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

Gene ID: 8328, updated on 10-Apr-2016
Official Symbol
GFI1Bprovided by HGNC
Official Full Name
growth factor independent 1B transcription repressorprovided by HGNC
Primary source
HGNC:HGNC:4238
See related
Ensembl:ENSG00000165702 HPRD:05088; 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]
Orthologs
Location:
9q34.13
Exon count:
15
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 9 NC_000009.12 (132945545..132993434)
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 sperm acrosome associated 9 Neighboring gene tuberous sclerosis 1 Neighboring gene microRNA 548aw Neighboring gene ribosomal protein L39 pseudogene 24 Neighboring gene RNA, U7 small nuclear 21 pseudogene Neighboring gene uncharacterized LOC105376305 Neighboring gene uncharacterized LOC105376306 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 5

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 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 modification IEA
Inferred from Electronic Annotation
more info
 
hemopoiesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
PubMed 
regulation of histone H3-K4 methylation IEA
Inferred from Electronic Annotation
more info
 
transcription from RNA polymerase II promoter 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)

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, OTTHUMP00000022443, ENST00000372123, OTTHUMT00000054809
    Conserved Domains (3) summary
    COG5048
    Location:184261
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam13465
    Location:216241
    zf-H2C2_2; Zinc-finger double domain
    sd00017
    Location:176196
    ZF_C2H2; C2H2 Zn finger [structural motif]
  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, OTTHUMP00000235527, ENST00000339463, OTTHUMT00000393840
    Conserved Domains (3) summary
    COG5048
    Location:230307
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam13465
    Location:262287
    zf-H2C2_2; Zinc-finger double domain
    sd00017
    Location:222242
    ZF_C2H2; C2H2 Zn finger [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p2 Primary Assembly

    Range
    132945545..132993434
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519068.1XP_011517370.1  

    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]
    pfam13465
    Location:284309
    zf-H2C2_2; Zinc-finger double domain
    sd00017
    Location:244264
    ZF_C2H2; C2H2 Zn finger [structural motif]
  2. XM_011519069.1XP_011517371.1  

    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]
    pfam13465
    Location:284309
    zf-H2C2_2; Zinc-finger double domain
    sd00017
    Location:244264
    ZF_C2H2; C2H2 Zn finger [structural motif]
  3. XM_006717298.2XP_006717361.1  

    See identical proteins and their annotated locations for XP_006717361.1

    UniProtKB/TrEMBL
    A0A024R8F3
    Conserved Domains (3) summary
    COG5048
    Location:252329
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam13465
    Location:284309
    zf-H2C2_2; Zinc-finger double domain
    sd00017
    Location:244264
    ZF_C2H2; C2H2 Zn finger [structural motif]
  4. XM_011519071.1XP_011517373.1  

    Conserved Domains (2) summary
    pfam13465
    Location:257281
    zf-H2C2_2; Zinc-finger double domain
    sd00017
    Location:194214
    ZF_C2H2; C2H2 Zn finger [structural motif]
  5. XM_011519070.1XP_011517372.1  

    See identical proteins and their annotated locations for XP_011517372.1

    UniProtKB/Swiss-Prot
    Q5VTD9
    Related
    ENSP00000361195, OTTHUMP00000022444, ENST00000372122, OTTHUMT00000054810
    Conserved Domains (3) summary
    COG5048
    Location:230307
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam13465
    Location:262287
    zf-H2C2_2; Zinc-finger double domain
    sd00017
    Location:222242
    ZF_C2H2; C2H2 Zn finger [structural motif]
  6. XM_006717297.2XP_006717360.1  

    See identical proteins and their annotated locations for XP_006717360.1

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

RNA

  1. XR_929847.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 Alternate CHM1_1.1

    Range
    135971359..136017406
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)