embryonic growth/differentiation factor 1; GDF-1 (GDF1)

Function: - may mediate cell differentiation events during embryonic development Structure: - homodimer; disulfide-linked (putative) - belongs to the TGF-beta family Compartment: secreted Expression: expressed in the brain Pathology: - defects in GDF1 are a cause of a) conotruncal heart malformations b) tetralogy of Fallot - defects in GDF1 are the cause of transposition of the great arteries dextro-looped type 3 Genetics: - protein is produced by a bicistronic gene which also produces the LASS1 protein from a non-overlapping reading frame

General

cytokine glycoprotein

Properties

SIZE: entity length = 372 aa MW = 39 kD COMPARTMENT: extracellular compartment MOTIF: signal sequence {1-29} alanine-rich region {152-158} MOTIF: alanine residue (SEVERAL) N-glycosylation site {N206} cysteine residue {C267} MODIFICATION: cysteine residue {C337} cysteine residue {C296} MODIFICATION: cysteine residue {C369} cysteine residue {C300} MODIFICATION: cysteine residue {C371} cysteine residue {C336} MODIFICATION: cysteine residue {C-INTERCHAIN} cysteine residue {C337} MODIFICATION: cysteine residue {C267} cysteine residue {C369} MODIFICATION: cysteine residue {C296} cysteine residue {C371} MODIFICATION: cysteine residue {C300}

Database Correlations

OMIM correlations MORBIDMAP 602880 UniProt P27539 PFAM correlations Entrez Gene 2657 Kegg hsa:2657