Entity Details

Primary name GFI1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ99684
EntryNameGFI1_HUMAN
FullNameZinc finger protein Gfi-1
TaxID9606
Evidenceevidence at protein level
Length422
SequenceStatuscomplete
DateCreated1999-07-15
DateModified2021-06-02

Ontological Relatives

GenesGFI1

GO terms

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GOName
GO:0000083 regulation of transcription involved in G1/S transition of mitotic cell cycle
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000976 transcription cis-regulatory region binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0010956 negative regulation of calcidiol 1-monooxygenase activity
GO:0010957 negative regulation of vitamin D biosynthetic process
GO:0010977 negative regulation of neuron projection development
GO:0016032 viral process
GO:0016363 nuclear matrix
GO:0016604 nuclear body
GO:0017053 transcription repressor complex
GO:0030097 hemopoiesis
GO:0032088 negative regulation of NF-kappaB transcription factor activity
GO:0034121 regulation of toll-like receptor signaling pathway
GO:0045892 negative regulation of transcription, DNA-templated
GO:0046872 metal ion binding
GO:0051569 regulation of histone H3-K4 methylation
GO:0070105 positive regulation of interleukin-6-mediated signaling pathway
GO:0071222 cellular response to lipopolysaccharide
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR013087 Zinc finger C2H2-typeDomainDomain
IPR029840 Zinc finger protein Gfi-1/1bFamilyFamily
IPR036236 Zinc finger C2H2 superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
613107 OMIMNeutropenia, severe congenital 2, autosomal dominant (SCN2)A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. The disease is caused by variants affecting the gene represented in this entry.
607847 OMIMDominant nonimmune chronic idiopathic neutropenia of adults (NI-CINA)Relatively mild form of neutropenia diagnosed in adults, but predisposing to leukemia in a subset of patients. The disease is caused by variants affecting the gene represented in this entry.