagenesis

Feature key	Position(s)	DescriptionActions	Length
Mutagenesisⁱ	107	T → A: Remains exclusively in the nucleolus; when associated with A-109. 1 Publication	1
Mutagenesisⁱ	107	T → D: Adopts a nucleus-wide distribution; when associated with D-109. 1 Publication	1
Mutagenesisⁱ	109	S → A: Remains exclusively in the nucleolus; when associated with A-107. 1 Publication	1
Mutagenesisⁱ	109	S → D: Adopts a nucleus-wide distribution; when associated with D-107. 1 Publication	1

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000127185	1 – 216	Heart- and neural crest derivatives-expressed protein 1Add BLAST		216

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Modified residueⁱ	107	Phosphothreonine; by PLK41 Publication		1
Modified residueⁱ	109	Phosphoserine; by PLK41 Publication		1

Post-translational modificationⁱ

Phosphorylation by PLK4 disrupts the interaction with MDFIC and leads to translocation into the nucleoplasm, allowing dimerization and transcription factor activity.1 Publication

Keywords - PTMⁱ

Phosphoprotein

Proteomic databases

PaxDbⁱ	Q64279
PRIDEⁱ	Q64279

PTM databases

iPTMnetⁱ	Q64279
PhosphoSitePlusⁱ	Q64279

Expressionⁱ

Tissue specificityⁱ

Smooth muscle cells of the gut and adrenal tissue.

Developmental stageⁱ

Present as a maternal transcript in the egg as well as during cleavage development before blastocyst formation. At 7.5 dpc, strongly expressed in all trophoblast cells. Expression seen in the ectoplacental cone and extraembryonic mesodermal components of the amnion, allantois and visceral yolk sac. This high extraembryonic expression persists in the embryonic component of the placenta throughout development. In the embryo, expressed at 7.75 dpc in the lateral mesoderm along the entire length of the embryo as well as throughout the precardiogenic mesoderm. At 8.0 dpc, in the developing heart, expression becomes restricted to the rostral and caudal regions of the straight heart tube, which are fated to form the conotruncus and left ventricle, respectively. Symmetric expression is observed along the left-right axis in the caudal heart tube and lateral mesoderm. As cardiac looping occurs, the interrupted anterior-posterior patterning is maintained with expression in the future left, but not right ventricle. Expressed in the myocardium, but not in the endocardium, and specifically on the greater curvature of the looping heart which is opposed to the pericardium. After day 10.5 dpc, the high cardiac expression level declines abruptly. By 13.5 dpc, expression in the heart is restricted to the regions of valve formation. Besides the heart, expression becomes detectable in the gut at 9.0 dpc. At 10.0 dpc, expressed also in the lateral mesoderm and in the neural crest-derived branchial arches. At 10.5 dpc prominent expression in the gut, pharyngeal arches and in sympathetic ganglion primordia. At that stage, a low level of transient expression is seen in the distal posterior region of the limb bud. By 13.5 dpc, the neural crest derivatives, especially the autonomic nervous system and adrenal medulla. Are the prominent sites of expression, with expression in the other sites still detectable.2 Publications

Gene expression databases

Bgeeⁱ	ENSMUSG00000037335 Expressed in 165 organ(s), highest expression level in placenta
ExpressionAtlasⁱ	Q64279 baseline and differential
Genevisibleⁱ	Q64279 MM

Interactionⁱ

Subunit structureⁱ

Efficient DNA binding requires dimerization with another bHLH protein. Forms homodimers and heterodimers with TCF3 gene products E12 and E47, HAND2 and HEY1, HEY2 and HEYL (hairy-related transcription factors). Interacts with MDFIC.2 Publications

Binary interactionsⁱ

With	Entry	#Exp.	IntAct
itself		2	EBI-81361,EBI-81361
Hand2	Q61039	3	EBI-81361,EBI-81388
Tcf3	P15806	2	EBI-81361,EBI-81370

GO - Molecular functionⁱ

bHLH transcription factor binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- 15509787
enzyme binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 17891141
identical protein binding
Source: IntAct
Inferred from physical interactionⁱ
- 10924525
protein heterodimerization activity
Source: MGI
Inferred from physical interactionⁱ
- 15509787
protein homodimerization activity
Source: MGI
Inferred from direct assayⁱ
- 23911935
transcription factor binding
Source: MGI
Inferred from physical interactionⁱ
- 19144722
- 7814632

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	200204, 7 interactors
Database of interacting proteins More...DIPⁱ	DIP-455N
IntActⁱ	Q64279, 6 interactors
STRINGⁱ	10090.ENSMUSP00000046999

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q64279
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	94 – 146	bHLHPROSITE-ProRule annotationAdd BLAST		53

Compositional bias

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Compositional biasⁱ	9 – 17	Poly-His		9
Compositional biasⁱ	66 – 71	Poly-Ala		6

Phylogenomic databases

eggNOGⁱ	KOG4029 Eukaryota ENOG411227D LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00760000119097
HOGENOMⁱ	HOG000232082
HOVERGENⁱ	HBG051880
InParanoidⁱ	Q64279
KEGG Orthology (KO) More...KOⁱ	K09071
OMAⁱ	RPYFQSW
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0MSL
PhylomeDBⁱ	Q64279
TreeFamⁱ	TF315153

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00083 HLH, 1 hit
Gene3Dⁱ	4.10.280.10, 1 hit
InterProⁱ	View protein in InterPro IPR011598 bHLH_dom IPR036638 HLH_DNA-bd_sf
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00010 HLH, 1 hit
SMARTⁱ	View protein in SMART SM00353 HLH, 1 hit
SUPFAMⁱ	SSF47459 SSF47459, 1 hit
PROSITEⁱ	View protein in PROSITE PS50888 BHLH, 1 hit

Sequence (1+)ⁱ

Sequence statusⁱ: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show all Align All

Q64279-1 [UniParc]FASTA Add to basket

« Hide

        10         20         30         40         50
MNLVGSYAHH HHHHHSHPPH PMLHEPFLFG PASRCHQERP YFQSWLLSPA 
        60         70         80         90        100
DAAPDFPAGG PPPTTAVAAA AYGPDARPSQ SPGRLEALGS RLPKRKGSGP 
       110        120        130        140        150
KKERRRTESI NSAFAELREC IPNVPADTKL SKIKTLRLAT SYIAYLMDVL 
       160        170        180        190        200
AKDAQAGDPE AFKAELKKTD GGRESKRKRE LPQQPESFPP ASGPGEKRIK 
       210 
GRTGWPQQVW ALELNQ

Length:216

Mass (Da):23,806

Last modified:November 1, 1996 - v1

Checksum:ⁱ307B14BB835833F1

GO

Computationally mapped potential isoform sequencesⁱ

There is 1 potential isoform mapped to this entry.BLAST Align Show all Add to basket

	Entry	Entry name		Protein names	Gene names	Length	Annotation

	Q5SQG0	Q5SQG0_MOUSE		Heart- and neural crest derivatives... Heart- and neural crest derivatives-expressed protein 1	Hand1	31	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	6	S → R in AAA86273 (PubMed:7671815).Curated	1
Sequence conflictⁱ	19	P → A in AAA86273 (PubMed:7671815).Curated	1
Sequence conflictⁱ	131	S → P in AAA86273 (PubMed:7671815).Curated	1
Sequence conflictⁱ	149	V → A in AAA86273 (PubMed:7671815).Curated	1
Sequence conflictⁱ	164	A → V in AAA86273 (PubMed:7671815).Curated	1
Sequence conflictⁱ	187	S → G in AAA86273 (PubMed:7671815).Curated	1
Sequence conflictⁱ	208	Q → K in AAA86273 (PubMed:7671815).Curated	1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	U21226 mRNA Translation: AAA86887.1 S79216 mRNA Translation: AAB35104.1 U43714 mRNA Translation: AAA86273.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS24721.1
NCBI Reference Sequences More...RefSeqⁱ	NP_032239.1, NM_008213.2
UniGeneⁱ	Mm.4746

Genome annotation databases

Ensemblⁱ	ENSMUST00000036917; ENSMUSP00000046999; ENSMUSG00000037335 ENSMUST00000160392; ENSMUSP00000124951; ENSMUSG00000037335
GeneIDⁱ	15110
KEGGⁱ	mmu:15110
UCSC genome browser More...UCSCⁱ	uc007jaf.1 mouse

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q64279	Heart and neural crest derivatives expressed transcript 1		MOUSE		216	UniRef100_Q64279
Heart- and neural crest derivatives-expressed protein 1 (Fragment)		MOUSE		31

Protein	Similar proteins		Species	Score	Length	Source
Q64279	Heart- and neural crest derivatives-expressed protein 1		BOVIN		218	UniRef90_Q64279
Heart- and neural crest derivatives-expressed protein 1		RAT		216
Heart- and neural crest derivatives-expressed protein 1		HUMAN		215
Heart- and neural crest derivatives-expressed protein 1		RABIT		215
Heart- and neural crest derivatives-expressed protein 1		SHEEP		204
+122

Protein	Similar proteins		Species	Score	Length	Source
Q64279	Heart- and neural crest derivatives-expressed protein 1		BOVIN		218	UniRef50_Q64279
Heart- and neural crest derivatives-expressed protein 1		RAT		216
Heart- and neural crest derivatives-expressed protein 1		RABIT		215
Heart- and neural crest derivatives-expressed protein 1		HUMAN		215
Heart- and neural crest derivatives-expressed protein 1		SHEEP		204
+199

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	U21226 mRNA Translation: AAA86887.1 S79216 mRNA Translation: AAB35104.1 U43714 mRNA Translation: AAA86273.1
CCDSⁱ	CCDS24721.1
RefSeqⁱ	NP_032239.1, NM_008213.2
UniGeneⁱ	Mm.4746

3D structure databases

ProteinModelPortalⁱ	Q64279
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	200204, 7 interactors
DIPⁱ	DIP-455N
IntActⁱ	Q64279, 6 interactors
STRINGⁱ	10090.ENSMUSP00000046999

PTM databases

iPTMnetⁱ	Q64279
PhosphoSitePlusⁱ	Q64279

Proteomic databases

PaxDbⁱ	Q64279
PRIDEⁱ	Q64279

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENSMUST00000036917; ENSMUSP00000046999; ENSMUSG00000037335 ENSMUST00000160392; ENSMUSP00000124951; ENSMUSG00000037335
GeneIDⁱ	15110
KEGGⁱ	mmu:15110
UCSCⁱ	uc007jaf.1 mouse

Organism-specific databases

CTDⁱ	9421
MGIⁱ	MGI:103577 Hand1

Phylogenomic databases

eggNOGⁱ	KOG4029 Eukaryota ENOG411227D LUCA
GeneTreeⁱ	ENSGT00760000119097
HOGENOMⁱ	HOG000232082
HOVERGENⁱ	HBG051880
InParanoidⁱ	Q64279
KOⁱ	K09071
OMAⁱ	RPYFQSW
OrthoDBⁱ	EOG091G0MSL
PhylomeDBⁱ	Q64279
TreeFamⁱ	TF315153

Miscellaneous databases

Protein Ontology More...PROⁱ	PR:Q64279
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSMUSG00000037335 Expressed in 165 organ(s), highest expression level in placenta
ExpressionAtlasⁱ	Q64279 baseline and differential
Genevisibleⁱ	Q64279 MM

Family and domain databases

CDDⁱ	cd00083 HLH, 1 hit
Gene3Dⁱ	4.10.280.10, 1 hit
InterProⁱ	View protein in InterPro IPR011598 bHLH_dom IPR036638 HLH_DNA-bd_sf
Pfamⁱ	View protein in Pfam PF00010 HLH, 1 hit
SMARTⁱ	View protein in SMART SM00353 HLH, 1 hit
SUPFAMⁱ	SSF47459 SSF47459, 1 hit
PROSITEⁱ	View protein in PROSITE PS50888 BHLH, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	HAND1_MOUSE
Accessionⁱ	Q64279Primary (citable) accession number: Q64279 Secondary accession number(s): Q61099
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
	Last sequence update:	November 1, 1996
	Last modified:	November 7, 2018
	This is version 152 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Reference proteome

Documents

MGD cross-references
Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q64279 (HAND1_MOUSE)

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Heart- and neural crest derivatives-expressed protein 1

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Nucleus

Nucleus

Other locations

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Compositional bias

Phylogenomic databases

Family and domain databases

Experimental Info

Sequence databases

Genome annotation databases

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ