ENSG00000113196


Homo sapiens

Features
Gene ID: ENSG00000113196
  
Biological name :HAND1
  
Synonyms : HAND1 / heart and neural crest derivatives expressed 1 / O96004
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: -1
Band: q33.2
Gene start: 154474972
Gene end: 154478264
  
Corresponding Affymetrix probe sets: 220138_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000231121
NCBI entrez gene - 9421     See in Manteia.
OMIM - 602406
RefSeq - NM_004821
RefSeq - XM_005268531
RefSeq Peptide - NP_004812
swissprot - O96004
Ensembl - ENSG00000113196
  

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 HAND1ENSGALG00000035104Gallus gallus
 Hand1ENSMUSG00000037335Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HAND2 / P61296 / heart and neural crest derivatives expressed 2ENSG0000016410755
SCX / Q7RTU7 / scleraxis bHLH transcription factorENSG0000026042822
LYL1 / P12980 / LYL1, basic helix-loop-helix family memberENSG0000010490321
TCF15 / Q12870 / transcription factor 15ENSG0000012587821
TAL1 / P17542 / TAL bHLH transcription factor 1, erythroid differentiation factorENSG0000016236720
Q15672 / TWIST1 / twist family bHLH transcription factor 1ENSG0000012269120
Q8WVJ9 / TWIST2 / twist family bHLH transcription factor 2ENSG0000023360817
NHLH2 / Q02577 / nescient helix-loop-helix 2ENSG0000017755116
NHLH1 / Q02575 / nescient helix-loop-helix 1ENSG0000017178616
TAL2 / Q16559 / TAL bHLH transcription factor 2ENSG0000018605114


Protein motifs (from Interpro)
Interpro ID Name
 IPR011598  Myc-type, basic helix-loop-helix (bHLH) domain
 IPR036638  Helix-loop-helix DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0001525 angiogenesis IEA
 biological_processGO:0001701 in utero embryonic development IEA
 biological_processGO:0001707 mesoderm formation IEA
 biological_processGO:0001824 blastocyst development IEP
 biological_processGO:0001829 trophectodermal cell differentiation IEP
 biological_processGO:0001947 heart looping IEA
 biological_processGO:0003144 embryonic heart tube formation IEA
 biological_processGO:0003218 cardiac left ventricle formation IMP
 biological_processGO:0003219 cardiac right ventricle formation IMP
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II IDA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007507 heart development IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0035050 embryonic heart tube development IEA
 biological_processGO:0042475 odontogenesis of dentin-containing tooth IEA
 biological_processGO:0043433 negative regulation of DNA-binding transcription factor activity IEA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IDA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0055010 ventricular cardiac muscle tissue morphogenesis IEA
 biological_processGO:0060411 cardiac septum morphogenesis IMP
 biological_processGO:0060485 mesenchyme development IEA
 biological_processGO:0060536 cartilage morphogenesis IEA
 biological_processGO:0060707 trophoblast giant cell differentiation IEA
 biological_processGO:0061371 determination of heart left/right asymmetry IEA
 biological_processGO:1903026 negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding IDA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0090575 RNA polymerase II transcription factor complex IDA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003713 transcription coactivator activity IEA
 molecular_functionGO:0003714 transcription corepressor activity IC
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008134 transcription factor binding IEA
 molecular_functionGO:0019899 enzyme binding IEA
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0043425 bHLH transcription factor binding IEA
 molecular_functionGO:0043565 sequence-specific DNA binding IEA
 molecular_functionGO:0044212 transcription regulatory region DNA binding IDA
 molecular_functionGO:0046982 protein heterodimerization activity IEA
 molecular_functionGO:0046983 protein dimerization activity IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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