MPLKIP

Summary

MPLKIP (M-phase specific PLK1 interacting protein, HGNC:16002) is a protein-coding gene on chromosome 7p14.1, encoding M-phase-specific PLK1-interacting protein (Q8TAP9). May play a role in maintenance of cell cycle integrity by regulating mitosis or cytokinesis.

The protein encoded by this gene localizes to the centrosome during mitosis and to the midbody during cytokinesis. The protein is phosphorylated by cyclin-dependent kinase 1 during mitosis and subsequently interacts with polo-like kinase 1. The protein is thought to function in regulating mitosis and cytokinesis. Mutations in this gene result in nonphotosensitive trichothiodystrophy.

Source: NCBI Gene 136647 — RefSeq curated summary.

At a glance

• Gene–disease (curated): trichothiodystrophy 4, nonphotosensitive (Definitive, GenCC) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 153 total — 15 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 110
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_138701

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16002
Approved symbol	MPLKIP
Name	M-phase specific PLK1 interacting protein
Location	7p14.1
Locus type	gene with protein product
Status	Approved
Aliases	ORF20, TTDN1
Ensembl gene	ENSG00000168303
Ensembl biotype	protein_coding
OMIM	609188
Entrez	136647

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000306984

RefSeq mRNA: 1 — MANE Select: NM_138701 NM_138701

CCDS: CCDS5463

Canonical transcript exons

ENST00000306984 — 2 exons

Exon	Start	End
ENSE00001176995	40134229	40134622
ENSE00001302245	40126027	40133259

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 96.30.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.0801 / max 164.3006, expressed in 1819 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
83729	35.6597	1818
83728	1.4204	852

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
kidney epithelium	UBERON:0004819	96.30	silver quality
upper arm skin	UBERON:0004263	94.15	gold quality
superior surface of tongue	UBERON:0007371	93.72	gold quality
renal medulla	UBERON:0000362	93.70	gold quality
ileal mucosa	UBERON:0000331	93.35	gold quality
thymus	UBERON:0002370	93.32	gold quality
pericardium	UBERON:0002407	93.18	gold quality
tongue	UBERON:0001723	93.15	gold quality
adult organism	UBERON:0007023	93.14	gold quality
buccal mucosa cell	CL:0002336	93.09	gold quality
pharyngeal mucosa	UBERON:0000355	93.09	gold quality
body of tongue	UBERON:0011876	92.57	gold quality
mucosa of sigmoid colon	UBERON:0004993	92.38	gold quality
colonic mucosa	UBERON:0000317	92.19	gold quality
pylorus	UBERON:0001166	92.17	gold quality
trachea	UBERON:0003126	92.17	gold quality
saphenous vein	UBERON:0007318	91.99	gold quality
vena cava	UBERON:0004087	91.75	gold quality
cardia of stomach	UBERON:0001162	91.36	gold quality
oral cavity	UBERON:0000167	91.05	gold quality
mucosa of paranasal sinus	UBERON:0005030	91.05	gold quality
epithelium of nasopharynx	UBERON:0001951	91.04	gold quality
bronchus	UBERON:0002185	90.92	gold quality
bronchial epithelial cell	CL:0002328	90.91	gold quality
mammary duct	UBERON:0001765	90.84	gold quality
pons	UBERON:0000988	90.82	gold quality
nipple	UBERON:0002030	90.79	gold quality
epithelium of mammary gland	UBERON:0003244	90.73	gold quality
urethra	UBERON:0000057	90.45	gold quality
penis	UBERON:0000989	90.39	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-6819	no	272.82
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

40 targeting MPLKIP, 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-4768-5P	100.00	69.49	2861
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-8076	99.78	68.52	1170
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-379-3P	99.69	69.60	1524
HSA-MIR-411-3P	99.69	69.63	1524
HSA-MIR-378A-5P	99.65	66.33	1311
HSA-MIR-7159-5P	99.53	72.12	2472
HSA-MIR-520A-5P	99.35	66.72	1632
HSA-MIR-525-5P	99.35	66.85	1615
HSA-MIR-520F-5P	99.34	70.40	1632
HSA-MIR-642A-3P	99.23	67.67	1258
HSA-MIR-642B-3P	99.23	67.67	1258
HSA-MIR-3973	99.20	69.19	1990
HSA-MIR-3675-3P	99.09	67.70	968
HSA-MIR-4326	98.97	67.63	962
HSA-MIR-520G-3P	98.91	67.38	1914
HSA-MIR-520H	98.91	67.38	1914
HSA-MIR-2115-5P	98.66	68.07	1191

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 11)

• Given the absence of cutaneous photosensitivity in the patients with C7orf11 mutations, together with the protein’s nuclear localization, C7orf11 may be involved in transcription but not DNA repair. (PMID:15645389)
• Reported mutations in Trichothiodystrophy do not affect TTDN1 response to ultraviolet (UV) light or the steady state level of the repair/transcription factor IIH (TFIIH), which is central to the onset of the photosensitive form of TTD. (PMID:16977596)
• TTDN1 is phosphorylated in mitosis, and this is required for its interaction with polo-like kinase 1. (PMID:17310276)
• There is a distinct phenotype relationship in trichothiodystrophy caused by TTDN1 mutations. (PMID:25290684)
• A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred (PMID:26518168)
• This study extends the allelic and phenotypic spectra of MPLKIP-related trichothiodystrophy, to include a splice variant that causes cardiomyopathy as part of the trichothiodystrophy phenotype. (PMID:26880286)
• Chromosome microarray analysis showed a 125kb homozygous pathogenic deletion, which includes genes MPLKIP and SUGCT, not described before. This is the first case described in Peru of a novel contiguous gene deletion of Trichothiodystrophy type 4 and Glutaric aciduria type 3 performed by chromosome microarray analysis. (PMID:29421601)
• Trichothiodystrophy type 4 in an Indian family. (PMID:33043633)
• A novel MPLKIP-variant in three Finnish patients with non-photosensitive trichothiodystrophy type 4. (PMID:33729667)
• Activation of human RNA lariat debranching enzyme Dbr1 by binding protein TTDN1 occurs though an intrinsically disordered C-terminal domain. (PMID:37507019)
• Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation. (PMID:37800682)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	mplkip	ENSDARG00000078986
mus_musculus	Mplkip	ENSMUSG00000012429
mus_musculus	Mplkipl1	ENSMUSG00000094649
rattus_norvegicus	Mplkip	ENSRNOG00000013806

Protein

Protein identifiers

M-phase-specific PLK1-interacting protein — Q8TAP9 (reviewed: Q8TAP9)

Alternative names: TTD non-photosensitive 1 protein

All UniProt accessions (2): A4D1W6, Q8TAP9

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in maintenance of cell cycle integrity by regulating mitosis or cytokinesis.

Subunit / interactions. Interacts with PLK1; phosphorylation-dependent.

Subcellular location. Nucleus. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome.

Tissue specificity. Expressed at highest levels in liver and kidney; intermediate expression in skeletal muscle, pancreas, heart and placenta; low expression in brain and lung. Expressed in epidermis and hair follicles.

Post-translational modifications. Phosphorylated during mitosis in the cell cycle probably by CDK1.

Disease relevance. Trichothiodystrophy 4, non-photosensitive (TTD4) [MIM:234050] A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD4 patients do not manifest cutaneous photosensitivity. The disease is caused by variants affecting the gene represented in this entry.

RefSeq proteins (1): NP_619646* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026618	MPLKIP-like_vertebrate	Family
IPR028265	TTDN1/SICKLE	Family

Pfam: PF15502

UniProt features (28 total): modified residue 18, compositionally biased region 3, mutagenesis site 3, sequence variant 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TAP9-F1	57.39	0.03

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): 59, 68, 72, 77, 80, 82, 93, 104, 115, 117, 120, 124, 133, 37, 40, 47, 51, 57

Mutagenesis-validated functional residues (3):

Position	Phenotype
93	partially prevents phosphorylation.
104	has no effect on interaction with plk1 in mitosis. partially prevents phosphorylation.
120	abolishes interaction with plk1 in mitosis.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 352 (showing top): GOCC_MICROTUBULE_ORGANIZING_CENTER, GOCC_CENTROSOME, AACTTT_UNKNOWN, IK3_01, ACEVEDO_LIVER_CANCER_UP, GTCAGGA_MIR378, AR_01, GOBP_CELL_DIVISION, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, GOCC_MIDBODY, CDC5_01, MARTENS_TRETINOIN_RESPONSE_DN, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A, BRUINS_UVC_RESPONSE_LATE

GO Biological Process (1): cell division (GO:0051301)

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

GO Cellular Component (7): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), centrosome (GO:0005813), midbody (GO:0030496), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
intracellular membrane-bounded organelle	2
cellular process	1
binding	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
endomembrane system	1
centriole	1
microtubule organizing center	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

592 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MPLKIP	SUGCT	Q9HAC7	986
MPLKIP	FAM3B	P58499	784
MPLKIP	GTF2H5	Q6ZYL4	719
MPLKIP	FAM120C	Q9NX05	719
MPLKIP	DNAJC28	Q9NX36	717
MPLKIP	RNF113A	O15541	708
MPLKIP	CWC15	Q9P013	582
MPLKIP	CTTNBP2	Q8WZ74	581
MPLKIP	ERCC3	P19447	578
MPLKIP	SGCE	O43556	578
MPLKIP	RPGR	Q92834	577
MPLKIP	A6NFB4	A6NFB4	549
MPLKIP	STS	P08842	548
MPLKIP	CSH1	P01243	548
MPLKIP	GTF2E2	P29084	548

IntAct

20 interactions, top by confidence:

A	B	Type	Score
MPLKIP	AKAP8L	psi-mi:“MI:0915”(physical association)	0.560
MPLKIP	GORASP2	psi-mi:“MI:0915”(physical association)	0.560
MPLKIP	NTAQ1	psi-mi:“MI:0915”(physical association)	0.560
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
KCTD17	CBX4	psi-mi:“MI:0914”(association)	0.350
DBR1	CWF19L1	psi-mi:“MI:0914”(association)	0.350
NDOR1	CASK	psi-mi:“MI:0914”(association)	0.350
MPLKIP	PLK1	psi-mi:“MI:0914”(association)	0.350
DBR1	TBP	psi-mi:“MI:0914”(association)	0.350
MPLKIP	ATE1	psi-mi:“MI:0914”(association)	0.350
NOB1	ANKHD1-EIF4EBP3	psi-mi:“MI:0914”(association)	0.350
MPLKIP	GORASP2	psi-mi:“MI:0915”(physical association)	0.000
NTAQ1	MPLKIP	psi-mi:“MI:0915”(physical association)	0.000
GORASP2	MPLKIP	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (40): MPLKIP (Affinity Capture-MS), MPLKIP (Affinity Capture-MS), MPLKIP (Affinity Capture-MS), MPLKIP (Affinity Capture-MS), MPLKIP (Affinity Capture-MS), MPLKIP (Affinity Capture-MS), MPLKIP (Affinity Capture-MS), MPLKIP (Affinity Capture-MS), MPLKIP (Two-hybrid), MPLKIP (Two-hybrid), DBR1 (Affinity Capture-MS), NEDD8-MDP1 (Affinity Capture-MS), PLK1 (Affinity Capture-MS), MPLKIP (Affinity Capture-MS), COA7 (Affinity Capture-MS)

ESM2 similar proteins: A0A3B3IU46, A0JMU8, A1L1K8, A2RV70, O94432, P07733, P45978, P46553, P90897, Q09801, Q09911, Q14444, Q1LZB6, Q24669, Q28F29, Q28HC9, Q2HJG4, Q5CZI8, Q5JVS0, Q5M9G3, Q5R9Q6, Q5UR41, Q5ZMS6, Q60865, Q66HC1, Q6CVS3, Q6FJC7, Q6NRP6, Q6NRY1, Q6NYG6, Q6P0F4, Q6P1U3, Q75A59, Q8CGZ0, Q8IWX8, Q8TAP9, Q8VDM6, Q91W18, Q9BTL3, Q9BUJ2

Diamond homologs: Q8TAP9, Q9D011

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
CDK1	up-regulates	MPLKIP	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	15
Likely pathogenic	1
Uncertain significance	76
Likely benign	48
Benign	7

Top pathogenic / likely-pathogenic (16)

Variant ID	HGVS	Classification
1332725	NM_138701.4(MPLKIP):c.229del (p.Arg77fs)	Pathogenic
1845	NM_138701.4(MPLKIP):c.137_138del (p.Gly46fs)	Pathogenic
1846	NC_000007.14:g.(40116368_?)_(?_40134601)del	Pathogenic
1847	NM_138701.4(MPLKIP):c.277del (p.Ser93fs)	Pathogenic
2024542	NM_138701.4(MPLKIP):c.122dup (p.Arg42fs)	Pathogenic
2026806	NM_138701.4(MPLKIP):c.221dup (p.Arg77fs)	Pathogenic
218158	NM_138701.4(MPLKIP):c.505dup (p.Thr169fs)	Pathogenic
224867	NM_138701.4(MPLKIP):c.339+1G>A	Pathogenic
2815461	NM_138701.4(MPLKIP):c.296del (p.Gln99fs)	Pathogenic
2853984	NM_138701.4(MPLKIP):c.371C>A (p.Ser124Ter)	Pathogenic
3618196	NM_138701.4(MPLKIP):c.270C>G (p.Tyr90Ter)	Pathogenic
4528345	NM_138701.4(MPLKIP):c.339G>A (p.Gln113=)	Pathogenic
4528346	NM_138701.4(MPLKIP):c.4C>T (p.Gln2Ter)	Pathogenic
4713003	NM_138701.4(MPLKIP):c.398_399insA (p.Ser133_Asn134insTer)	Pathogenic
915423	NM_138701.4(MPLKIP):c.124C>T (p.Arg42Ter)	Pathogenic
3242125	NM_138701.4(MPLKIP):c.397delinsGGA (p.Ser133fs)	Likely pathogenic

SpliceAI

409 predictions. Top by Δscore:

Variant	Effect	Δscore
7:40133074:T:TA	donor_gain	1.0000
7:40132947:A:AC	donor_gain	0.9900
7:40132948:C:CC	donor_gain	0.9900
7:40133003:A:C	donor_gain	0.9900
7:40133259:CCTT:C	acceptor_gain	0.9900
7:40134511:T:TA	donor_gain	0.9900
7:40133002:A:AC	donor_gain	0.9800
7:40133120:ATAT:A	donor_gain	0.9800
7:40132998:A:C	donor_gain	0.9700
7:40133083:G:A	donor_gain	0.9700
7:40133075:C:A	donor_gain	0.9600
7:40133021:T:A	donor_gain	0.9500
7:40134225:TTACC:T	donor_loss	0.9500
7:40134227:A:C	donor_loss	0.9500
7:40134228:C:A	donor_loss	0.9500
7:40134505:CCA:C	donor_gain	0.9500
7:40133070:ATCTT:A	donor_gain	0.9200
7:40134037:CGGCT:C	donor_gain	0.9200
7:40134569:T:C	donor_gain	0.9200
7:40134036:A:AC	donor_gain	0.9100
7:40134037:C:CC	donor_gain	0.9100
7:40133127:C:CT	donor_gain	0.9000
7:40133128:T:TT	donor_gain	0.9000
7:40134037:CGG:C	donor_gain	0.9000
7:40134229:C:A	donor_loss	0.8700
7:40134500:C:CT	donor_gain	0.8600
7:40134501:T:TT	donor_gain	0.8600
7:40133038:T:TA	donor_gain	0.8500
7:40133258:CC:C	acceptor_gain	0.8500
7:40134522:G:T	donor_gain	0.8500

AlphaMissense

1139 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:40133154:A:G	W149R	0.995
7:40133154:A:T	W149R	0.995
7:40133152:C:A	W149C	0.994
7:40133152:C:G	W149C	0.994
7:40133159:T:C	D147G	0.985
7:40133065:A:C	F178L	0.983
7:40133065:A:T	F178L	0.983
7:40133067:A:G	F178L	0.983
7:40133159:T:A	D147V	0.976
7:40133159:T:G	D147A	0.976
7:40133160:C:G	D147H	0.975
7:40133165:A:T	L145H	0.975
7:40133158:A:C	D147E	0.973
7:40133158:A:T	D147E	0.973
7:40133179:G:C	F140L	0.971
7:40133179:G:T	F140L	0.971
7:40133181:A:G	F140L	0.971
7:40133167:C:A	M144I	0.965
7:40133167:C:G	M144I	0.965
7:40133167:C:T	M144I	0.965
7:40133180:A:G	F140S	0.964
7:40133144:A:G	L152P	0.963
7:40133153:C:G	W149S	0.960
7:40133070:A:G	Y177H	0.959
7:40133156:G:T	P148H	0.958
7:40133071:T:A	R176S	0.957
7:40133071:T:G	R176S	0.957
7:40133165:A:G	L145P	0.954
7:40133154:A:C	W149G	0.953
7:40133070:A:C	Y177D	0.952

dbSNP variants (sampled 300 via entrez): RS1000198489 (7:40134673 A>G), RS1000269079 (7:40132480 A>C,T), RS1000278845 (7:40126340 A>G), RS1000417273 (7:40126554 C>A,T), RS1000507998 (7:40133876 G>A,T), RS1000577435 (7:40132193 T>C,G), RS1001008863 (7:40134044 G>A), RS1001132178 (7:40128286 C>G), RS1001507027 (7:40128579 G>C), RS1002135081 (7:40134788 G>A), RS1002472310 (7:40136228 G>A,C), RS1002475169 (7:40129259 A>C,T), RS1002567153 (7:40136558 T>C), RS1002752255 (7:40128957 T>C), RS1002766067 (7:40125806 C>T)

Disease associations

OMIM: gene MIM:609188 | disease phenotypes: MIM:234050, MIM:601675

GenCC curated gene-disease

Disease	Classification	Inheritance
trichothiodystrophy 4, nonphotosensitive	Definitive	Autosomal recessive
trichothiodystrophy	Supportive	Autosomal recessive

Mondo (3): trichothiodystrophy 4, nonphotosensitive (MONDO:0021013), trichothiodystrophy 1, photosensitive (MONDO:0011125), trichothiodystrophy (MONDO:0018053)

Orphanet (3): Trichothiodystrophy (Orphanet:33364), Pollitt syndrome (Orphanet:75790), PIBIDS syndrome (Orphanet:670)

HPO phenotypes

110 total (30 of 110 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000133	Gonadal dysgenesis
HP:0000144	Decreased fertility
HP:0000252	Microcephaly
HP:0000278	Retrognathia
HP:0000280	Coarse facial features
HP:0000286	Epicanthus
HP:0000316	Hypertelorism
HP:0000320	Bird-like facies
HP:0000400	Macrotia
HP:0000411	Protruding ear
HP:0000463	Anteverted nares
HP:0000482	Microcornea
HP:0000483	Astigmatism
HP:0000486	Strabismus
HP:0000509	Conjunctivitis
HP:0000519	Developmental cataract
HP:0000545	Myopia
HP:0000546	Retinal degeneration
HP:0000565	Esotropia
HP:0000568	Microphthalmia
HP:0000601	Hypotelorism
HP:0000608	Macular degeneration
HP:0000613	Photophobia
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000653	Sparse eyelashes
HP:0000656	Ectropion
HP:0000670	Carious teeth

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST004797_2	Brain volume in infants (grey matter)	1.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008368	infant grey matter volume measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects expression, decreases expression, increases abundance, increases expression	3
Air Pollutants	increases expression, affects expression, increases abundance	2
aristolochic acid I	increases expression	1
manganese chloride	increases abundance, increases expression	1
monomethylpropion	increases expression	1
di-n-butylphosphoric acid	affects expression	1
Sunitinib	increases expression	1
Arsenic	increases expression, increases abundance	1
Atrazine	increases expression	1
Caffeine	decreases phosphorylation	1
Estradiol	decreases expression	1
Hydrogen Peroxide	affects expression	1
Ivermectin	decreases expression	1
Manganese	increases abundance, increases expression	1
Ozone	increases abundance, affects expression	1
Smoke	decreases expression	1
Valproic Acid	increases expression	1
Asbestos, Crocidolite	increases expression	1
Sodium Selenite	increases expression	1
Cadmium Chloride	decreases expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1

Cellosaurus cell lines

4 cell lines: 3 finite cell line, 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1XE	Abcam HeLa MPLKIP KO	Cancer cell line	Female
CVCL_N052	GM06331	Finite cell line	Male
CVCL_W047	GM06332	Finite cell line	Female
CVCL_W048	GM06333	Finite cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00001813	Not specified	COMPLETED	Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy
NCT05484570	Not specified	RECRUITING	Natural History Study for DNA Repair Disorders