CXCR1

C-X-C motif chemokine receptor 1, the group of CD molecules|Interleukin receptors|C-X-C motif chemokine receptors

Basic information

Region (hg38): 2:218162841-218166962

Previous symbols: [ "CMKAR1", "IL8RA" ]

Links

ENSG00000163464 ∙ NCBI:3577 ∙ OMIM:146929 ∙ HGNC:6026 ∙ Uniprot:P25024 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CXCR1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CXCR1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				4	1	5
missense			30	3	3	36
nonsense						0
start loss			1			1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	31	7	4

Variants in CXCR1

This is a list of pathogenic ClinVar variants found in the CXCR1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-218164187-G-A			Benign (Jun 12, 2018)
2-218164211-T-C		not specified	Uncertain significance (May 11, 2022)
2-218164215-G-A		not specified	Uncertain significance (Jul 17, 2023)
2-218164274-C-T		CXCR1-related disorder	Likely benign (Jul 01, 2024)
2-218164297-G-A		CXCR1-related disorder	Likely benign (Jun 20, 2019)
2-218164337-A-G		not specified	Uncertain significance (Apr 25, 2022)
2-218164349-T-A		not specified	Uncertain significance (Jan 30, 2024)
2-218164356-C-T		not specified	Uncertain significance (Oct 26, 2022)
2-218164374-G-A		Susceptibility to HIV infection	Uncertain significance (Mar 30, 2021)
2-218164377-G-A			Likely benign (Aug 16, 2018)
2-218164385-C-G		Cholangiocarcinoma • CXCR1-related disorder	Benign; other (Dec 10, 2022)
2-218164431-C-T		not specified	Uncertain significance (Dec 20, 2023)
2-218164485-C-A		not specified	Uncertain significance (Jan 07, 2022)
2-218164495-T-C		CXCR1-related disorder	Likely benign (May 21, 2019)
2-218164533-G-T			Uncertain significance (-)
2-218164545-C-T		not specified	Uncertain significance (Feb 14, 2023)
2-218164579-G-T		CXCR1-related disorder	Benign (May 03, 2018)
2-218164604-C-T		Susceptibility to HIV infection	Uncertain significance (Mar 30, 2021)
2-218164605-G-A		not specified	Uncertain significance (Aug 17, 2021)
2-218164610-A-G		not specified	Uncertain significance (Mar 12, 2024)
2-218164617-G-A		not specified	Uncertain significance (Jun 07, 2023)
2-218164625-G-A		not specified	Uncertain significance (Jun 23, 2021)
2-218164682-G-C		not specified	Uncertain significance (Apr 26, 2024)
2-218164703-G-C		not specified	Uncertain significance (Dec 20, 2023)
2-218164721-G-C		not specified	Uncertain significance (Oct 13, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CXCR1	protein_coding	protein_coding	ENST00000295683	1	4151

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.03e-7	0.0996	125615	1	120	125736	0.000481

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.411	214	198	1.08	0.0000122	2270
Missense in Polyphen		57	53.197	1.0715		681
Synonymous	-1.42	101	84.4	1.20	0.00000467	759
Loss of Function	-0.594	9	7.27	1.24	4.05e-7	84

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00104	0.00104
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000220	0.000220
Middle Eastern	0.000109	0.000109
South Asian	0.00209	0.00206
Other	0.000654	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor to interleukin-8, which is a powerful neutrophils chemotactic factor. Binding of IL-8 to the receptor causes activation of neutrophils. This response is mediated via a G-protein that activate a phosphatidylinositol-calcium second messenger system. This receptor binds to IL-8 with a high affinity and to MGSA (GRO) with a low affinity.
• Pathway: Endocytosis - Homo sapiens (human);Chemokine signaling pathway - Homo sapiens (human);Epithelial cell signaling in Helicobacter pylori infection - Homo sapiens (human);Phospholipase D signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);GPCRs, Other;Peptide GPCRs;Differentiation Pathway;Hepatitis C and Hepatocellular Carcinoma;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Neutrophil degranulation;Signal Transduction;JAK STAT MolecularVariation 1;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Innate Immune System;Immune System;Chemokine receptors bind chemokines;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;JAK STAT MolecularVariation 2;JAK STAT pathway and regulation;G alpha (i) signalling events;GPCR signaling-G alpha i;GPCR downstream signalling;IL8- and CXCR1-mediated signaling events (Consensus)

Recessive Scores

• pRec: 0.307

Intolerance Scores

• loftool: 0.750
• rvis_EVS: 0.46
• rvis_percentile_EVS: 78.69

Haploinsufficiency Scores

• pHI: 0.0664
• hipred: N
• hipred_score: 0.166
• ghis: 0.488

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Cxcr1
• Phenotype: immune system phenotype; normal phenotype; hematopoietic system phenotype

Zebrafish Information Network

• Gene name: cxcr1
• Affected structure: blood island
• Phenotype tag: abnormal
• Phenotype quality: has fewer parts of type

Gene ontology

• Biological process: dendritic cell chemotaxis;chemotaxis;immune response;cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;calcium-mediated signaling;neutrophil chemotaxis;receptor internalization;interleukin-8-mediated signaling pathway;neutrophil degranulation;cell chemotaxis;chemokine-mediated signaling pathway
• Cellular component: plasma membrane;external side of plasma membrane;integral component of membrane;secretory granule membrane
• Molecular function: interleukin-8 receptor activity;G protein-coupled receptor activity;chemokine receptor activity;C-C chemokine receptor activity;chemokine binding;C-C chemokine binding;interleukin-8 binding