C1QL1

Chr 17

complement C1q like 1

Also known as: C1QRF, C1QTNF14, CRF, CTRP14

NCBI Gene: 10882ENSG00000131094UniProt: O75973

Predicted to enable signaling receptor binding activity. Predicted to be involved in locomotory behavior. Predicted to act upstream of or within maintenance of synapse structure; motor learning; and neuron remodeling. Predicted to be located in several cellular components, including climbing fiber; extracellular region; and presynapse. Predicted to be part of collagen trimer. Predicted to be active in cerebellar climbing fiber to Purkinje cell synapse and synaptic cleft. [provided by Alliance of Genome Resources, Apr 2025]

0
Active trials
54
ClinVar variants
11
Pathogenic / LP
1.3
Missense Z
1.91
LOEUF
11
Pubs (2 yr)
Clinical Summary— C1QL1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
11 Pathogenic / Likely Pathogenic· 42 VUS of 54 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.91LOEUF
pLI 0.000
Z-score -0.72
OE 1.34 (0.73–1.91)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.25Z-score
OE missense 0.70 (0.59–0.83)
96 obs / 137.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.1.34 (0.73–1.91)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.70 (0.59–0.83)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.79
0≤1.21.6
LoF obs/exp: 7 / 5.2Missense obs/exp: 96 / 137.3Syn Z: 1.34

ClinVar Variant Classifications

54 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic11
VUS42
Likely Benign1
11
Pathogenic
42
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
11
0
11
Likely Pathogenic
0
0
0
0
0
VUS
0
40
2
0
42
Likely Benign
0
1
0
0
1
Benign
0
0
0
0
0
Total04113054

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

C1QL1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
C1QL1 regulates auditory nerve fibers growth via ELMO1-DOCK180-RAC1 integrin.
Chen M et al.·Acta Otolaryngol
2025
Sequential fate-switches in stem-like cells drive the tumorigenic trajectory from human neural stem cells to malignant glioma.
Wang X et al.·Cell Res
2021
C1ql1/Ctrp14 and C1ql4/Ctrp11 promote angiogenesis of endothelial cells through activation of ERK1/2 signal pathway.
Liu F et al.·Mol Cell Biochem
2017
Exploring potential therapeutic targets for cardiomyopathy: A proteome-wide Mendelian randomization analysis.
Ji Y et al.·Medicine (Baltimore)
2025
Identification of Novel Molecular Markers of Human Th17 Cells.
Sałkowska A et al.·Cells
2020
Identification of Treg-related prognostic molecular subtypes and individualized characteristics in clear cell renal cell carcinoma through single-cell transcriptomes and bulk RNA sequencing.
Weng KQ et al.·Int Immunopharmacol
2024
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Molecular subtyping of renal clear cell carcinoma based on prognostic RASSF family genes and validation of C1QL1 as a key prognostic marker
Liu JY et al.·Sci Rep
2025
Mapping and targeting of C1ql1-expressing cells in the mouse
Moghimyfiroozabad S et al.·Sci Rep
2023Functional
C1ql1 expression in oligodendrocyte progenitor cells promotes oligodendrocyte differentiation.
Altunay ZM et al.·FEBS J
2024
Role of CTRP14/C1QL1 in motor coordination and learning across the lifespan.
Chen F et al.·Physiol Behav
2025
C1ql1 is expressed in adult outer hair cells of the cochlea in a tonotopic gradient
Biswas J et al.·PLoS One
2021
A new player in the game: identification of C1ql1 as a novel factor driving OPC differentiation.
Van Broeckhoven J et al.·FEBS J
2024
Deficiency of C1QL1 Reduced Murine Ovarian Follicle Reserve Through Intraovarian and Endocrine Control.
Lu X et al.·Endocrinology
2022
Top 7 full-text resultsSearch PubTator3 ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients