Entity Details

Primary name GFI1B_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ5VTD9
EntryNameGFI1B_HUMAN
FullNameZinc finger protein Gfi-1b
TaxID9606
Evidenceevidence at protein level
Length330
SequenceStatuscomplete
DateCreated2007-10-02
DateModified2021-06-02

Ontological Relatives

GenesGFI1B

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription regulator complex
GO:0005886 plasma membrane
GO:0006325 chromatin organization
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007275 multicellular organism development
GO:0016363 nuclear matrix
GO:0046872 metal ion binding
GO:1903706 regulation of hemopoiesis
GO:1990837 sequence-specific double-stranded DNA binding
GO:2000134 negative regulation of G1/S transition of mitotic cell cycle

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR013087 Zinc finger C2H2-typeDomainDomain
IPR036236 Zinc finger C2H2 superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
187900 OMIMBleeding disorder, platelet-type 17 (BDPLT17)An autosomal dominant disorder characterized by increased bleeding tendency due to platelet dysfunction, and associated with macrothrombocytopenia and red cell anisopoikilocytosis. Platelets appear abnormal on light microscopy, while electron microscopy shows a heterogeneous decrease of alpha granules within platelets. Bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The severity of bleeding is variable with some affected individuals experiencing spontaneous bleeding while other exhibit only abnormal bleeding with surgery. The disease is caused by variants affecting the gene represented in this entry.

Interactions

77 interactions

InteractorPartnerSourcesPublicationsLink
GFI1B_HUMANUSBP1_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANMEGF6_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANGRIP2_HUMANBioGRID, IntAct16713569 details
GFI1B_HUMANKIF17_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANLZTS2_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANMATR3_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANFBLN5_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANCC85B_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANBEGIN_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANNSMF_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANTRI27_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANCSN5_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANAGRIN_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANMEGF8_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANANKS3_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANTRIM1_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANPHC2_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANAJUBA_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANTXD11_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANBABA2_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANCENPJ_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANGRN_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANNELL2_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANRFIP4_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANZN363_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANVISL1_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANBECN1_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANFBLN1_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANNELL1_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANNOTC1_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANDNJA3_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANPGBM_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANTLE5_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANATX2_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANTRAF1_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANJAG2_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANRNF31_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANACTN1_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANFBLN3_HUMANBioGRID, IntAct16713569 details
GFI1B_HUMANHGS_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANMON1A_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANMYH14_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANTMF1_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANBEND5_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANPDZD4_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANTAF1_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANTNS2_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANDTNA_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANCC136_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANTRIP6_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANPSA3_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANPDLI5_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANGPAT4_HUMANBioGRID, HPRD16713569 details
GFI1B_HUMANIFFO1_HUMANBioGRID, HPRD16713569 details
GFI1B_HUMANCENPB_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANHECW1_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANDZAN1_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANLAMB1_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANLTBP4_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANPICK1_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANTSYL2_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANFBLN4_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANRPA12_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANEGFL7_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANKALRN_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANRUN3A_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANZNRF3_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANKDM1A_HUMANBioGRID17707228 28667074 details
GFI1B_HUMANBRCA1_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANHNRPK_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANMYOME_HUMANBioGRID, HPRD16713569 details
GFI1B_HUMANRINT1_HUMANBioGRID, HPRD, IntAct16713569 details
GFI1B_HUMANRCOR1_HUMANBioGRID17707228 details
GFI1B_HUMANSUV91_HUMANBioGRID16688220 details
GFI1B_HUMANHDAC2_HUMANBioGRID17707228 details
GFI1B_HUMANMTG16_HUMANBioGRID26593974 details
GFI1B_HUMANEHMT2_HUMANBioGRID16688220 details