O96004 (HAND1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	HAND1
Synonyms:	BHLHA27, EHAND

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	215 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	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.
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). Interacts with MDFIC By similarity.
Subcellular location	Nucleus › nucleoplasm By similarity. Nucleus › nucleolus 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.
Tissue specificity	Heart.
Post-translational modification	Phosphorylation by PLK4 disrupts the interaction with MDFIC and leads to tranlocation into the nucleoplasm, allowing dimerization and transcription factor activity By similarity.
Sequence similarities	Contains 1 bHLH (basic helix-loop-helix) domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Ligand	DNA-binding
Molecular function	Activator Developmental protein
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	angiogenesis Inferred from sequence or structural similarity. Source: BHF-UCL cardiac left ventricle formation Inferred from mutant phenotype PubMed 18276607. Source: BHF-UCL cardiac right ventricle formation Inferred from mutant phenotype PubMed 18276607. Source: BHF-UCL cardiac septum morphogenesis Inferred from mutant phenotype PubMed 19586923. Source: BHF-UCL cartilage morphogenesis Inferred from electronic annotation. Source: Compara embryonic heart tube formation Inferred from electronic annotation. Source: Compara heart looping Inferred from sequence or structural similarity. Source: BHF-UCL mesenchyme development Inferred from electronic annotation. Source: Compara mesoderm formation Inferred from electronic annotation. Source: Compara negative regulation of sequence-specific DNA binding transcription factor activity Inferred from electronic annotation. Source: Compara negative regulation of transcription from RNA polymerase II promoter Inferred from direct assay PubMed 11802795. Source: BHF-UCL odontogenesis of dentin-containing tooth Inferred from electronic annotation. Source: Compara positive regulation of transcription from RNA polymerase II promoter Inferred from direct assay PubMed 16043483. Source: BHF-UCL transcription from RNA polymerase II promoter Inferred from direct assay PubMed 11802795. Source: BHF-UCL trophectodermal cell differentiation Inferred from expression pattern PubMed 11802795. Source: BHF-UCL trophoblast giant cell differentiation Inferred from electronic annotation. Source: Compara ventricular cardiac muscle tissue morphogenesis Inferred from mutant phenotype PubMed 18276607. Source: BHF-UCL
Cellular_component	cytoplasm Inferred from direct assay PubMed 11802795. Source: BHF-UCL nucleolus Inferred from electronic annotation. Source: UniProtKB-SubCell nucleoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from direct assay PubMed 11802795. Source: BHF-UCL
Molecular_function	protein homodimerization activity Non-traceable author statement PubMed 16043483. Source: BHF-UCL sequence-specific DNA binding Inferred from electronic annotation. Source: Compara transcription coactivator activity Inferred from direct assay PubMed 16043483. Source: BHF-UCL
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 215	215	Heart- and neural crest derivatives-expressed protein 1		PRO_0000127184
Regions
	Domain	94 – 146	53	bHLH
	Compositional bias	9 – 17	9	Poly-His
	Compositional bias	64 – 71	8	Poly-Ala
Amino acid modifications
	Modified residue	107	1	Phosphothreonine; by PLK4 By similarity
	Modified residue	109	1	Phosphoserine; by PLK4 By similarity

Sequences

	Sequence		Length	Mass (Da)
	O96004 [UniParc]. Last modified May 1, 1999. Version 1. Checksum: 7ED98EA081A8D6BA	FASTA	215	23,627
	10 20 30 40 50 60 MNLVGSYAHH HHHHHPHPAH PMLHEPFLFG PASRCHQERP YFQSWLLSPA DAAPDFPAGG 70 80 90 100 110 120 PPPAAAAAAT AYGPDARPGQ SPGRLEALGG RLGRRKGSGP KKERRRTESI NSAFAELREC 130 140 150 160 170 180 IPNVPADTKL SKIKTLRLAT SYIAYLMDVL AKDAQSGDPE AFKAELKKAD GGRESKRKRE 190 200 210 LQQHEGFPPA LGPVEKRIKG RTGWPQQVWA LELNQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF063012 Genomic DNA. Translation: AAD19283.1. AF061756 mRNA. Translation: AAD19280.1. BC021190 mRNA. Translation: AAH21190.1.
IPI	IPI00014052.
RefSeq	NP_004812.1. NM_004821.2.
UniGene	Hs.152531.
3D structure databases
ProteinModelPortal	O96004.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000231121.
PTM databases
PhosphoSite	O96004.
Proteomic databases
PaxDb	O96004.
PRIDE	O96004.
Protocols and materials databases
DNASU	9421.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000231121; ENSP00000231121; ENSG00000113196.
GeneID	9421.
KEGG	hsa:9421.
UCSC	uc003lvn.3. human.
Organism-specific databases
CTD	9421.
GeneCards	GC05M153834.
HGNC	HGNC:4807. HAND1.
HPA	HPA040925.
MIM	602406. gene.
neXtProt	NX_O96004.
PharmGKB	PA29183.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG259520.
HOGENOM	HOG000232082.
HOVERGEN	HBG051880.
InParanoid	O96004.
KO	K09071.
OMA	RPYFQSW.
OrthoDB	EOG4FTW1T.
PhylomeDB	O96004.
Gene expression databases
Bgee	O96004.
CleanEx	HS_HAND1.
Genevestigator	O96004.
GermOnline	ENSG00000113196. Homo sapiens.
Family and domain databases
Gene3D	4.10.280.10. 1 hit.
InterPro	IPR011598. bHLH_dom. [Graphical view]
Pfam	PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. [Graphical view]
SUPFAM	SSF47459. HLH_basic. 1 hit.
PROSITE	PS50888. BHLH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	9421.
NextBio	35290.
SOURCE	Search...

Entry information

Entry name

HAND1_HUMAN

Accession

Primary (citable) accession number: O96004

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
Last sequence update:	May 1, 1999
Last modified:	May 1, 2013
This is version 112 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.