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

Gene ID: 2657, updated on 14-Nov-2024

Summary

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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

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See GDF1 in Genome Data Viewer
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_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10417 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18900694-18901273 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18901274-18901854 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18901855-18902433 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18905989-18906518 Neighboring gene cartilage oligomeric matrix protein Neighboring gene Sharpr-MPRA regulatory region 2922 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10418 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10419 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10420 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10421 Neighboring gene NANOG hESC enhancer GRCh37_chr19:18944963-18945515 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14332 Neighboring gene UPF1 RNA helicase and ATPase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14333 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:18960435-18960659 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10422 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10423 Neighboring gene ceramide synthase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18994867-18995367 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10424 Neighboring gene COPI coat complex subunit epsilon Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19028406-19029296 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10425 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14334 Neighboring gene DEAD-box helicase 49

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. Homozygous variants in the GDF1 gene related to recurrent right isomerism and complex CHD in two Indian families. Krishna MR, et al. Cardiol Young, 2022 Dec. PMID 35351224
  2. Arsenic suppresses GDF1 expression via ROS-dependent downregulation of specificity protein 1. Gao X, et al. Environ Pollut, 2021 Feb 15. PMID 33360347
  3. A founder truncating variant in GDF1 causes autosomal-recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds. Marek-Yagel D, et al. Am J Med Genet A, 2020 May. PMID 32144877
  4. Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. Karkera JD, et al. Am J Hum Genet, 2007 Nov. PMID 17924340, Free PMC Article
  5. Correlation of inhibitor of differentiation 1 expression to tumor progression, poor differentiation and aggressive behaviors in cervical carcinoma. Li J, et al. Gynecol Oncol, 2009 Jul. PMID 19359031

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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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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)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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

  1. NG_012070.1 RefSeqGene

    Range
    4987..32600
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    18868545..18896158 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    19004162..19031781 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P27539.2 GenPept UniProtKB/Swiss-Prot:P27539

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