C1QL1 (complement C1q like 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 10882
Gene name Complement C1q like 1
Gene symbol C1QL1
Synonyms (NCBI Gene)
C1QRFC1QTNF14CRFCTRP14
Chromosome 17
Chromosome location 17q21.31
miRNA miRNA information provided by mirtarbase database.
11
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (11)
miRTarBase ID miRNA Experiments Reference
MIRT842181 hsa-miR-1293 CLIP-seq
MIRT842182 hsa-miR-3126-5p CLIP-seq
MIRT842183 hsa-miR-3178 CLIP-seq
MIRT842184 hsa-miR-3656 CLIP-seq
MIRT842185 hsa-miR-4419a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0005102 Function Signaling receptor binding IEA
GO:0005515 Function Protein binding IPI 19666007
GO:0005576 Component Extracellular region IEA
GO:0005581 Component Collagen trimer IEA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611586 24182 ENSG00000131094
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75973
Protein name C1q-related factor (C1q and tumor necrosis factor-related protein 14) (C1q/TNF-related protein 14) (Complement component 1 Q subcomponent-like 1)
Protein function May regulate the number of excitatory synapses that are formed on hippocampus neurons. Has no effect on inhibitory synapses (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01391 Collagen 65 → 121 Collagen triple helix repeat (20 copies) Repeat
PF00386 C1q 131 → 255 C1q domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brainstem.
Sequence
Sequence length 258
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (3)
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
DRY EYE SYNDROME — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SJOGREN SYNDROME — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (47)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenoma Adenoma BEFREE 2118538
★★★★★
★☆☆☆☆
Found in Text Mining only
Anorexia Anorexia BEFREE 29574216
★★★★★
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia BEFREE 1597149
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 20368512, 20383137, 25051447, 30217435, 30499109, 30979915
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 20368512, 20383137, 25051447, 30217435, 30499109, 30979915
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 28390681, 31515731
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 31127466
★★★★★
★☆☆☆☆
Found in Text Mining only
Bulimia Bulimia BEFREE 28576418, 28833350
★★★★★
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases BEFREE 30991880, 31626760
★★★★★
★☆☆☆☆
Found in Text Mining only
Choriocarcinoma Choriocarcinoma BEFREE 8770924
★★★★★
★☆☆☆☆
Found in Text Mining only