LURAP1

Summary

LURAP1 (leucine rich adaptor protein 1, HGNC:32327) is a protein-coding gene on chromosome 1p34.1, encoding Leucine rich adaptor protein 1 (Q96LR2). Acts as an activator of the canonical NF-kappa-B pathway and drive the production of pro-inflammatory cytokines.

Involved in positive regulation of canonical NF-kappaB signal transduction and positive regulation of cytokine production. Located in cytosol and intracellular membrane-bounded organelle.

Source: NCBI Gene 541468 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 41 total — 1 pathogenic
• MANE Select transcript: NM_001013615

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32327
Approved symbol	LURAP1
Name	leucine rich adaptor protein 1
Location	1p34.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ25163, LRAP35a
Ensembl gene	ENSG00000171357
Ensembl biotype	protein_coding
OMIM	616129
Entrez	541468

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000371980

RefSeq mRNA: 1 — MANE Select: NM_001013615 NM_001013615

CCDS: CCDS30703

Canonical transcript exons

ENST00000371980 — 2 exons

Exon	Start	End
ENSE00001141698	46203334	46203624
ENSE00001456603	46219699	46221256

Expression profiles

Bgee: expression breadth ubiquitous, 161 present calls, max score 81.02.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.1871 / max 158.9461, expressed in 919 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
2728	3.1509	917
2727	0.0362	10

Top tissues by expression

242 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
C1 segment of cervical spinal cord	UBERON:0006469	81.02	gold quality
spinal cord	UBERON:0002240	79.68	gold quality
descending thoracic aorta	UBERON:0002345	79.33	gold quality
right lobe of thyroid gland	UBERON:0001119	78.79	gold quality
left lobe of thyroid gland	UBERON:0001120	78.60	gold quality
thyroid gland	UBERON:0002046	78.08	gold quality
thoracic aorta	UBERON:0001515	77.66	gold quality
ascending aorta	UBERON:0001496	77.63	gold quality
aorta	UBERON:0000947	77.16	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.13	gold quality
popliteal artery	UBERON:0002250	76.90	gold quality
tibial artery	UBERON:0007610	76.88	gold quality
endothelial cell	CL:0000115	76.09	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	75.70	gold quality
right coronary artery	UBERON:0001625	75.27	gold quality
prefrontal cortex	UBERON:0000451	75.24	gold quality
heart left ventricle	UBERON:0002084	75.19	gold quality
cardiac ventricle	UBERON:0002082	75.00	gold quality
apex of heart	UBERON:0002098	74.78	gold quality
tibial nerve	UBERON:0001323	74.71	gold quality
mucosa of stomach	UBERON:0001199	74.45	gold quality
cardiac muscle of right atrium	UBERON:0003379	74.43	gold quality
right hemisphere of cerebellum	UBERON:0014890	74.39	gold quality
left ventricle myocardium	UBERON:0006566	74.30	gold quality
cerebellar cortex	UBERON:0002129	74.18	gold quality
cerebellar hemisphere	UBERON:0002245	74.11	gold quality
metanephros cortex	UBERON:0010533	73.94	gold quality
myocardium	UBERON:0002349	73.72	gold quality
left coronary artery	UBERON:0001626	73.63	gold quality
cerebellum	UBERON:0002037	73.57	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.55

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

66 targeting LURAP1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-7845-5P	99.88	64.88	771
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-1283	99.69	72.42	3009
HSA-MIR-452-5P	99.65	69.63	1762
HSA-MIR-4676-3P	99.65	69.31	1733
HSA-MIR-892C-3P	99.65	69.38	1745
HSA-MIR-1252-3P	99.55	67.71	2862
HSA-MIR-6727-3P	99.49	65.92	1333
HSA-MIR-372-5P	99.41	69.11	2299
HSA-MIR-4722-3P	99.35	65.22	1099
HSA-MIR-449B-3P	99.20	67.24	1047
HSA-MIR-485-5P	99.10	64.78	1889
HSA-MIR-6884-5P	99.10	64.50	1987
HSA-MIR-3675-3P	99.09	67.70	968

Literature-anchored findings (GeneRIF, showing 2)

• C1orf190 can activate NF-kappaB, drive production of cytokines, and promote the antigen-presenting function and priming ability of dendritic cells. (PMID:21048106)
• Cyclical phosphorylation of LRAP35a and CLASP2 by GSK3beta and CK1delta regulates EB1-dependent MT dynamics in cell migration. (PMID:34525355)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	lurap1	ENSDARG00000115301
mus_musculus	Lurap1	ENSMUSG00000028701
rattus_norvegicus	Lurap1	ENSRNOG00000085055

Paralogs (1): LURAP1L (ENSG00000153714)

Protein

Protein identifiers

Leucine rich adaptor protein 1 — Q96LR2 (reviewed: Q96LR2)

Alternative names: Leucine repeat adapter protein 35A

All UniProt accessions (1): Q96LR2

UniProt curated annotations — full annotation on UniProt →

Function. Acts as an activator of the canonical NF-kappa-B pathway and drive the production of pro-inflammatory cytokines. Promotes the antigen (Ag)-presenting and priming function of dendritic cells via the canonical NF-kappa-B pathway. In concert with MYO18A and CDC42BPA/CDC42BPB, is involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration. Activates CDC42BPA/CDC42BPB and targets it to actomyosin through its interaction with MYO18A, leading to MYL9/MLC2 phosphorylation and MYH9/MYH10-dependent actomyosin assembly in the lamella.

Subunit / interactions. Forms a tripartite complex with CDC42BPA/CDC42BPB and MYO18A acting as an adapter connecting both. Its binding to CDC42BPA/CDC42BPB results in their activation by abolition of their negative autoregulation. Interacts with CDC42BPA and CDC42BPB.

Subcellular location. Cytoplasm.

RefSeq proteins (1): NP_001013633* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR037443	LURAP1	Family
IPR039499	LURA1/LRA25	Family

Pfam: PF14854

UniProt features (10 total): modified residue 4, repeat 2, region of interest 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96LR2-F1	60.05	0.15

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (4): 118, 126, 129, 213

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 42 (showing top): GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOBP_CYTOKINE_PRODUCTION, chr1p34, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_POSITIVE_REGULATION_OF_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, ZNF585B_TARGET_GENES, MIR616_5P, MIR371B_5P, MIR373_5P, GSE10239_MEMORY_VS_KLRG1INT_EFF_CD8_TCELL_UP, MIR513B_5P, MIR4723_5P, MIR519A_2_5P_MIR520B_5P

GO Biological Process (2): positive regulation of cytokine production (GO:0001819), positive regulation of canonical NF-kappaB signal transduction (GO:0043123)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): cytoplasm (GO:0005737), cytosol (GO:0005829)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
cytokine production	1
regulation of cytokine production	1
positive regulation of gene expression	1
positive regulation of multicellular organismal process	1
canonical NF-kappaB signal transduction	1
regulation of canonical NF-kappaB signal transduction	1
positive regulation of intracellular signal transduction	1
binding	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

338 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LURAP1	CDC42BPA	Q5VT25	988
LURAP1	MYO18A	Q92614	734
LURAP1	CDC42	P21181	543
LURAP1	FAM234B	A2RU67	497
LURAP1	ARL14	Q8N4G2	490
LURAP1	BLZF1	Q9H2G9	487
LURAP1	PLAGL2	Q9UPG8	419
LURAP1	RCN3	Q96D15	405
LURAP1	RNF181	Q9P0P0	399
LURAP1	ZC3H12D	A2A288	355
LURAP1	MAST2	Q6P0Q8	353
LURAP1	COG5	Q9UP83	349
LURAP1	CPN2	P22792	348
LURAP1	DMBX1	Q8NFW5	346
LURAP1	FAM89B	Q8N5H3	336

IntAct

99 interactions, top by confidence:

A	B	Type	Score
LURAP1	TXLNB	psi-mi:“MI:0915”(physical association)	0.830
TXLNB	LURAP1	psi-mi:“MI:0915”(physical association)	0.830
LURAP1	PRPF31	psi-mi:“MI:0915”(physical association)	0.720
PRPF31	LURAP1	psi-mi:“MI:0915”(physical association)	0.720
LURAP1	TPM3	psi-mi:“MI:0915”(physical association)	0.670
HAUS1	LURAP1	psi-mi:“MI:0915”(physical association)	0.670
LURAP1	HAUS1	psi-mi:“MI:0915”(physical association)	0.670
TPM3	LURAP1	psi-mi:“MI:0915”(physical association)	0.670
HGS	LURAP1	psi-mi:“MI:0915”(physical association)	0.670
LURAP1	AMOT	psi-mi:“MI:0915”(physical association)	0.660
SNAP29	LURAP1	psi-mi:“MI:0915”(physical association)	0.660
CSNK1D	LURAP1	psi-mi:“MI:0915”(physical association)	0.610
LURAP1	CSNK1D	psi-mi:“MI:0915”(physical association)	0.610
AMOT	LURAP1	psi-mi:“MI:0915”(physical association)	0.560
LURAP1	ZNF417	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (141): LURAP1 (Two-hybrid), LURAP1 (Two-hybrid), LURAP1 (Two-hybrid), LURAP1 (Two-hybrid), LURAP1 (Two-hybrid), LURAP1 (Two-hybrid), LURAP1 (Two-hybrid), LURAP1 (Two-hybrid), LURAP1 (Two-hybrid), LURAP1 (Two-hybrid), LURAP1 (Two-hybrid), LURAP1 (Two-hybrid), LURAP1 (Two-hybrid), LURAP1 (Two-hybrid), LURAP1 (Two-hybrid)

ESM2 similar proteins: A1L168, A1L3T7, A6NGS2, A6QQF7, D4A8G3, O15049, P0C7N2, P0C7N4, P17257, P58660, Q08AY9, Q0V7M8, Q0VDN7, Q14BJ1, Q2NL23, Q3KP66, Q3LUD3, Q3UNU4, Q4LEZ3, Q566R4, Q571B6, Q5BJW5, Q5ND29, Q5RFZ7, Q5XIS1, Q6NSJ2, Q6P1G6, Q6Q0N2, Q7TN12, Q7TSI1, Q811W1, Q8BL43, Q8C7U1, Q8IV03, Q8K1S6, Q8K2P1, Q8N137, Q8N5H3, Q8TE77, Q8WWL2

Diamond homologs: D4A8G3, Q5BJW5, Q8IV03, Q8K2P1, Q96LR2, Q9D6I9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

41 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	35
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1459647	NC_000001.10:g.(?46662483)(46671639_?)del	Pathogenic

SpliceAI

584 predictions. Top by Δscore:

Variant	Effect	Δscore
1:46219693:CCCCA:C	acceptor_loss	1.0000
1:46219694:CCCA:C	acceptor_loss	1.0000
1:46219695:CCA:C	acceptor_loss	1.0000
1:46219696:CAGGC:C	acceptor_loss	1.0000
1:46219697:A:AG	acceptor_gain	1.0000
1:46219697:AG:A	acceptor_gain	1.0000
1:46219698:G:GA	acceptor_gain	1.0000
1:46219698:GG:G	acceptor_gain	1.0000
1:46219698:GGC:G	acceptor_gain	1.0000
1:46219698:GGCT:G	acceptor_gain	1.0000
1:46203621:GCTG:G	donor_gain	0.9900
1:46203623:TGG:T	donor_loss	0.9900
1:46203625:G:GG	donor_gain	0.9900
1:46203625:G:T	donor_loss	0.9900
1:46203626:T:TC	donor_loss	0.9900
1:46203627:GA:G	donor_loss	0.9900
1:46217139:C:G	donor_gain	0.9900
1:46217145:A:T	donor_gain	0.9900
1:46219698:GGCTT:G	acceptor_gain	0.9900
1:46217157:G:GT	donor_gain	0.9800
1:46203474:GG:G	donor_gain	0.9700
1:46203475:GG:G	donor_gain	0.9700
1:46217144:G:GT	donor_gain	0.9700
1:46203628:AG:A	donor_loss	0.9600
1:46219689:A:AG	acceptor_gain	0.9600
1:46217152:C:T	donor_gain	0.9400
1:46219690:C:G	acceptor_gain	0.9400
1:46203629:G:C	donor_loss	0.9300
1:46217180:G:GT	donor_gain	0.9300
1:46217322:G:GT	donor_gain	0.9300

AlphaMissense

1541 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:46219816:A:C	S106R	0.992
1:46219818:C:A	S106R	0.992
1:46219818:C:G	S106R	0.992
1:46219837:A:C	S113R	0.990
1:46219839:C:A	S113R	0.990
1:46219839:C:G	S113R	0.990
1:46219739:T:C	L80P	0.989
1:46219828:A:C	S110R	0.989
1:46219830:T:A	S110R	0.989
1:46219830:T:G	S110R	0.989
1:46219727:T:C	I76T	0.987
1:46219774:T:A	W92R	0.985
1:46219774:T:C	W92R	0.985
1:46219936:A:C	S146R	0.985
1:46219938:C:A	S146R	0.985
1:46219938:C:G	S146R	0.985
1:46219718:A:T	D73V	0.983
1:46219765:G:C	A89P	0.983
1:46219706:T:C	L69P	0.982
1:46219727:T:G	I76S	0.982
1:46220212:T:C	F238L	0.981
1:46220214:C:A	F238L	0.981
1:46220214:C:G	F238L	0.981
1:46219718:A:C	D73A	0.980
1:46219730:T:C	L77P	0.979
1:46219813:A:C	S105R	0.977
1:46219815:C:A	S105R	0.977
1:46219815:C:G	S105R	0.977
1:46219804:A:C	S102R	0.976
1:46219806:T:A	S102R	0.976

dbSNP variants (sampled 300 via entrez): RS1000070305 (1:46221276 C>G), RS1000324694 (1:46201559 C>T), RS1000684728 (1:46220558 T>C), RS1000923988 (1:46201534 A>T), RS1001199591 (1:46209367 G>A), RS1001271545 (1:46209151 A>G), RS1001293653 (1:46215744 T>G), RS1001368942 (1:46215401 G>A), RS1001500098 (1:46202148 T>C), RS1001502483 (1:46208545 C>T), RS1001826474 (1:46202626 G>T), RS1001841816 (1:46220423 T>G), RS1002023472 (1:46214965 G>A), RS1002131362 (1:46214337 TTC>T), RS1002203971 (1:46207876 A>T)

Disease associations

OMIM: gene MIM:616129 | disease phenotypes: MIM:613151, MIM:613157

GenCC curated gene-disease

Mondo (2): muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 (MONDO:0013155), autosomal recessive limb-girdle muscular dystrophy type 2O (MONDO:0013161)

Orphanet (1): POMGNT1-related limb-girdle muscular dystrophy R15 (Orphanet:206564)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST005951_37	Body mass index	8.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects cotreatment, increases abundance	2
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
pentanal	decreases expression	1
Sunitinib	decreases expression	1
Arsenic	decreases expression, increases abundance, affects cotreatment	1
Benzo(a)pyrene	increases methylation	1
Doxorubicin	decreases expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Melphalan	decreases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Triclosan	decreases expression	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	decreases expression	1
p-Chloromercuribenzoic Acid	increases expression	1

Clinical trials (associated diseases)

1 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT05989620	Not specified	RECRUITING	Long-Term Development of Muscular Dystrophy Outcome Assessments