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

Gene ID: 2657, updated on 11-Jun-2021

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
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
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Genomic context

See GDF1 in Genome Data Viewer
Location:
19p13.11
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (18868545..18896158, complement)
105.20201022 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 uncharacterized LOC107985321 Neighboring gene UPF1 RNA helicase and ATPase Neighboring gene ceramide synthase 1 Neighboring gene COPI coat complex subunit epsilon Neighboring gene DEAD-box helicase 49

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables growth factor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in SMAD protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of pathway-restricted SMAD protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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_001387438.1NP_001374367.1  embryonic growth/differentiation factor 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC003972, AC005197
    Conserved Domains (1) summary
    cd13764
    Location:267372
    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_001492.6NP_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
    P27539
    UniProtKB/TrEMBL
    A0A024R7N8
    Related
    ENSP00000247005.5, ENST00000247005.8
    Conserved Domains (1) summary
    cd13764
    Location:267372
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

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