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Protein

Heart- and neural crest derivatives-expressed protein 1

Gene

Hand1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -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

GO - Biological processi

Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding
Biological processTranscription, 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
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 11

Organism-specific databases

MGIiMGI:103577 Hand1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi107T → A: Remains exclusively in the nucleolus; when associated with A-109. 1 Publication1
Mutagenesisi107T → D: Adopts a nucleus-wide distribution; when associated with D-109. 1 Publication1
Mutagenesisi109S → A: Remains exclusively in the nucleolus; when associated with A-107. 1 Publication1
Mutagenesisi109S → D: Adopts a nucleus-wide distribution; when associated with D-107. 1 Publication1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001271851 – 216Heart- and neural crest derivatives-expressed protein 1Add BLAST216

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei107Phosphothreonine; by PLK41 Publication1
Modified residuei109Phosphoserine; by PLK41 Publication1

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

PaxDbiQ64279
PRIDEiQ64279

PTM databases

iPTMnetiQ64279
PhosphoSitePlusiQ64279

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

BgeeiENSMUSG00000037335 Expressed in 165 organ(s), highest expression level in placenta
ExpressionAtlasiQ64279 baseline and differential
GenevisibleiQ64279 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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi200204, 7 interactors
DIPiDIP-455N
IntActiQ64279, 6 interactors
STRINGi10090.ENSMUSP00000046999

Structurei

3D structure databases

ProteinModelPortaliQ64279
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini94 – 146bHLHPROSITE-ProRule annotationAdd BLAST53

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi9 – 17Poly-His9
Compositional biasi66 – 71Poly-Ala6

Phylogenomic databases

eggNOGiKOG4029 Eukaryota
ENOG411227D LUCA
GeneTreeiENSGT00760000119097
HOGENOMiHOG000232082
HOVERGENiHBG051880
InParanoidiQ64279
KOiK09071
OMAiRPYFQSW
OrthoDBiEOG091G0MSL
PhylomeDBiQ64279
TreeFamiTF315153

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView 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 allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5SQG0Q5SQG0_MOUSE
Heart- and neural crest derivatives...
Hand1
31Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti6S → R in AAA86273 (PubMed:7671815).Curated1
Sequence conflicti19P → A in AAA86273 (PubMed:7671815).Curated1
Sequence conflicti131S → P in AAA86273 (PubMed:7671815).Curated1
Sequence conflicti149V → A in AAA86273 (PubMed:7671815).Curated1
Sequence conflicti164A → V in AAA86273 (PubMed:7671815).Curated1
Sequence conflicti187S → G in AAA86273 (PubMed:7671815).Curated1
Sequence conflicti208Q → K in AAA86273 (PubMed:7671815).Curated1

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
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

Similar proteinsi

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
CCDSiCCDS24721.1
RefSeqiNP_032239.1, NM_008213.2
UniGeneiMm.4746

3D structure databases

ProteinModelPortaliQ64279
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi200204, 7 interactors
DIPiDIP-455N
IntActiQ64279, 6 interactors
STRINGi10090.ENSMUSP00000046999

PTM databases

iPTMnetiQ64279
PhosphoSitePlusiQ64279

Proteomic databases

PaxDbiQ64279
PRIDEiQ64279

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi9421
MGIiMGI:103577 Hand1

Phylogenomic databases

eggNOGiKOG4029 Eukaryota
ENOG411227D LUCA
GeneTreeiENSGT00760000119097
HOGENOMiHOG000232082
HOVERGENiHBG051880
InParanoidiQ64279
KOiK09071
OMAiRPYFQSW
OrthoDBiEOG091G0MSL
PhylomeDBiQ64279
TreeFamiTF315153

Miscellaneous databases

PROiPR:Q64279
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000037335 Expressed in 165 organ(s), highest expression level in placenta
ExpressionAtlasiQ64279 baseline and differential
GenevisibleiQ64279 MM

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiHAND1_MOUSE
AccessioniPrimary (citable) accession number: Q64279
Secondary accession number(s): Q61099
Entry historyiIntegrated 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 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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