Gene: Gdf1

Basic information

Tag Content
Uniprot ID P20863; Q6AXH1;
Entrez ID 14559
Genbank protein ID AAH79555.1; AAA37676.1; AAA37674.1;
Genbank nucleotide ID NM_001163282.2; NM_008107.4;
Ensembl protein ID ENSMUSP00000128325; ENSMUSP00000146749;
Ensembl nucleotide ID ENSMUSG00000087408; ENSMUSG00000109523;
Gene name Embryonic growth/differentiation factor 1
Gene symbol Gdf1
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CLO
Developmental stage
Data sources Manually collected
Reference 16564040
Functional description May mediate cell differentiation events during embryonic development.
Sequence
MLPVCHRFCD HLLLLLLLPS TTLAPAPASM GPAAALLQVL GLPEAPRSVP THRPVPPVMW 60
RLFRRRDPQE ARVGRPLRPC HVEELGVAGN IVRHIPDSGL SSRPAQPART SGLCPEWTVV 120
FDLSNVEPTE RPTRARLELR LEAESEDTGG WELSVALWAD AEHPGPELLR VPAPPGVLLR 180
ADLLGTAVAA NASVPCTVRL ALSLHPGATA ACGRLAEASL LLVTLDPRLC PLPRLRRHTE 240
PRVEVGPVGT CRTRRLHVSF REVGWHRWVI APRGFLANFC QGTCALPETL RGPGGPPALN 300
HAVLRALMHA AAPTPGAGSP CCVPERLSPI SVLFFDNSDN VVLRHYEDMV VDECGCR 357

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

There is no orthologous record for this gene !

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:0008083 growth factor activityIEA

GO:Biological Process

GO ID GO Term Evidence
GO:0001701 in utero embryonic developmentIMP
GO:0007165 signal transductionIGI
GO:0007165 signal transductionIMP
GO:0007492 endoderm developmentIGI
GO:0007498 mesoderm developmentIGI
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylationIBA
GO:0030509 BMP signaling pathwayIBA
GO:0060395 SMAD protein signal transductionIBA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005576 extracellular regionTAS
GO:0005615 extracellular spaceIBA

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-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
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

Protein-miRNA interaction