Gene Gene information from NCBI Gene database.
Entrez ID 51279
Gene name Complement C1r subcomponent like
Gene symbol C1RL
Synonyms (NCBI Gene)
C1RL1C1RLPC1r-LPCLSPa
Chromosome 12
Chromosome location 12p13.31
miRNA miRNA information provided by mirtarbase database.
410
miRTarBase ID miRNA Experiments Reference
MIRT720565 hsa-miR-483-3p HITS-CLIP 19536157
MIRT720564 hsa-miR-5590-5p HITS-CLIP 19536157
MIRT720563 hsa-miR-4659a-5p HITS-CLIP 19536157
MIRT720562 hsa-miR-4659b-5p HITS-CLIP 19536157
MIRT720561 hsa-miR-4776-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0004252 Function Serine-type endopeptidase activity IBA
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space HDA 16502470
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608974 21265 ENSG00000139178
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NZP8
Protein name Complement C1r subcomponent-like protein (C1r-LP) (C1r-like protein) (EC 3.4.21.-) (C1r-like serine protease analog protein) (CLSPa)
Protein function Mediates the proteolytic cleavage of HP/haptoglobin in the endoplasmic reticulum.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00431 CUB 40 154 CUB domain Domain
PF00089 Trypsin 245 479 Trypsin Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in placenta, liver, kidney, pancreas, moderately in lung, spleen, prostate, ovary, colon, and PBL, and weakly in heart, skeletal muscle, thymus, testis, and small intestine. Expressed in PC-3 (prostate adenocarcinoma)
Sequence
Sequence length 487
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Endometrial Neoplasms Associate 36807337
★☆☆☆☆
Found in Text Mining only
Glioblastoma Stimulate 32993564
★☆☆☆☆
Found in Text Mining only
Glioblastoma Associate 38019838
★☆☆☆☆
Found in Text Mining only
Glioma Associate 32993564
★☆☆☆☆
Found in Text Mining only
Lymphoma B Cell Marginal Zone Associate 22170086
★☆☆☆☆
Found in Text Mining only
Lymphoma Large B Cell Diffuse Inhibit 22170086
★☆☆☆☆
Found in Text Mining only
Lymphoma Large B Cell Diffuse Associate 22170086
★☆☆☆☆
Found in Text Mining only
Lymphoma Non Hodgkin Inhibit 22170086
★☆☆☆☆
Found in Text Mining only
Lymphoma Non Hodgkin Associate 22170086
★☆☆☆☆
Found in Text Mining only
Melanoma Inhibit 37227816
★☆☆☆☆
Found in Text Mining only