IRAK1BP1

protein-coding

interleukin 1 receptor associated kinase 1 binding protein 1

Gene summary

Predicted to enable signaling adaptor activity. Predicted to be involved in positive regulation of canonical NF-kappaB signal transduction. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001010844.4

Inheritance

—

ClinVar variants

U:42B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.83

Max pathogenic AF

—

Genomic locus

chr6:78,867,551-78,946,440

External References & Databases

Ensembl (ENSG00000146243)

Transcript & Mutation Effects

hg38 • Region Span ~78.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to IRAK1BP1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 42

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001010844.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			42 clinvar			42
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	42	1	0	43

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 22 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001010844.4	RefSeq	NP_001010844.1	4	MANE Select
ENST00000369940.7	Ensembl	ENSP00000358956.1	4	MANE Select
ENST00000606868.5	Ensembl	ENSP00000475570.1	4	Standard
ENST00000606929.1	Ensembl	ENSP00000475395.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

immune response
I-kappaB kinase/NF-kappaB signaling

Molecular Function

protein binding

Cellular Component

nucleus
cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000369940
Coding exons: 4
Length: 78969
Individuals with no LoFs: 125562
Homozygous LoFs: 2
Heterozygous LoFs: 184
Defined: 125748
p: 0.000740

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.598	159	139	1.14	0.00000652	1664
Missense (PolyPhen)		53	51.332	1.0325		586
Synonymous	-0.130	53	51.8	1.02	0.00000234	516
Loss of Function	0.560	10	12.1	0.826	5.84e-7	133

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00025	0.00025	rare
Latino/Admixed American	0.0024	0.0021	notable
Ashkenazi Jewish	0.00030	0.00030	rare
East Asian	0.00017	0.00016	rare
Finnish	0.0031	0.0031	notable
European (Non-Finnish)	0.00017	0.00017	rare
South Asian	0.00043	0.00039	rare
Other	0.00066	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Component of the IRAK1-dependent TNFRSF1A signaling pathway that leads to NF-kappa-B activation and is required for cell survival. Acts by enhancing RELA transcriptional activity (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.112

Intolerance Scores

LoFtool: 0.338
RVIS EVS: 0.24
RVIS percentile EVS: 69.21

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.564

Gene Damage Prediction

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