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HAND1 Gene

protein-coding   GIFtS: 56

GC05M153834
heart and neural crest derivatives expressed 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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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
External Ids
HGNC: 48071
Entrez Gene: 94212
UniProtKB: O960043
Ensembl: ENSG000001131967
Search outside databases for aliases for HAND1 gene

Previous GC identifers: GC05M153925 GC05M154450 GC05M153883

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, O96004
Function: 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

(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)
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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: 5q33

HAND1 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  
(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)
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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 
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Browse Purified and Recombinant Proteins at Millipore
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Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (HAND1)
Human Recombinant Proteins from Abnova (HAND1)
              OriGene Purified Recombinant Human Protein: HAND1 

1 Gene Ontology (GO) cellular component term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005634 nucleus IEA--
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Antibodies for HAND1: 
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Sigma-Aldrich Antibodies for HAND1
R&D Systems Antibodies for HAND1
Antibodies from Abcam (HAND1), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (HAND1)
Search Novus for antibodies for HAND1

Assays for HAND1: 
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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro domains/families:
 IPR001092 HLH_basic
 IPR011598 HLH_DNA_bd


   GeneDecks  HAND1 for the domains selected above  
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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, O96004
Similarity: Contains 1 basic helix-loop-helix (bHLH) domain

(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

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (HAND1)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (HAND1)
              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  

Clones:Browse Clone Ranger at Invitrogen for clones
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              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, O96004
Function: 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 development

9 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Hand1):

embryogenesisgrowth/sizehomeostasis/metabolismlethality-postnatal
lethality-prenatal/perinatalmusclenervous systemnormal

5 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0003700 transcription factor activity TAS9931445
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 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.)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for  HAND1  (Your Favorite Gene powered by Ingenuity) 
 Cardiac Hypertrophy Signaling

   GeneDecks  HAND1 for the pathways selected above  
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5/20 Interacting proteins for HAND1 (ENSP000002311213) via UniProtKB, MINT, and/or STRING (see all 20 )
InteractantInteraction Details
GeneCardExternal ID(s)
HAND2ENSP000003525653STRING (score=.964)
NKX2-5ENSP000003277583STRING (score=.956)
FHL2ENSP000003442663STRING (score=.953)
NFATC1ENSP000003278503STRING (score=.922)
SOX15ENSP000003553543STRING (score=.909)
About this table

5/11 Gene Ontology (GO) biological process terms (links to tree view) (see all 11 ):

GO IDQualified GO termEvidencePubMed 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
(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 drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds 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

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (HAND1)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (HAND1)
              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  
(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


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

72359_at2, 3 U95-E 1 1.00 1.00 0.52 0.88 AI638877 0.80 1.00 0.91 1
80907_at2, 3 U95-D 1 1.00 1.00 0.98 1.13 AA570506 0.80 1.00 0.91 1

220138_at2, 3 U133-A 1 1.00 1.00 -- -- NM_004821 0.60 1.00 0.82 1

220138_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  HAND1 for binary patterns associated with the probe-sets selected above  
About GeneDecksing
About this table    
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, O96004
Tissue specificity: Heart

(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 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
HAND11   -- heart and neural crest derivatives expressed 1 92.4(n)
97.21(a)
489164  XM_546282.2  XP_546282.2 
chimpanzee
(Pan troglodytes)
HAND11   -- heart and neural crest derivatives expressed 1 99.22(n)
99.53(a)
462209  XM_518050.2  XP_518050.2 
cow
(Bos taurus)
HAND11   -- heart and neural crest derivatives expressed 1 93.33(n)
98.14(a)
517952  NM_001075761.1  NP_001069229.1 
rat
(Rattus norvegicus)
Hand11   -- heart and neural crest derivatives expressed 1 87.91(n)
93.95(a)
59112  NM_021592.2  NP_067603.1 
mouse
(Mus musculus)
Hand11, 5 11 (32.00 cM)5
heart and neural crest derivatives expressed transcript more1, 5 86.98(n)1
92.56(a)1
151101  NM_008213.21  NP_032239.11 
 AK1460845  AL7325875  (see all 10)
About this table        Species with no ortholog for HAND1

ENSEMBL Gene Tree 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  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/17 NCBI SNPs in HAND1 are shown (see all 17 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 35)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 5 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
--
rs23514841,2
C,F153838362(+) CttttG/Catttt 1 -- ng313Minor allele frequency- C:0.13NA 116
rs9930981,2
A,C153837889(+) GGGCAA/CGGCTG 1 -- ut51 ese31Minor allele frequency- C:0.00MN 184
rs125161101,2
C153838171(+) ACTCAG/TCTCCC 1 -- ng310--------
rs18469661,2
A,C,F,H153837167(+) TGAGGC/GTGCTC 1 -- int112Minor allele frequency- N:0.01NA EA EU WA 1032
rs9245811,2
C,F,H153836082(+) TGCAGG/ACTTGG 1 -- int110Minor allele frequency- A:0.04EA NA EU WA 596
rs117487651,2
A,C153837189(+) ACCCTA/TGGCTG 1 -- int10--------
--
rs601052641,2
--153838638(+) TACCAC/GCCCGC 1 -- ng310--------
rs355427111,2
--153834907(+) AGGGAA/TAGCTT 1 -- ut310--------
--
rs131718121,2
--153837788(+) CGCCGC/TCAGCC 1 -- ut51 ese30--------
--
rs77089311,2
--153839229(+) GGGCTC/TTCCCC 1 -- ng31 tfbs30--------
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HapMap Linkage Disequilibrium images for HAND1 (up to first 250kb)

(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

(Possibly Related Articles in Doctor's Guide)
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  --

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
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10/44 PubMed articles for HAND1 gene (see all 44 ):
(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)
(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 9421 HGNC: 4807 AceView: HAND1 Ensembl:ENSG00000113196 euGenes: HUgn9421
ECgene: HAND1 H-InvDB: HAND1
(According to HUGE)
About This Section

  --
(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

  --
(Available from WIS Yeda, Salk, Tufts)
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  --
(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:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



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 Predesigned and custom siRNAs for HAND1 Antibodies for HAND1
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 "Your Favorite Gene" Pathwaysfeedback


  
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 Recombinant & Natural Proteins  

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 Recombinant Proteins
(HAND1)
 Antibodies (HAND1)
 Tagged/untagged cDNA clones
 Validated SYBR primer pairs
 Purified proteins from HEK293T cells
 Western blot validated antibodies
 shRNA in GFP-retroviral vector
 Search Tocris compounds for HAND1




 Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
 Search Novus for antibodies for HAND1

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