LURAP1L

Summary

LURAP1L (leucine rich adaptor protein 1 like, HGNC:31452) is a protein-coding gene on chromosome 9p23, encoding Leucine rich adaptor protein 1-like (Q8IV03).

Predicted to be involved in positive regulation of canonical NF-kappaB signal transduction.

Source: NCBI Gene 286343 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 77 total — 1 likely-pathogenic
• MANE Select transcript: NM_203403

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31452
Approved symbol	LURAP1L
Name	leucine rich adaptor protein 1 like
Location	9p23
Locus type	gene with protein product
Status	Approved
Aliases	MGC46502, FLJ38505, bA3L8.2, LRAP35b
Ensembl gene	ENSG00000153714
Ensembl biotype	protein_coding
OMIM	616130
Entrez	286343

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000319264, ENST00000489107

RefSeq mRNA: 1 — MANE Select: NM_203403 NM_203403

CCDS: CCDS6473

Canonical transcript exons

ENST00000319264 — 2 exons

Exon	Start	End
ENSE00001259535	12821386	12823060
ENSE00001259560	12775020	12776027

Expression profiles

Bgee: expression breadth ubiquitous, 222 present calls, max score 89.62.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.0360 / max 311.9629, expressed in 1233 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
96113	13.0470	1184
96112	0.7587	493
96114	0.2302	70

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
islet of Langerhans	UBERON:0000006	89.62	gold quality
calcaneal tendon	UBERON:0003701	89.59	gold quality
right lung	UBERON:0002167	89.34	gold quality
popliteal artery	UBERON:0002250	88.68	gold quality
tibial artery	UBERON:0007610	88.66	gold quality
upper lobe of left lung	UBERON:0008952	87.67	gold quality
upper lobe of lung	UBERON:0008948	87.29	gold quality
minor salivary gland	UBERON:0001830	86.80	gold quality
aorta	UBERON:0000947	86.49	gold quality
adrenal tissue	UBERON:0018303	86.17	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.14	gold quality
lung	UBERON:0002048	85.76	gold quality
gall bladder	UBERON:0002110	85.74	gold quality
muscle layer of sigmoid colon	UBERON:0035805	85.67	gold quality
left coronary artery	UBERON:0001626	85.31	gold quality
right lobe of liver	UBERON:0001114	85.17	gold quality
saliva-secreting gland	UBERON:0001044	84.98	gold quality
transverse colon	UBERON:0001157	84.10	gold quality
pancreas	UBERON:0001264	83.94	gold quality
right coronary artery	UBERON:0001625	83.92	gold quality
ascending aorta	UBERON:0001496	83.87	gold quality
thoracic aorta	UBERON:0001515	83.80	gold quality
coronary artery	UBERON:0001621	83.66	gold quality
stromal cell of endometrium	CL:0002255	83.48	gold quality
colon	UBERON:0001155	83.16	gold quality
descending thoracic aorta	UBERON:0002345	83.09	gold quality
cerebellar cortex	UBERON:0002129	83.02	gold quality
cerebellar hemisphere	UBERON:0002245	83.01	gold quality
large intestine	UBERON:0000059	82.98	gold quality
rectum	UBERON:0001052	82.87	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	41.57
E-HCAD-11	yes	23.94
E-ANND-3	yes	9.12

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

147 targeting LURAP1L, 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-5692A	100.00	74.40	6850
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548Y	99.94	71.28	3514
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Lurap1l	ENSMUSG00000048706
rattus_norvegicus	Lurap1l	ENSRNOG00000033740

Paralogs (1): LURAP1 (ENSG00000171357)

Protein

Protein identifiers

Leucine rich adaptor protein 1-like — Q8IV03 (reviewed: Q8IV03)

All UniProt accessions (1): Q8IV03

UniProt curated annotations — full annotation on UniProt →

Polymorphism. The poly-Gly region is polymorphic and the number of Gly varies in the population (from 9 to 12).

RefSeq proteins (1): NP_981948* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR037443	LURAP1	Family
IPR039499	LURA1/LRA25	Family

Pfam: PF14854

UniProt features (12 total): compositionally biased region 4, sequence variant 3, sequence conflict 2, chain 1, region of interest 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IV03-F1	66.08	0.24

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 (1): 1

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 109 (showing top): AAGCAAT_MIR137, GCANCTGNY_MYOD_Q6, GOZGIT_ESR1_TARGETS_DN, GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, AP4_Q6, CAGCTG_AP4_Q5, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP, SOX9_B1, WANG_LMO4_TARGETS_DN, ENGELMANN_CANCER_PROGENITORS_UP, RIGGI_EWING_SARCOMA_PROGENITOR_DN, TCF11_01, MYOD_Q6, IRF_Q6, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION

GO Biological Process (1): positive regulation of canonical NF-kappaB signal transduction (GO:0043123)

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

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
canonical NF-kappaB signal transduction	1
regulation of canonical NF-kappaB signal transduction	1
positive regulation of intracellular signal transduction	1
binding	1

Protein interactions and networks

STRING

450 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LURAP1L	SLC4A3	P48751	454
LURAP1L	UBE2G1	P62253	440
LURAP1L	HYCC2	Q8IXS8	405
LURAP1L	C10orf67	Q8IYJ2	394
LURAP1L	WSCD2	Q2TBF2	380
LURAP1L	ERICH6B	Q5W0A0	372
LURAP1L	ADGRL2	O95490	371
LURAP1L	FRMD7	Q6ZUT3	367
LURAP1L	REELD1	A0A1B0GV85	359
LURAP1L	ADGRL3	Q9HAR2	352
LURAP1L	KRTAP4-5	Q9BYR2	348
LURAP1L	CDH20	Q9HBT6	340
LURAP1L	WDR37	Q9Y2I8	336
LURAP1L	CACNA2D1	P54289	335
LURAP1L	AVL9	Q8NBF6	327

IntAct

24 interactions, top by confidence:

A	B	Type	Score
LURAP1L	PATZ1	psi-mi:“MI:0915”(physical association)	0.560
FAM161A	LURAP1L	psi-mi:“MI:0915”(physical association)	0.560
LURAP1L	TBCCD1	psi-mi:“MI:0915”(physical association)	0.560
LURAP1L	ATPAF2	psi-mi:“MI:0915”(physical association)	0.560
SDCBP	LURAP1L	psi-mi:“MI:0915”(physical association)	0.560
LURAP1L	PRPH	psi-mi:“MI:0915”(physical association)	0.560
CFTR	LURAP1L	psi-mi:“MI:0915”(physical association)	0.370
NOD2	LURAP1L	psi-mi:“MI:0915”(physical association)	0.370
LURAP1L	SHTN1	psi-mi:“MI:0914”(association)	0.350
PATZ1	LURAP1L	psi-mi:“MI:0915”(physical association)	0.000
FAM161A	LURAP1L	psi-mi:“MI:0915”(physical association)	0.000
TBCCD1	LURAP1L	psi-mi:“MI:0915”(physical association)	0.000
ATPAF2	LURAP1L	psi-mi:“MI:0915”(physical association)	0.000
SDCBP	LURAP1L	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (36): KIAA1598 (Affinity Capture-MS), NEFM (Affinity Capture-MS), SNTB2 (Affinity Capture-MS), CDC42BPA (Affinity Capture-MS), CDC42BPB (Affinity Capture-MS), FBXO28 (Affinity Capture-MS), HSF1 (Affinity Capture-MS), SNAP29 (Affinity Capture-MS), TP53RK (Affinity Capture-MS), CDC42BPA (Affinity Capture-MS), CDC42BPB (Affinity Capture-MS), KIAA1598 (Affinity Capture-MS), FBXO28 (Affinity Capture-MS), HSF1 (Affinity Capture-MS), NEFM (Affinity Capture-MS)

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	70
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
916565	NM_203403.2(LURAP1L):c.346C>T (p.Arg116Cys)	Likely pathogenic

SpliceAI

602 predictions. Top by Δscore:

Variant	Effect	Δscore
9:12821383:TAG:T	acceptor_loss	1.0000
9:12819140:GC:G	donor_gain	0.9900
9:12821377:T:TA	acceptor_gain	0.9900
9:12821384:A:AG	acceptor_gain	0.9900
9:12821384:AG:A	acceptor_gain	0.9900
9:12821385:G:GA	acceptor_gain	0.9900
9:12821385:GG:G	acceptor_gain	0.9900
9:12821385:GGTT:G	acceptor_gain	0.9900
9:12821385:GGTTA:G	acceptor_gain	0.9900
9:12775773:G:GG	donor_gain	0.9800
9:12776024:GATG:G	donor_gain	0.9800
9:12776025:ATGG:A	donor_loss	0.9800
9:12776027:GGT:G	donor_loss	0.9800
9:12776029:TGAG:T	donor_loss	0.9800
9:12776030:G:GG	donor_loss	0.9800
9:12821382:ATAG:A	acceptor_gain	0.9800
9:12821383:T:G	acceptor_gain	0.9800
9:12821385:GGT:G	acceptor_gain	0.9800
9:12775824:G:T	donor_gain	0.9700
9:12775825:A:T	donor_gain	0.9700
9:12776028:G:GG	donor_gain	0.9700
9:12821382:A:AG	acceptor_gain	0.9700
9:12775298:G:T	donor_gain	0.9500
9:12776031:A:AC	donor_loss	0.9500
9:12819141:C:G	donor_gain	0.9500
9:12819182:G:GG	donor_gain	0.9500
9:12776019:C:T	donor_gain	0.9400
9:12821381:CATAG:C	acceptor_gain	0.9400
9:12775264:T:TA	donor_gain	0.9300
9:12775265:A:AA	donor_gain	0.9300

AlphaMissense

1507 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000002502 (9:12773396 T>A), RS1000036050 (9:12803791 A>G), RS1000062683 (9:12799011 C>G,T), RS1000115524 (9:12809861 T>A), RS1000141355 (9:12809514 C>G), RS1000176334 (9:12800061 C>T), RS1000277798 (9:12814970 T>C), RS1000356017 (9:12780652 C>T), RS1000438701 (9:12780829 T>C), RS1000468702 (9:12800353 T>C), RS1000491975 (9:12817387 A>C,G), RS1000509741 (9:12822476 G>A,C), RS1000557585 (9:12777824 G>A), RS1000564710 (9:12790350 G>A), RS1000575735 (9:12823540 A>G)

Disease associations

OMIM: gene MIM:616130 | disease phenotypes: MIM:189960

GenCC curated gene-disease

Mondo (1): esophageal atresia/tracheoesophageal fistula (MONDO:0008586)

Orphanet (1): Esophageal atresia (Orphanet:1199)

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST002126_14	Periodontitis (CDC/AAP)	1.000000e-06
GCST003097_40	Pediatric autoimmune diseases	1.000000e-07
GCST003263_105	Post bronchodilator FEV1 in COPD	4.000000e-06
GCST003263_106	Post bronchodilator FEV1 in COPD	4.000000e-06
GCST009391_396	Metabolite levels	9.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004314	forced expiratory volume
EFO:0010437	triacylglycerol 58:10 measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C531835	Esophageal atresia with or without tracheoesophageal fistula (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

48 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	increases expression	4
Benzo(a)pyrene	increases expression	3
bisphenol A	affects expression, increases expression	2
sodium arsenite	decreases expression, increases expression	2
Valproic Acid	decreases methylation, increases expression	2
Cadmium Chloride	decreases expression, increases expression	2
Particulate Matter	increases abundance, increases expression	2
trichostatin A	increases expression	1
beta-lapachone	increases expression	1
methylparaben	increases expression	1
butyraldehyde	decreases expression	1
didecyldimethylammonium	increases expression	1
nickel sulfate	increases expression	1
1-nitropyrene	increases expression	1
perfluorooctane sulfonic acid	increases expression	1
2,2’,4,4’,5-brominated diphenyl ether	increases expression	1
abrine	increases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1
NSC 689534	affects binding, increases expression	1
(+)-JQ1 compound	decreases expression	1
NSC305787	increases expression	1
NSC668394	increases expression	1
Sunitinib	decreases expression	1
Zoledronic Acid	decreases expression	1
Leflunomide	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	increases methylation	1
Azathioprine	increases expression	1
Cannabidiol	increases expression	1
Copper	affects binding, increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03792360	PHASE1	WITHDRAWN	Adipose Derived SVF for Aero-digestive & Enterocutaneous Fistulae
NCT02033772	Not specified	COMPLETED	Prospective Data Collection of Patients < 6 Months of Age Undergoing Thoracoscopic Surgery
NCT02364843	Not specified	TERMINATED	A Physiological Study to Determine the Enteral Threonine Requirements in Infants Aged 1 to 6 Months
NCT03455881	Not specified	UNKNOWN	Phenotypic and Genetic Assessment of Tracheal and Esophageal Birth Defects in Patients
NCT03730454	Not specified	ACTIVE_NOT_RECRUITING	Transanastomotic Tube for Proximal Esophageal Atresia With Distal Tracheoesophageal Fistula Repair