• Gene id: 283254

Gene Summary

• Gene Symbol: HARBI1   Gene   UCSC   Ensembl
• Aliases: C11orf77
• Gene name: harbinger transposase derived 1
• Alternate names: putative nuclease HARBI1, harbinger transposase-derived nuclease,
• Gene location: 11p11.2 (46617893: 46602860)     Exons: 8     NC_000011.10

Protein Summary

• Protein general information: Q96MB7  
  • Name: Putative nuclease HARBI1 (EC 3.1. . ) (Harbinger transposase derived nuclease)
  • Length: 349  
  • Mass: 39146
  • Tissue specificity: Detected in brain, eye, nerve tissue, kidney and lung. {ECO
• Sequence:

  MAIPITVLDCDLLLYGRGHRTLDRFKLDDVTDEYLMSMYGFPRQFIYYLVELLGANLSRPTQRSRAISPETQVLA
  ALGFYTSGSFQTRMGDAIGISQASMSRCVANVTEALVERASQFIRFPADEASIQALKDEFYGLAGMPGVMGVVDC
  IHVAIKAPNAEDLSYVNRKGLHSLNCLMVCDIRGTLMTVETNWPGSLQDCAVLQQSSLSSQFEAGMHKDSWLLGD
  SSFFLRTWLMTPLHIPETPAEYRYNMAHSATHSVIEKTFRTLCSRFRCLDGSKGALQYSPEKSSHIILACCVLHN
  ISLEHGMDVWSSPMTGPMEQPPEEEYEHMESLDLEADRIRQELMLTHFS

• Structural information:
  • Protein Domains: (148..30-)
    (/note="DDE-Tnp4)
    (/evidence="ECO:0000255"-)
  • Interpro: IPR026103  IPR027806  
  • STRING: ENSP00000317743
• Other Databases: GeneCards:  HARBI1  Malacards:  HARBI1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process

Diseases

Associated diseases	References
Male factor infertility	MIK: 29961538
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray