Gene: Gdf11

Basic information

Tag Content
Uniprot ID Q9Z1W4; Q9QX55; Q9R221;
Entrez ID 14561
Genbank protein ID AAF21633.1; AAC72853.1; AAD05267.1;
Genbank nucleotide ID NM_010272.2
Ensembl protein ID ENSMUSP00000026408
Ensembl nucleotide ID ENSMUSG00000025352
Gene name Growth/differentiation factor 11
Gene symbol Gdf11
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 19298661; 24019467; 10391213;
Functional description Secreted signal that acts globally to specify positional identity along the anterior/posterior axis during development (PubMed:10391213). May play critical roles in patterning both mesodermal and neural tissues and in establishing the skeletal pattern. Signals through activin receptors type-2, ACVR2A and ACVR2B, and activin receptors type-1, ACVR1B, ACVR1C and TGFBR1 leading to the phosphorylation of SMAD2 and SMAD3 (PubMed:16845371, PubMed:12414726).
Sequence
MVLAAPLLLG FLLLALELRP RGEAAEGPAA AAAAAAAAAG VGGERSSRPA PSAPPEPDGC 60
PVCVWRQHSR ELRLESIKSQ ILSKLRLKEA PNISREVVKQ LLPKAPPLQQ ILDLHDFQGD 120
ALQPEDFLEE DEYHATTETV ISMAQETDPA VQTDGSPLCC HFHFSPKVMF TKVLKAQLWV 180
YLRPVPRPAT VYLQILRLKP LTGEGTAGGG GGGRRHIRIR SLKIELHSRS GHWQSIDFKQ 240
VLHSWFRQPQ SNWGIEINAF DPSGTDLAVT SLGPGAEGLH PFMELRVLEN TKRSRRNLGL 300
DCDEHSSESR CCRYPLTVDF EAFGWDWIIA PKRYKANYCS GQCEYMFMQK YPHTHLVQQA 360
NPRGSAGPCC TPTKMSPINM LYFNDKQQII YGKIPGMVVD RCGCS 405

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 structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologGDF11J9NYK9Canis lupus familiarisPredictionMore>>
1:1 orthologGDF11102178704A0A452DM24Capra hircusPredictionMore>>
1:1 orthologGDF1110220O95390Homo sapiensPredictionMore>>
1:1 orthologGdf1114561Q9Z1W4CPOMus musculusPublicationMore>>
1:1 orthologGDF11451970H2Q663Pan troglodytesPredictionMore>>
1:1 orthologGDF11F1SPJ6Sus scrofaPredictionMore>>
1:1 orthologGdf1129454Q9Z217Rattus norvegicusPredictionMore>>
1:1 orthologgdf11406247Q8JFP9Danio rerioPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005125 cytokine activityIBA
GO:0005515 protein bindingIPI
GO:0008083 growth factor activityIEA

GO:Biological Process

GO ID GO Term Evidence
GO:0001501 skeletal system developmentIGI
GO:0001656 metanephros developmentIDA
GO:0001657 ureteric bud developmentIMP
GO:0008285 negative regulation of cell population proliferationIMP
GO:0009887 animal organ morphogenesisIMP
GO:0009952 anterior/posterior pattern specificationIMP
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylationIBA
GO:0021512 spinal cord anterior/posterior patterningIMP
GO:0031016 pancreas developmentIMP
GO:0045596 negative regulation of cell differentiationIDA
GO:0045665 negative regulation of neuron differentiationISO
GO:0048469 cell maturationIMP
GO:0048593 camera-type eye morphogenesisIMP
GO:0060021 roof of mouth developmentIGI
GO:0060395 SMAD protein signal transductionISS
GO:0060395 SMAD protein signal transductionISO
GO:0060395 SMAD protein signal transductionIDA
GO:0060395 SMAD protein signal transductionIBA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005615 extracellular spaceIDA
GO:0005615 extracellular spaceIBA
GO:0005654 nucleoplasmISO
GO:0032991 protein-containing complexISO
GO:0043231 intracellular membrane-bounded organelleISO

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0165 Cleavage on pair of basic residues
KW-0202 Cytokine
KW-0903 Direct protein sequencing
KW-1015 Disulfide bond
KW-0325 Glycoprotein
KW-0339 Growth factor
KW-1185 Reference proteome
KW-0964 Secreted
KW-0732 Signal

Interpro

InterPro ID InterPro Term
IPR029034 Cystine-knot_cytokine
IPR001839 TGF-b_C
IPR001111 TGF-b_propeptide
IPR015615 TGF-beta-rel
IPR017948 TGFb_CS

PROSITE

PROSITE ID PROSITE Term
PS00250 TGF_BETA_1
PS51362 TGF_BETA_2

Pfam

Pfam ID Pfam Term
PF00019 TGF_beta
PF00688 TGFb_propeptide

Protein-protein interaction

Protein-miRNA interaction