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

Gene ID: 8328, updated on 3-Jun-2018
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; Vega:OTTHUMG00000020848
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
See GFI1B in Genome Data Viewer
Location:
9q34.13
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (132945545..132991697)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (135820888..135867084)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene adenylate kinase 8 Neighboring gene sperm acrosome associated 9 Neighboring gene TSC complex subunit 1 Neighboring gene microRNA 548aw Neighboring gene ribosomal protein L39 pseudogene 24 Neighboring gene RNA, U7 small nuclear 21 pseudogene Neighboring gene GATA motif-containing MPRA enhancer 41 Neighboring gene small nucleolar RNA, C/D box 141A Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 5

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II transcription factor activity, sequence-specific DNA binding ISA
Inferred from Sequence Alignment
more info
 
RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
Non-traceable Author Statement
more info
PubMed 
RNA polymerase II transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell proliferation TAS
Traceable Author Statement
more info
PubMed 
chromatin organization IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
nuclear matrix IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor complex IDA
Inferred from Direct Assay
more info
PubMed 
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

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

  1. NG_034227.1 RefSeqGene

    Range
    5001..51153
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_879

mRNA and Protein(s)

  1. NM_001135031.1NP_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.
    Source sequence(s)
    AI097490, AY428733, BC035626, BC043371, BX113435
    Consensus CDS
    CCDS48049.1
    UniProtKB/Swiss-Prot
    Q5VTD9
    Related
    ENSP00000361196.1, OTTHUMP00000022443, ENST00000372123.5, OTTHUMT00000054809
    Conserved Domains (4) summary
    COG5048
    Location:184261
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:176196
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:174196
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:216241
    zf-H2C2_2; Zinc-finger double domain
  2. NM_004188.6NP_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 longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AI097490, AL593851, BC043371
    Consensus CDS
    CCDS6957.1
    UniProtKB/Swiss-Prot
    Q5VTD9
    Related
    ENSP00000344782.3, OTTHUMP00000235527, ENST00000339463.7, OTTHUMT00000393840
    Conserved Domains (3) summary
    COG5048
    Location:230307
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:222242
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:262287
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    132945545..132991697
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519068.2XP_011517370.1  zinc finger protein Gfi-1b isoform X1

    See identical proteins and their annotated locations for XP_011517370.1

    UniProtKB/TrEMBL
    A0A024R8F3
    Conserved Domains (3) summary
    COG5048
    Location:252329
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:244264
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:284309
    zf-H2C2_2; Zinc-finger double domain
  2. XM_011519070.2XP_011517372.1  zinc finger protein Gfi-1b isoform X2

    See identical proteins and their annotated locations for XP_011517372.1

    UniProtKB/Swiss-Prot
    Q5VTD9
    Related
    ENSP00000361195.1, OTTHUMP00000022444, ENST00000372122.3, OTTHUMT00000054810
    Conserved Domains (3) summary
    COG5048
    Location:230307
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:222242
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:262287
    zf-H2C2_2; Zinc-finger double domain
  3. XM_017015176.1XP_016870665.1  zinc finger protein Gfi-1b isoform X3

    UniProtKB/Swiss-Prot
    Q5VTD9
    Conserved Domains (4) summary
    COG5048
    Location:184261
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:176196
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:174196
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:216241
    zf-H2C2_2; Zinc-finger double domain
  4. XM_017015175.1XP_016870664.1  zinc finger protein Gfi-1b isoform X1

    UniProtKB/TrEMBL
    A0A024R8F3
    Related
    ENSP00000490303.1, OTTHUMP00000281652, ENST00000636137.1, OTTHUMT00000488951
    Conserved Domains (3) summary
    COG5048
    Location:252329
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:244264
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:284309
    zf-H2C2_2; Zinc-finger double domain
  5. XM_011519069.2XP_011517371.1  zinc finger protein Gfi-1b isoform X1

    See identical proteins and their annotated locations for XP_011517371.1

    UniProtKB/TrEMBL
    A0A024R8F3
    Conserved Domains (3) summary
    COG5048
    Location:252329
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:244264
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:284309
    zf-H2C2_2; Zinc-finger double domain
  6. XM_006717297.3XP_006717360.1  zinc finger protein Gfi-1b isoform X1

    See identical proteins and their annotated locations for XP_006717360.1

    UniProtKB/TrEMBL
    A0A024R8F3
    Related
    ENSP00000489646.1, OTTHUMP00000281653, ENST00000636263.1, OTTHUMT00000488952
    Conserved Domains (3) summary
    COG5048
    Location:252329
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:244264
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:284309
    zf-H2C2_2; Zinc-finger double domain
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