Gene: SMAD1

Basic information

Tag Content
Uniprot ID Q1JQA2; Q06AL6;
Entrez ID 540488
Genbank protein ID ABI96185.1; AAI16118.1;
Genbank nucleotide ID NM_001076223.2; XM_010813715.2; XM_005217509.2; XM_010813716.2; XM_005217511.2;
Ensembl protein ID ENSBTAP00000003668; ENSBTAP00000057918; ENSBTAP00000067920; ENSBTAP00000074456;
Ensembl nucleotide ID ENSBTAG00000002835
Gene name Mothers against decapentaplegic homolog 1
Gene symbol SMAD1
Organism Bos taurus
NCBI taxa ID 9913
Cleft type
Developmental stage
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). 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
PMDTNMMAPS 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.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologSMAD1540488Q1JQA2Bos taurusPredictionMore>>
1:1 orthologSMAD1475456E2QZF1Canis lupus familiarisPredictionMore>>
1:1 orthologSMAD1A0A452E7S9Capra hircusPredictionMore>>
1:1 orthologSMAD1100033850F6W0G0Equus caballusPredictionMore>>
1:1 orthologSMAD14086Q15797Homo sapiensPublicationMore>>
1:1 orthologSmad117125P70340E13.5, E14.5Mus musculusPredictionMore>>
1:1 orthologSMAD1H2QQ88Pan troglodytesPredictionMore>>
1:1 orthologSMAD1397016Q864V7Sus scrofaPredictionMore>>
1:1 orthologSMAD1100341544A0A5F9CKV6Oryctolagus cuniculusPredictionMore>>
1:1 orthologSmad1A0A0G2JSQ6Rattus norvegicusPredictionMore>>

Gene ontology

GO ID GO Term
GO:0005737 cytoplasm
GO:0005637 nuclear inner membrane
GO:0005667 transcription factor complex
GO:0070410 co-SMAD binding
GO:0017151 DEAD/H-box RNA helicase binding
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0070411 I-SMAD binding
GO:0042802 identical protein binding
GO:0046872 metal ion binding
GO:0070878 primary miRNA binding
GO:0019901 protein kinase binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0030509 BMP signaling pathway
GO:0060348 bone development
GO:0060038 cardiac muscle cell proliferation
GO:0051216 cartilage development
GO:0071407 cellular response to organic cyclic compound
GO:0007276 gamete generation
GO:0030902 hindbrain development
GO:0042592 homeostatic process
GO:0006954 inflammatory response
GO:0000165 MAPK cascade
GO:0001710 mesodermal cell fate commitment
GO:0030901 midbrain development
GO:0008285 negative regulation of cell population proliferation
GO:0002051 osteoblast fate commitment
GO:0061036 positive regulation of cartilage development
GO:0045669 positive regulation of osteoblast differentiation
GO:1902895 positive regulation of pri-miRNA transcription by RNA polymerase II
GO:1903672 positive regulation of sprouting angiogenesis
GO:1901522 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus
GO:0007183 SMAD protein complex assembly
GO:0060395 SMAD protein signal transduction
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0001657 ureteric bud development

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0007 Acetylation
KW-0963 Cytoplasm
KW-0238 DNA-binding
KW-0479 Metal-binding
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0804 Transcription
KW-0805 Transcription regulation
KW-0832 Ubl conjugation
KW-0862 Zinc

Interpro

InterPro ID InterPro Term
IPR013790 Dwarfin
IPR003619 MAD_homology1_Dwarfin-type
IPR013019 MAD_homology_MH1
IPR017855 SMAD-like_dom_sf
IPR001132 SMAD_dom_Dwarfin-type
IPR008984 SMAD_FHA_dom_sf
IPR036578 SMAD_MH1_sf

PROSITE

PROSITE ID PROSITE Term
PS51075 MH1
PS51076 MH2

Pfam

Pfam ID Pfam Term
PF03165 MH1
PF03166 MH2