• Gene id: 85444

Gene Summary

• Gene Symbol: LRRCC1   Gene   UCSC   Ensembl
• Aliases: CLERC, CLERK, SAP2, VFL1
• Gene name: leucine rich repeat and coiled-coil centrosomal protein 1
• Alternate names: leucine-rich repeat and coiled-coil domain-containing protein 1, centrosomal leucine-rich repeat and coiled-coil domain-containing protein, sodium channel associated protein 2, variable number of flagella 1 homolog,
• Gene location: 8q21.2 (85107148: 85146079)     Exons: 20     NC_000008.11
• Gene summary(Entrez): This gene encodes a centrosomal protein that maintains the structural integrity of the centrosome and plays a key role in mitotic spindle formation. The encoded protein contains an N-terminal leucine-rich repeat domain and a C-terminal coiled-coil domain.
• OMIM: 610518

Protein Summary

• Protein general information: Q9C099  
  • Name: Leucine rich repeat and coiled coil domain containing protein 1 (Centrosomal leucine rich repeat and coiled coil domain containing protein)
  • Length: 1032  
  • Mass: 119596
• Sequence:

  MEAAAAVVAAEAEVENEDGDSSCGDVCFMDKGLQSISELSLDSTLHAVNLHCNNISKIEAIDHIWNLQHLDLSSN
  QISRIEGLNTLTKLCTLNLSCNLITKVEGLEELINLTRLNVSYNHIDDLSGLIPLHGIKHKLRYIDLHSNRIDSI
  HHLLQCMVGLHFLTNLILEKDGDDNPVCRLPGYRAVILQTLPQLRILDCKNIFGEPVNLTEINSSQLQCLEGLLD
  NLVSSDSPLNISEDEIIDRMPVITAPIDELVPLEQFASTPSDAVLTSFMSVCQSSEPEKNNHENDLQNEIKLQKL
  DDQILQLLNETSNSIDNVLEKDPRPKRDTDITSESDYGNRKECNRKVPRRSKIPYDAKTIQTIKHHNKNYNSFVS
  CNRKMKPPYLKELYVSSSLANCPMLQESEKPKTEIIKVDQSHSEDNTYQSLVEQLDQEREKRWRAEQAENKLMDY
  IDELHKHANEKEDIHSLALLTTDRLKEIIFRERNSKGQLEVMVHKLQNEIKKLTVELMKAKDQQEDHLKHLRTLE
  KTLEKMERQKRQQQAAQIRLIQEVELKASAADREIYLLRTSLHREREQAQQLHQLLALKEQEHRKELETREFFTD
  ADFQDALAKEIAKEEKKHEQMIKEYQEKIDVLSQQYMDLENEFRIALTVEARRFQDVKDGFENVATELAKSKHAL
  IWAQRKENESSSLIKDLTCMVKEQKTKLAEVSKLKQETAANLQNQINTLEILIEDDKQKSIQIELLKHEKVQLIS
  ELAAKESLIFGLRTERKVWGHELAQQGSSLAQNRGKLEAQIESLSRENECLRKTNESDSDALRIKCKIIDDQTET
  IRKLKDCLQEKDEHIKRLQEKITEIEKCTQEQLDEKSSQLDEVLEKLERHNERKEKLKQQLKGKEVELEEIRKAY
  STLNRKWHDKGELLCHLETQVKEVKEKFENKEKKLKAERDKSIELQKNAMEKLHSMDDAFKRQVDAIVEAHQAEI
  AQLANEKQKCIDSANLKVHQIEKEMRELLEETCKNKKTMEAKIKQLAFALNEIQQDM

• Structural information:
  • Protein Domains: (175..21-)
    (/note="LRRCT"-)
  • Interpro: IPR001611  IPR025875  IPR032675  
  • Prosite: PS51450
  • STRING: ENSP00000353538
• Other Databases: GeneCards:  LRRCC1  Malacards:  LRRCC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0005813	centrosome	IBA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0051301	cell division	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005814	centriole	IEA	cellular component
GO:0005813	centrosome	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray