GDF1 growth differentiation factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GDF1provided by HGNC
Official Full Name: growth differentiation factor 1provided by HGNC
Primary source: HGNC:HGNC:4214
See related: Ensembl:ENSG00000130283 MIM:602880; AllianceGenome:HGNC:4214
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RAI; DORV; LAG1; UOG1; CERS1; CHTD6; DTGA3; LASS1
Summary: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. Studies in rodents suggest that this protein is involved in the establishment of left-right asymmetry in early embryogenesis and in neural development in later embryogenesis. The encoded protein is translated from a bicistronic mRNA that also encodes ceramide synthase 1. Mutations in this gene are associated with several congenital cardiovascular malformations. [provided by RefSeq, Jul 2016]
Expression: Biased expression in brain (RPKM 26.0) and testis (RPKM 5.5) See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.11

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (18868545..18896158, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (19004162..19031781, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (18979354..19006967, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Human colorectal cancer: upregulation of the adaptor protein Rai in TILs leads to cell dysfunction by sustaining GSK-3 activation and PD-1 expression.
Title: Human colorectal cancer: upregulation of the adaptor protein Rai in TILs leads to cell dysfunction by sustaining GSK-3 activation and PD-1 expression.
Homozygous variants in the GDF1 gene related to recurrent right isomerism and complex CHD in two Indian families.
Title: Homozygous variants in the GDF1 gene related to recurrent right isomerism and complex CHD in two Indian families.
Arsenic suppresses GDF1 expression via ROS-dependent downregulation of specificity protein 1.
Title: Arsenic suppresses GDF1 expression via ROS-dependent downregulation of specificity protein 1.
A founder truncating variant in GDF1 causes autosomal-recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds.
Title: A founder truncating variant in GDF1 causes autosomal-recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds.
Nkx2.5 acts upstream of GDF1 and the genetic variants in GDF1 promoter may confer genetic susceptibility to sporadic CHD potentially by altering its expression.
Title: Association of functional variant in GDF1 promoter with risk of congenital heart disease and its regulation by Nkx2.5.
Rare inherited and de novo variants in 2,871 congenital heart disease probands identified GDF1, MYH6, and FLT4 as causative genes.
Title: Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Our results suggest that the GDF1 rs4808863 polymorphism contributes to an increased risk of fetal CHDs, especially the subtypes of AVSD, LVOTO and left-right laterality defects.
Title: Association of GDF1 rs4808863 with fetal congenital heart defects: a case-control study.
This implies that Gdf1 potentiates Nodal activity by stabilizing a low molecular weight fraction that is susceptible to neutralization by soluble Acvr2.
Title: Nodal·Gdf1 heterodimers with bound prodomains enable serum-independent nodal signaling and endoderm differentiation.
indicate that the expression of growth/differentiation factor 1 (GDF1) is up-regulated in human dilated cardiomyopathy (DCM)hearts and murine hypertrophic hearts.
Title: Growth/differentiation factor 1 alleviates pressure overload-induced cardiac hypertrophy and dysfunction.
GDF1 may be associated with congenital heart defects risk, and these variations contribute at least in part to the development of some subtypes of conotruncal defects in the Chinese Han population.
Title: Association of growth/differentiation factor 1 gene polymorphisms with the risk of congenital heart disease in the Chinese Han population.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital heart defects, multiple types, 6 MedGen: C3151221 OMIM: 613854 GeneReviews: Not available	not available
Right atrial isomerism MedGen: C3178806 OMIM: 208530 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-14123 (e-PCR)
- UniSTS:71707

A006H36 (e-PCR)
- UniSTS:63779

D19S842E (e-PCR)
- UniSTS:153964

GDF1 (e-PCR)
- UniSTS:505739

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine activity	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in negative regulation of cardiac muscle hypertrophy	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: embryonic growth/differentiation factor 1

Names: Ceramide synthase 1; LAG1 longevity assurance homolog 1; Longevity assurance gene 1 protein homolog 1; Protein UOG-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012070.1 RefSeqGene

Range

4987..32600

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001387438.1 → NP_001374367.1 embryonic growth/differentiation factor 1 precursor

Status: REVIEWED

Source sequence(s)

AC003972, AC005197

Consensus CDS

CCDS42526.1

UniProtKB/Swiss-Prot

O43344, P27539

Conserved Domains (1) summary

cd13764
Location:267 → 372

TGF_beta_GDF1_3_like; transforming growth factor beta (TGF-beta) like domain found in embryonic growth/differentiation factor 1 (GDF1), factor 3 (GDF3) and similar proteins
NM_001492.6 → NP_001483.3 embryonic growth/differentiation factor 1 precursor

See identical proteins and their annotated locations for NP_001483.3

Status: REVIEWED

Source sequence(s)

AC003972, AC005197, M62302

Consensus CDS

CCDS42526.1

UniProtKB/Swiss-Prot

O43344, P27539

Related

ENSP00000247005.5, ENST00000247005.8

Conserved Domains (1) summary

cd13764
Location:267 → 372

TGF_beta_GDF1_3_like; transforming growth factor beta (TGF-beta) like domain found in embryonic growth/differentiation factor 1 (GDF1), factor 3 (GDF3) and similar proteins