Seroatlas · Human Serome Atlas

GFI1

Zinc finger protein Gfi-1

Also known as: GFI-1, GFI1_HUMAN, GFI1A, ZNF163

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

Protein identityUniProt · HPA

UniProt accession
Q99684
Gene
GFI1
Ensembl
ENSG00000162676
Chromosome
1
Canonical length
422 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

OverviewNCBI Gene

This gene encodes a nuclear zinc finger protein that functions as a transcriptional repressor. This protein plays a role in diverse developmental contexts, including hematopoiesis and oncogenesis. It functions as part of a complex along with other cofactors to control histone modifications that lead to silencing of the target gene promoters. Mutations in this gene cause autosomal dominant severe congenital neutropenia, and also dominant nonimmune chronic idiopathic neutropenia of adults, which are heterogeneous hematopoietic disorders that cause predispositions to leukemias and infections. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

422 residues, UniProt reviewed canonical sequence.

>Q99684|GFI1
     1  MPRSFLVKSK KAHSYHQPRS PGPDYSLRLE NVPAPSRADS TSNAGGAKAE PRDRLSPESQ
    61  LTEAPDRASA SPDSCEGSVC ERSSEFEDFW RPPSPSASPA SEKSMCPSLD EAQPFPLPFK
   121  PYSWSGLAGS DLRHLVQSYR PCGALERGAG LGLFCEPAPE PGHPAALYGP KRAAGGAGAG
   181  APGSCSAGAG ATAGPGLGLY GDFGSAAAGL YERPTAAAGL LYPERGHGLH ADKGAGVKVE
   241  SELLCTRLLL GGGSYKCIKC SKVFSTPHGL EVHVRRSHSG TRPFACEMCG KTFGHAVSLE
   301  QHKAVHSQER SFDCKICGKS FKRSSTLSTH LLIHSDTRPY PCQYCGKRFH QKSDMKKHTF
   361  IHTGEKPHKC QVCGKAFSQS SNLITHSRKH TGFKPFGCDL CGKGFQRKVD LRRHRETQHG
   421  LK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GFI1 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
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.59
Highest tissue expression
76 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 76 nTPM
  • thymus: 44 nTPM
  • pancreas: 12 nTPM
  • lymph node: 9.9 nTPM
  • appendix: 8.2 nTPM
  • spleen: 8 nTPM

Single-cell type

  • neutrophil progenitors: 83 nCPM
  • paneth cells: 23 nCPM
  • t-cells: 23 nCPM
  • innate lymphoid cells: 22 nCPM
  • nk-cells: 21 nCPM
  • goblet cells: 21 nCPM

Immune cell

  • gdT-cell: 3.5 nTPM
  • naive CD8 T-cell: 2.9 nTPM
  • memory CD8 T-cell: 1.8 nTPM
  • plasmacytoid DC: 1.6 nTPM
  • MAIT T-cell: 1.5 nTPM
  • memory CD4 T-cell: 1.3 nTPM

Brain region

  • medulla oblongata: 1.2 nTPM
  • choroid plexus: 1.1 nTPM
  • pons: 1 nTPM
  • spinal cord: 1 nTPM
  • thalamus: 0.9 nTPM
  • cerebral cortex: 0.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GFI1.

Disease | AllUniProt

Conditions GFI1 is implicated in, by any mechanism.

  • Neutropenia, severe congenital 2, autosomal dominant (SCN2) MIM:613107
  • Dominant nonimmune chronic idiopathic neutropenia of adults (NI-CINA) MIM:607847

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 788 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Neutropenia, severe congenital, 2, autosomal dominant

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)
0.56
gnomAD pLI
0.25
gnomAD missense Z
1.59
DepMap mean gene effect
0.02
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

InteractionsUniProt · HPA

Protein binding partners of GFI1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GFI1 as an antibody target. Whether an autoantibody or antibody against GFI1 could matter depends on whether native GFI1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GFI1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label GFI1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GFI1. 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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