• Gene id: 8328

Gene Summary

• Gene Symbol: GFI1B   Gene   UCSC   Ensembl
• Aliases: BDPLT17, ZNF163B
• Gene name: growth factor independent 1B transcriptional repressor
• Alternate names: zinc finger protein Gfi-1b, growth factor independent 1B (potential regulator of CDKN1A, translocated in CML), growth factor independent 1B transcription repressor,
• Gene location: 9q34.13 (132945530: 132991696)     Exons: 14     NC_000009.12
• Gene summary(Entrez): 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 transc
• OMIM: 602825

Protein Summary

• Protein general information: Q5VTD9  
  • Name: Zinc finger protein Gfi 1b (Growth factor independent protein 1B) (Potential regulator of CDKN1A translocated in CML)
  • Length: 330  
  • Mass: 37492
  • Tissue specificity: Expressed in bone marrow and fetal liver, but also detectable in fetal spleen, fetal thymus, and testes. Detected in hematopoietic stem cells, erythroblasts, and megakaryocytes. Overexpressed in bone marrow of patients with erythroleuk
• Sequence:

  MPRSFLVKSKKAHTYHQPRVQEDEPLWPPALTPVPRDQAPSNSPVLSTLFPNQCLDWTNLKREPELEQDQNLARM
  APAPEGPIVLSRPQDGDSPLSDSPPFYKPSFSWDTLATTYGHSYRQAPSTMQSAFLEHSVSLYGSPLVPSTEPAL
  DFSLRYSPGMDAYHCVKCNKVFSTPHGLEVHVRRSHSGTRPFACDICGKTFGHAVSLEQHTHVHSQERSFECRMC
  GKAFKRSSTLSTHLLIHSDTRPYPCQFCGKRFHQKSDMKKHTYIHTGEKPHKCQVCGKAFSQSSNLITHSRKHTG
  FKPFSCELCTKGFQRKVDLRRHRESQHNLK

• Structural information:
  • Interpro: IPR037044  IPR036236  IPR013087  
  • Prosite: PS00028 PS50157
  • STRING: ENSP00000344782
• Other Databases: GeneCards:  GFI1B  Malacards:  GFI1B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1903706	regulation of hemopoiesis	IBA	biological process
GO:0010468	regulation of gene expression	IBA	biological process
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0016363	nuclear matrix	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IPI	molecular function
GO:0005667	transcription regulator complex	IDA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:2000134	negative regulation of G1/S transition of mitotic cell cycle	TAS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:1903706	regulation of hemopoiesis	IBA	biological process
GO:0010468	regulation of gene expression	IBA	biological process
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0016363	nuclear matrix	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IPI	molecular function
GO:0005667	transcription regulator complex	IDA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:2000134	negative regulation of G1/S transition of mitotic cell cycle	TAS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process

Diseases

Associated diseases	References
Macrothrombocytopenia	KEGG:H01740
Macrothrombocytopenia	KEGG:H01740
Myeloid neoplasm	PMID:19360458
Gray platelet syndrome	PMID:24325358
aplastic anemia	PMID:17156408
megakaryocytic leukemia	PMID:17156408
acute myeloid leukemia	PMID:17156408
acute lymphocytic leukemia	PMID:19360458
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray