• Gene id: 167691

Gene Summary

• Gene Symbol: LCA5   Gene   UCSC   Ensembl
• Aliases: C6orf152
• Gene name: lebercilin LCA5
• Alternate names: lebercilin, LCA5, lebercilin, epididymis secretory sperm binding protein, leber congenital amaurosis 5 protein,
• Gene location: 6q14.1 (79537429: 79484990)     Exons: 9     NC_000006.12
• Gene summary(Entrez): This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009]
• OMIM: 615383

Protein Summary

• Protein general information: Q86VQ0  
  • Name: Lebercilin (Leber congenital amaurosis 5 protein)
  • Length: 697  
  • Mass: 80554
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MGERAGSPGTDQERKAGKHHYSYLSDFETPQSSGRSSLVSSSPASVRRKNPKRQTSDGQVHHQAPRKPSPKGLPN
  RKGVRVGFRSQSLNREPLRKDTDLVTKRILSARLLKINELQNEVSELQVKLAELLKENKSLKRLQYRQEKALNKF
  EDAENEISQLIFRHNNEITALKERLRKSQEKERATEKRVKDTESELFRTKFSLQKLKEISEARHLPERDDLAKKL
  VSAELKLDDTERRIKELSKNLELSTNSFQRQLLAERKRAYEAHDENKVLQKEVQRLYHKLKEKERELDIKNIYSN
  RLPKSSPNKEKELALRKNAACQSDFADLCTKGVQTMEDFKPEEYPLTPETIMCYENKWEEPGHLTLDLQSQKQDR
  HGEAGILNPIMEREEKFVTDEELHVVKQEVEKLEDEWEREELDKKQKEKASLLEREEKPEWETGRYQLGMYPIQN
  MDKLQGEEEERLKREMLLAKLNEIDRELQDSRNLKYPVLPLLPDFESKLHSPERSPKTYRFSESSERLFNGHHLQ
  DISFSTPKGEGQNSGNVRSPASPNEFAFGSYVPSFAKTSERSNPFSQKSSFLDFQRNSMEKLSKDGVDLITRKEK
  KANLMEQLFGASGSSTISSKSSDPNSVASSKGDIDPLNFLPGNKGSRDQEHDEDEGFFLSEGRSFNPNRHRLKHA
  DDKPAVKAADSVEDEIEEVALR

• Structural information:
  • Interpro: IPR026684  IPR026188  IPR028933  
  • STRING: ENSP00000376686
• Other Databases: GeneCards:  LCA5  Malacards:  LCA5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005930	axoneme	IBA	cellular component
GO:0042073	intraciliary transport	IBA	biological process
GO:0032391	photoreceptor connecting cilium	IDA	cellular component
GO:0045494	photoreceptor cell maintenance	ISS	biological process
GO:0036064	ciliary basal body	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0044877	protein-containing complex binding	IDA	molecular function
GO:0005929	cilium	IDA	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: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:0036064	ciliary basal body	IEA	cellular component
GO:0032391	photoreceptor connecting cilium	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component

Diseases

Associated diseases	References
Leber congenital amaurosis	KEGG:H00837
Leber congenital amaurosis	KEGG:H00837
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq