GFI1B growth factor independent 1B transcriptional repressor [Homo sapiens (human)] - Gene

Summary

Official Symbol: GFI1Bprovided by HGNC
Official Full Name: growth factor independent 1B transcriptional repressorprovided by HGNC
Primary source: HGNC:HGNC:4238
See related: Ensembl:ENSG00000165702 MIM:604383; AllianceGenome:HGNC:4238
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BDPLT17; ZNF163B
Summary: 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]
Expression: Biased expression in bone marrow (RPKM 8.3) and testis (RPKM 0.5) See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.13

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (132945531..132993434)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (145157346..145209367)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (135820918..135867074)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GFI1B and LSD1 repress myeloid traits during megakaryocyte differentiation.
Title: GFI1B and LSD1 repress myeloid traits during megakaryocyte differentiation.
Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia.
Title: Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia.
Novel EWSR1::GFI1B gene fusion in angiofibroma of soft tissue.
Title: Novel EWSR1::GFI1B gene fusion in angiofibroma of soft tissue.
GFI1B acts as a metabolic regulator in hematopoiesis and acute myeloid leukemia.
Title: GFI1B acts as a metabolic regulator in hematopoiesis and acute myeloid leukemia.
Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation.
Title: Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation.
Fuchs Endothelial Corneal Dystrophy associated risk variant, rs3768617 in LAMC1 shows allele specific binding of GFI1B.
Title: Fuchs Endothelial Corneal Dystrophy associated risk variant, rs3768617 in LAMC1 shows allele specific binding of GFI1B.
Characterization of a genomic region 8 kb downstream of GFI1B associated with myeloproliferative neoplasms.
Title: Characterization of a genomic region 8 kb downstream of GFI1B associated with myeloproliferative neoplasms.
The transcription factors GFI1 and GFI1B as modulators of the innate and acquired immune response.
Title: The transcription factors GFI1 and GFI1B as modulators of the innate and acquired immune response.
Specific proteome changes in platelets from individuals with GATA1-, GFI1B-, and RUNX1-linked bleeding disorders.
Title: Specific proteome changes in platelets from individuals with GATA1-, GFI1B-, and RUNX1-linked bleeding disorders.
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.

Submit: New GeneRIF Correction See all GeneRIFs (45)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Platelet-type bleeding disorder 17 MedGen: C1861194 OMIM: 187900 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-T56858 (e-PCR)
- UniSTS:69919

RH46545 (e-PCR)
- UniSTS:16475

D9S1140 (e-PCR)
- UniSTS:52085

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	NAS Non-traceable Author Statement more info	PubMed
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	IPI Inferred from Physical Interaction more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in chromatin organization	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of G1/S transition of mitotic cell cycle	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
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	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: zinc finger protein Gfi-1b

Names: growth factor independent 1B (potential regulator of CDKN1A, translocated in CML); growth factor independent 1B transcription repressor

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.

Genomic

NG_034227.1 RefSeqGene

Range

5001..51153

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_879

mRNA and Protein(s)

NM_001135031.2 → NP_001128503.1 zinc finger protein Gfi-1b isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) has a shorter 5' UTR and lacks a coding exon, compared to variant 1. The resulting isoform (2) lacks an internal segment compared to isoform 1. Variants 2 and 5 both encode the same isoform (2).

Source sequence(s)

AL593851, AY428733, BC035626, BC043371, BX113435

Consensus CDS

CCDS48049.1

UniProtKB/Swiss-Prot

Q5VTD9

Related

ENSP00000361196.1, ENST00000372123.5

Conserved Domains (4) summary

COG5048
Location:184 → 261

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

sd00017
Location:176 → 196

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:174 → 196

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:216 → 241

zf-H2C2_2; Zinc-finger double domain
NM_001371908.1 → NP_001358837.1 zinc finger protein Gfi-1b isoform 3

Status: REVIEWED

Source sequence(s)

AL593851

Consensus CDS

CCDS94523.1

UniProtKB/TrEMBL

A0A024R8F3

Related

ENSP00000490303.1, ENST00000636137.1

Conserved Domains (3) summary

COG5048
Location:252 → 329

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

sd00017
Location:244 → 264

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:284 → 309

zf-H2C2_2; Zinc-finger double domain
NM_001377304.1 → NP_001364233.1 zinc finger protein Gfi-1b isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (4), as well as variant 1, encodes isoform 1.

Source sequence(s)

AL593851

Consensus CDS

CCDS6957.1

UniProtKB/Swiss-Prot

O95270, Q5VTD8, Q5VTD9, Q6FHZ2, Q6T888

Related

ENSP00000361195.1, ENST00000372122.4

Conserved Domains (4) summary

PHA00733
Location:191 → 239

PHA00733; hypothetical protein

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
NM_001377305.1 → NP_001364234.1 zinc finger protein Gfi-1b isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (5), as well as variant 2, encodes isoform 2.

Source sequence(s)

AL593851

Consensus CDS

CCDS48049.1
NM_004188.8 → NP_004179.3 zinc finger protein Gfi-1b isoform 1

See identical proteins and their annotated locations for NP_004179.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 4 both encode the same isoform (1).

Source sequence(s)

AL445645, AL593851

Consensus CDS

CCDS6957.1

UniProtKB/Swiss-Prot

O95270, Q5VTD8, Q5VTD9, Q6FHZ2, Q6T888

Related

ENSP00000344782.3, ENST00000339463.7

Conserved Domains (4) summary

PHA00733
Location:191 → 239

PHA00733; hypothetical protein

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

132945531..132993434

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047423942.1 → XP_047279898.1 zinc finger protein Gfi-1b isoform X2
XM_006717297.4 → XP_006717360.1 zinc finger protein Gfi-1b isoform X1

See identical proteins and their annotated locations for XP_006717360.1

UniProtKB/TrEMBL

A0A024R8F3

Conserved Domains (3) summary

COG5048
Location:252 → 329

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

sd00017
Location:244 → 264

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:284 → 309

zf-H2C2_2; Zinc-finger double domain

RNA

XR_007061360.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

145157346..145209367

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054363919.1 → XP_054219894.1 zinc finger protein Gfi-1b isoform X1

UniProtKB/TrEMBL

A0A024R8F3
XM_054363923.1 → XP_054219898.1 zinc finger protein Gfi-1b isoform X4
XM_054363922.1 → XP_054219897.1 zinc finger protein Gfi-1b isoform X3

UniProtKB/Swiss-Prot

O95270, Q5VTD8, Q5VTD9, Q6FHZ2, Q6T888
XM_054363920.1 → XP_054219895.1 zinc finger protein Gfi-1b isoform X1

UniProtKB/TrEMBL

A0A024R8F3
XM_054363921.1 → XP_054219896.1 zinc finger protein Gfi-1b isoform X1

UniProtKB/TrEMBL

A0A024R8F3