HAND1

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Heart and neural crest derivatives expressed 1
Identifiers
Symbols HAND1 ; Hxt; Thing1; bHLHa27; eHand
External IDs OMIM602406 MGI103577 HomoloGene3545 GeneCards: HAND1 Gene
RNA expression pattern
PBB GE HAND1 220138 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 9421 15110
Ensembl ENSG00000113196 ENSMUSG00000037335
UniProt O96004 Q64279
RefSeq (mRNA) NM_004821 NM_008213
RefSeq (protein) NP_004812 NP_032239
Location (UCSC) Chr 5:
154.47 – 154.48 Mb
Chr 11:
57.83 – 57.83 Mb
PubMed search [1] [2]

Heart- and neural crest derivatives-expressed protein 1 is a protein that in humans is encoded by the HAND1 gene.[1][2][3]

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 are expressed within the developing ventricular chambers, cardiac neural crest, endocardium (HAND2 only) and epicardium (HAND2 only) . HAND1 is expressed with myocardium of the primary heart field and plays an essential but poorly understood role in cardiac morphogenesis. HAND factors function in the formation of the right ventricle, left ventricle, aortic arch arteries, epicardium, and endocardium implicating them as mediators of congenital heart disease. In addition, HAND1 is uniquely expressed in trophoblasts and is essential for early trophoblast differentiation.[3]

References[edit]

  1. ^ Russell MW, Baker P, Izumo S (Jan 1998). "Cloning, chromosomal mapping, and expression of the human eHAND gene". Mamm Genome 8 (11): 863–5. doi:10.1007/s003359900596. PMID 9337404. 
  2. ^ Knofler M, Meinhardt G, Vasicek R, Husslein P, Egarter C (Feb 1999). "Molecular cloning of the human Hand1 gene/cDNA and its tissue-restricted expression in cytotrophoblastic cells and heart". Gene 224 (1–2): 77–86. doi:10.1016/S0378-1119(98)00511-3. PMID 9931445. 
  3. ^ a b "Entrez Gene: HAND1 heart and neural crest derivatives expressed 1". 

Further reading[edit]

External links[edit]


This article incorporates text from the United States National Library of Medicine, which is in the public domain.