Seroatlas · Human Serome Atlas

GDF1

Embryonic growth/differentiation factor 1

Also known as: GDF1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P27539
Gene
GDF1
Ensembl
ENSG00000130283
Chromosome
19
Canonical length
372 aa
Protein class
Disease related genes, Human disease related genes, Predicted secreted proteins
Secretome location
Secreted to blood
Quaternary structure
Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

372 residues, UniProt reviewed canonical sequence.

>P27539|GDF1
     1  MPPPQQGPCG HHLLLLLALL LPSLPLTRAP VPPGPAAALL QALGLRDEPQ GAPRLRPVPP
    61  VMWRLFRRRD PQETRSGSRR TSPGVTLQPC HVEELGVAGN IVRHIPDRGA PTRASEPASA
   121  AGHCPEWTVV FDLSAVEPAE RPSRARLELR FAAAAAAAPE GGWELSVAQA GQGAGADPGP
   181  VLLRQLVPAL GPPVRAELLG AAWARNASWP RSLRLALALR PRAPAACARL AEASLLLVTL
   241  DPRLCHPLAR PRRDAEPVLG GGPGGACRAR RLYVSFREVG WHRWVIAPRG FLANYCQGQC
   301  ALPVALSGSG GPPALNHAVL RALMHAAAPG AADLPCCVPA RLSPISVLFF DNSDNVVLRQ
   361  YEDMVVDECG CR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GDF1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Secreted
Secreted
Yes
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.37
Highest tissue expression
42 nTPM

Expression across tissuesHPA

Tissue

  • basal ganglia: 42 nTPM
  • midbrain: 39 nTPM
  • amygdala: 38 nTPM
  • hippocampal formation: 37 nTPM
  • cerebral cortex: 36 nTPM
  • spinal cord: 34 nTPM

Single-cell type

  • adipocytes: 0 nCPM
  • adrenal cortex cells: 0 nCPM
  • adrenal medulla cells: 0 nCPM
  • alveolar cells type 1: 0 nCPM
  • alveolar cells type 2: 0 nCPM
  • b-cells: 0 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • medulla oblongata: 170 nTPM
  • cerebellum: 139 nTPM
  • thalamus: 137 nTPM
  • spinal cord: 135 nTPM
  • basal ganglia: 132 nTPM
  • white matter: 127 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GDF1.

Disease | AllUniProt

Conditions GDF1 is implicated in, by any mechanism.

Disease | GeneticClinVar

27 pathogenic / likely-pathogenic of 243 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.92
gnomAD pLI
0.41
gnomAD missense Z
1.69
DepMap mean gene effect
-0.18
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GDF1 as an antibody target. Whether an autoantibody or antibody against GDF1 could matter depends on whether native GDF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GDF1 is annotated as secreted, so native GDF1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label GDF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GDF1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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