C1QL1 (complement C1q like 1)

Gene

• Entrez ID: 10882
• Gene name: Complement C1q like 1
• Gene symbol: C1QL1
• Synonyms (NCBI Gene): C1QRF, C1QTNF14, CRF, CTRP14
• Chromosome: 17
• Chromosome location: 17q21.31

miRNA

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
MIRT842186	hsa-miR-4483	CLIP-seq
MIRT842187	hsa-miR-4510	CLIP-seq
MIRT842188	hsa-miR-4710	CLIP-seq
MIRT842189	hsa-miR-4783-5p	CLIP-seq
MIRT1949600	hsa-miR-541	CLIP-seq
MIRT1949601	hsa-miR-654-5p	CLIP-seq

Gene ontology (GO)

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
GO:0007626	Process	Locomotory behavior	NAS	9878755
GO:0016322	Process	Neuron remodeling	IEA
GO:0043083	Component	Synaptic cleft	IEA
GO:0044301	Component	Climbing fiber	IEA
GO:0061743	Process	Motor learning	IEA
GO:0098793	Component	Presynapse	IEA
GO:0099558	Process	Maintenance of synapse structure	IEA
GO:0150053	Component	Cerebellar climbing fiber to Purkinje cell synapse	IEA
GO:1905806	Process	Regulation of synapse pruning	IEA

Other IDs

• MIM: 611586
• HGNC: 24182
• e!Ensembl: ENSG00000131094

Protein

• UniProt ID: 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:

  MLLVLVVLIPVLVSSGGPEGHYEMLGTCRMVCDPYPARGPGAGARTDGGDALSEQSGAPP
  PSTLVQGPQGKPGRTGKPGPPGPPGDPGPPGPVGPPGEKGEPGKPGPPGLPGAGGSGAIS
  TATYTTVPRVAFYAGLKNPHEGYEVLKFDDVVTNLGNNYDAASGKFTCNIPGTYFFTYHV
  LMRGGDGTSMWADLCKNGQVRASAIAQDADQNYDYASNSVILHLDAGDEVFIKLDGGKAH
  GGNSNKYSTFSGFIIYSD

• Sequence length: 258

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)

Unknown / Other Associations
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

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Colorectal Neoplasms	Associate	29257257	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Associate	29321030	★☆☆☆☆ Found in Text Mining only