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

    Gene ID: 2657, updated on 5-Aug-2022

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See GDF1 in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (18868545..18896158, complement)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (19004162..19031781, complement)
    105.20220307 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 cartilage oligomeric matrix protein 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)

    NEW Try the new Transcript table

    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
      UniProtKB/Swiss-Prot
      O43344
      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
      O43344, 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 Annotation Release 110 details...Open this link in a new tab

    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)