| Tag | Content |
|---|---|
| Uniprot ID | O96004 |
| Entrez ID | 9421 |
| Genbank protein ID | AAH21190.1; AAD19283.1; AAD19280.1; |
| Genbank nucleotide ID | NM_004821.2 |
| Ensembl protein ID | ENSP00000231121 |
| Ensembl nucleotide ID | ENSG00000113196 |
| Gene name | Heart- and neural crest derivatives-expressed protein 1 |
| Gene symbol | HAND1 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | Transcription factor that plays an essential role in both trophoblast giant cell differentiation and in cardiac morphogenesis (By similarity). Binds the DNA sequence 5'-NRTCTG-3' (non-canonical E-box) (By similarity). Acts as a transcriptional repressor of SOX15 (By similarity). In the adult, could be required for ongoing expression of cardiac-specific genes (PubMed:9931445). |
| Sequence | MNLVGSYAHH HHHHHPHPAH PMLHEPFLFG PASRCHQERP YFQSWLLSPA DAAPDFPAGG 60 PPPAAAAAAT AYGPDARPGQ SPGRLEALGG RLGRRKGSGP KKERRRTESI NSAFAELREC 120 IPNVPADTKL SKIKTLRLAT SYIAYLMDVL AKDAQSGDPE AFKAELKKAD GGRESKRKRE 180 LQQHEGFPPA LGPVEKRIKG RTGWPQQVWA LELNQ 215 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.