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Aliases for HAND1 Gene

Aliases for HAND1 Gene

  • Heart And Neural Crest Derivatives Expressed 1 2 3
  • Extraembryonic Tissues, Heart, Autonomic Nervous System And Neural Crest Derivatives-Expressed Protein 1 3 4
  • Class A Basic Helix-Loop-Helix Protein 27 3 4
  • BHLHa27 3 4
  • EHand 3 4
  • Heart- And Neural Crest Derivatives-Expressed Protein 1 3
  • Thing1 3
  • Hxt 3

External Ids for HAND1 Gene

Summaries for HAND1 Gene

Entrez Gene Summary for HAND1 Gene

  • The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation. [provided by RefSeq, Jul 2008]

GeneCards Summary for HAND1 Gene

HAND1 (Heart And Neural Crest Derivatives Expressed 1) is a Protein Coding gene. Diseases associated with HAND1 include congenital heart disease and ventricular septal defect. Among its related pathways are Heart Development and NFAT and Cardiac Hypertrophy. GO annotations related to this gene include protein homodimerization activity and identical protein binding. An important paralog of this gene is LYL1.

UniProtKB/Swiss-Prot for HAND1 Gene

  • 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).

Gene Wiki entry for HAND1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HAND1 Gene

Genomics for HAND1 Gene

Genomic Location for HAND1 Gene

Start:
154,474,972 bp from pter
End:
154,478,264 bp from pter
Size:
3,293 bases
Orientation:
Minus strand

Genomic View for HAND1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HAND1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HAND1 Gene

Regulatory Elements for HAND1 Gene

Proteins for HAND1 Gene

  • Protein details for HAND1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O96004-HAND1_HUMAN
    Recommended name:
    Heart- and neural crest derivatives-expressed protein 1
    Protein Accession:
    O96004
    Secondary Accessions:

    Protein attributes for HAND1 Gene

    Size:
    215 amino acids
    Molecular mass:
    23627 Da
    Quaternary 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).

neXtProt entry for HAND1 Gene

Proteomics data for HAND1 Gene at MOPED

Post-translational modifications for HAND1 Gene

  • Phosphorylation by PLK4 disrupts the interaction with MDFIC and leads to tranlocation into the nucleoplasm, allowing dimerization and transcription factor activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HAND1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HAND1 Gene

Domains for HAND1 Gene

Gene Families for HAND1 Gene

HGNC:
  • bHLH :Basic helix-loop-helix proteins

Protein Domains for HAND1 Gene

Suggested Antigen Peptide Sequences for HAND1 Gene

Graphical View of Domain Structure for InterPro Entry

O96004

UniProtKB/Swiss-Prot:

HAND1_HUMAN
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.:
    • O96004
genes like me logo Genes that share domains with HAND1: view

Function for HAND1 Gene

Molecular function for HAND1 Gene

GENATLAS Biochemistry: heart and neural crest derivatives expressed 1,murine eHAND gene homolog,expressed in cytotrophoblastic cells,in prenatal and adult heart,required for trophoblast giant cell differentiation,involved in cardiac looping,ventricular maturation and conotruncal development
UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for HAND1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 11802795
GO:0001078 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IDA 11802795
GO:0003677 DNA binding --
GO:0003713 transcription coactivator activity IDA 16043483
GO:0003714 transcription corepressor activity IC 11802795
genes like me logo Genes that share ontologies with HAND1: view
genes like me logo Genes that share phenotypes with HAND1: view

Animal Models for HAND1 Gene

MGI Knock Outs for HAND1:

miRNA for HAND1 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for HAND1 Gene

Localization for HAND1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HAND1 Gene

Nucleus, nucleoplasm. Nucleus, nucleolus. 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). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HAND1 Gene COMPARTMENTS Subcellular localization image for HAND1 gene
Compartment Confidence
nucleus 4
cytosol 2
extracellular 2
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for HAND1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 11802795
GO:0005654 nucleoplasm IEA --
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm IDA 11802795
GO:0090575 RNA polymerase II transcription factor complex IDA 11802795
genes like me logo Genes that share ontologies with HAND1: view

Pathways for HAND1 Gene

genes like me logo Genes that share pathways with HAND1: view

Gene Ontology (GO) - Biological Process for HAND1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 11802795
GO:0001525 angiogenesis ISS --
GO:0001701 in utero embryonic development --
GO:0001707 mesoderm formation IEA --
GO:0001824 blastocyst development IEP 11802795
genes like me logo Genes that share ontologies with HAND1: view

Transcripts for HAND1 Gene

mRNA/cDNA for HAND1 Gene

(2) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(44) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HAND1 Gene

Heart and neural crest derivatives expressed 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HAND1 Gene

ExUns: 1a · 1b ^ 2
SP1:
SP2:

Relevant External Links for HAND1 Gene

GeneLoc Exon Structure for
HAND1
ECgene alternative splicing isoforms for
HAND1

Expression for HAND1 Gene

mRNA expression in normal human tissues for HAND1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HAND1 Gene

This gene is overexpressed in Colon - Sigmoid (22.6), Heart - Left Ventricle (10.2), Small Intestine - Terminal Ileum (8.3), and Colon - Transverse (5.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for HAND1 Gene

SOURCE GeneReport for Unigene cluster for HAND1 Gene Hs.152531

mRNA Expression by UniProt/SwissProt for HAND1 Gene

O96004-HAND1_HUMAN
Tissue specificity: Heart
genes like me logo Genes that share expressions with HAND1: view

Orthologs for HAND1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HAND1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HAND1 35
  • 99.22 (n)
  • 99.53 (a)
HAND1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HAND1 35
  • 93.33 (n)
  • 98.14 (a)
HAND1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HAND1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hand1 35
  • 86.98 (n)
  • 92.56 (a)
Hand1 16
Hand1 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HAND1 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HAND1 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hand1 35
  • 87.91 (n)
  • 93.95 (a)
chicken
(Gallus gallus)
Aves HAND1 35
  • 77.66 (n)
  • 80.32 (a)
HAND1 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 27 (a)
ManyToMany
African clawed frog
(Xenopus laevis)
Amphibia hand1-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia hand1 35
  • 68.05 (n)
  • 72.02 (a)
Str.11172 35
zebrafish
(Danio rerio)
Actinopterygii twist3 36
  • 21 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Hand 35
  • 48.63 (n)
  • 53.28 (a)
Hand 36
  • 40 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4380 36
  • 18 (a)
OneToMany
Species with no ortholog for HAND1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HAND1 Gene

ENSEMBL:
Gene Tree for HAND1 (if available)
TreeFam:
Gene Tree for HAND1 (if available)

Paralogs for HAND1 Gene

Paralogs for HAND1 Gene

Selected SIMAP similar genes for HAND1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with HAND1: view

Variants for HAND1 Gene

Sequence variations from dbSNP and Humsavar for HAND1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs924581 -- 154,476,329(+) TGCAG(A/G)CTTGG intron-variant
rs993098 -- 154,478,136(+) GGGCA(A/C)GGCTG utr-variant-5-prime
rs1846966 -- 154,477,414(+) TGAGG(C/G)TGCTC intron-variant
rs2351484 -- 154,478,609(+) CTTTT(C/G)ATTTT upstream-variant-2KB
rs3822714 -- 154,478,209(+) CCCAA(A/G)GACCT utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for HAND1 Gene

Variant ID Type Subtype PubMed ID
nsv830520 CNV Loss 17160897
esv275523 CNV Loss 21479260

Relevant External Links for HAND1 Gene

HapMap Linkage Disequilibrium report
HAND1
Human Gene Mutation Database (HGMD)
HAND1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HAND1 Gene

Disorders for HAND1 Gene

Relevant External Links for HAND1

Genetic Association Database (GAD)
HAND1
Human Genome Epidemiology (HuGE) Navigator
HAND1
genes like me logo Genes that share disorders with HAND1: view

No data available for UniProtKB/Swiss-Prot for HAND1 Gene

Publications for HAND1 Gene

  1. Molecular cloning of the human Hand1 gene/cDNA and its tissue- restricted expression in cytotrophoblastic cells and heart. (PMID: 9931445) Knoefler M. … Egarter C. (Gene 1998) 2 3 4 23
  2. Negative regulation of selected bHLH proteins by eHAND. (PMID: 10837146) Bounpheng M.A. … Christy B.A. (Exp. Cell Res. 2000) 3 23
  3. Human Hand1 basic helix-loop-helix (bHLH) protein: extra-embryonic expression pattern, interaction partners and identification of its transcriptional repressor domains. (PMID: 11802795) KnAPfler M. … Husslein P. (Biochem. J. 2002) 3 23
  4. Differential regulation of Hand1 homodimer and Hand1-E12 heterodimer activity by the cofactor FHL2. (PMID: 15509787) Hill A.A. … Riley P.R. (Mol. Cell. Biol. 2004) 3 23
  5. A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts. (PMID: 18276607) Reamon-Buettner S.M. … Borlak J. (Hum. Mol. Genet. 2008) 3 23

Products for HAND1 Gene

Sources for HAND1 Gene

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