• Gene id: 116496

Gene Summary

• Gene Symbol: NIBAN1   Gene   UCSC   Ensembl
• Aliases: C1orf24, FAM129A, GIG39, NIBAN
• Gene name: niban apoptosis regulator 1
• Alternate names: protein Niban 1, cell growth-inhibiting gene 39 protein, family with sequence similarity 129 member A, protein Niban,
• Gene location: 1q25.3 (184974507: 184791031)     Exons: 15     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the family with sequence similarity 129 protein family. This gene is highly expressed in several cancer cells and may serve as a prognostic marker for certain cancers. The encoded protein may play a role in regulating p53-med

Protein Summary

• Protein general information: Q9BZQ8  
  • Name: Protein Niban 1 (Cell growth inhibiting gene 39 protein) (Protein FAM129A)
  • Length: 928  
  • Mass: 103135
  • Tissue specificity: Expressed in various types of thyroid tumor such as papillary thyroid carcinomas and oxyphilic thyroid tumors but not in normal thyroid tissue (at protein level). Strongly expressed in heart, skeletal muscle, pancreas, white blood cell
• Sequence:

  MGGSASSQLDEGKCAYIRGKTEAAIKNFSPYYSRQYSVAFCNHVRTEVEQQRDLTSQFLKTKPPLAPGTILYEAE
  LSQFSEDIKKWKERYVVVKNDYAVESYENKEAYQRGAAPKCRILPAGGKVLTSEDEYNLLSDRHFPDPLASSEKE
  NTQPFVVLPKEFPVYLWQPFFRHGYFCFHEAADQKRFSALLSDCVRHLNHDYMKQMTFEAQAFLEAVQFFRQEKG
  HYGSWEMITGDEIQILSNLVMEELLPTLQTDLLPKMKGKKNDRKRTWLGLLEEAYTLVQHQVSEGLSALKEECRA
  LTKGLEGTIRSDMDQIVNSKNYLIGKIKAMVAQPAEKSCLESVQPFLASILEELMGPVSSGFSEVRVLFEKEVNE
  VSQNFQTTKDSVQLKEHLDRLMNLPLHSVKMEPCYTKVNLLHERLQDLKSRFRFPHIDLVVQRTQNYMQELMENA
  VFTFEQLLSPHLQGEASKTAVAIEKVKLRVLKQYDYDSSTIRKKIFQEALVQITLPTVQKALASTCKPELQKYEQ
  FIFADHTNMIHVENVYEEILHQILLDETLKVIKEAAILKKHNLFEDNMALPSESVSSLTDLKPPTGSNQASPARR
  ASAILPGVLGSETLSNEVFQESEEEKQPEVPSSLAKGESLSLPGPSPPPDGTEQVIISRVDDPVVNPVATEDTAG
  LPGTCSSELEFGGTLEDEEPAQEEPEPITASGSLKALRKLLTASVEVPVDSAPVMEEDTNGESHVPQENEEEEEK
  EPSQAAAIHPDNCEESEVSEREAQPPCPEAHGEELGGFPEVGSPASPPASGGLTEEPLGPMEGELPGEACTLTAH
  EGRGGKCTEEGDASQQEGCTLGSDPICLSESQVSEEQEEMGGQSSAAQATASVNAEEIKVARIHECQWVVEDAPN
  PDVLLSHKDDVKEGEGGQESFPELPSEE

• Structural information:
  • Interpro: IPR026088  
  • STRING: ENSP00000356481
• Other Databases: GeneCards:  NIBAN1  Malacards:  NIBAN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006417	regulation of translation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045727	positive regulation of translation	IEA	biological process
GO:0001933	negative regulation of protein phosphorylation	IEA	biological process
GO:0034976	response to endoplasmic reticulum stress	IEA	biological process
GO:0001934	positive regulation of protein phosphorylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0034976	response to endoplasmic reticulum stress	ISS	biological process
GO:0001934	positive regulation of protein phosphorylation	ISS	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0045727	positive regulation of translation	ISS	biological process
GO:0001933	negative regulation of protein phosphorylation	ISS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq