| Tag | Content |
|---|---|
| Uniprot ID | Q64279; Q61099; |
| Entrez ID | 15110 |
| Genbank protein ID | AAB35104.1; AAA86887.1; AAA86273.1; |
| Genbank nucleotide ID | NM_008213.2 |
| Ensembl protein ID | ENSMUSP00000046999; ENSMUSP00000124951; |
| Ensembl nucleotide ID | ENSMUSG00000037335 |
| Gene name | Heart- and neural crest derivatives-expressed protein 1 |
| Gene symbol | Hand1 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 25053435 |
| Functional description | Transcription factor that plays an essential role in both trophoblast giant cell differentiation and in cardiac morphogenesis (PubMed:9500551, PubMed:16759287). Binds the DNA sequence 5'-NRTCTG-3' (non-canonical E-box) (PubMed:7791788). Acts as a transcriptional repressor of SOX15 (PubMed:16759287). In the adult, could be required for ongoing expression of cardiac-specific genes (By similarity). |
| Sequence | MNLVGSYAHH HHHHHSHPPH PMLHEPFLFG PASRCHQERP YFQSWLLSPA DAAPDFPAGG 60 PPPTTAVAAA AYGPDARPSQ SPGRLEALGS RLPKRKGSGP KKERRRTESI NSAFAELREC 120 IPNVPADTKL SKIKTLRLAT SYIAYLMDVL AKDAQAGDPE AFKAELKKTD GGRESKRKRE 180 LPQQPESFPP ASGPGEKRIK GRTGWPQQVW ALELNQ 216 |
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.
