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Q64279

- HAND1_MOUSE

UniProt

Q64279 - HAND1_MOUSE

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Protein

Heart- and neural crest derivatives-expressed protein 1

Gene

Hand1

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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

  1. bHLH transcription factor binding Source: BHF-UCL
  2. DNA binding Source: MGI
  3. enzyme binding Source: UniProtKB
  4. identical protein binding Source: IntAct
  5. protein heterodimerization activity Source: MGI
  6. protein homodimerization activity Source: BHF-UCL
  7. sequence-specific DNA binding Source: MGI
  8. transcription coactivator activity Source: BHF-UCL
  9. transcription factor binding Source: MGI
  10. transcription regulatory region DNA binding Source: Ensembl

GO - Biological processi

  1. angiogenesis Source: MGI
  2. cardiac left ventricle formation Source: Ensembl
  3. cardiac right ventricle formation Source: Ensembl
  4. cardiac septum morphogenesis Source: Ensembl
  5. cartilage morphogenesis Source: MGI
  6. cell differentiation Source: MGI
  7. cell fate determination Source: UniProtKB
  8. determination of heart left/right asymmetry Source: MGI
  9. embryonic heart tube development Source: MGI
  10. embryonic heart tube formation Source: MGI
  11. heart development Source: MGI
  12. heart looping Source: MGI
  13. heart morphogenesis Source: UniProtKB
  14. in utero embryonic development Source: MGI
  15. mesenchyme development Source: MGI
  16. mesoderm formation Source: MGI
  17. negative regulation of sequence-specific DNA binding transcription factor activity Source: MGI
  18. negative regulation of transcription from RNA polymerase II promoter Source: MGI
  19. odontogenesis of dentin-containing tooth Source: MGI
  20. positive regulation of transcription, DNA-templated Source: BHF-UCL
  21. positive regulation of transcription from RNA polymerase II promoter Source: MGI
  22. transcription from RNA polymerase II promoter Source: Ensembl
  23. trophectodermal cell differentiation Source: Ensembl
  24. trophoblast giant cell differentiation Source: UniProtKB
  25. ventricular cardiac muscle tissue morphogenesis Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Chromosome 11

Organism-specific databases

MGIiMGI:103577. Hand1.

Subcellular locationi

Nucleusnucleoplasm 1 Publication. Nucleusnucleolus 1 Publication
Note: Interaction with MDFIC sequesters it into the nucleolus, preventing the transcription factor activity. Phosphorylation by PLK4 disrupts the interaction with MDFIC and releases it from the nucleolus, leading to transcription factor activity.

GO - Cellular componenti

  1. cytoplasm Source: Ensembl
  2. nucleolus Source: UniProtKB
  3. nucleoplasm Source: UniProtKB
  4. nucleus Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi107 – 1071T → A: Remains exclusively in the nucleolus; when associated with A-109. 1 Publication
Mutagenesisi107 – 1071T → D: Adopts a nucleus-wide distribution; when associated with D-109. 1 Publication
Mutagenesisi109 – 1091S → A: Remains exclusively in the nucleolus; when associated with A-107. 1 Publication
Mutagenesisi109 – 1091S → D: Adopts a nucleus-wide distribution; when associated with D-107. 1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 216216Heart- and neural crest derivatives-expressed protein 1PRO_0000127185Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei107 – 1071Phosphothreonine; by PLK41 Publication
Modified residuei109 – 1091Phosphoserine; by PLK41 Publication

Post-translational modificationi

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

Keywords - PTMi

Phosphoprotein

Proteomic databases

PRIDEiQ64279.

PTM databases

PhosphoSiteiQ64279.

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

BgeeiQ64279.
ExpressionAtlasiQ64279. baseline and differential.
GenevestigatoriQ64279.

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

WithEntry#Exp.IntActNotes
itself2EBI-81361,EBI-81361
Hand2Q610393EBI-81361,EBI-81388
Tcf3P158062EBI-81361,EBI-81370

Protein-protein interaction databases

BioGridi200204. 7 interactions.
DIPiDIP-455N.
IntActiQ64279. 5 interactions.
STRINGi10090.ENSMUSP00000046999.

Structurei

3D structure databases

ProteinModelPortaliQ64279.
SMRiQ64279. Positions 102-150.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini94 – 14653bHLHPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi9 – 179Poly-His
Compositional biasi66 – 716Poly-Ala

Sequence similaritiesi

Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG259520.
GeneTreeiENSGT00760000119097.
HOGENOMiHOG000232082.
HOVERGENiHBG051880.
InParanoidiQ64279.
KOiK09071.
OMAiAHPMLHE.
OrthoDBiEOG7G1V82.
PhylomeDBiQ64279.
TreeFamiTF315153.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q64279-1 [UniParc]FASTAAdd 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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti6 – 61S → R in AAA86273. (PubMed:7671815)Curated
Sequence conflicti19 – 191P → A in AAA86273. (PubMed:7671815)Curated
Sequence conflicti131 – 1311S → P in AAA86273. (PubMed:7671815)Curated
Sequence conflicti149 – 1491V → A in AAA86273. (PubMed:7671815)Curated
Sequence conflicti164 – 1641A → V in AAA86273. (PubMed:7671815)Curated
Sequence conflicti187 – 1871S → G in AAA86273. (PubMed:7671815)Curated
Sequence conflicti208 – 2081Q → K in AAA86273. (PubMed:7671815)Curated

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U21226 mRNA. Translation: AAA86887.1.
S79216 mRNA. Translation: AAB35104.1.
U43714 mRNA. Translation: AAA86273.1.
CCDSiCCDS24721.1.
RefSeqiNP_032239.1. NM_008213.2.
UniGeneiMm.4746.

Genome annotation databases

EnsembliENSMUST00000036917; ENSMUSP00000046999; ENSMUSG00000037335.
ENSMUST00000160392; ENSMUSP00000124951; ENSMUSG00000037335.
GeneIDi15110.
KEGGimmu:15110.
UCSCiuc007jaf.1. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
SMRi Q64279. Positions 102-150.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 200204. 7 interactions.
DIPi DIP-455N.
IntActi Q64279. 5 interactions.
STRINGi 10090.ENSMUSP00000046999.

PTM databases

PhosphoSitei Q64279.

Proteomic databases

PRIDEi Q64279.

Protocols and materials databases

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 NOG259520.
GeneTreei ENSGT00760000119097.
HOGENOMi HOG000232082.
HOVERGENi HBG051880.
InParanoidi Q64279.
KOi K09071.
OMAi AHPMLHE.
OrthoDBi EOG7G1V82.
PhylomeDBi Q64279.
TreeFami TF315153.

Miscellaneous databases

NextBioi 287510.
PROi Q64279.
SOURCEi Search...

Gene expression databases

Bgeei Q64279.
ExpressionAtlasi Q64279. baseline and differential.
Genevestigatori Q64279.

Family and domain databases

Gene3Di 4.10.280.10. 1 hit.
InterProi IPR011598. bHLH_dom.
[Graphical view ]
Pfami PF00010. HLH. 1 hit.
[Graphical view ]
SMARTi SM00353. HLH. 1 hit.
[Graphical view ]
SUPFAMi SSF47459. SSF47459. 1 hit.
PROSITEi PS50888. BHLH. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: SUBUNIT.
  6. Cited for: SUBCELLULAR LOCATION, INTERACTION WITH MDFIC, PHOSPHORYLATION AT THR-107 AND SER-109, MUTAGENESIS OF THR-107 AND SER-109.

Entry informationi

Entry nameiHAND1_MOUSE
AccessioniPrimary (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: October 29, 2014
This is version 128 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3