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Protein

Heart- and neural crest derivatives-expressed protein 1

Gene

HAND1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript 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) (By similarity).By similarity

GO - Molecular functioni

  1. bHLH transcription factor binding Source: BHF-UCL
  2. identical protein binding Source: BHF-UCL
  3. protein homodimerization activity Source: BHF-UCL
  4. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: NTNU_SB
  5. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription Source: NTNU_SB
  6. transcription coactivator activity Source: BHF-UCL
  7. transcription corepressor activity Source: BHF-UCL
  8. transcription factor binding Source: BHF-UCL

GO - Biological processi

  1. angiogenesis Source: BHF-UCL
  2. blastocyst development Source: BHF-UCL
  3. cardiac left ventricle formation Source: BHF-UCL
  4. cardiac right ventricle formation Source: BHF-UCL
  5. cardiac septum morphogenesis Source: BHF-UCL
  6. cartilage morphogenesis Source: Ensembl
  7. embryonic heart tube development Source: BHF-UCL
  8. embryonic heart tube formation Source: Ensembl
  9. heart development Source: BHF-UCL
  10. heart looping Source: BHF-UCL
  11. mesenchyme development Source: Ensembl
  12. mesoderm formation Source: Ensembl
  13. negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding Source: BHF-UCL
  14. negative regulation of sequence-specific DNA binding transcription factor activity Source: BHF-UCL
  15. negative regulation of transcription, DNA-templated Source: BHF-UCL
  16. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  17. odontogenesis of dentin-containing tooth Source: Ensembl
  18. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  19. transcription from RNA polymerase II promoter Source: BHF-UCL
  20. trophectodermal cell differentiation Source: BHF-UCL
  21. trophoblast giant cell differentiation Source: Ensembl
  22. ventricular cardiac muscle tissue morphogenesis Source: BHF-UCL
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):
Class A basic helix-loop-helix protein 27
Short name:
bHLHa27
Extraembryonic tissues, heart, autonomic nervous system and neural crest derivatives-expressed protein 1
Short name:
eHAND
Gene namesi
Name:HAND1
Synonyms:BHLHA27, EHAND
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:4807. HAND1.

Subcellular locationi

Nucleusnucleoplasm By similarity. Nucleusnucleolus By similarity
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 (By similarity).By similarity

GO - Cellular componenti

  1. cytoplasm Source: BHF-UCL
  2. nucleolus Source: UniProtKB-SubCell
  3. nucleoplasm Source: UniProtKB-SubCell
  4. nucleus Source: BHF-UCL
  5. RNA polymerase II transcription factor complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA29183.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 215215Heart- and neural crest derivatives-expressed protein 1PRO_0000127184Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei107 – 1071Phosphothreonine; by PLK4By similarity
Modified residuei109 – 1091Phosphoserine; by PLK4By similarity

Post-translational modificationi

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

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiO96004.
PRIDEiO96004.

PTM databases

PhosphoSiteiO96004.

Expressioni

Tissue specificityi

Heart.

Gene expression databases

BgeeiO96004.
CleanExiHS_HAND1.
GenevestigatoriO96004.

Organism-specific databases

HPAiHPA040925.

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 (By similarity).By similarity

Protein-protein interaction databases

BioGridi114814. 6 interactions.
STRINGi9606.ENSP00000231121.

Structurei

3D structure databases

ProteinModelPortaliO96004.
SMRiO96004. 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 biasi64 – 718Poly-Ala

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiNOG259520.
GeneTreeiENSGT00760000119097.
HOGENOMiHOG000232082.
HOVERGENiHBG051880.
InParanoidiO96004.
KOiK09071.
OMAiRPYFQSW.
OrthoDBiEOG7G1V82.
PhylomeDBiO96004.
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.

O96004-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MNLVGSYAHH HHHHHPHPAH PMLHEPFLFG PASRCHQERP YFQSWLLSPA
60 70 80 90 100
DAAPDFPAGG PPPAAAAAAT AYGPDARPGQ SPGRLEALGG RLGRRKGSGP
110 120 130 140 150
KKERRRTESI NSAFAELREC IPNVPADTKL SKIKTLRLAT SYIAYLMDVL
160 170 180 190 200
AKDAQSGDPE AFKAELKKAD GGRESKRKRE LQQHEGFPPA LGPVEKRIKG
210
RTGWPQQVWA LELNQ
Length:215
Mass (Da):23,627
Last modified:May 1, 1999 - v1
Checksum:i7ED98EA081A8D6BA
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF063012 Genomic DNA. Translation: AAD19283.1.
AF061756 mRNA. Translation: AAD19280.1.
BC021190 mRNA. Translation: AAH21190.1.
CCDSiCCDS4327.1.
RefSeqiNP_004812.1. NM_004821.2.
UniGeneiHs.152531.

Genome annotation databases

EnsembliENST00000231121; ENSP00000231121; ENSG00000113196.
GeneIDi9421.
KEGGihsa:9421.
UCSCiuc003lvn.3. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF063012 Genomic DNA. Translation: AAD19283.1.
AF061756 mRNA. Translation: AAD19280.1.
BC021190 mRNA. Translation: AAH21190.1.
CCDSiCCDS4327.1.
RefSeqiNP_004812.1. NM_004821.2.
UniGeneiHs.152531.

3D structure databases

ProteinModelPortaliO96004.
SMRiO96004. Positions 102-150.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114814. 6 interactions.
STRINGi9606.ENSP00000231121.

PTM databases

PhosphoSiteiO96004.

Proteomic databases

PaxDbiO96004.
PRIDEiO96004.

Protocols and materials databases

DNASUi9421.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000231121; ENSP00000231121; ENSG00000113196.
GeneIDi9421.
KEGGihsa:9421.
UCSCiuc003lvn.3. human.

Organism-specific databases

CTDi9421.
GeneCardsiGC05M153834.
HGNCiHGNC:4807. HAND1.
HPAiHPA040925.
MIMi602406. gene.
neXtProtiNX_O96004.
PharmGKBiPA29183.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG259520.
GeneTreeiENSGT00760000119097.
HOGENOMiHOG000232082.
HOVERGENiHBG051880.
InParanoidiO96004.
KOiK09071.
OMAiRPYFQSW.
OrthoDBiEOG7G1V82.
PhylomeDBiO96004.
TreeFamiTF315153.

Miscellaneous databases

GeneWikiiHAND1.
GenomeRNAii9421.
NextBioi35290.
PROiO96004.
SOURCEiSearch...

Gene expression databases

BgeeiO96004.
CleanExiHS_HAND1.
GenevestigatoriO96004.

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]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning of the human Hand1 gene/cDNA and its tissue-restricted expression in cytotrophoblastic cells and heart."
    Knoefler M., Meinhardt G., Vasicek R., Husslein P., Egarter C.
    Gene 224:77-86(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
    Tissue: Heart.
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.

Entry informationi

Entry nameiHAND1_HUMAN
AccessioniPrimary (citable) accession number: O96004
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 1, 1999
Last modified: February 4, 2015
This is version 126 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.