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

    Gene ID: 8328, updated on 7-Apr-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    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_000009.12Genomic Context describing neighboring genes Neighboring gene adenylate kinase 8 Neighboring gene sperm acrosome associated 9 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:135778941-135779625 Neighboring gene TSC complex subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20438 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20439 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:135819875-135820608 Neighboring gene microRNA 548aw Neighboring gene ribosomal protein L39 pseudogene 24 Neighboring gene RNA, U7 small nuclear 21 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:135869188-135869748 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:135869749-135870309 Neighboring gene CRISPRi-validated cis-regulatory element chr9.3630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135876277-135876777 Neighboring gene GATA motif-containing MPRA enhancer 41 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135880361-135881232 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:135894502-135895194 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:135895195-135895887 Neighboring gene uncharacterized LOC105376306 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29226 Neighboring gene small nucleolar RNA, C/D box 141A Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 5

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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

    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)

    NEW Try the new Transcript table

    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_001135031.2NP_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: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_001371908.1NP_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: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
    3. NM_001377304.1NP_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:191239
      PHA00733; hypothetical protein
      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
    4. NM_001377305.1NP_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
    5. NM_004188.8NP_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:191239
      PHA00733; hypothetical protein
      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: 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

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      132945531..132993434
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047423942.1XP_047279898.1  zinc finger protein Gfi-1b isoform X2

    2. XM_006717297.4XP_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: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

    RNA

    1. XR_007061360.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      145157346..145209367
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/TrEMBL
      A0A024R8F3
    2. XM_054363923.1XP_054219898.1  zinc finger protein Gfi-1b isoform X4

    3. XM_054363922.1XP_054219897.1  zinc finger protein Gfi-1b isoform X3

      UniProtKB/Swiss-Prot
      O95270, Q5VTD8, Q5VTD9, Q6FHZ2, Q6T888
    4. XM_054363920.1XP_054219895.1  zinc finger protein Gfi-1b isoform X1

      UniProtKB/TrEMBL
      A0A024R8F3
    5. XM_054363921.1XP_054219896.1  zinc finger protein Gfi-1b isoform X1

      UniProtKB/TrEMBL
      A0A024R8F3

    RNA

    1. XR_008488079.1 RNA Sequence