LUZP1

Summary

LUZP1 (leucine zipper protein 1, HGNC:14985) is a protein-coding gene on chromosome 1p36.12, encoding Leucine zipper protein 1 (Q86V48). F-actin cross-linking protein.

This gene encodes a protein that contains a leucine zipper motif. The exact function of the encoded protein is not known. In mice this gene affects neural tube closure. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 7798 — RefSeq curated summary.

At a glance

• GWAS associations: 15
• Clinical variants (ClinVar): 168 total
• Phenotypes (HPO): 99
• Druggable target: yes
• MANE Select transcript: NM_001395462

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14985
Approved symbol	LUZP1
Name	leucine zipper protein 1
Location	1p36.12
Locus type	gene with protein product
Status	Approved
Aliases	LUZP
Ensembl gene	ENSG00000169641
Ensembl biotype	protein_coding
OMIM	601422
Entrez	7798

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000302291, ENST00000314174, ENST00000471849, ENST00000475164, ENST00000706844, ENST00000713666, ENST00000713667

RefSeq mRNA: 4 — MANE Select: NM_001395462 NM_001142546, NM_001395461, NM_001395462, NM_033631

CCDS: CCDS30628

Canonical transcript exons

ENST00000302291 — 4 exons

Exon	Start	End
ENSE00001272018	23109022	23109127
ENSE00001923022	23168766	23168856
ENSE00002131875	23091190	23094380
ENSE00004020615	23084030	23089053

Expression profiles

Bgee: expression breadth ubiquitous, 290 present calls, max score 98.67.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.8584 / max 1066.8196, expressed in 1798 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
10939	14.9212	1764
10940	7.6881	1698
10942	0.1382	58
10941	0.1109	35

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tendon of biceps brachii	UBERON:0008188	98.67	gold quality
sperm	CL:0000019	98.32	gold quality
male germ cell	CL:0000015	98.23	gold quality
olfactory bulb	UBERON:0002264	97.15	silver quality
type B pancreatic cell	CL:0000169	97.06	silver quality
lateral nuclear group of thalamus	UBERON:0002736	96.57	gold quality
visceral pleura	UBERON:0002401	95.03	gold quality
Brodmann (1909) area 23	UBERON:0013554	94.95	gold quality
endothelial cell	CL:0000115	94.83	gold quality
middle temporal gyrus	UBERON:0002771	94.02	gold quality
medial globus pallidus	UBERON:0002477	93.88	gold quality
parietal pleura	UBERON:0002400	93.79	gold quality
pons	UBERON:0000988	93.38	gold quality
lateral globus pallidus	UBERON:0002476	93.36	gold quality
diaphragm	UBERON:0001103	93.21	silver quality
globus pallidus	UBERON:0001875	93.16	gold quality
pleura	UBERON:0000977	93.13	gold quality
parietal lobe	UBERON:0001872	93.00	gold quality
postcentral gyrus	UBERON:0002581	92.93	gold quality
vena cava	UBERON:0004087	92.91	gold quality
secondary oocyte	CL:0000655	92.63	gold quality
urethra	UBERON:0000057	92.12	gold quality
hair follicle	UBERON:0002073	91.93	gold quality
occipital lobe	UBERON:0002021	91.65	gold quality
substantia nigra pars compacta	UBERON:0001965	91.64	gold quality
pancreatic ductal cell	CL:0002079	91.46	silver quality
nipple	UBERON:0002030	91.26	gold quality
tongue squamous epithelium	UBERON:0006919	91.23	gold quality
ventral tegmental area	UBERON:0002691	91.19	gold quality
primary visual cortex	UBERON:0002436	90.81	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	125.43
E-MTAB-10137	no	6.89
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

253 targeting LUZP1, 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-4776-3P	100.00	68.73	1340
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-497-5P	99.92	71.83	2674

Literature-anchored findings (GeneRIF, showing 4)

• LUZP mRNA is a prognostic indicator in hepatocellular carcinoma (PMID:26031464)
• LUZP1 and the tumor suppressor EPLIN modulate actin stability to restrict primary cilia formation. (PMID:32496561)
• LUZP1, a novel regulator of primary cilia and the actin cytoskeleton, is a contributing factor in Townes-Brocks Syndrome. (PMID:32553112)
• LUZP1 regulates the maturation of contractile actomyosin bundles. (PMID:38832964)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	luzp1	ENSDARG00000075556
mus_musculus	Luzp1	ENSMUSG00000001089
rattus_norvegicus	Luzp1	ENSRNOG00000022402
caenorhabditis_elegans		WBGENE00016792

Paralogs (3): FILIP1 (ENSG00000118407), CTTNBP2NL (ENSG00000143079), FILIP1L (ENSG00000168386)

Protein

Protein identifiers

Leucine zipper protein 1 — Q86V48 (reviewed: Q86V48)

Alternative names: Filamin mechanobinding actin cross-linking protein

All UniProt accessions (3): E5RFK8, E5RHU7, Q86V48

UniProt curated annotations — full annotation on UniProt →

Function. F-actin cross-linking protein. Stabilizes actin and acts as a negative regulator of primary cilium formation. Positively regulates the phosphorylation of both myosin II and protein phosphatase 1 regulatory subunit PPP1R12A/MYPT1 and promotes the assembly of myosin II stacks within actin stress fibers. Inhibits the phosphorylation of myosin light chain MYL9 by DAPK3 and suppresses the constriction velocity of the contractile ring during cytokinesis. Binds to microtubules and promotes epithelial cell apical constriction by up-regulating levels of diphosphorylated myosin light chain (MLC) through microtubule-dependent inhibition of MLC dephosphorylation by myosin phosphatase. Involved in regulation of cell migration, nuclear size and centriole number, probably through regulation of the actin cytoskeleton. Component of the CERF-1 and CERF-5 chromatin remodeling complexes in embryonic stem cells where it acts to stabilize the complexes. Plays a role in embryonic brain and cardiovascular development.

Subunit / interactions. Component of the CERF-1 ISWI chromatin remodeling complex (also called the CECR2-containing remodeling factor (CERF) complex) at least composed of CECR2 and SMARCA1. Component of the CERF-5 ISWI chromatin remodeling complex at least composed of CECR2 and SMARCA5/SNF2H. LUZP1 is detected as part of the CERF-1 and CERF-5 complexes in embryonic stem (ES) cells where it is involved in complex stabilization but is not detected in the complexes in the testis. Interacts (via C-terminus) with LIMA1/EPLIN; both proteins restrict ciliation and may work together to regulate this process. Interacts with myosin light chain MYL9; the interaction results in inhibition of phosphorylation of MYL9 by DAPK3. Interacts with DAPK3; the interaction is likely to occur throughout the cell cycle and reduces the LUZP1-mediated suppression of MYL9 phosphorylation. Interacts with the chromosomal passenger complex (CPC); CPC kinase activity is required for localization of LUZP1 to the centromere. Interacts with filamin FLNA isoform 5/VAR-1 but not with isoform 1; the interaction with FLNA is not necessary for colocalization with F-actin.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Cilium basal body. Midbody. Chromosome. Centromere. Spindle. Stress fiber. Nucleus. Cell projection. Dendrite. Perikaryon. Cell junction. Tight junction.

Disease relevance. Interacts with a truncated form of SALL1 associated with Townes-Brocks syndrome 1 (TBS1) and may contribute to the cilium defects seen in TBS1. The truncated SALL1 form promotes proteasome-mediated degradation of LUZP1.

Isoforms (3)

UniProt ID	Names	Canonical?
Q86V48-1	1	yes
Q86V48-2	2
Q86V48-3	3

RefSeq proteins (4): NP_001136018, NP_001382390, NP_001382391, NP_361013 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR050719	Cortactin-Actin_Reg	Family

UniProt features (59 total): modified residue 18, compositionally biased region 10, region of interest 9, mutagenesis site 9, sequence variant 6, splice variant 3, initiator methionine 1, chain 1, coiled-coil region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86V48-F1	57.40	0.25

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 (18): 2, 255, 394, 425, 440, 512, 570, 574, 611, 659, 679, 690, 745, 905, 932, 958, 995, 1042

Mutagenesis-validated functional residues (9):

Position	Phenotype
573	does not affect localization to the centrosome or midbody during mitosis.
574	does not affect localization to the centrosome or midbody during mitosis.
679	does not affect localization to the centrosome or midbody during mitosis.
838–840	abolishes binding to flna; when associated with 873-a–a-875.
840	does not affect localization to the centrosome or midbody during mitosis.
873–875	abolishes binding to flna; when associated with 838-a–a-840.
878	does not affect localization to the centrosome or midbody during mitosis.
891	does not affect localization to the centrosome or midbody during mitosis.
926	does not affect localization to the centrosome or midbody during mitosis.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 587 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, GOBP_CARDIAC_CHAMBER_DEVELOPMENT, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, TGGTGCT_MIR29A_MIR29B_MIR29C, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_PROTEIN_LOCALIZATION_TO_CYTOSKELETON, GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, GOBP_CARDIAC_SEPTUM_DEVELOPMENT, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_EPITHELIAL_CELL_DEVELOPMENT, PEREZ_TP63_TARGETS, GOBP_ARTERY_DEVELOPMENT, GOBP_NEURAL_TUBE_DEVELOPMENT, MEF2_02

GO Biological Process (9): ventricular septum development (GO:0003281), apical constriction (GO:0003383), neural fold bending (GO:0021503), contractile ring contraction (GO:0036213), stress fiber assembly (GO:0043149), artery development (GO:0060840), regulation of protein complex stability (GO:0061635), negative regulation of cilium assembly (GO:1902018), protein localization to actin cytoskeleton (GO:1903119)

GO Molecular Function (3): microtubule binding (GO:0008017), actin filament binding (GO:0051015), protein binding (GO:0005515)

GO Cellular Component (23): chromosome, centromeric region (GO:0000775), stress fiber (GO:0001725), centrosome (GO:0005813), microtubule (GO:0005874), actin filament (GO:0005884), bicellular tight junction (GO:0005923), actin cytoskeleton (GO:0015629), membrane (GO:0016020), dendrite (GO:0030425), midbody (GO:0030496), ciliary basal body (GO:0036064), perikaryon (GO:0043204), spindle midzone (GO:0051233), extracellular exosome (GO:0070062), tight junction (GO:0070160), CERF complex (GO:0090537), nucleus (GO:0005634), chromosome (GO:0005694), cytoplasm (GO:0005737), spindle (GO:0005819), cytoskeleton (GO:0005856), cell projection (GO:0042995), anchoring junction (GO:0070161)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
microtubule organizing center	2
microtubule cytoskeleton	2
polymeric cytoskeletal fiber	2
intracellular membraneless organelle	2
cardiac ventricle development	1
cardiac septum development	1
epithelial cell morphogenesis	1
actin-mediated cell contraction	1
neural fold formation	1
embryonic morphogenesis	1
morphogenesis of an epithelial fold	1
cytokinetic process	1
cytoskeleton-dependent cytokinesis	1
contractile actin filament bundle assembly	1
actomyosin structure organization	1
blood vessel development	1
regulation of biological quality	1
cilium assembly	1
negative regulation of plasma membrane bounded cell projection assembly	1
regulation of cilium assembly	1
negative regulation of organelle assembly	1
protein localization to cytoskeleton	1
tubulin binding	1
actin binding	1
protein-containing complex binding	1
binding	1
chromosomal region	1
actomyosin	1
contractile actin filament bundle	1
centriole	1
actin cytoskeleton	1
apical junction complex	1
tight junction	1
cytoskeleton	1
neuron projection	1
dendritic tree	1
cilium	1
neuronal cell body	1
spindle	1

Protein interactions and networks

STRING

758 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LUZP1	FLNA	P21333	583
LUZP1	KATNA1	O75449	528
LUZP1	SALL1	Q9NSC2	524
LUZP1	LIMA1	Q9UHB6	483
LUZP1	SLITRK1	Q96PX8	472
LUZP1	ARHGAP32	A7KAX9	459
LUZP1	NOVA1	P51513	443
LUZP1	FOS	P01100	430
LUZP1	HTR2B	P41595	424
LUZP1	PLEC	Q15149	424
LUZP1	RERE	Q9P2R6	419
LUZP1	CNTNAP2	Q9UHC6	418
LUZP1	CCSER2	Q9H7U1	409
LUZP1	FOXP2	O15409	402
LUZP1	UBE4B	O95155	398

IntAct

198 interactions, top by confidence:

A	B	Type	Score
MED4	MED19	psi-mi:“MI:2364”(proximity)	0.900
CEP290	CCP110	psi-mi:“MI:2364”(proximity)	0.890
DAPK3	LUZP1	psi-mi:“MI:0915”(physical association)	0.670
LUZP1	DAPK3	psi-mi:“MI:0914”(association)	0.670
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
KLHL22	TMEM223	psi-mi:“MI:0914”(association)	0.640
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
YWHAB	BLTP3B	psi-mi:“MI:2364”(proximity)	0.610
YWHAB	BLTP3B	psi-mi:“MI:0914”(association)	0.610
YWHAH	BLTP3B	psi-mi:“MI:0914”(association)	0.570
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
CEP104	CCDC66	psi-mi:“MI:2364”(proximity)	0.540
KXD1	HIP1	psi-mi:“MI:0914”(association)	0.530
KLHDC3	DPYSL4	psi-mi:“MI:0914”(association)	0.530
BAG2	HGS	psi-mi:“MI:0914”(association)	0.530
MGME1	WDHD1	psi-mi:“MI:0914”(association)	0.530
KXD1	TRAK2	psi-mi:“MI:0914”(association)	0.530
BORCS6	HSBP1	psi-mi:“MI:0914”(association)	0.530
HSPA2	DNAJC13	psi-mi:“MI:0914”(association)	0.530
PNMA2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
KIAA0753	OFD1	psi-mi:“MI:2364”(proximity)	0.480
LUZP1	YWHAE	psi-mi:“MI:0915”(physical association)	0.470
SFN	LUZP1	psi-mi:“MI:0915”(physical association)	0.470
SCLT1	CCDC22	psi-mi:“MI:0914”(association)	0.420
CEP162	CCP110	psi-mi:“MI:2364”(proximity)	0.420
SEC31A	LUZP1	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (256): LUZP1 (Affinity Capture-MS), LUZP1 (Affinity Capture-MS), LUZP1 (Affinity Capture-MS), LUZP1 (Affinity Capture-MS), LUZP1 (Two-hybrid), LUZP1 (Proximity Label-MS), LUZP1 (Affinity Capture-MS), LUZP1 (Affinity Capture-MS), LUZP1 (Proximity Label-MS), LUZP1 (Proximity Label-MS), LUZP1 (Proximity Label-MS), LUZP1 (Proximity Label-MS), LUZP1 (Proximity Label-MS), LUZP1 (Proximity Label-MS), LUZP1 (Proximity Label-MS)

ESM2 similar proteins: A0A2K1J5A5, A0A2K1JJ00, A1Z7A8, A2AEY4, A2AWL7, A6NCI8, B4IH30, B4P8I0, E9PVX6, E9Q309, O14513, O43303, O60284, O94243, P40167, P46013, P51954, Q10668, Q11114, Q3ZBP0, Q498L0, Q4QY64, Q4V7J0, Q5BI31, Q5SW79, Q5VT06, Q66H17, Q69Z38, Q6A065, Q6AXY9, Q7SZL5, Q7TSH4, Q80TY4, Q80YD3, Q86UF4, Q86V48, Q8IWC1, Q8IWI9, Q8L7I1, Q8R4U7

Diamond homologs: A3KNA5, B9EJA2, Q07DW4, Q09YI1, Q09YJ3, Q09YM8, Q4L180, Q5RDH2, Q6P6L0, Q7Z7B0, Q86V48, Q8K4T4, Q8R4U7, Q9CS72, Q9ESV1, Q9P2B4

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 216 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.

Reactome pathways:

Pathway	Partners	Fold	FDR
Activation of BAD and translocation to mitochondria	7	38.9×	1e-08
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	34.3×	3e-08
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	34.3×	3e-08
Activation of BH3-only proteins	7	25.4×	3e-07
RHO GTPases activate PKNs	10	23.1×	7e-10
RHO GTPases activate PAKs	5	19.9×	1e-04
Intrinsic Pathway for Apoptosis	9	19.2×	3e-08
Loss of Nlp from mitotic centrosomes	14	16.2×	2e-11

GO biological processes:

GO term	Partners	Fold	FDR
centriole replication	7	28.3×	2e-06
non-motile cilium assembly	8	12.8×	5e-05
protein targeting	6	12.1×	2e-03
intracellular protein localization	16	9.2×	3e-08
cilium assembly	16	6.5×	2e-06
cell division	16	4.1×	5e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	146
Likely benign	10
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1745 predictions. Top by Δscore:

Variant	Effect	Δscore
1:23094376:TCAAT:T	acceptor_gain	1.0000
1:23094377:CAAT:C	acceptor_gain	1.0000
1:23094377:CAATC:C	acceptor_gain	1.0000
1:23094378:AAT:A	acceptor_gain	1.0000
1:23094379:AT:A	acceptor_gain	1.0000
1:23094379:ATCT:A	acceptor_loss	1.0000
1:23094380:TCTAC:T	acceptor_loss	1.0000
1:23094381:C:CC	acceptor_gain	1.0000
1:23094381:CTA:C	acceptor_loss	1.0000
1:23094382:T:G	acceptor_loss	1.0000
1:23109020:A:AC	donor_gain	1.0000
1:23109021:C:CC	donor_gain	1.0000
1:23109128:C:CC	acceptor_gain	1.0000
1:23109128:C:CG	acceptor_loss	1.0000
1:23109132:A:AC	acceptor_gain	1.0000
1:23109132:A:C	acceptor_gain	1.0000
1:23109137:A:AC	acceptor_gain	1.0000
1:23109137:A:C	acceptor_gain	1.0000
1:23109139:A:C	acceptor_gain	1.0000
1:23168760:CCTCA:C	donor_loss	1.0000
1:23168761:CTCAC:C	donor_loss	1.0000
1:23168762:TCACC:T	donor_loss	1.0000
1:23168763:CA:C	donor_loss	1.0000
1:23168765:CC:C	donor_loss	1.0000
1:23168765:CCT:C	donor_gain	1.0000
1:23109016:ACTT:A	donor_loss	0.9900
1:23109018:TTAC:T	donor_loss	0.9900
1:23109019:TA:T	donor_loss	0.9900
1:23109020:A:AG	donor_loss	0.9900
1:23109020:AC:A	donor_gain	0.9900

AlphaMissense

7079 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:23093369:A:G	L298P	0.999
1:23093390:A:G	L291P	0.999
1:23093621:A:G	L214P	0.999
1:23093798:A:G	L155P	0.999
1:23093822:A:G	L147P	0.999
1:23093840:A:G	L141P	0.999
1:23093852:A:G	L137P	0.999
1:23093924:A:G	L113P	0.999
1:23094009:C:G	A85P	0.999
1:23094131:A:G	L44P	0.999
1:23094144:C:G	A40P	0.999
1:23094152:A:G	L37P	0.999
1:23094165:C:G	A33P	0.999
1:23094182:A:G	L27P	0.999
1:23094203:A:G	L20P	0.999
1:23093327:A:G	L312P	0.998
1:23093705:A:G	L186P	0.998
1:23093768:A:G	L165P	0.998
1:23093789:A:G	L158P	0.998
1:23093894:A:G	L123P	0.998
1:23093945:A:G	L106P	0.998
1:23094056:C:G	R69P	0.998
1:23094122:A:G	L47P	0.998
1:23094185:C:G	R26P	0.998
1:23094188:C:G	R25P	0.998
1:23094194:A:G	L23P	0.998
1:23093297:A:G	L322P	0.997
1:23093999:A:G	L88P	0.997
1:23094102:C:G	A54P	0.997
1:23094205:C:A	K19N	0.997

dbSNP variants (sampled 300 via entrez): RS1000011534 (1:23170780 T>C), RS1000015753 (1:23168159 CCGGCCCG>C,CCGGCCCGCGGCCCG,CCGGCCCGCGGCCCGCGGCCCG), RS1000056283 (1:23124466 C>T), RS1000058539 (1:23098109 T>C,G), RS1000067976 (1:23167925 C>T), RS1000139296 (1:23177519 C>T), RS1000167923 (1:23131906 G>A), RS1000170653 (1:23177207 A>G), RS1000188178 (1:23085186 G>C), RS1000192184 (1:23095199 T>A), RS1000201182 (1:23141265 G>A), RS1000217848 (1:23084967 C>G,T), RS1000327445 (1:23155098 A>G), RS1000354703 (1:23117374 C>G,T), RS1000372072 (1:23137932 T>C)

Disease associations

OMIM: gene MIM:601422 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

99 total (30 of 99 shown, HPO-id order):

HPO	Term
HP:0000028	Cryptorchidism
HP:0000047	Hypospadias
HP:0000055	Abnormal female external genitalia morphology
HP:0000077	Abnormality of the kidney
HP:0000107	Renal cyst
HP:0000126	Hydronephrosis
HP:0000135	Hypogonadism
HP:0000160	Narrow mouth
HP:0000248	Brachycephaly
HP:0000252	Microcephaly
HP:0000270	Delayed cranial suture closure
HP:0000286	Epicanthus
HP:0000307	Pointed chin
HP:0000343	Long philtrum
HP:0000358	Posteriorly rotated ears
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000431	Wide nasal bridge
HP:0000457	Depressed nasal ridge
HP:0000464	Abnormality of the neck
HP:0000486	Strabismus
HP:0000490	Deeply set eye
HP:0000504	Abnormality of vision
HP:0000505	Visual impairment
HP:0000518	Cataract
HP:0000534	Abnormal eyebrow morphology
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000708	Atypical behavior
HP:0000717	Autism

GWAS associations

15 associations (top):

Study	Trait	p-value
GCST002647_7	Height	2.000000e-20
GCST005905_12	Global electrical heterogeneity phenotypes	3.000000e-09
GCST008129_2	Body mass index	3.000000e-10
GCST010696_9	Cortical thickness (min-P)	3.000000e-08
GCST010697_34	Cortical surface area (min-P)	5.000000e-08
GCST010698_71	Subcortical volume (min-P)	4.000000e-14
GCST010699_32	Brain morphology (min-P)	6.000000e-09
GCST010700_65	Cortical thickness (MOSTest)	3.000000e-09
GCST010701_93	Cortical surface area (MOSTest)	2.000000e-13
GCST010702_34	Subcortical volume (MOSTest)	1.000000e-10
GCST010703_189	Brain morphology (MOSTest)	7.000000e-11
GCST011354_19	Bell’s palsy	4.000000e-06
GCST90000025_906	Appendicular lean mass	8.000000e-24
GCST90020028_520	Hip circumference adjusted for BMI	1.000000e-10
GCST90020028_569	Hip circumference adjusted for BMI	2.000000e-14

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004327	electrocardiography
EFO:0004340	body mass index
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness
EFO:0004980	appendicular lean mass
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5724640 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
trichostatin A	affects cotreatment, decreases expression, affects expression	3
Smoke	decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
FR900359	affects phosphorylation	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases methylation, affects cotreatment	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, decreases expression, increases expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	increases expression	1
cobaltous chloride	decreases expression	1
coumarin	affects phosphorylation	1
isobutyl alcohol	affects cotreatment, decreases expression, increases abundance	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	decreases methylation	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Cadmium	decreases expression	1
Caffeine	affects phosphorylation	1
Carbamazepine	affects expression	1
Cisplatin	increases expression	1

ChEMBL screening assays

6 unique, capped per target: 6 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5697442	Binding	Inhibition of LUZP1 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature

Clinical trials (associated diseases)

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