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FLASH GENE

Symbol

GDF1

contributors: mct - updated : 02-11-2014

HGNC name	growth differentiation factor 1
HGNC id	4214

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CTHMG conotruncal heart malformations RAI right atrial isomerism
Location	19p13.11      Physical location : 18.979.360 - 19.006.953
Synonym name	embryonic growth/differentiation factor 1

DNA

TYPE	functioning gene
STRUCTURE	27.59 kb     8 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

regionally located

downstream ORF of a bicistronic transcript which also includes the LASS1 gene (see symbol)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_198207 8 - 2558 NP_001483 - 372 - 1996 8833148

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain forebrain cerebral cortex   specific   spinal cord         Skin/Tegument skin       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central     specific Nervous peripherous

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	node lateral plate mesoderm in mice

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

TGF beta like domain

mono polymer

homomer , dimer

isoforms

Precursor

cleaved at a consensus Arg-X-XArg to yield a C terminus mature protein containing seven conserved cysteine residues

HOMOLOGY

interspecies

ortholog to Xenopus Vg1

Homologene

FAMILY	BMP family
	transforming growth factor-beta superfamily

CATEGORY

signaling growth factor

SUBCELLULAR LOCALIZATION	extracellular
text	secreted

basic FUNCTION	regulator of cell growth and differentiation
	functions as a coligand for NODAL, and regulates the activity and signaling range of NODAL through direct interaction
	functional complementarity between GDF1 and GDF3 during embryonic development
	participates in early embryo patterning
	may be essential for the asymmetric gene expression in the left lateral plate mesoderm by acting in a synergetic manner with NODAL

CELLULAR PROCESS	cell life, differentiation
	cell life, proliferation/growth

PHYSIOLOGICAL PROCESS

development

text	left-right (L/R) asymetry

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacts with NODAL and thereby greatly increases its specific activity
	interacting with CRIPTO (CRIPTO acts as an obligate coreceptor for transforming growth factor beta (TGF-beta) ligands, including nodals, growth and differentiation factor 1 (GDF1), and GDF3)
	during development, NODAL depends on growth and differentiation factor GDF1 and on the shared co-receptor CFC1 to specify visceral left-right axis asymmetry
	NODAL·GDF1 heterodimers with bound prodomains enable serum-independent nodal signaling and endoderm differentiation
	PITX2 is essential for axis formation, and it acts as a direct regulator of GDF1 expression by binding to enhancers within neighbouring genes

cell & other

REGULATION

activated by

cleaved by subtilisin-like convertases

ASSOCIATED DISORDERS

corresponding disease(s)

CTHMG , RAI

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Gdf-/- mice lack a left-sided expression of NODAL, lefty2, Pitx2, have randomized situs and right pulmonary isomerism