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Aliases & Descriptions for HAND1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| EHAND 3 | | Hxt 1, 2 | | Thing1 1, 2 | | bHLHa27 1, 2 | | eHAND 3 | | eHand 1, 2 |
| | | Descriptions |
|---|
Extraembryonic tissues, heart, autonomic nervous system and neural crest derivatives-expressed protein 1 3 | | basic helix-loop-helix transcription factor HAND1 2 | | heart and neural crest derivatives expressed 1 2 |
|
| | Search outside databases for aliases for HAND1 genePrevious GC identifers: GC05M153925 GC05M154450 GC05M153883 |
Summaries for HAND1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for HAND1: 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] UniProtKB/Swiss-Prot: HAND1_HUMAN, O96004Function: Plays an essential role in early trophoblast 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 |
Genomic Location for HAND1
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the HAND1 gene 
Entrez Gene cytogenetic band: 5q33 Ensembl cytogenetic band: 5q33.2 HGNC cytogenetic band: 5q33HAND1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 5 GeneLoc Exon Structure GeneLoc location for GC05M153834:
(about GC identifiers)
Start:
|
153,834,725 bp from pter |
End:
|
153,838,017 bp from pter |
Size:
|
3,293 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000005.8 NT_029289.10
| Proteins for HAND1
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: HAND1_HUMAN, O96004 (See
protein sequence)Recommended Name: Heart- and neural crest derivatives-expressed protein 1 Size: 215 amino acids; 23627 Da
Subunit: 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) (By similarity)
Subcellular location: Nucleus (By similarity)REFSEQ proteins: NP_004812.1
ENSEMBL proteins: ENSP00000231121
Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: HAND1 
1 Gene Ontology (GO) cellular component term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005634 | nucleus |
IEA | -- | About this table
Antibodies for HAND1: Assays for HAND1: | Protein
Domains/ Families for HAND1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry O96004
ProtoNet protein and cluster: O96004 1 Blocks protein family: IPB001092 Basic helix-loop-helix dimerization domain bHLH
UniProtKB/Swiss-Prot: HAND1_HUMAN, O96004Similarity: Contains 1 basic helix-loop-helix (bHLH) domain | Gene Function for HAND1
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004821
Applied Biosystems Silencer® siRNAs for HAND1
Sigma-Aldrich siRNA for HAND1  Sigma-Aldrich shRNA for HAND1  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_004821                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_004821                                  untagged cDNA clone in CMV expression vector: NM_004821 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_004821
UniProtKB/Swiss-Prot: HAND1_HUMAN, O96004Function: Plays an essential role in early trophoblast 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)Genatlas biochemistry entry for HAND1: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 development9 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for Hand1):
5 Gene Ontology (GO) molecular function terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003700 | transcription factor activity |
TAS | 9931445 | | GO:0008134 | transcription factor binding |
IEA | -- | | GO:0016564 | transcription repressor activity |
IEA | -- | | GO:0042803 | protein homodimerization activity |
IEA | -- | | GO:0046982 | protein heterodimerization activity |
IEA | -- | About this table | Pathways & Interactions for HAND1
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 1 Sigma-Aldrich "Your Favorite Gene" Pathway for HAND1 (Your Favorite Gene powered by Ingenuity) 
5/20 Interacting proteins for HAND1 (ENSP000002311213) via UniProtKB, MINT, and/or STRING (see all 20
)About this table
5/11 Gene Ontology (GO) biological process terms (links to tree view) (see all 11
): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000122 | negative regulation of transcription from RNA polymerase II promoter |
IEA | -- | | GO:0001525 | angiogenesis |
IEA | -- | | GO:0001707 | mesoderm formation |
IEA | -- | | GO:0001829 | trophectodermal cell differentiation |
IEA | -- | | GO:0001892 | embryonic placenta development |
IEA | -- | About this table
|
Drugs & Compounds for HAND1(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for HAND1
|
Transcripts for HAND1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004821
Sigma-Aldrich siRNA for HAND1  Sigma-Aldrich shRNA for HAND1  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_004821 REFSEQ mRNAs for HAND1 gene: NM_004821.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_004821               OriGene GFP tagged cDNA clone in CMV expression vector: NM_004821                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_004821                                  untagged cDNA clone in CMV expression vector: NM_004821  Additional cDNA sequence: AF061756.1 BC021190.2 CR591821.1 CR594436.1 CR623464.1 1 DOTS entry: DT.40300767 24/44 AceView cDNA sequences (see all 44
):AF061756 CR623464 AA570506 AW072675 BC021190 NM_004821 CR591821 BX375669 AI990698 AA552943 CR594436 BI194869 AI638877 BM684910 BQ072228 BM012688 BE260728 BE314849 AA936953 AW615154 BM684815 BE463740 BI200151 AL524188
highest scoring ESTs for HAND1:AA570506 AA936953 AF061756 AI638877 AI990698 AW615154 BC021190 BE260728 BE312853 BE312914 Unigene Cluster for HAND1: Heart and neural crest derivatives expressed 1 Hs.152531 [show with all ESTs]Unigene Representative Sequence: AF061756
GeneLoc Exon Structure
2 Alternative Splicing Database (ASD) splice patterns (SP) for HAND1
| ExUns: | 1a | · | 1b | ^ | 2 | |
| SP1: | |   | |   | |   | |
| SP2: | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for HAND1
1 Ensembl transcript including schematic representation: ENST00000231121
|
Expression for HAND1
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| HAND1 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for HAND1
1 / 2 / 3 4 probe-sets matching HAND1 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: CCTGTTGTGC
SOURCE GeneReport for Unigene cluster: Hs.152531 UniProtKB/Swiss-Prot: HAND1_HUMAN, O96004Tissue specificity: Heart |
Orthologs for HAND1
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for HAND1 gene from 5/7 species (see all 7
)
About this table Species with no ortholog for HAND1
ENSEMBL Gene Tree for HAND1 | Paralogs for HAND1(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for HAND1 gene
- TWIST12 TCF152 SCXB2 HAND22 SCXA2
|
SNPs/Variants for HAND1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for HAND1 (up to first 250kb)
|
Disorders & Mutations for HAND1
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 602406
Human Gene Mutation Database: HAND1
|
Medical News for HAND1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for HAND1 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/44 PubMed articles for HAND1 gene (see all 44
):- Molecular cloning of the human Hand1 gene/cDNA and its tissue-restricted expression in cytotrophoblastic cells and heart. (PubMed id 9931445)1, 2, 3, 4 Knofler M....Egarter C. (1998)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Cloning, chromosomal mapping, and expression of the human eHAND gene. (PubMed id 9337404)2, 3 Russell M.W....Izumo S. (1997)
- Human Hand1 basic helix-loop-helix (bHLH) protein: extra-embryonic expression pattern, interaction partners and identification of its transcriptional repressor domains. (PubMed id 11802795)1, 3 Knofler M....Husslein P. (2002)
- Negative regulation of selected bHLH proteins by eHAND. (PubMed id 10837146)1, 3 Bounpheng M.A....Christy B.A. (2000)
- Differential regulation of Hand1 homodimer and Hand1-E12 heterodimer activity by the cofactor FHL2. (PubMed id 15509787)1, 3 Hill A.A. and Riley P.R. (2004)
- A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts. (PubMed id 18276607)1, 3 Reamon-Buettner S.M....Borlak J. (2008)
- HAND1 gene expression is negatively regulated by the High Mobility Group A1 proteins and is drastically reduced in human thyroid carcinomas. (PubMed id 19060921)3 Martinez Hoyos J....Fusco A. (2009)
- MEF2-dependent recruitment of the HAND1 transcription factor results in synergistic activation of target promoters. (PubMed id 16043483)3 Morin S....Nemer M. (2005)
- PKA, PKC, and the protein phosphatase 2A influence HAND factor function: a mechanism for tissue-specific transcriptional regulation. (PubMed id 14636580)3 Firulli B.A....Firulli A.B. (2003)
|
Search for HAND1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing HAND1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing HAND1
(According to HUGE)
About This Section
| -- |
Specialized Databases showing HAND1(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for HAND1(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for HAND1:

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Incremental update: 13 Oct 2009
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