Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	85444
Gene name	Leucine rich repeat and coiled-coil centrosomal protein 1
Gene symbol	LRRCC1
Synonyms (NCBI Gene)	CLERCCLERKSAP2VFL1
Chromosome	8
Chromosome location	8q21.2
Summary	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.

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miRTarBase ID	miRNA	Experiments	Reference
MIRT024691	hsa-miR-215-5p	Microarray	19074876
MIRT026773	hsa-miR-192-5p	Microarray	19074876
MIRT1120792	hsa-miR-338-5p	CLIP-seq
MIRT2264582	hsa-miR-3168	CLIP-seq
MIRT2264583	hsa-miR-4662a-3p	CLIP-seq
MIRT2264584	hsa-miR-607	CLIP-seq
MIRT2563522	hsa-miR-105	CLIP-seq
MIRT2563523	hsa-miR-3140-3p	CLIP-seq
MIRT2563524	hsa-miR-3671	CLIP-seq
MIRT2264584	hsa-miR-607	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005814	Component	Centriole	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0051301	Process	Cell division	IEA

MIM	HGNC	e!Ensembl
617791	29373	ENSG00000133739

Protein Protein information from UniProt database. Download as csv Download as pdf
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.	Q9C099
Protein name	Leucine-rich repeat and coiled-coil domain-containing protein 1 (Centrosomal leucine-rich repeat and coiled-coil domain-containing protein)
Protein function	Required for the organization of the mitotic spindle. Maintains the structural integrity of centrosomes during mitosis.
Family and domains
Sequence	MEAAAAVVAAEAEVENEDGDSSCGDVCFMDKGLQSISELSLDSTLHAVNLHCNNISKIEA IDHIWNLQHLDLSSNQISRIEGLNTLTKLCTLNLSCNLITKVEGLEELINLTRLNVSYNH IDDLSGLIPLHGIKHKLRYIDLHSNRIDSIHHLLQCMVGLHFLTNLILEKDGDDNPVCRL PGYRAVILQTLPQLRILDCKNIFGEPVNLTEINSSQLQCLEGLLDNLVSSDSPLNISEDE IIDRMPVITAPIDELVPLEQFASTPSDAVLTSFMSVCQSSEPEKNNHENDLQNEIKLQKL DDQILQLLNETSNSIDNVLEKDPRPKRDTDITSESDYGNRKECNRKVPRRSKIPYDAKTI QTIKHHNKNYNSFVSCNRKMKPPYLKELYVSSSLANCPMLQESEKPKTEIIKVDQSHSED NTYQSLVEQLDQEREKRWRAEQAENKLMDYIDELHKHANEKEDIHSLALLTTDRLKEIIF RERNSKGQLEVMVHKLQNEIKKLTVELMKAKDQQEDHLKHLRTLEKTLEKMERQKRQQQA AQIRLIQEVELKASAADREIYLLRTSLHREREQAQQLHQLLALKEQEHRKELETREFFTD ADFQDALAKEIAKEEKKHEQMIKEYQEKIDVLSQQYMDLENEFRIALTVEARRFQDVKDG FENVATELAKSKHALIWAQRKENESSSLIKDLTCMVKEQKTKLAEVSKLKQETAANLQNQ INTLEILIEDDKQKSIQIELLKHEKVQLISELAAKESLIFGLRTERKVWGHELAQQGSSL AQNRGKLEAQIESLSRENECLRKTNESDSDALRIKCKIIDDQTETIRKLKDCLQEKDEHI KRLQEKITEIEKCTQEQLDEKSSQLDEVLEKLERHNERKEKLKQQLKGKEVELEEIRKAY STLNRKWHDKGELLCHLETQVKEVKEKFENKEKKLKAERDKSIELQKNAMEKLHSMDDAF KRQVDAIVEAHQAEIAQLANEKQKCIDSANLKVHQIEKEMRELLEETCKNKKTMEAKIKQ LAFALNEIQQDM
Sequence length	1032
Interactions	View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Joubert syndrome and related disorders	Pathogenic	rs886039794	RCV000256435	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CARCINOMA, BASAL CELL	—	CTD	36428691	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (7)
Ciliopathies	Ciliopathy	Pubtator	27894351	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic Dysplasia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratosis Follicularis	Keratosis Follicularis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31630914		★★★★★ ★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

LRRCC1 (leucine rich repeat and coiled-coil centrosomal protein 1)

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