Gene: SMAD4

Basic information

Tag Content
Uniprot ID G1SKR1
Entrez ID 100342294
Genbank protein ID
Genbank nucleotide ID XM_002713541.3
Ensembl protein ID ENSOCUP00000003411
Ensembl nucleotide ID ENSOCUG00000003929
Gene name Mothers against decapentaplegic homolog
Gene symbol SMAD4
Organism Oryctolagus cuniculus
NCBI taxa ID 9986
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description
Sequence
MDNMSITNTP TSNDACLSIV HSLMCHRQGG ESETFAKRAI ESLVKKLKEK KDELDSLITA 60
ITTNGAHPSK CVTIQRTLDG RLQVAGRKGF PHVIYARLWR WPDLHKNELK HVKYCQYAFD 120
LKCDSVCVNP YHYERVVSPG IDLSGLTLQS NAPPSMLVKD EYVHDFEGQP SLSTEGHSIQ 180
TIQHPPSNRG STETYSTPAL LAPSESNAAG TTNFPNIPVA STSQPASILA GSHSEGLLQI 240
ASGPQPGQQQ NGFTGQPATY HHNSTTTWTG SRTAPYTPNL PHHQNGHLQH HPPMPPHPGH 300
YWPVHNELAF QPPISNHPAP EYWCSIAYFE MDVQVGETFK VPSSCPIVTV DGYVDPSGGD 360
RFCLGQLSNV HRTEAIERAR LHIGKGVQLE CKGEGDVWVR CLSDHAVFVQ SYYLDREAGR 420
APGDAVHKIY PSAYIKVFDL RQCHRQMQQQ AATAQAAAAA QAAAVAGNIP GPGSVGGIAP 480
AISLSAAAGI GVDDLRRLCI LRMSFVKGWG PDYPRQSIKE TPCWIEIHLH RALQLLDEVL 540
HTMPIADPQP LD 552

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 orthologSMAD4540248B0JYL0Bos taurusPredictionMore>>
1:1 orthologSMAD4A0A5F4CED2Canis lupus familiarisPredictionMore>>
1:1 orthologSMAD4A0A452F8L3Capra hircusPredictionMore>>
1:1 orthologSMAD4A0A3Q2GWH9Equus caballusPredictionMore>>
1:1 orthologSMAD44089Q13485Homo sapiensPredictionMore>>
1:1 orthologSmad417128P97471CPOE12.5, E13.5, E14.5Mus musculusPublicationMore>>
1:1 orthologSMAD4A0A2I3S6S5Pan troglodytesPredictionMore>>
1:1 orthologA0A4X1UID5Sus scrofaPredictionMore>>
1:1 orthologSMAD4100342294G1SKR1Oryctolagus cuniculusPredictionMore>>
1:1 orthologSmad4A0A0G2K970Rattus norvegicusPredictionMore>>

Gene ontology

GO ID GO Term
GO:0032444 activin responsive factor complex
GO:0005623 cell
GO:0005813 centrosome
GO:0005829 cytosol
GO:0000790 nuclear chromatin
GO:0005654 nucleoplasm
GO:0071141 SMAD protein complex
GO:0003682 chromatin binding
GO:0005518 collagen binding
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0070411 I-SMAD binding
GO:0098772 molecular function regulator
GO:0042803 protein homodimerization activity
GO:0070412 R-SMAD binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0001085 RNA polymerase II transcription factor binding
GO:0043199 sulfate binding
GO:0001223 transcription coactivator binding
GO:0003712 transcription coregulator activity
GO:0030616 transforming growth factor beta receptor, common-partner cytoplasmic mediator activity
GO:0036302 atrioventricular canal development
GO:0003190 atrioventricular valve formation
GO:0007411 axon guidance
GO:0030509 BMP signaling pathway
GO:0003360 brainstem development
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0008283 cell population proliferation
GO:0006879 cellular iron ion homeostasis
GO:0048589 developmental growth
GO:0042733 embryonic digit morphogenesis
GO:0060956 endocardial cell differentiation
GO:0042118 endothelial cell activation
GO:0003198 epithelial to mesenchymal transition involved in endocardial cushion formation
GO:0061040 female gonad morphogenesis
GO:0048859 formation of anatomical boundary
GO:0001702 gastrulation with mouth forming second
GO:0001701 in utero embryonic development
GO:0070102 interleukin-6-mediated signaling pathway
GO:0035556 intracellular signal transduction
GO:0003220 left ventricular cardiac muscle tissue morphogenesis
GO:0048382 mesendoderm development
GO:0072133 metanephric mesenchyme morphogenesis
GO:0010614 negative regulation of cardiac muscle hypertrophy
GO:1905305 negative regulation of cardiac myofibril assembly
GO:0060548 negative regulation of cell death
GO:0030308 negative regulation of cell growth
GO:0008285 negative regulation of cell population proliferation
GO:0070373 negative regulation of ERK1 and ERK2 cascade
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0072134 nephrogenic mesenchyme morphogenesis
GO:0014033 neural crest cell differentiation
GO:0048663 neuron fate commitment
GO:0003148 outflow tract septum morphogenesis
GO:0001541 ovarian follicle development
GO:0030513 positive regulation of BMP signaling pathway
GO:0003251 positive regulation of cell proliferation involved in heart valve morphogenesis
GO:0010718 positive regulation of epithelial to mesenchymal transition
GO:0046881 positive regulation of follicle-stimulating hormone secretion
GO:0051571 positive regulation of histone H3-K4 methylation
GO:2000617 positive regulation of histone H3-K9 acetylation
GO:0033686 positive regulation of luteinizing hormone secretion
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0060391 positive regulation of SMAD protein signal transduction
GO:0030511 positive regulation of transforming growth factor beta receptor signaling pathway
GO:0061614 pri-miRNA transcription by RNA polymerase II
GO:0051098 regulation of binding
GO:0051797 regulation of hair follicle development
GO:0032909 regulation of transforming growth factor beta2 production
GO:0001666 response to hypoxia
GO:0048733 sebaceous gland development
GO:0062009 secondary palate development
GO:0072520 seminiferous tubule development
GO:0007338 single fertilization
GO:0007183 SMAD protein complex assembly
GO:0060395 SMAD protein signal transduction
GO:0032525 somite rostral/caudal axis specification
GO:0007283 spermatogenesis
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0060065 uterus development
GO:0060412 ventricular septum morphogenesis

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0175 Coiled coil
KW-0963 Cytoplasm
KW-0238 DNA-binding
KW-0539 Nucleus
KW-1185 Reference proteome
KW-0804 Transcription
KW-0805 Transcription regulation

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