ZDHHC1

Summary

ZDHHC1 (zDHHC palmitoyltransferase 1, HGNC:17916) is a protein-coding gene on chromosome 16q22.1, encoding Palmitoyltransferase ZDHHC1 (Q8WTX9). Palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates, such as NCDN and NLRP3.

Enables protein-cysteine S-palmitoyltransferase activity. Involved in antiviral innate immune response; protein palmitoylation; and regulation of defense response. Located in Golgi apparatus and endoplasmic reticulum membrane.

Source: NCBI Gene 29800 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 95 total
• MANE Select transcript: NM_001323627

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17916
Approved symbol	ZDHHC1
Name	zDHHC palmitoyltransferase 1
Location	16q22.1
Locus type	gene with protein product
Status	Approved
Aliases	HSU90653, ZNF377
Ensembl gene	ENSG00000159714
Ensembl biotype	protein_coding
Entrez	29800

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 12 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000348579, ENST00000562122, ENST00000565726, ENST00000566075, ENST00000567311, ENST00000568650, ENST00000902878, ENST00000902879, ENST00000902880, ENST00000902881, ENST00000902882, ENST00000902883, ENST00000923151, ENST00000923152, ENST00000963869, ENST00000963870

RefSeq mRNA: 2 — MANE Select: NM_001323627 NM_001323627, NM_013304

CCDS: CCDS10836, CCDS92175

Canonical transcript exons

ENST00000565726 — 12 exons

Exon	Start	End
ENSE00001047308	67398573	67398731
ENSE00001047316	67400957	67401132
ENSE00002617362	67394152	67394893
ENSE00003467680	67398212	67398324
ENSE00003486322	67407767	67407813
ENSE00003520528	67399355	67399456
ENSE00003521203	67395002	67395062
ENSE00003562193	67406200	67406442
ENSE00003595855	67398820	67398944
ENSE00003652697	67395187	67395280
ENSE00003676875	67395484	67395566
ENSE00003840055	67416171	67416477

Expression profiles

Bgee: expression breadth ubiquitous, 161 present calls, max score 95.78.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.8919 / max 42.4122, expressed in 1341 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
157781	3.6071	1270
157778	0.1676	104
157777	0.0487	19
157780	0.0372	11
157776	0.0313	12

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	95.78	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.67	gold quality
endocervix	UBERON:0000458	90.08	gold quality
left lobe of thyroid gland	UBERON:0001120	90.06	gold quality
right lobe of thyroid gland	UBERON:0001119	89.98	gold quality
stromal cell of endometrium	CL:0002255	88.25	gold quality
thyroid gland	UBERON:0002046	87.77	gold quality
left testis	UBERON:0004533	87.77	gold quality
right testis	UBERON:0004534	87.71	gold quality
adenohypophysis	UBERON:0002196	87.62	gold quality
left ovary	UBERON:0002119	87.38	gold quality
right ovary	UBERON:0002118	87.29	gold quality
body of uterus	UBERON:0009853	87.20	gold quality
left uterine tube	UBERON:0001303	86.64	gold quality
skin of leg	UBERON:0001511	86.30	gold quality
ectocervix	UBERON:0012249	86.12	gold quality
metanephros cortex	UBERON:0010533	85.91	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	85.76	gold quality
lower esophagus muscularis layer	UBERON:0035833	85.71	gold quality
mucosa of stomach	UBERON:0001199	85.69	gold quality
lower esophagus	UBERON:0013473	85.66	gold quality
pituitary gland	UBERON:0000007	85.10	gold quality
minor salivary gland	UBERON:0001830	84.84	gold quality
tibial nerve	UBERON:0001323	84.75	gold quality
skin of abdomen	UBERON:0001416	84.70	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.37	gold quality
muscle layer of sigmoid colon	UBERON:0035805	84.28	gold quality
body of pancreas	UBERON:0001150	83.94	gold quality
testis	UBERON:0000473	83.89	gold quality
right coronary artery	UBERON:0001625	83.11	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.89

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

32 targeting ZDHHC1, 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-12136	99.98	72.81	5713
HSA-MIR-9718	99.94	68.91	918
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-519A-3P	99.67	71.67	1868
HSA-MIR-519B-3P	99.67	71.67	1868
HSA-MIR-519C-3P	99.67	71.67	1870
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-4663	99.62	65.33	957
HSA-MIR-3609	99.52	69.89	2587
HSA-MIR-548AH-5P	99.52	69.73	2626
HSA-MIR-8077	99.17	66.67	862
HSA-MIR-7160-5P	99.11	67.17	2207
HSA-MIR-4796-3P	99.08	68.38	1681
HSA-MIR-153-3P	98.96	72.51	1644
HSA-MIR-3180	98.46	64.68	348
HSA-MIR-3180-3P	98.46	64.68	348
HSA-MIR-6816-5P	98.46	64.35	364
HSA-MIR-628-5P	98.36	67.74	844
HSA-MIR-4684-3P	98.24	69.91	1075

Literature-anchored findings (GeneRIF, showing 5)

• In silico screening for palmitoyl substrates reveals a role for DHHC1/3/10 (zDHHC1/3/11)-mediated neurochondrin palmitoylation in its targeting to Rab5-positive endosomes. (PMID:23687301)
• In an expression screen for proteins that can activate the IFNB1 promoter, authors identified the ER-associated protein ZDHHC1 as a positive regulator of virus-triggered, MITA/STING-dependent immune signaling. (PMID:25299331)
• DNA methylation downregulated ZDHHC1 suppresses tumor growth by altering cellular metabolism and inducing oxidative/ER stress-mediated apoptosis and pyroptosis. (PMID:32863941)
• Cancer cells escape p53’s tumor suppression through ablation of ZDHHC1-mediated p53 palmitoylation. (PMID:34282274)
• ZDHHC1 downregulates LIPG and inhibits colorectal cancer growth via IGF2BP1 Palmitoylation. (PMID:39069526)

Cross-species orthologs

12 orthologs

Organism	Symbol	Gene ID
danio_rerio	zdhhc1	ENSDARG00000077546
mus_musculus	Zdhhc1	ENSMUSG00000039199
rattus_norvegicus	Zdhhc1	ENSRNOG00000017045
drosophila_melanogaster	Dnz1	FBGN0027453
drosophila_melanogaster	CG1407	FBGN0033474
drosophila_melanogaster	CG17287	FBGN0034202
caenorhabditis_elegans	dhhc-7	WBGENE00007637
caenorhabditis_elegans	dhhc-12	WBGENE00010323
caenorhabditis_elegans	dhhc-2	WBGENE00012948
caenorhabditis_elegans		WBGENE00014075
caenorhabditis_elegans		WBGENE00016620
caenorhabditis_elegans		WBGENE00020066

Paralogs (17): ZDHHC6 (ENSG00000023041), ZDHHC15 (ENSG00000102383), ZDHHC2 (ENSG00000104219), ZDHHC4 (ENSG00000136247), ZDHHC7 (ENSG00000153786), ZDHHC12 (ENSG00000160446), ZDHHC3 (ENSG00000163812), ZDHHC19 (ENSG00000163958), ZDHHC14 (ENSG00000175048), ZDHHC21 (ENSG00000175893), ZDHHC22 (ENSG00000177108), ZDHHC20 (ENSG00000180776), ZDHHC23 (ENSG00000184307), ZDHHC9 (ENSG00000188706), ZDHHC11 (ENSG00000188818), ZDHHC18 (ENSG00000204160), ZDHHC11B (ENSG00000206077)

Protein

Protein identifiers

Palmitoyltransferase ZDHHC1 — Q8WTX9 (reviewed: Q8WTX9)

Alternative names: DHHC domain-containing cysteine-rich protein 1, Zinc finger DHHC domain-containing protein 1, Zinc finger protein 377

All UniProt accessions (2): Q8WTX9, I3L202

UniProt curated annotations — full annotation on UniProt →

Function. Palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates, such as NCDN and NLRP3. Has a palmitoyltransferase activity toward NCDN and regulates NCDN association with endosome membranes through this palmitoylation. Acts as an activator of the NLRP3 inflammasome by mediating palmitoylation of ‘Cys-130’ and ‘Cys-958’ of NLRP3, thereby promoting NLRP3 phosphorylation and activation by NEK7. Also has a palmitoyltransferase activity-independent function in DNA virus-triggered and CGAS-mediated innate immune response. Functions as an activator of STING1 by promoting its cGAMP-induced oligomerization and the recruitment of downstream signaling components.

Subunit / interactions. Interacts with STING1; ZDHHC1 constitutively interacts with STING1 and in presence of DNA viruses activates it by promoting its cGAMP-induced oligomerization and the recruitment of downstream signaling components.

Subcellular location. Endosome membrane. Endoplasmic reticulum membrane. Golgi apparatus.

Tissue specificity. Widely expressed with significant expression in heart, brain, placenta, lung, liver, kidney, testis, thymus and small intestine. Expressed at lower levels in adult pancreas and lung.

Domain organisation. The DHHC domain is required for palmitoyltransferase activity.

Similarity. Belongs to the DHHC palmitoyltransferase family.

RefSeq proteins (2): NP_001310556, NP_037436 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001594	Palmitoyltrfase_DHHC	Domain
IPR039859	PFA4/ZDH16/20/ERF2-like	Family

Pfam: PF01529

Catalyzed reactions (Rhea), 1 shown:

• L-cysteinyl-[protein] + hexadecanoyl-CoA = S-hexadecanoyl-L-cysteinyl-[protein] + CoA (RHEA:36683)

UniProt features (18 total): topological domain 5, region of interest 4, transmembrane region 4, chain 1, domain 1, compositionally biased region 1, active site 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WTX9-F1	67.38	0.42

Functional residue map

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

Catalytic / active sites (1): 164 (s-palmitoyl cysteine intermediate)

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 111 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, chr16q22, GOBP_INFLAMMATORY_RESPONSE, GOBP_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS, TGCACTT_MIR519C_MIR519B_MIR519A, GOBP_PROTEIN_TARGETING, CTATGCA_MIR153, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_PROTEIN_TARGETING_TO_MEMBRANE, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE

GO Biological Process (7): positive regulation of defense response to virus by host (GO:0002230), protein targeting to membrane (GO:0006612), antiviral innate immune response (GO:0140374), positive regulation of NLRP3 inflammasome complex assembly (GO:1900227), positive regulation of protein oligomerization (GO:0032461), NLRP3 inflammasome complex assembly (GO:0044546), positive regulation of protein localization to endosome (GO:1905668)

GO Molecular Function (6): DNA binding (GO:0003677), palmitoyltransferase activity (GO:0016409), protein-cysteine S-palmitoyltransferase activity (GO:0019706), protein binding (GO:0005515), transferase activity (GO:0016740), acyltransferase activity (GO:0016746)

GO Cellular Component (7): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), endosome membrane (GO:0010008), extracellular exosome (GO:0070062), endosome (GO:0005768), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
endomembrane system	3
positive regulation of protein-containing complex assembly	2
cytoplasm	2
intracellular membrane-bounded organelle	2
regulation of defense response to virus by host	1
protein targeting	1
establishment of protein localization to membrane	1
innate immune response	1
defense response to virus	1
NLRP3 inflammasome complex assembly	1
positive regulation of inflammasome-mediated signaling pathway	1
regulation of NLRP3 inflammasome complex assembly	1
regulation of protein oligomerization	1
protein complex oligomerization	1
canonical inflammasome complex assembly	1
protein localization to endosome	1
positive regulation of protein localization	1
regulation of protein localization to endosome	1
nucleic acid binding	1
acyltransferase activity, transferring groups other than amino-acyl groups	1
palmitoyltransferase activity	1
protein-cysteine S-acyltransferase activity	1
binding	1
catalytic activity	1
transferase activity	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
endosome	1
cytoplasmic vesicle membrane	1
bounding membrane of organelle	1
extracellular vesicle	1
cytoplasmic vesicle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

360 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZDHHC1	ZDHHC13	Q8IUH4	634
ZDHHC1	ZDHHC22	Q8N966	621
ZDHHC1	RNF5	Q99942	529
ZDHHC1	AMFR	P26442	510
ZDHHC1	NLRC3	Q7RTR2	499
ZDHHC1	RNF26	Q9BY78	493
ZDHHC1	TRIM56	Q9BRZ2	483
ZDHHC1	PPT1	P50897	472
ZDHHC1	ZDHHC24	Q6UX98	459
ZDHHC1	LYPLA2	O95372	421
ZDHHC1	PPM1A	P35813	416
ZDHHC1	NLRX1	Q86UT6	405
ZDHHC1	ZDHHC3	Q9NYG2	403
ZDHHC1	GOLGA7	Q7Z5G4	380
ZDHHC1	LRRC36	Q1X8D7	373

IntAct

49 interactions, top by confidence:

A	B	Type	Score
ZDHHC1	KRTAP2-4	psi-mi:“MI:0915”(physical association)	0.560
ZDHHC1	MDFI	psi-mi:“MI:0915”(physical association)	0.560
KRT31	ZDHHC1	psi-mi:“MI:0915”(physical association)	0.560
KRT34	ZDHHC1	psi-mi:“MI:0915”(physical association)	0.560
ZDHHC1	KRTAP9-2	psi-mi:“MI:0915”(physical association)	0.560
NOTCH2NLC	ZDHHC1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP12-2	ZDHHC1	psi-mi:“MI:0915”(physical association)	0.560
CYSRT1	ZDHHC1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-8	ZDHHC1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP12-3	ZDHHC1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP1-3	ZDHHC1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP1-1	ZDHHC1	psi-mi:“MI:0915”(physical association)	0.560
ZDHHC1	KRTAP17-1	psi-mi:“MI:0915”(physical association)	0.560
KRT83	ZDHHC1	psi-mi:“MI:0915”(physical association)	0.560
ZDHHC1	GOPC	psi-mi:“MI:0915”(physical association)	0.560
ZDHHC1	PIK3CA	psi-mi:“MI:0914”(association)	0.530
ZDHHC1	MTA2	psi-mi:“MI:0914”(association)	0.350
ZDHHC1	KRTAP2-4	psi-mi:“MI:0915”(physical association)	0.000
ZDHHC1	MDFI	psi-mi:“MI:0915”(physical association)	0.000
ZDHHC1	KRT31	psi-mi:“MI:0915”(physical association)	0.000
ZDHHC1	KRT34	psi-mi:“MI:0915”(physical association)	0.000
ZDHHC1	KRTAP9-2	psi-mi:“MI:0915”(physical association)	0.000
ZDHHC1	GOPC	psi-mi:“MI:0915”(physical association)	0.000
ZDHHC1	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (30): PIK3CA (Affinity Capture-MS), TAOK2 (Affinity Capture-MS), LGR4 (Affinity Capture-MS), PIK3CB (Affinity Capture-MS), DDI2 (Affinity Capture-MS), MTA2 (Affinity Capture-MS), ZDHHC1 (Two-hybrid), ZDHHC1 (Two-hybrid), ZDHHC1 (Two-hybrid), ZDHHC1 (Two-hybrid), KRT83 (Two-hybrid), KRTAP17-1 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP1-1 (Two-hybrid), CYSRT1 (Two-hybrid)

ESM2 similar proteins: A0A5N6H279, A4D2B8, D3ZML2, O76081, O91531, P03327, P0C678, P0C733, P79348, Q00731, Q09PK2, Q13670, Q1HVB5, Q1ZZU3, Q4KL35, Q4R1S1, Q52993, Q5JLA7, Q5JN07, Q5MFW3, Q63553, Q64902, Q6DN03, Q6NUI1, Q6P050, Q6SW81, Q86UQ5, Q8AZJ3, Q8BG31, Q8BVZ5, Q8CE90, Q8CEZ0, Q8K3M5, Q8LN49, Q8N5Z5, Q8TE04, Q8VDU5, Q8WTX9, Q8WXT5, Q9BTV7

Diamond homologs: E7EZI4, E7F4Z4, P0C7U3, Q14AK4, Q8R0N9, Q8WTX9, Q9H8X9, Q8L5Y5, Q6DR03, Q9C533, Q9LIE4, Q9M115, Q52T38, A0A0R4IQZ2, A2VEY9, B3DN87, C8VCL4, E1BLT8, E7F021, E9QCD3, F1QAM1, F1QXD3, F1R013, O60069, O74384, P0CS66, P0CS67, P59267, P59268, Q04629, Q09701, Q10L01, Q2TGJ1, Q2TGJ4, Q2THW7, Q2THW8, Q2THW9, Q2THX0, Q2THX1, Q4I8B6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 17 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
Keratinization	11	40.9×	6e-15

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	78
Likely benign	7
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2165 predictions. Top by Δscore:

Variant	Effect	Δscore
16:67394996:GCTCA:G	donor_loss	1.0000
16:67394997:CTCA:C	donor_loss	1.0000
16:67394998:TCA:T	donor_loss	1.0000
16:67394999:CACC:C	donor_loss	1.0000
16:67395000:AC:A	donor_gain	1.0000
16:67395001:CC:C	donor_gain	1.0000
16:67395281:C:CC	acceptor_gain	1.0000
16:67395480:TCACT:T	donor_loss	1.0000
16:67395481:CA:C	donor_loss	1.0000
16:67395482:A:AC	donor_gain	1.0000
16:67395482:AC:A	donor_loss	1.0000
16:67395483:C:CA	donor_gain	1.0000
16:67395483:CTTGG:C	donor_gain	1.0000
16:67398206:CTATA:C	donor_loss	1.0000
16:67398207:TATA:T	donor_loss	1.0000
16:67398208:ATAC:A	donor_loss	1.0000
16:67398209:TAC:T	donor_loss	1.0000
16:67398210:AC:A	donor_loss	1.0000
16:67398211:CCT:C	donor_loss	1.0000
16:67398320:CCACA:C	acceptor_gain	1.0000
16:67398321:CACA:C	acceptor_gain	1.0000
16:67398321:CACAC:C	acceptor_gain	1.0000
16:67398323:CA:C	acceptor_gain	1.0000
16:67398325:C:CC	acceptor_gain	1.0000
16:67398566:CACTT:C	donor_loss	1.0000
16:67398567:ACTTA:A	donor_loss	1.0000
16:67398568:CTTAC:C	donor_loss	1.0000
16:67398569:TTA:T	donor_loss	1.0000
16:67398570:TA:T	donor_loss	1.0000
16:67398571:A:AC	donor_gain	1.0000

AlphaMissense

3110 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:67398938:A:C	F179L	1.000
16:67398938:A:T	F179L	1.000
16:67398940:A:G	F179L	1.000
16:67399360:G:C	N175K	1.000
16:67399360:G:T	N175K	1.000
16:67399370:C:A	G172V	1.000
16:67399370:C:T	G172D	1.000
16:67399371:C:A	G172C	1.000
16:67399375:A:C	C170W	1.000
16:67399376:C:T	C170Y	1.000
16:67399378:G:C	N169K	1.000
16:67399378:G:T	N169K	1.000
16:67399381:G:C	N168K	1.000
16:67399381:G:T	N168K	1.000
16:67399389:A:G	W166R	1.000
16:67399389:A:T	W166R	1.000
16:67399393:G:C	C164W	1.000
16:67399394:C:A	C164F	1.000
16:67399394:C:T	C164Y	1.000
16:67399395:A:G	C164R	1.000
16:67399396:G:C	H163Q	1.000
16:67399396:G:T	H163Q	1.000
16:67399398:G:C	H163D	1.000
16:67399399:G:C	H162Q	1.000
16:67399399:G:T	H162Q	1.000
16:67399401:G:C	H162D	1.000
16:67399405:G:C	F160L	1.000
16:67399405:G:T	F160L	1.000
16:67399406:A:C	F160C	1.000
16:67399407:A:G	F160L	1.000

dbSNP variants (sampled 300 via entrez): RS1000177730 (16:67394562 A>G), RS1000179875 (16:67398064 A>C), RS1000228402 (16:67400966 T>C), RS1000781587 (16:67399448 C>A,T), RS1000787556 (16:67407348 C>T), RS1000964395 (16:67399598 C>G,T), RS1000976787 (16:67404038 G>C), RS1001020863 (16:67417618 C>A,T), RS1001044303 (16:67411859 T>G), RS1001138088 (16:67410056 G>A), RS1001581820 (16:67395818 C>A,T), RS1001590813 (16:67418172 G>A), RS1001611528 (16:67399132 C>T), RS1001688419 (16:67401422 T>C), RS1001818963 (16:67405381 C>T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST004518_2	Waist-to-hip ratio adjusted for body mass index	5.000000e-08
GCST005751_5	Empathy quotient	8.000000e-07
GCST009377_8	Bone mineral density	9.000000e-07
GCST010002_113	Refractive error	2.000000e-14
GCST010989_14	Body size at age 10	3.000000e-16

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0009183	empathy measurement
EFO:0007620	volumetric bone mineral density
EFO:0009819	comparative body size at age 10, self-reported

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	increases abundance, increases expression	2
Smoke	increases expression, decreases expression, increases abundance	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, decreases methylation	1
beta-lapachone	decreases expression	1
bisphenol S	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Vehicle Emissions	increases methylation	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Cisplatin	decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Estradiol	decreases expression	1
Formaldehyde	increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Cadmium Chloride	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_TY62	HAP1 ZDHHC1 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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