LENG1

gene
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Summary

LENG1 (leukocyte receptor cluster member 1, HGNC:15502) is a protein-coding gene on chromosome 19q13.42, encoding Leukocyte receptor cluster member 1 (Q96BZ8). It is a selective cancer dependency (DepMap: 27.3% of cell lines).

Predicted to be located in nucleoplasm.

Source: NCBI Gene 79165 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 71 total — 1 likely-pathogenic
  • Cancer dependency (DepMap): dependent in 27.3% of screened cell lines
  • MANE Select transcript: NM_024316

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:15502
Approved symbolLENG1
Nameleukocyte receptor cluster member 1
Location19q13.42
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000105617
Ensembl biotypeprotein_coding
Entrez79165

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000222224

RefSeq mRNA: 1 — MANE Select: NM_024316 NM_024316

CCDS: CCDS12881

Canonical transcript exons

ENST00000222224 — 4 exons

ExonStartEnd
ENSE000010517135415956454159721
ENSE000011224925415676354157025
ENSE000011224975415828254158461
ENSE000011225055415516154155940

Expression profiles

Bgee: expression breadth ubiquitous, 136 present calls, max score 87.57.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.3965 / max 186.1153, expressed in 1805 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
18259214.20681793
1825935.18971721

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
sural nerveUBERON:001548887.57gold quality
granulocyteCL:000009487.06gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099185.24gold quality
gastrocnemiusUBERON:000138884.34gold quality
apex of heartUBERON:000209884.20gold quality
muscle of legUBERON:000138383.89gold quality
hindlimb stylopod muscleUBERON:000425283.42gold quality
leukocyteCL:000073883.06gold quality
monocyteCL:000057683.01gold quality
mucosa of transverse colonUBERON:000499183.01gold quality
heart left ventricleUBERON:000208482.77gold quality
bloodUBERON:000017882.70gold quality
C1 segment of cervical spinal cordUBERON:000646982.21gold quality
skeletal muscle tissueUBERON:000113481.77gold quality
calcaneal tendonUBERON:000370181.55gold quality
popliteal arteryUBERON:000225081.38gold quality
tibial arteryUBERON:000761081.37gold quality
heartUBERON:000094880.90gold quality
fundus of stomachUBERON:000116080.73gold quality
thoracic aortaUBERON:000151580.64gold quality
body of stomachUBERON:000116180.63gold quality
esophagogastric junction muscularis propriaUBERON:003584180.62gold quality
ascending aortaUBERON:000149680.61gold quality
left testisUBERON:000453380.41gold quality
muscle tissueUBERON:000238580.39gold quality
right adrenal glandUBERON:000123380.36gold quality
lower esophagus muscularis layerUBERON:003583380.36gold quality
lower esophagusUBERON:001347380.33gold quality
right adrenal gland cortexUBERON:003582780.31gold quality
left coronary arteryUBERON:000162680.27gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes3.13

Regulation

Is transcription factor: no

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 27.3% of screened cell lines.

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_rerioleng1ENSDARG00000037633
mus_musculusLeng1ENSMUSG00000078813
rattus_norvegicusLeng1ENSRNOG00000061893
drosophila_melanogasterCG12818FBGN0037809
caenorhabditis_elegansY18H1A.2WBGENE00021208

Protein

Protein identifiers

Leukocyte receptor cluster member 1Q96BZ8 (reviewed: Q96BZ8)

All UniProt accessions (1): Q96BZ8

UniProt curated annotations — full annotation on UniProt →

Miscellaneous. Belongs to the leukocyte receptor cluster (LRC) present on 19q13.4.

RefSeq proteins (1): NP_077292* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR019339CIR_N_domDomain
IPR039875LENG1-likeFamily

Pfam: PF10197

UniProt features (14 total): compositionally biased region 4, region of interest 3, coiled-coil region 3, modified residue 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q96BZ8-F175.600.29

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 (2): 59, 245

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

IDPathway
R-HSA-72163mRNA Splicing - Major Pathway
R-HSA-72172mRNA Splicing
R-HSA-72203Processing of Capped Intron-Containing Pre-mRNA
R-HSA-8953854Metabolism of RNA

MSigDB gene sets: 55 (showing top): BHATI_G2M_ARREST_BY_2METHOXYESTRADIOL_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, REACTOME_MRNA_SPLICING, REACTOME_METABOLISM_OF_RNA, WAKABAYASHI_ADIPOGENESIS_PPARG_BOUND_8D, GSE13522_WT_VS_IFNG_KO_SKING_T_CRUZI_Y_STRAIN_INF_DN, ASH1L_TARGET_GENES, CEBPZ_TARGET_GENES, ELF2_TARGET_GENES, GREB1_TARGET_GENES, HSD17B8_TARGET_GENES, PRKDC_TARGET_GENES, SALL4_TARGET_GENES

GO Biological Process (0):

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

GO Cellular Component (1): nucleoplasm (GO:0005654)

Reactome top-level categories

Rollup of top-3 pathways:

CategoryPathways
mRNA Splicing1
Processing of Capped Intron-Containing Pre-mRNA1
Metabolism of RNA1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
binding1
nuclear lumen1
cellular anatomical structure1

Protein interactions and networks

STRING

1768 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
LENG1CNOT3O75175617
LENG1MBOAT7Q96N66597
LENG1CCDC177Q9NQR7563
LENG1RFX8Q6ZV50553
LENG1TFPTP0C1Z6504
LENG1TSEN34Q9BSV6490
LENG1OR14C36Q8NHC7476
LENG1FCARP24071454
LENG1PRPF31Q8WWY3414
LENG1LENG9Q96B70404
LENG1LILRA5A6NI73398
LENG1C1orf159Q96HA4398
LENG1LAIR1Q6GTX8397
LENG1SLC16A13Q7RTY0384
LENG1PPIL1Q9Y3C6376

IntAct

330 interactions, top by confidence:

ABTypeScore
GOLGA2LENG1psi-mi:“MI:0915”(physical association)0.790
LENG1GOLGA2psi-mi:“MI:0915”(physical association)0.790
YEATS4ZNHIT1psi-mi:“MI:0914”(association)0.790
LENG1LDOC1psi-mi:“MI:0915”(physical association)0.780
LENG1CEP70psi-mi:“MI:0915”(physical association)0.780
ROPN1LENG1psi-mi:“MI:0915”(physical association)0.780
CEP70LENG1psi-mi:“MI:0915”(physical association)0.780
LENG1ROPN1psi-mi:“MI:0915”(physical association)0.780
LDOC1LENG1psi-mi:“MI:0915”(physical association)0.780
FSD2LENG1psi-mi:“MI:0915”(physical association)0.720
CDR2LENG1psi-mi:“MI:0915”(physical association)0.720
LENG1KRT31psi-mi:“MI:0915”(physical association)0.720
LENG1NAB2psi-mi:“MI:0915”(physical association)0.720
KRT40LENG1psi-mi:“MI:0915”(physical association)0.720
LENG1TRIM54psi-mi:“MI:0915”(physical association)0.720
MID2LENG1psi-mi:“MI:0915”(physical association)0.720
LENG1FSD2psi-mi:“MI:0915”(physical association)0.720
LENG1CDR2psi-mi:“MI:0915”(physical association)0.720

BioGRID (152): LENG1 (Two-hybrid), LENG1 (Two-hybrid), LENG1 (Two-hybrid), LENG1 (Two-hybrid), LENG1 (Two-hybrid), LENG1 (Two-hybrid), LENG1 (Two-hybrid), LENG1 (Two-hybrid), LENG1 (Two-hybrid), LENG1 (Two-hybrid), LENG1 (Two-hybrid), LENG1 (Two-hybrid), LENG1 (Two-hybrid), LENG1 (Two-hybrid), LENG1 (Two-hybrid)

ESM2 similar proteins: A1A5P2, A6QNR1, A8WY26, D3ZND0, O15213, O59678, P27672, P78316, Q0V8M0, Q15050, Q24K12, Q28IV8, Q2KIH4, Q2KII6, Q3T0Q8, Q3T0Z5, Q3UFY0, Q4KLC4, Q5M985, Q5RAS1, Q5RJT2, Q5TAP6, Q5TJE7, Q5ZKM1, Q640M1, Q6EJB6, Q6P0I6, Q6PFJ1, Q8BK35, Q8IY81, Q8N9T8, Q8NEJ9, Q8R3N1, Q8VDQ9, Q96BZ8, Q96EU6, Q9BRP8, Q9BRR8, Q9BVJ6, Q9C086

Diamond homologs: Q3T0Z5, Q96BZ8, Q9DB98

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 86 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO termPartnersFoldFDR
intermediate filament organization724.4×7e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic1
Uncertain significance60
Likely benign2
Benign0

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
3387818NM_014516.4(CNOT3):c.2204G>T (p.Arg735Leu)Likely pathogenic

SpliceAI

483 predictions. Top by Δscore:

VariantEffectΔscore
19:54155302:C:CAacceptor_gain1.0000
19:54155936:GAGGC:Gacceptor_gain1.0000
19:54155937:AGGC:Aacceptor_gain1.0000
19:54155938:GGC:Gacceptor_gain1.0000
19:54155939:GC:Gacceptor_gain1.0000
19:54155940:CC:Cacceptor_gain1.0000
19:54155941:C:CCacceptor_gain1.0000
19:54155941:C:Tacceptor_gain1.0000
19:54155943:G:Cacceptor_gain1.0000
19:54156761:A:ACdonor_gain1.0000
19:54156761:ACT:Adonor_gain1.0000
19:54156762:C:CCdonor_gain1.0000
19:54156762:CTC:Cdonor_gain1.0000
19:54156764:C:CAdonor_gain1.0000
19:54156796:T:Adonor_gain1.0000
19:54158276:GCTTA:Gdonor_loss1.0000
19:54158277:CTTA:Cdonor_loss1.0000
19:54158278:TTACT:Tdonor_loss1.0000
19:54158279:TA:Tdonor_loss1.0000
19:54158280:A:ACdonor_gain1.0000
19:54158280:ACTT:Adonor_loss1.0000
19:54158281:C:CGdonor_gain1.0000
19:54158281:CTTT:Cdonor_gain1.0000
19:54158284:T:Adonor_gain1.0000
19:54158301:T:TAdonor_gain1.0000
19:54158340:T:TAdonor_gain1.0000
19:54158457:CGGGC:Cacceptor_gain1.0000
19:54158460:GC:Gacceptor_gain1.0000
19:54158461:CC:Cacceptor_gain1.0000
19:54158461:CCTGG:Cacceptor_loss1.0000

AlphaMissense

1685 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
19:54159669:C:AW9C0.998
19:54159669:C:GW9C0.998
19:54159671:A:GW9R0.998
19:54159671:A:TW9R0.998
19:54159688:A:GI3T0.998
19:54159666:G:CH10Q0.997
19:54159666:G:TH10Q0.997
19:54159667:T:CH10R0.995
19:54159668:G:CH10D0.995
19:54159678:C:AK6N0.995
19:54159678:C:GK6N0.995
19:54155775:G:CF247L0.994
19:54155775:G:TF247L0.994
19:54155777:A:GF247L0.994
19:54159648:A:CN16K0.994
19:54159648:A:TN16K0.994
19:54159675:C:AK7N0.994
19:54159675:C:GK7N0.994
19:54159688:A:CI3S0.994
19:54159688:A:TI3N0.994
19:54159685:A:GL4S0.992
19:54159690:A:CN2K0.992
19:54159690:A:TN2K0.992
19:54159664:A:TV11D0.991
19:54159677:T:CK7E0.991
19:54156950:A:GW130R0.989
19:54156950:A:TW130R0.989
19:54159654:C:AK14N0.989
19:54159654:C:GK14N0.989
19:54159676:T:AK7M0.989

dbSNP variants (sampled 300 via entrez): RS1000142983 (19:54161482 G>A), RS1000201134 (19:54155547 G>A), RS1000332243 (19:54157869 C>G), RS1000427269 (19:54157736 A>T), RS1001246921 (19:54161542 T>G), RS1001784380 (19:54158377 A>G), RS1002216254 (19:54157237 G>A), RS1003143421 (19:54154770 C>T), RS1003220811 (19:54158149 G>A), RS1004127861 (19:54155237 T>G), RS1004243777 (19:54155096 C>G,T), RS1004699546 (19:54159778 C>G,T), RS1005130558 (19:54158417 T>C,G), RS1005251247 (19:54156051 C>A,G), RS1005801458 (19:54160721 C>A)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:618672

GenCC curated gene-disease

Mondo (1): intellectual developmental disorder with speech delay, autism, and dysmorphic facies (MONDO:0032864)

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

StudyTraitp-value
GCST008758_80Pre-treatment viral load in HIV-1 infection2.000000e-16

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0010125viral load

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyreneincreases expression, decreases expression2
aristolochic acid Idecreases expression1
FR900359increases phosphorylation1
triphenyl phosphateaffects expression1
tris(1,3-dichloro-2-propyl)phosphateincreases expression1
sodium arseniteincreases expression1
coumarinincreases phosphorylation1
di-n-butylphosphoric acidaffects expression1
CGP 52608increases reaction, affects binding1
ICG 001decreases expression1
licochalcone Bincreases expression1
Caffeinedecreases phosphorylation1
Dichlorodiphenyl Dichloroethylenedecreases expression1
Methyl Methanesulfonateincreases expression1
Phenobarbitalaffects expression1
Dronabinoldecreases expression1
Thiramincreases expression1
Tobacco Smoke Pollutiondecreases expression1
Urethaneincreases expression1
Valproic Acidincreases expression1
Cyclosporineincreases expression1
Sodium Seleniteincreases expression1
Copper Sulfateincreases expression1
Lactic Aciddecreases expression1
Acrylamideincreases expression1

Clinical trials (associated diseases)

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