Tag | Content |
---|---|
Uniprot ID | Q15797; A8KAJ0; D3DNZ9; Q16636; Q9UFT8; |
Entrez ID | 4086 |
Genbank protein ID | EAX05039.1; AAC50621.1; AAC50790.1; EAX05037.1; EAX05038.1; AAC50493.1; AAH01878.1; AAP36050.1; CAB55898.1; AAB06852.1; EAX05040.1; BAF85744.1; |
Genbank nucleotide ID | XM_011531961.1; XM_005262992.3; XM_011531964.1; XM_011531962.1; XM_011531963.1; XM_006714217.2; NM_005900.2; NM_001003688.1; |
Ensembl protein ID | ENSP00000305769; ENSP00000426568; ENSP00000377652; |
Ensembl nucleotide ID | ENSG00000170365 |
Gene name | Mothers against decapentaplegic homolog 1 |
Gene symbol | SMAD1 |
Organism | Homo sapiens |
NCBI taxa ID | 9606 |
Cleft type | |
Developmental stage | |
Data sources | Manually collected |
Reference | 14755461 |
Functional description | Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD1 is a receptor-regulated SMAD (R-SMAD). SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1. May act synergistically with SMAD4 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression. |
Sequence | MNVTSLFSFT SPAVKRLLGW KQGDEEEKWA EKAVDALVKK LKKKKGAMEE LEKALSCPGQ 60 PSNCVTIPRS LDGRLQVSHR KGLPHVIYCR VWRWPDLQSH HELKPLECCE FPFGSKQKEV 120 CINPYHYKRV ESPVLPPVLV PRHSEYNPQH SLLAQFRNLG QNEPHMPLNA TFPDSFQQPN 180 SHPFPHSPNS SYPNSPGSSS STYPHSPTSS DPGSPFQMPA DTPPPAYLPP EDPMTQDGSQ 240 PMDTNMMAPP LPSEINRGDV QAVAYEEPKH WCSIVYYELN NRVGEAFHAS STSVLVDGFT 300 DPSNNKNRFC LGLLSNVNRN STIENTRRHI GKGVHLYYVG GEVYAECLSD SSIFVQSRNC 360 NYHHGFHPTT VCKIPSGCSL KIFNNQEFAQ LLAQSVNHGF ETVYELTKMC TIRMSFVKGW 420 GAEYHRQDVT STPCWIEIHL HGPLQWLDKV LTQMGSPHNP ISSVS 465 |
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.