| 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.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | HAND1 | 517952 | Q0VCE2 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | HAND1 | 489164 | E2RPA0 | Canis lupus familiaris | Prediction | More>> | ||
| 1:1 ortholog | HAND1 | 102172808 | A0A452DNX2 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | HAND1 | 9421 | O96004 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Hand1 | 15110 | Q64279 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | HAND1 | 462209 | H2QRV2 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | HAND1 | A0A287ACN5 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | HAND1 | 100009575 | G1T0L8 | Oryctolagus cuniculus | Prediction | More>> | ||
| 1:1 ortholog | Hand1 | 59112 | P97832 | Rattus norvegicus | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000978 | RNA polymerase II cis-regulatory region sequence-specific DNA binding | ISO |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISO |
| GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | ISO |
| GO:0003677 | DNA binding | IDA |
| GO:0003713 | transcription coactivator activity | IDA |
| GO:0005515 | protein binding | IPI |
| GO:0008134 | transcription factor binding | ISO |
| GO:0008134 | transcription factor binding | IPI |
| GO:0019899 | enzyme binding | IPI |
| GO:0042802 | identical protein binding | IPI |
| GO:0042802 | identical protein binding | IDA |
| GO:0042803 | protein homodimerization activity | IPI |
| GO:0043425 | bHLH transcription factor binding | ISO |
| GO:0043425 | bHLH transcription factor binding | IPI |
| GO:0043565 | sequence-specific DNA binding | IGI |
| GO:0044212 | transcription regulatory region DNA binding | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | ISO |
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IGI |
| GO:0001525 | angiogenesis | IMP |
| GO:0001701 | in utero embryonic development | IMP |
| GO:0001707 | mesoderm formation | IMP |
| GO:0001709 | cell fate determination | NAS |
| GO:0001829 | trophectodermal cell differentiation | IEA |
| GO:0001947 | heart looping | IMP |
| GO:0003007 | heart morphogenesis | TAS |
| GO:0003007 | heart morphogenesis | NAS |
| GO:0003144 | embryonic heart tube formation | IMP |
| GO:0003218 | cardiac left ventricle formation | ISO |
| GO:0003219 | cardiac right ventricle formation | ISO |
| GO:0006366 | transcription by RNA polymerase II | ISO |
| GO:0007507 | heart development | IGI |
| GO:0007507 | heart development | IMP |
| GO:0030154 | cell differentiation | IGI |
| GO:0035050 | embryonic heart tube development | IMP |
| GO:0042475 | odontogenesis of dentin-containing tooth | IGI |
| GO:0043433 | negative regulation of DNA-binding transcription factor activity | ISO |
| GO:0043433 | negative regulation of DNA-binding transcription factor activity | IDA |
| GO:0045892 | negative regulation of transcription, DNA-templated | ISO |
| GO:0045893 | positive regulation of transcription, DNA-templated | IDA |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | ISO |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IDA |
| GO:0055010 | ventricular cardiac muscle tissue morphogenesis | ISO |
| GO:0055010 | ventricular cardiac muscle tissue morphogenesis | IMP |
| GO:0060411 | cardiac septum morphogenesis | ISO |
| GO:0060485 | mesenchyme development | IGI |
| GO:0060536 | cartilage morphogenesis | IGI |
| GO:0060707 | trophoblast giant cell differentiation | IMP |
| GO:0060707 | trophoblast giant cell differentiation | IDA |
| GO:0061371 | determination of heart left/right asymmetry | IMP |
| GO:1903026 | negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | ISO |
| GO:0005634 | nucleus | IDA |
| GO:0005654 | nucleoplasm | IDA |
| GO:0005730 | nucleolus | IDA |
| GO:0005737 | cytoplasm | ISO |
| GO:0090575 | RNA polymerase II transcription factor complex | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|
| PROSITE ID | PROSITE Term |
|---|---|
| PS50888 | BHLH |
| Pfam ID | Pfam Term |
|---|---|
| PF00010 | HLH |