GFI1B
Zinc finger protein Gfi-1b
Also known as: GFI1B_HUMAN, ZNF163B
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q5VTD9
- Gene
- GFI1B
- Ensembl
- ENSG00000165702
- Chromosome
- 9
- Canonical length
- 330 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Plasma membrane
OverviewNCBI Gene
This gene encodes a zinc-finger containing transcriptional regulator that is primarily expressed in cells of hematopoietic lineage. The encoded protein complexes with numerous other transcriptional regulatory proteins including GATA-1, runt-related transcription factor 1 and histone deacetylases to control expression of genes involved in the development and maturation of erythrocytes and megakaryocytes. Mutations in this gene are the cause of the autosomal dominant platelet disorder, platelet-type bleeding disorder-17. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
Canonical amino-acid sequenceUniProt
330 residues, UniProt reviewed canonical sequence.
>Q5VTD9|GFI1B
1 MPRSFLVKSK KAHTYHQPRV QEDEPLWPPA LTPVPRDQAP SNSPVLSTLF PNQCLDWTNL
61 KREPELEQDQ NLARMAPAPE GPIVLSRPQD GDSPLSDSPP FYKPSFSWDT LATTYGHSYR
121 QAPSTMQSAF LEHSVSLYGS PLVPSTEPAL DFSLRYSPGM DAYHCVKCNK VFSTPHGLEV
181 HVRRSHSGTR PFACDICGKT FGHAVSLEQH THVHSQERSF ECRMCGKAFK RSSTLSTHLL
241 IHSDTRPYPC QFCGKRFHQK SDMKKHTYIH TGEKPHKCQV CGKAFSQSSN LITHSRKHTG
301 FKPFSCELCT KGFQRKVDLR RHRESQHNLKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GFI1B 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)
- 0.53
- Highest tissue expression
- 37 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 37 nTPM
- testis: 2 nTPM
- spleen: 1.7 nTPM
- lung: 1.1 nTPM
- duodenum: 0.9 nTPM
- small intestine: 0.9 nTPM
Single-cell type
- platelets: 457 nCPM
- megakaryocytes: 328 nCPM
- early spermatids: 191 nCPM
- erythrocyte progenitors: 141 nCPM
- late spermatids: 84 nCPM
- megakaryocyte progenitors: 81 nCPM
Immune cell
- eosinophil: 397 nTPM
- basophil: 196 nTPM
- non-classical monocyte: 15 nTPM
- total PBMC: 13 nTPM
- neutrophil: 4 nTPM
- intermediate monocyte: 1.9 nTPM
Brain region
- medulla oblongata: 1.8 nTPM
- white matter: 1.8 nTPM
- cerebellum: 1.4 nTPM
- cerebral cortex: 1.3 nTPM
- pons: 1.2 nTPM
- thalamus: 1.2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GFI1B.
Disease | AllUniProt
Conditions GFI1B is implicated in, by any mechanism.
- Bleeding disorder, platelet-type, 17 (BDPLT17) MIM:187900
Disease | GeneticClinVar
11 pathogenic / likely-pathogenic of 133 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Platelet-type bleeding disorder 17
- Inborn genetic diseases
- Storage pool disease of platelets
- Abnormal bleeding
- Thrombocytopenia
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)
- 0.87
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.5
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- chromatin organization
- negative regulation of G1/S transition of mitotic cell cycle
- negative regulation of transcription by RNA polymerase II
- regulation of hemopoiesis
- regulation of transcription by RNA polymerase II
Molecular functions
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- RNA polymerase II-specific DNA-binding transcription factor binding
- sequence-specific double-stranded DNA binding
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GFI1B 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 GFI1B as an antibody target. Whether an autoantibody or antibody against GFI1B could matter depends on whether native GFI1B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GFI1B 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 GFI1B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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