Gfi1b growth factor independent 1B [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gfi1bprovided by MGI
Official Full Name: growth factor independent 1Bprovided by MGI
Primary source: MGI:MGI:1276578
See related: Ensembl:ENSMUSG00000026815 AllianceGenome:MGI:1276578
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gfi-1B
Summary: Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in positive regulation of granulocyte differentiation and regulation of erythrocyte differentiation. Predicted to be located in nuclear matrix; nucleoplasm; and plasma membrane. Predicted to be part of transcription regulator complex. Predicted to be active in nucleus. Is expressed in eye; gut; hemolymphoid system; liver; and testis. Human ortholog(s) of this gene implicated in gray platelet syndrome and platelet-type bleeding disorder 17. Orthologous to human GFI1B (growth factor independent 1B transcriptional repressor). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in liver E14.5 (RPKM 51.1), liver E14 (RPKM 38.6) and 2 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 A3; 2 19.38 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (28499462..28511994, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (28609450..28621982, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GFI1B specifies developmental potential of innate lymphoid cell progenitors in the lungs.
Title: GFI1B specifies developmental potential of innate lymphoid cell progenitors in the lungs.
Gata2-regulated Gfi1b expression controls endothelial programming during endothelial-to-hematopoietic transition.
Title: Gata2-regulated Gfi1b expression controls endothelial programming during endothelial-to-hematopoietic transition.
Dominant negative Gfi1b mutations cause moderate thrombocytopenia and an impaired stress thrombopoiesis associated with mild erythropoietic abnormalities in mice.
Title: Dominant negative Gfi1b mutations cause moderate thrombocytopenia and an impaired stress thrombopoiesis associated with mild erythropoietic abnormalities in mice.
Gfi1b regulates the level of Wnt3a/beta-catenin signaling in hematopoietic stem cells and megakaryocytes.
Title: Gfi1b regulates the level of Wnt/β-catenin signaling in hematopoietic stem cells and megakaryocytes.
We demonstrate that overexpression of Gfi1b, c-Fos, and Gata2, previously reported to transdifferentiate fibroblasts into hematopoietic progenitors in vitro, can induce long-term HSC formation in vivo.
Title: In Vivo Generation of Engraftable Murine Hematopoietic Stem Cells by Gfi1b, c-Fos, and Gata2 Overexpression within Teratoma.
GFI1B is an essential protein for the normal development of the megakaryocyte lineage
Title: Functional characterization of a novel GFI1B mutation causing congenital macrothrombocytopenia.
We conclude that Gfi1b controls major functions of megakaryocytes such as integrin-dependent cytoskeleton organization, spreading and migration through the regulation of PAK activity whereas the proplatelet formation defect in GFI1B-deficient megakaryocytes is due, at least partially, to an insufficient alpha-tubulin content.
Title: Gfi1b controls integrin signaling-dependent cytoskeleton dynamics and organization in megakaryocytes.
these results identify Rgs18 as a new and crucial effector of Gfi1b that regulates downstream signaling and gene expression programs to orchestrate erythro-megakaryocytic lineage choices.
Title: Reciprocal regulation of alternative lineages by Rgs18 and its transcriptional repressor Gfi1b.
Gfi1b is a regulator of embryonic globin expression and embryonic and adult erythroid maturation.
Title: Growth factor independence 1b (gfi1b) is important for the maturation of erythroid cells and the regulation of embryonic globin expression.
results, supported by evidence from mouse models, identify GFI1 and GFI1B as prominent medulloblastoma oncogenes and implicate 'enhancer hijacking' as an efficient mechanism driving oncogene activation in a childhood cancer
Title: Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:488253

AF017275 (e-PCR)
- UniSTS:158936

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in positive regulation of granulocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of erythrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of hemopoiesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in nuclear matrix	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: zinc finger protein Gfi-1b

Names: growth factor independent protein 1B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001160406.2 → NP_001153878.1 zinc finger protein Gfi-1b isoform 2

See identical proteins and their annotated locations for NP_001153878.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) has an additional segment in the CDS, as compared to variant 1. The resulting isoform (2) is longer but has identical N- and C_termini, as compared to isoform 1.

Source sequence(s)

AL731851

Consensus CDS

CCDS50549.1

UniProtKB/TrEMBL

B7ZNH2

Related

ENSMUSP00000128052.2, ENSMUST00000164290.8

Conserved Domains (4) summary

COG5048
Location:263 → 340

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:255 → 275

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:253 → 275

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:295 → 320

zf-H2C2_2; Zinc-finger double domain
NM_008114.4 → NP_032140.1 zinc finger protein Gfi-1b isoform 1

See identical proteins and their annotated locations for NP_032140.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes a dominant isoform (1).

Source sequence(s)

AL731851

Consensus CDS

CCDS15843.1

UniProtKB/Swiss-Prot

O70237, Q3U039

Related

ENSMUSP00000028156.8, ENSMUST00000028156.8

Conserved Domains (3) summary

COG5048
Location:230 → 307

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:222 → 242

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:262 → 287

zf-H2C2_2; Zinc-finger double domain