CXCL1

Chr 4

C-X-C motif chemokine ligand 1

Also known as: FSP, GRO1, GROa, MGSA, MGSA-a, NAP-3, SCYB1

NCBI Gene: 2919ENSG00000163739UniProt: P09341

This antimicrobial gene encodes a member of the CXC subfamily of chemokines. The encoded protein is a secreted growth factor that signals through the G-protein coupled receptor, CXC receptor 2. This protein plays a role in inflammation and as a chemoattractant for neutrophils. Aberrant expression of this protein is associated with the growth and progression of certain tumors. A naturally occurring processed form of this protein has increased chemotactic activity. Alternate splicing results in coding and non-coding variants of this gene. A pseudogene of this gene is found on chromosome 4. [provided by RefSeq, Sep 2014]

ResearchGenerating clinical summary…
3
Active trials
816
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.18
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.18LOEUF
pLI 0.118
Z-score 1.33
OE 0.38 (0.15–1.18)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.02Z-score
OE missense 0.99 (0.81–1.23)
61 obs / 61.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.38 (0.15–1.18)
0≤0.351.4
Missense OE?0.99 (0.81–1.23)
0≤0.61.4
Synonymous OE?1.65
0≤1.21.6
LoF obs/exp: 2 / 5.3Missense obs/exp: 61 / 61.3Syn Z: -2.67

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CXCL1 · protein map & ClinVar variants

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

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