| Tag | Content |
|---|---|
| Uniprot ID | P70340; P70442; Q6GT95; Q9CYK6; |
| Entrez ID | 17125 |
| Genbank protein ID | AAB18256.1; AAG41407.1; BAB30820.1; BAC35658.1; AAH58693.1; AAC52785.1; |
| Genbank nucleotide ID | XM_006530746.3; NM_008539.3; |
| Ensembl protein ID | ENSMUSP00000071035 |
| Ensembl nucleotide ID | ENSMUSG00000031681 |
| Gene name | Mothers against decapentaplegic homolog 1 |
| Gene symbol | Smad1 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | |
| Developmental stage | E13.5, E14.5 |
| Data sources | Homology search |
| Reference | |
| Functional description | Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD1 is a receptor-regulated SMAD (R-SMAD) (By similarity). May play a role in the initiation and maintenance of spermatogenesis. SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1 (By similarity). May act synergistically with SMAD4 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression (PubMed:15329343). |
| Sequence | MNVTSLFSFT SPAVKRLLGW KQGDEEEKWA EKAVDALVKK LKKKKGAMEE LEKALSCPGQ 60 PSNCVTIPRS LDGRLQVSHR KGLPHVIYCR VWRWPDLQSH HELKPLECCE FPFGSKQKEV 120 CINPYHYKRV ESPVLPPVLV PRHSEYNPQH SLLAQFRNLG QNEPHMPLNA TFPDSFQQPN 180 SHPFPHSPNS SYPNSPGGSS STYPHSPTSS DPGSPFQMPA DTPPPAYLPP EDPMAQDGSQ 240 PMDTNMMAPP LPAEISRGDV 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.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | SMAD1 | 540488 | Q1JQA2 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | SMAD1 | 475456 | E2QZF1 | Canis lupus familiaris | Prediction | More>> | ||
| 1:1 ortholog | SMAD1 | A0A452E7S9 | Capra hircus | Prediction | More>> | |||
| 1:1 ortholog | SMAD1 | 100033850 | F6W0G0 | Equus caballus | Prediction | More>> | ||
| 1:1 ortholog | SMAD1 | 4086 | Q15797 | Homo sapiens | Publication | More>> | ||
| 1:1 ortholog | Smad1 | 17125 | P70340 | E13.5, E14.5 | Mus musculus | Prediction | More>> | |
| 1:1 ortholog | SMAD1 | H2QQ88 | Pan troglodytes | Prediction | More>> | |||
| 1:1 ortholog | SMAD1 | 397016 | Q864V7 | Sus scrofa | Prediction | More>> | ||
| 1:1 ortholog | SMAD1 | 100341544 | A0A5F9CKV6 | Oryctolagus cuniculus | Prediction | More>> | ||
| 1:1 ortholog | Smad1 | A0A0G2JSQ6 | Rattus norvegicus | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000978 | RNA polymerase II cis-regulatory region sequence-specific DNA binding | ISO |
| GO:0000978 | RNA polymerase II cis-regulatory region sequence-specific DNA binding | IDA |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | ISO |
| GO:0003700 | DNA-binding transcription factor activity | ISO |
| GO:0003700 | DNA-binding transcription factor activity | IDA |
| GO:0005515 | protein binding | IPI |
| GO:0017151 | DEAD/H-box RNA helicase binding | ISO |
| GO:0019901 | protein kinase binding | ISO |
| GO:0042802 | identical protein binding | ISO |
| GO:0042802 | identical protein binding | IPI |
| GO:0043565 | sequence-specific DNA binding | IDA |
| GO:0046872 | metal ion binding | IEA |
| GO:0070410 | co-SMAD binding | ISO |
| GO:0070411 | I-SMAD binding | ISO |
| GO:0070878 | primary miRNA binding | ISO |
| GO:0070878 | primary miRNA binding | IDA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000165 | MAPK cascade | ISO |
| GO:0000165 | MAPK cascade | IMP |
| GO:0001657 | ureteric bud development | IEP |
| GO:0001710 | mesodermal cell fate commitment | IGI |
| GO:0002051 | osteoblast fate commitment | IGI |
| GO:0006357 | regulation of transcription by RNA polymerase II | IDA |
| GO:0006468 | protein phosphorylation | IDA |
| GO:0006954 | inflammatory response | IEP |
| GO:0007179 | transforming growth factor beta receptor signaling pathway | IEA |
| GO:0007183 | SMAD protein complex assembly | ISO |
| GO:0007276 | gamete generation | IMP |
| GO:0008285 | negative regulation of cell population proliferation | IMP |
| GO:0009880 | embryonic pattern specification | ISS |
| GO:0010628 | positive regulation of gene expression | ISO |
| GO:0010628 | positive regulation of gene expression | IMP |
| GO:0030509 | BMP signaling pathway | ISS |
| GO:0030509 | BMP signaling pathway | ISO |
| GO:0030509 | BMP signaling pathway | TAS |
| GO:0030509 | BMP signaling pathway | IMP |
| GO:0030509 | BMP signaling pathway | IGI |
| GO:0030509 | BMP signaling pathway | IDA |
| GO:0030901 | midbrain development | IMP |
| GO:0030902 | hindbrain development | IMP |
| GO:0042493 | response to drug | ISO |
| GO:0042592 | homeostatic process | IMP |
| GO:0045597 | positive regulation of cell differentiation | ISO |
| GO:0045669 | positive regulation of osteoblast differentiation | IGI |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | ISO |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IDA |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IGI |
| GO:0051216 | cartilage development | IGI |
| GO:0060038 | cardiac muscle cell proliferation | IGI |
| GO:0060038 | cardiac muscle cell proliferation | IMP |
| GO:0060348 | bone development | IGI |
| GO:0060395 | SMAD protein signal transduction | IGI |
| GO:0061036 | positive regulation of cartilage development | IDA |
| GO:0071407 | cellular response to organic cyclic compound | IDA |
| GO:0071773 | cellular response to BMP stimulus | IGI |
| GO:1901522 | positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus | IGI |
| GO:1902895 | positive regulation of pri-miRNA transcription by RNA polymerase II | IMP |
| GO:1903672 | positive regulation of sprouting angiogenesis | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | ISO |
| GO:0005634 | nucleus | IDA |
| GO:0005637 | nuclear inner membrane | ISO |
| GO:0005667 | transcription factor complex | IDA |
| GO:0005737 | cytoplasm | ISO |
| GO:0005737 | cytoplasm | IDA |
| GO:0032991 | protein-containing complex | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-162582 | Signal Transduction | IEA |
| R-MMU-201451 | Signaling by BMP | IEA |
| R-MMU-212436 | Generic Transcription Pathway | IEA |
| R-MMU-392499 | Metabolism of proteins | IEA |
| R-MMU-5688426 | Deubiquitination | IEA |
| R-MMU-5689880 | Ub-specific processing proteases | IEA |
| R-MMU-597592 | Post-translational protein modification | IEA |
| R-MMU-73857 | RNA Polymerase II Transcription | IEA |
| R-MMU-74160 | Gene expression (Transcription) | IEA |
| R-MMU-8878166 | Transcriptional regulation by RUNX2 | IEA |
| R-MMU-8941326 | RUNX2 regulates bone development | IEA |
| R-MMU-9006936 | Signaling by TGF-beta family members | IEA |