Heart- and neural crest derivatives-expressed protein 1

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Reviewed, UniProtKB/Swiss-Prot Q64279 (HAND1_MOUSE)

Last modified June 16, 2009. Version 73. History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

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Names and origin

Protein names

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 names

Name:	Hand1
Synonyms:	Ehand, Hxt, Thing1

Organism

Mus musculus (Mouse)

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus

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Protein attributes

Sequence length	216 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

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General annotation (Comments)

Function	Plays an essential role in both trophoblast-giant cells differentiation, cardiac morphogenesis and formation of neural crest derivatives. Binds the DNA sequence 5'-NRTCTG-3' (non-canonical E-box). Ref.4
Subunit structure	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). Ref.5
Subcellular location	Nucleus By similarity.
Tissue specificity	Smooth muscle cells of the gut and adrenal tissue.
Developmental stage	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. Ref.4 Ref.2
Sequence similarities	Contains 1 basic helix-loop-helix (bHLH) domain.

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Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Ligand	DNA-binding
Molecular function	Developmental protein
Gene Ontology (GO)
Biological process	angiogenesis Inferred from mutant phenotype. Source: MGI embryonic heart tube development Ref.4 Inferred from mutant phenotype. Source: MGI embryonic placenta development Ref.4 Inferred from mutant phenotype. Source: MGI heart looping Ref.4 Inferred from mutant phenotype. Source: MGI mesoderm formation Inferred from mutant phenotype. Source: MGI negative regulation of transcription from RNA polymerase II promoter Inferred from genetic interaction. Source: MGI positive regulation of transcription from RNA polymerase II promoter Inferred from direct assay. Source: MGI transcription Inferred from electronic annotation. Source: UniProtKB-KW trophectodermal cell differentiation Ref.4 Inferred from mutant phenotype. Source: MGI ventricular cardiac muscle morphogenesis Ref.4 Inferred from mutant phenotype. Source: MGI
Cellular component	nucleus Inferred from direct assay. Source: MGI
Molecular function	protein heterodimerization activity Inferred from physical interaction. Source: MGI protein homodimerization activity Inferred from physical interaction. Source: MGI transcription factor binding Inferred from physical interaction. Source: MGI transcription repressor activity Inferred from genetic interaction. Source: MGI
Complete GO annotation...

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Binary interactions

With	Entry	#Exp.	IntAct
itself		1	EBI-81361,EBI-81361
Hand2	Q61039	2	EBI-81361,EBI-81388
Hey2	Q9QUS4	1	EBI-81361,EBI-81414
Heyl	Q9DBX7	1	EBI-81361,EBI-81443
Tcf3	P15806	1	EBI-81361,EBI-81370

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 216

216

Heart- and neural crest derivatives-expressed protein 1

PRO_0000127185

Regions

Domain

107 – 150

Helix-loop-helix motif

DNA binding

94 – 106

Basic motif

Compositional bias

9 – 17

Poly-His

Compositional bias

66 – 71

Poly-Ala

Experimental info

Sequence conflict

S → R in AAA86273. Ref.3

Sequence conflict

P → A in AAA86273. Ref.3

Sequence conflict

131

S → P in AAA86273. Ref.3

Sequence conflict

149

V → A in AAA86273. Ref.3

Sequence conflict

164

A → V in AAA86273. Ref.3

Sequence conflict

187

S → G in AAA86273. Ref.3

Sequence conflict

208

Q → K in AAA86273. Ref.3

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Sequences

Sequence

Length

Mass (Da)

Tools

Q64279-1 [UniParc].

Last modified November 1, 1996. Version 1.
Checksum: 307B14BB835833F1
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FASTA

216

23,806

        10         20         30         40         50         60 
MNLVGSYAHH HHHHHSHPPH PMLHEPFLFG PASRCHQERP YFQSWLLSPA DAAPDFPAGG 

        70         80         90        100        110        120 
PPPTTAVAAA AYGPDARPSQ SPGRLEALGS RLPKRKGSGP KKERRRTESI NSAFAELREC 

       130        140        150        160        170        180 
IPNVPADTKL SKIKTLRLAT SYIAYLMDVL AKDAQAGDPE AFKAELKKTD GGRESKRKRE 

       190        200        210 
LPQQPESFPP ASGPGEKRIK GRTGWPQQVW ALELNQ

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References

[1]	"Identification of a new family of tissue-specific basic helix-loop-helix proteins with a two-hybrid system." Hollenberg S.M., Sternglanz R., Cheng P.F., Weintraub H. Mol. Cell. Biol. 15:3813-3822(1995) [PubMed: 7791788] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Strain: NIH Swiss. Tissue: Embryo.
[2]	"Expression of the novel basic helix-loop-helix gene eHAND in neural crest derivatives and extraembryonic membranes during mouse development." Cserjesi P., Brown D., Lyons G.E., Olson E.N. Dev. Biol. 170:664-678(1995) [PubMed: 7649392] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], DEVELOPMENTAL STAGE. Tissue: Embryo.
[3]	"Hxt encodes a basic helix-loop-helix transcription factor that regulates trophoblast cell development." Cross J.C., Flannery M.L., Blanar M.A., Steingrimsson E., Jenkins N.A., Copeland N.G., Rutter W.J., Werb Z. Development 121:2513-2523(1995) [PubMed: 7671815] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Strain: 129/Sv. Tissue: Embryoid bodies.
[4]	"The Hand1 bHLH transcription factor is essential for placentation and cardiac morphogenesis." Riley P., Anson-Cartwright L., Cross J.C. Nat. Genet. 18:271-275(1998) [PubMed: 9500551] [Abstract] Cited for: FUNCTION, DEVELOPMENTAL STAGE.
[5]	"The basic helix-loop-helix transcription factors dHAND and eHAND exhibit dimerization characteristics that suggest complex regulation of function." Firulli B.A., Hadzic D.B., McDaid J.R., Firulli A.B. J. Biol. Chem. 275:33567-33573(2000) [PubMed: 10924525] [Abstract] Cited for: SUBUNIT.
+	Additional computationally mapped references.

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Cross-references

Sequence databases
	U21226 mRNA. Translation: AAA86887.1. S79216 mRNA. Translation: AAB35104.1. U43714 mRNA. Translation: AAA86273.1.
IPI	IPI00132280.
RefSeq	NP_032239.1.
UniGene	Mm.4746
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q64279. 5 interactions.
Genome annotation databases
Ensembl	ENSMUSG00000037335. Mus musculus. [Contig view]
GeneID	15110.
KEGG	mmu:15110.
Organism-specific databases
MGI	MGI:103577. Hand1.
Phylogenomic databases
HOGENOM	Q64279.
HOVERGEN	Q64279.
OMA	Q64279. DFPAGGP.
Gene expression databases
ArrayExpress	Q64279.
Bgee	Q64279.
GermOnline	ENSMUSG00000037335. Mus musculus.
Family and domain databases
InterPro	IPR001092. HLH_basic. IPR011598. HLH_DNA_bd. [Graphical view]
Gene3D	G3DSA:4.10.280.10. HLH_DNA_bd. 1 hit.
Pfam	PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. [Graphical view]
PROSITE	PS50888. HLH. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	287510.
SOURCE	Search...

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Entry information

Entry name

HAND1_MOUSE

Accession

Primary (citable) accession number: Q64279
Secondary accession number(s): Q61099

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
Last sequence update:	November 1, 1996
Last modified:	June 16, 2009
This is version 73 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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Relevant documents

MGD cross-references

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

SIMILARITY comments

Index of protein domains and families

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Sequence annotation (Features)

Molecule processing

Regions

Experimental info

Sequences

References

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents