• Gene id: 55692

Gene Summary

• Gene Symbol: LUC7L   Gene   UCSC   Ensembl
• Aliases: LUC7B1, Luc7, SR+89, hLuc7B1
• Gene name: LUC7 like
• Alternate names: putative RNA-binding protein Luc7-like 1, putative SR protein LUC7B1, sarcoplasmic reticulum protein LUC7B1,
• Gene location: 16p13.3 (229481: 188968)     Exons: 26     NC_000016.10
• Gene summary(Entrez): The LUC7L gene may represent a mammalian heterochromatic gene, encoding a putative RNA-binding protein similar to the yeast Luc7p subunit of the U1 snRNP splicing complex that is normally required for 5-prime splice site selection (Tufarelli et al., 2001
• OMIM: 607782

Protein Summary

• Protein general information: Q9NQ29  
  • Name: Putative RNA binding protein Luc7 like 1 (Putative SR protein LUC7B1) (SR+89)
  • Length: 371  
  • Mass: 43728
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MSAQAQMRALLDQLMGTARDGDETRQRVKFTDDRVCKSHLLDCCPHDILAGTRMDLGECTKIHDLALRADYEIAS
  KERDLFFELDAMDHLESFIAECDRRTELAKKRLAETQEEISAEVSAKAEKVHELNEEIGKLLAKAEQLGAEGNVD
  ESQKILMEVEKVRAKKKEAEEEYRNSMPASSFQQQKLRVCEVCSAYLGLHDNDRRLADHFGGKLHLGFIQIREKL
  DQLRKTVAEKQEKRNQDRLRRREEREREERLSRRSGSRTRDRRRSRSRDRRRRRSRSTSRERRKLSRSRSRDRHR
  RHRSRSRSHSRGHRRASRDRSAKYKFSRERASREESWESGRSERGPPDWRLESSNGKMASRRSEEKEAGEI

• Structural information:
  • Interpro: IPR004882  
  • STRING: ENSP00000293872
• Other Databases: GeneCards:  LUC7L  Malacards:  LUC7L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005685	U1 snRNP	IBA	cellular component
GO:0071004	U2-type prespliceosome	IBA	cellular component
GO:0003729	mRNA binding	IBA	molecular function
GO:0006376	mRNA splice site selection	IBA	biological process
GO:0003729	mRNA binding	IEA	molecular function
GO:0006376	mRNA splice site selection	IEA	biological process
GO:0005685	U1 snRNP	IEA	cellular component
GO:0042802	identical 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:0050733	RS domain binding	IEA	molecular function
GO:0045843	negative regulation of striated muscle tissue development	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R