ENSG00000162676


Homo sapiens

Features
Gene ID: ENSG00000162676
  
Biological name :GFI1
  
Synonyms : GFI1 / growth factor independent 1 transcriptional repressor / Q99684
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: p22.1
Gene start: 92474762
Gene end: 92486876
  
Corresponding Affymetrix probe sets: 206589_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000294702
Ensembl peptide - ENSP00000359357
Ensembl peptide - ENSP00000399719
NCBI entrez gene - 2672     See in Manteia.
OMIM - 600871
RefSeq - XM_011541246
RefSeq - NM_001127215
RefSeq - NM_001127216
RefSeq - NM_005263
RefSeq - XM_005270749
RefSeq - XM_011541245
RefSeq Peptide - NP_001120687
RefSeq Peptide - NP_001120688
RefSeq Peptide - NP_005254
swissprot - Q99684
Ensembl - ENSG00000162676
  
Related genetic diseases (OMIM): 607847 - ?Neutropenia, nonimmune chronic idiopathic, of adults, 607847
  613107 - ?Neutropenia, severe congenital 2, autosomal dominant, 613107

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 gfi1aaENSDARG00000020746Danio rerio
 gfi1abENSDARG00000044457Danio rerio
 GFI1ENSGALG00000043650Gallus gallus
 Gfi1ENSMUSG00000029275Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GFI1B / Q5VTD9 / growth factor independent 1B transcriptional repressorENSG0000016570247
FEZF1 / A0PJY2 / FEZ family zinc finger 1ENSG0000012861025
FEZF2 / Q8TBJ5 / FEZ family zinc finger 2ENSG0000015326625
ZNF8 / P17098 / zinc finger protein 8ENSG0000027812922


Protein motifs (from Interpro)
Interpro ID Name
 IPR013087  Zinc finger C2H2-type
 IPR029840  Zinc finger protein Gfi-1/1b
 IPR036236  Zinc finger C2H2 superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000083 regulation of transcription involved in G1/S transition of mitotic cell cycle TAS
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IDA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0010956 negative regulation of calcidiol 1-monooxygenase activity IDA
 biological_processGO:0010957 negative regulation of vitamin D biosynthetic process IC
 biological_processGO:0010977 negative regulation of neuron projection development IDA
 biological_processGO:0016032 viral process TAS
 biological_processGO:0030097 hemopoiesis IEA
 biological_processGO:0032088 negative regulation of NF-kappaB transcription factor activity ISS
 biological_processGO:0034121 regulation of toll-like receptor signaling pathway IDA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IDA
 biological_processGO:0051569 regulation of histone H3-K4 methylation IEA
 biological_processGO:0070105 positive regulation of interleukin-6-mediated signaling pathway IDA
 biological_processGO:0071222 cellular response to lipopolysaccharide IEP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0016363 nuclear matrix IDA
 cellular_componentGO:0016604 nuclear body IDA
 cellular_componentGO:0017053 transcriptional repressor complex IDA
 molecular_functionGO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0044212 transcription regulatory region DNA binding IDA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001875 Neutropenia 
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 HP:0004808 Acute myeloid leukemia "A form of leukemia characterized by overproduction of an early myeloid cell." [HPO:curators]
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 HP:0005549 Severe congenital neutropenia 
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 HP:0010976 Reduction in B cell number "An abnormal decrease from the normal count of `B cells` (CL:0000236)." [HPO:probinson]
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 HP:0012311 Monocytosis "An increased number of circulating `monocytes` (CL:0000576)." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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