PATL1

Summary

PATL1 (PAT1 homolog 1, processing body mRNA decay factor, HGNC:26721) is a protein-coding gene on chromosome 11q12.1, encoding Protein PAT1 homolog 1 (Q86TB9). RNA-binding protein involved in deadenylation-dependent decapping of mRNAs, leading to the degradation of mRNAs.

Enables poly(G) binding activity and poly(U) RNA binding activity. Involved in P-body assembly and deadenylation-dependent decapping of nuclear-transcribed mRNA. Located in CCR4-NOT complex; P-body; and cytosol.

Source: NCBI Gene 219988 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 114 total
• MANE Select transcript: NM_152716

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26721
Approved symbol	PATL1
Name	PAT1 homolog 1, processing body mRNA decay factor
Location	11q12.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ36874, Pat1b
Ensembl gene	ENSG00000166889
Ensembl biotype	protein_coding
OMIM	614660
Entrez	219988

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 retained_intron

ENST00000300146, ENST00000531919, ENST00000894771, ENST00000894772, ENST00000894773, ENST00000894774, ENST00000940124, ENST00000940125

RefSeq mRNA: 1 — MANE Select: NM_152716 NM_152716

CCDS: CCDS44613

Canonical transcript exons

ENST00000300146 — 19 exons

Exon	Start	End
ENSE00001269835	59639048	59639197
ENSE00001269844	59639292	59639383
ENSE00001365809	59658866	59658946
ENSE00001635740	59647754	59647913
ENSE00001641318	59655956	59656045
ENSE00001646148	59655523	59655740
ENSE00001688086	59657530	59657724
ENSE00001714261	59642880	59643035
ENSE00001730207	59666853	59666964
ENSE00001732285	59649462	59649610
ENSE00001779134	59656499	59656600
ENSE00001783089	59659252	59659469
ENSE00002171154	59668881	59669037
ENSE00002181907	59636716	59638411
ENSE00003265562	59651544	59651641
ENSE00003390402	59652464	59652587
ENSE00003424254	59653983	59654072
ENSE00003446946	59650754	59650813
ENSE00003450674	59652838	59653018

Expression profiles

Bgee: expression breadth ubiquitous, 252 present calls, max score 95.09.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.5603 / max 545.6951, expressed in 1816 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
119876	22.5603	1816

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ileal mucosa	UBERON:0000331	95.09	gold quality
tibialis anterior	UBERON:0001385	94.29	gold quality
secondary oocyte	CL:0000655	93.03	gold quality
gastrocnemius	UBERON:0001388	92.07	gold quality
hindlimb stylopod muscle	UBERON:0004252	91.83	gold quality
monocyte	CL:0000576	91.82	gold quality
muscle of leg	UBERON:0001383	91.77	gold quality
cardiac muscle of right atrium	UBERON:0003379	91.66	gold quality
leukocyte	CL:0000738	91.61	gold quality
deltoid	UBERON:0001476	90.92	gold quality
skeletal muscle organ	UBERON:0014892	90.91	gold quality
cartilage tissue	UBERON:0002418	89.94	gold quality
bone marrow cell	CL:0002092	89.47	gold quality
colonic epithelium	UBERON:0000397	89.41	gold quality
ventricular zone	UBERON:0003053	89.29	gold quality
smooth muscle tissue	UBERON:0001135	89.13	gold quality
rectum	UBERON:0001052	89.09	gold quality
stromal cell of endometrium	CL:0002255	89.03	gold quality
tendon of biceps brachii	UBERON:0008188	88.92	gold quality
left ventricle myocardium	UBERON:0006566	88.78	silver quality
vermiform appendix	UBERON:0001154	88.51	gold quality
metanephros cortex	UBERON:0010533	88.43	gold quality
islet of Langerhans	UBERON:0000006	88.29	gold quality
skeletal muscle tissue	UBERON:0001134	88.18	gold quality
muscle tissue	UBERON:0002385	88.16	gold quality
blood	UBERON:0000178	88.04	gold quality
ectocervix	UBERON:0012249	87.89	gold quality
quadriceps femoris	UBERON:0001377	87.84	gold quality
oocyte	CL:0000023	87.79	gold quality
body of uterus	UBERON:0009853	87.75	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.97

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

132 targeting PATL1, 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-6867-5P	100.00	82.21	3464
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-3667-3P	99.99	67.17	1636
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-548C-3P	99.99	74.01	7587
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-651-3P	99.94	73.48	5177

Literature-anchored findings (GeneRIF, showing 10)

• The identification of two human PAT1 genes is described and one of them, PATL1, codes for an open reading frame with similar features as the yeast PAT1. (PMID:17936923)
• Data show that PatL1 is essential for the interaction with mRNA decapping factors (i.e. DCP2, EDC4 and LSm1-7), whereas the P-rich region and Mid domain have distinct functions in modulating these interactions. (PMID:20543818)
• By tethering Pat1b to a reporter mRNA, the study provides evidence that Pat1b is also functionally linked to both deadenylation and decapping. (PMID:20584987)
• hPat1b localizes to P-bodies, while mPat1a-GFP is either found weakly in P-bodies or disperses P-bodies in a dominant-negative fashion. (PMID:20826699)
• Pat1b represses gene expression by inducing deadenylation of the mRNAs. (PMID:20852261)
• Pat1b participates in several RNA-related nuclear processes in addition to its multiple regulatory roles in the cytoplasm (PMID:22090346)
• The PATL1 as well as DCP1A, a well-known P-body marker, co-localized with a subset of ALG-2. (PMID:22437941)
• data indicate that P-body assembly occurs in a step-wise manner, where Rck participates in the initial suppression of mRNA translation, whereas Pat1b in a second step triggers P-body assembly and promotes mRNA decapping (PMID:23535175)
• evidence for a nuclear complex of Pat1b with the Lsm2-8 heptamer, which binds to the spliceosomal U6 small nuclear RNA (snRNA). (PMID:28768202)
• Another decapping activator PatL1 directly interacts with CIR and alleviates the CIR-mediated inhibition of CCR4-NOT activity in vitro. Ribosome profiling revealed that XRN1 loss impacts not only on mRNA levels but also on the translational efficiency of many cellular transcripts likely as a consequence of incomplete decay (PMID:31340047)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	patl1	ENSDARG00000017423
mus_musculus	Patl1	ENSMUSG00000046139
rattus_norvegicus	Patl1	ENSRNOG00000021052
drosophila_melanogaster	Patr-1	FBGN0266053
caenorhabditis_elegans		WBGENE00009661

Paralogs (1): PATL2 (ENSG00000229474)

Protein

Protein identifiers

Protein PAT1 homolog 1 — Q86TB9 (reviewed: Q86TB9)

Alternative names: PAT1-like protein 1, Protein PAT1 homolog b

All UniProt accessions (1): Q86TB9

UniProt curated annotations — full annotation on UniProt →

Function. RNA-binding protein involved in deadenylation-dependent decapping of mRNAs, leading to the degradation of mRNAs. Acts as a scaffold protein that connects deadenylation and decapping machinery. Required for cytoplasmic mRNA processing body (P-body) assembly. (Microbial infection) In case of infection, required for translation and replication of hepatitis C virus (HCV).

Subunit / interactions. Interacts (via region A) with DDX6/RCK. Interacts (via region H and region C) with LSM1 and LSM4. Interacts (via region N) with DCP1A, DCP2, EDC3, EDC4 and XRN1. Interacts with the CCR4-NOT complex. Interacts with the Lsm-containing SMN-Sm protein complex. Interacts with EIF4ENIF1/4E-T. Interacts with HELZ.

Subcellular location. Cytoplasm. P-body. Nucleus. PML body. Nucleus speckle.

Tissue specificity. Ubiquitous.

Domain organisation. The region A, also named N-term, mediates the interaction with DDX6/RCK and is required for cytoplasmic mRNA processing body assembly. The region C, also named Pat-C, is required for RNA-binding and mediates the binding with the Lsm-containing SMN-Sm protein complex and the decapping machinery. It folds into an alpha-alpha superhelix, exposing conserved and basic residues on one side of the domain.

Similarity. Belongs to the PAT1 family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q86TB9-1	1	yes
Q86TB9-2	2
Q86TB9-3	3
Q86TB9-4	4

RefSeq proteins (1): NP_689929* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019167	PAT1_dom	Domain
IPR039900	Pat1-like	Family

Pfam: PF09770

UniProt features (69 total): helix 17, mutagenesis site 15, modified residue 11, region of interest 10, compositionally biased region 5, splice variant 4, sequence conflict 2, turn 2, chain 1, short sequence motif 1, strand 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
2XES	X-RAY DIFFRACTION	2.1
2XER	X-RAY DIFFRACTION	2.95
2XEQ	X-RAY DIFFRACTION	3.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86TB9-F1	61.75	0.27

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 (11): 177, 178, 179, 184, 194, 217, 223, 263, 278, 284, 385

Mutagenesis-validated functional residues (15):

Position	Phenotype
86	loss of nuclear export; when associated with a-90, a-93 and a-95.
90	loss of nuclear export; when associated with a-86, a-93 and a-95.
93	loss of nuclear export; when associated with a-86, a-90 and a-95.
95	loss of nuclear export; when associated with a-86, a-90 and a-93.
519	in mut1; abolishes rna-binding, localization to p-body and interaction with the decapping machinery; when associated wit
520	in mut1; abolishes rna-binding, localization to p-body and interaction with the decapping machinery; when associated wit
523	in mut2; abolishes interaction with the decapping machinery and localization to p-body; when associated with a-527; a-53
527	in mut2; abolishes interaction with the decapping machinery and localization to p-body; when associated with s-523; a-53
530	in mut2; abolishes interaction with the decapping machinery and localization to p-body; when associated with s-523; a-52
534	in mut2; abolishes interaction with the decapping machinery and localization to p-body; when associated with s-523; a-52
539–557	in mut3; does not affect neither rna-binding,interaction with the decapping machinery, nor localization to p-body.
591	in mut1; abolishes rna-binding, localization to p-body and interaction with the decapping machinery; when associated wit
595	in mut1; abolishes rna-binding, localization to p-body and interaction with the decapping machinery; when associated wit
625	in mut1; abolishes rna-binding, localization to p-body and interaction with the decapping machinery; when associated wit
626	in mut1; abolishes rna-binding, localization to p-body and interaction with the decapping machinery; when associated wit

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-430039	mRNA decay by 5’ to 3’ exoribonuclease

MSigDB gene sets: 172 (showing top): GOBP_P_BODY_ASSEMBLY, HNF3ALPHA_Q6, GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, AAGCCAT_MIR135A_MIR135B, MAZ_Q6, REACTOME_MRNA_DECAY_BY_5_TO_3_EXORIBONUCLEASE, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, CAGCTG_AP4_Q5, GGCNKCCATNK_UNKNOWN, SREBP1_02, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, SRF_C, INAMURA_LUNG_CANCER_SCC_SUBTYPES_UP, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS

GO Biological Process (2): deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290), P-body assembly (GO:0033962)

GO Molecular Function (4): RNA binding (GO:0003723), poly(U) RNA binding (GO:0008266), poly(G) binding (GO:0034046), protein binding (GO:0005515)

GO Cellular Component (8): P-body (GO:0000932), cytosol (GO:0005829), PML body (GO:0016605), nuclear speck (GO:0016607), cytoplasmic ribonucleoprotein granule (GO:0036464), nucleus (GO:0005634), cytoplasm (GO:0005737), CCR4-NOT complex (GO:0030014)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Deadenylation-dependent mRNA decay	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	2
cellular anatomical structure	2
nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay	1
nuclear-transcribed mRNA catabolic process	1
mRNA methylguanosine-cap decapping	1
membraneless organelle assembly	1
nucleic acid binding	1
poly-pyrimidine tract binding	1
poly-purine tract binding	1
binding	1
cytoplasmic ribonucleoprotein granule	1
nuclear body	1
nuclear ribonucleoprotein granule	1
ribonucleoprotein granule	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
intracellular protein-containing complex	1

Protein interactions and networks

STRING

1344 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PATL1	LSM1	O15116	969
PATL1	DDX6	P26196	966
PATL1	XRN1	Q8IZH2	965
PATL1	EDC3	Q96F86	893
PATL1	LSM14A	Q8ND56	835
PATL1	DCP1A	Q9NPI6	793
PATL1	CNOT1	A5YKK6	782
PATL1	EIF4ENIF1	Q9NRA8	778
PATL1	DCP2	Q8IU60	765
PATL1	EDC4	Q6P2E9	728
PATL1	AGO2	Q9UKV8	652
PATL1	GIGYF1	O75420	642
PATL1	LSM2	Q9Y333	639
PATL1	DDX3X	O00571	609
PATL1	LSM14B	Q9BX40	586

IntAct

142 interactions, top by confidence:

A	B	Type	Score
LSM3	LSM1	psi-mi:“MI:0914”(association)	0.950
LSM1	LSM6	psi-mi:“MI:0914”(association)	0.840
LSM6	LSM1	psi-mi:“MI:0914”(association)	0.840
PATL1	DDX6	psi-mi:“MI:0915”(physical association)	0.820
DDX6	PATL1	psi-mi:“MI:0403”(colocalization)	0.820
LSM1	PATL1	psi-mi:“MI:0915”(physical association)	0.770
PATL1	LSM1	psi-mi:“MI:0914”(association)	0.770
PATL1	LSM1	psi-mi:“MI:0915”(physical association)	0.770
PATL1	LSM6	psi-mi:“MI:0915”(physical association)	0.740
LSM6	PATL1	psi-mi:“MI:0915”(physical association)	0.740
GOLGA2	PATL1	psi-mi:“MI:0915”(physical association)	0.720
PATL1	FHL3	psi-mi:“MI:0915”(physical association)	0.720
FHL3	PATL1	psi-mi:“MI:0915”(physical association)	0.720

BioGRID (261): PATL1 (Two-hybrid), PATL1 (Two-hybrid), PATL1 (Two-hybrid), DDX6 (Affinity Capture-Western), PATL1 (Affinity Capture-MS), PATL1 (Affinity Capture-MS), PATL1 (Co-fractionation), PATL1 (Co-fractionation), PRPF3 (Co-fractionation), PATL1 (Reconstituted Complex), PATL1 (Affinity Capture-MS), PATL1 (Affinity Capture-MS), PATL1 (Affinity Capture-MS), PATL1 (Affinity Capture-MS), PATL1 (Affinity Capture-MS)

ESM2 similar proteins: A0JM64, A4IHD9, B5DF93, D3ZTQ1, E7F1H9, O70305, P70501, Q12872, Q13625, Q2NLB0, Q2T9I5, Q32SG5, Q3TC46, Q3TCX3, Q3USH5, Q498K9, Q566L7, Q5R413, Q5R8Q4, Q5SFM8, Q5T8P6, Q5ZL54, Q62415, Q66IJ0, Q68FI1, Q6DDU9, Q6GP15, Q6NXI6, Q6NZ18, Q6NZN0, Q6PEH8, Q7Z7F0, Q86TB9, Q8BG81, Q8CG79, Q8CGC4, Q8IZD4, Q8K2F8, Q8ND56, Q8R205

Diamond homologs: A2ARM1, A2RRV3, B5DEB9, B5DF93, C9JE40, Q32N92, Q3TC46, Q4V7K4, Q5R8Q4, Q86TB9

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 94 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
mRNA decay by 5’ to 3’ exoribonuclease	12	142.8×	6e-23
Deadenylation of mRNA	5	34.3×	2e-05
M-decay: degradation of maternal mRNAs by maternally stored factors	5	25.5×	7e-05
SARS-CoV-2 modulates host translation machinery	5	17.5×	3e-04
mRNA Splicing	10	17.2×	3e-08
Translation initiation complex formation	5	14.9×	6e-04
Processing of Capped Intron-Containing Pre-mRNA	10	12.8×	4e-07
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	6	11.0×	5e-04

GO biological processes:

GO term	Partners	Fold	FDR
P-body assembly	5	62.0×	3e-06
cytoplasmic translation	6	13.1×	3e-04
mRNA splicing, via spliceosome	12	12.9×	7e-08
negative regulation of translation	5	11.5×	2e-03
mRNA processing	9	8.3×	1e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	81
Likely benign	5
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

2389 predictions. Top by Δscore:

Variant	Effect	Δscore
11:59639046:A:AC	donor_gain	1.0000
11:59639047:C:CC	donor_gain	1.0000
11:59639291:CCA:C	donor_gain	1.0000
11:59639379:CCAAA:C	acceptor_gain	1.0000
11:59639380:CAAAC:C	acceptor_gain	1.0000
11:59639384:C:CC	acceptor_gain	1.0000
11:59647740:T:C	donor_gain	1.0000
11:59647758:T:C	donor_gain	1.0000
11:59649456:GCTTA:G	donor_loss	1.0000
11:59649457:CTTA:C	donor_loss	1.0000
11:59649458:TTAC:T	donor_loss	1.0000
11:59649459:TACC:T	donor_loss	1.0000
11:59649460:A:AC	donor_gain	1.0000
11:59649460:ACCTC:A	donor_loss	1.0000
11:59649461:C:CC	donor_gain	1.0000
11:59649461:C:CT	donor_loss	1.0000
11:59649461:CCT:C	donor_gain	1.0000
11:59649461:CCTCT:C	donor_gain	1.0000
11:59649606:TAGGT:T	acceptor_gain	1.0000
11:59649607:AGGT:A	acceptor_gain	1.0000
11:59649608:GGT:G	acceptor_gain	1.0000
11:59649609:GT:G	acceptor_gain	1.0000
11:59649611:C:CC	acceptor_gain	1.0000
11:59650747:AACTT:A	donor_loss	1.0000
11:59650749:CT:C	donor_loss	1.0000
11:59650750:TT:T	donor_loss	1.0000
11:59650752:A:AC	donor_gain	1.0000
11:59650753:C:CA	donor_gain	1.0000
11:59650753:CT:C	donor_gain	1.0000
11:59650753:CTTT:C	donor_gain	1.0000

AlphaMissense

5040 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:59647869:C:T	G593E	1.000
11:59647870:C:A	G593W	1.000
11:59647870:C:G	G593R	1.000
11:59647870:C:T	G593R	1.000
11:59647871:T:A	K592N	1.000
11:59647871:T:G	K592N	1.000
11:59647872:T:A	K592I	1.000
11:59650758:T:A	E527V	1.000
11:59650770:A:G	L523P	1.000
11:59651578:A:C	I497S	1.000
11:59651578:A:T	I497N	1.000
11:59651587:C:G	R494P	1.000
11:59651588:G:C	R494G	1.000
11:59651590:G:A	P493L	1.000
11:59651590:G:C	P493R	1.000
11:59651590:G:T	P493H	1.000
11:59651591:G:A	P493S	1.000
11:59651591:G:T	P493T	1.000
11:59651599:A:T	V490E	1.000
11:59651601:A:C	S489R	1.000
11:59651601:A:T	S489R	1.000
11:59651603:T:G	S489R	1.000
11:59651614:A:G	L485P	1.000
11:59651614:A:T	L485H	1.000
11:59651620:C:A	G483V	1.000
11:59651620:C:T	G483E	1.000
11:59651621:C:G	G483R	1.000
11:59651621:C:T	G483R	1.000
11:59651623:A:C	L482W	1.000
11:59651623:A:G	L482S	1.000

dbSNP variants (sampled 300 via entrez): RS1000041207 (11:59642766 T>G), RS1000096781 (11:59650125 A>G), RS1000150316 (11:59639398 A>G), RS1000502710 (11:59655066 C>T), RS1000567887 (11:59647210 A>T), RS1000618851 (11:59654701 G>A,C,T), RS1000624764 (11:59668395 A>G), RS1000626499 (11:59649185 G>A), RS1000931310 (11:59667634 C>T), RS1001169457 (11:59640805 G>A), RS1001189594 (11:59647529 G>C), RS1001209809 (11:59642175 G>A), RS1001236958 (11:59657789 C>T), RS1001310347 (11:59649760 A>G), RS1001686987 (11:59648794 C>T)

Disease associations

OMIM: gene MIM:614660 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Nickel	increases expression	2
Dronabinol	increases expression	2
Valproic Acid	affects expression, affects cotreatment, decreases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
FR900359	affects phosphorylation	1
ginger extract	increases abundance, increases expression	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
bisphenol A	increases expression	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects 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
torcetrapib	increases expression	1
abrine	increases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
bisphenol S	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Acetaminophen	decreases expression	1
Arsenic	increases methylation	1
Benzo(a)pyrene	decreases methylation	1
Cadmium	decreases expression, increases abundance	1
Carbamazepine	affects expression	1
Demecolcine	decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Doxorubicin	decreases 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_B2A1	Abcam HeLa PATL1 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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