• Gene id: 10767

Gene Summary

• Gene Symbol: HBS1L   Gene   UCSC   Ensembl
• Aliases: EF-1a, ERFS, HBS1, HSPC276, eRF3c
• Gene name: HBS1 like translational GTPase
• Alternate names: HBS1-like protein, ERF3-similar protein, Hsp70 subfamily B suppressor 1-like protein, eRF3 family member,
• Gene location: 6q23.3 (207088794: 207099992)     Exons: 9     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the GTP-binding elongation factor family. It is expressed in multiple tissues with the highest expression in heart and skeletal muscle. The intergenic region of this gene and the MYB gene has been identified to be a quantitat
• OMIM: 612450

Protein Summary

• Protein general information: Q9Y450  
  • Name: HBS1 like protein (ERFS)
  • Length: 684  
  • Mass: 75473
  • Tissue specificity: Detected in heart, brain, placenta, liver, muscle, kidney and pancreas. {ECO
• Sequence:

  MARHRNVRGYNYDEDFEDDDLYGQSVEDDYCISPSTAAQFIYSRRDKPSVEPVEEYDYEDLKESSNSVSNHQLSG
  FDQARLYSCLDHMREVLGDAVPDEILIEAVLKNKFDVQKALSGVLEQDRVQSLKDKNEATVSTGKIAKGKPVDSQ
  TSRSESEIVPKVAKMTVSGKKQTMGFEVPGVSSEENGHSFHTPQKGPPIEDAIASSDVLETASKSANPPHTIQAS
  EEQSSTPAPVKKSGKLRQQIDVKAELEKRQGGKQLLNLVVIGHVDAGKSTLMGHMLYLLGNINKRTMHKYEQESK
  KAGKASFAYAWVLDETGEERERGVTMDVGMTKFETTTKVITLMDAPGHKDFIPNMITGAAQADVAVLVVDASRGE
  FEAGFETGGQTREHGLLVRSLGVTQLAVAVNKMDQVNWQQERFQEITGKLGHFLKQAGFKESDVGFIPTSGLSGE
  NLITRSQSSELTKWYKGLCLLEQIDSFKPPQRSIDKPFRLCVSDVFKDQGSGFCITGKIEAGYIQTGDRLLAMPP
  NETCTVKGITLHDEPVDWAAAGDHVSLTLVGMDIIKINVGCIFCGPKVPIKACTRFRARILIFNIEIPITKGFPV
  LLHYQTVSEPAVIKRLISVLNKSTGEVTKKKPKFLTKGQNALVELQTQRPIALELYKDFKELGRFMLRYGGSTIA
  AGVVTEIKE

• Structural information:
  • Protein Domains: (258..48-)
    (/note="tr-type-G)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01059"-)
  • Interpro: IPR004161  IPR015033  IPR037189  IPR027417  IPR000795   IPR009000  IPR009001  IPR004160  
  • Prosite: PS51722
  • PDB: 5LZW 5LZX 5LZY 5LZZ
  • PDBsum: 5LZW 5LZX 5LZY 5LZZ
  • STRING: ENSP00000356811
• Other Databases: GeneCards:  HBS1L  Malacards:  HBS1L

KEGG pathways

Pathway id	Pathway name
hsa03015	mRNA surveillance pathway
hsa05134	Legionellosis

Diseases

Associated diseases	References
Beta thalassemia	PMID:18839276
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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