• Gene id: 79081

Gene Summary

• Gene Symbol: LBHD1   Gene   UCSC   Ensembl
• Aliases: C11orf48
• Gene name: LBH domain containing 1
• Alternate names: LBH domain-containing protein 1,
• Gene location: 11q12.3 (236518213: 236552980)     Exons: 15     NC_000001.11
• Gene summary(Entrez): This gene shares three exons in common with another gene, chromosome 11 open reading frame 98 (GeneID:102288414), but the encoded protein uses a reading frame that is different from that of the chromosome 11 open reading frame 98 gene. [provided by RefSeq

Protein Summary

• Protein general information: Q9BQE6  
  • Name: LBH domain containing protein 1
  • Length: 289  
  • Mass: 31565
  • Tissue specificity: Expressed in bladder cancer tissues (at protein level). {ECO
• Sequence:

  MALVPGRSKEDGLWTRNSPGSSQHPESPRLPNPLWDRGKIGKVEGHQHIQVSTSSACVWQLAYPPVWPNLPAVPI
  QDFSQKSHLPSIVVESSEVNEESGDLHLPHEELLLLTDGEEEDAEAFFQDQSEEPGWAWSPQDPRSPLRTFNAGL
  SWGQDQDEEDACWILEDTACLEATNHCPFWDSTGSRVCRSGFVEYSHLLPPNSFEGAEEEAVQTPAGVESGAASE
  APGGRGCDRPRADHAAPPQEAGVQCTCQHYTVREEAQKTPPADPACPEREDSHGSGSPFKASQD

• Structural information:
  • Protein Domains: (1..12-)
    (/note="LBH-)
    (/evidence="ECO:0000255"-)
  • Interpro: IPR038990  IPR042945  
  • STRING: ENSP00000436848
• Other Databases: GeneCards:  LBHD1  Malacards:  LBHD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045893	positive regulation of transcription, DNA-templated	IBA	biological process
GO:0005634	nucleus	IBA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray