VPS72
gene geneOn this page
Also known as YL-1YL1Swc2
Summary
VPS72 (vacuolar protein sorting 72 homolog, HGNC:11644) is a protein-coding gene on chromosome 1q21.3, encoding Vacuolar protein sorting-associated protein 72 homolog (Q15906). Deposition-and-exchange histone chaperone specific for H2AZ1, specifically chaperones H2AZ1 and deposits it into nucleosomes. It is a selective cancer dependency (DepMap: 62.1% of cell lines).
The protein encoded by this gene is a shared subunit of two multi-component complexes, the histone acetyltransferase complex TRRAP/TIP60 as well as the chromatin remodeling SRCAP-containing complex. The TRRAP/TIP60 complex acetylates nucleosomal histones important for transcriptional regulation, double strand DNA break repair and apoptosis. The SRCAP-containing complex catalyzes the exchange of histone H2A with the histone variant Htz1 (H2AFZ) into nucleosomes. This protein may be responsible for binding H2AFZ, which has a role in chromosome segregation. This protein may also have a role in regulating long-term hematopoietic stem cell activity. Alternative splicing results in multiple transcript variants that encode different protein isoforms.
Source: NCBI Gene 6944 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 17 total
- Cancer dependency (DepMap): dependent in 62.1% of screened cell lines
- MANE Select transcript:
NM_005997
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11644 |
| Approved symbol | VPS72 |
| Name | vacuolar protein sorting 72 homolog |
| Location | 1q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | YL-1, YL1, Swc2 |
| Ensembl gene | ENSG00000163159 |
| Ensembl biotype | protein_coding |
| OMIM | 600607 |
| Entrez | 6944 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 9 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000354473, ENST00000368892, ENST00000463470, ENST00000471423, ENST00000496809, ENST00000859398, ENST00000859399, ENST00000859400, ENST00000859401, ENST00000859402, ENST00000915996, ENST00000915997
RefSeq mRNA: 3 — MANE Select: NM_005997
NM_001271087, NM_001271088, NM_005997
CCDS: CCDS59201, CCDS989
Canonical transcript exons
ENST00000368892 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000000170 | 151190005 | 151190197 |
| ENSE00001929723 | 151176304 | 151177031 |
| ENSE00003592537 | 151185506 | 151185620 |
| ENSE00003610727 | 151178001 | 151178145 |
| ENSE00003616902 | 151185798 | 151185950 |
| ENSE00003627570 | 151184317 | 151184493 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 97.92.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.9290 / max 328.5775, expressed in 1822 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 14416 | 42.9290 | 1822 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 97.92 | gold quality |
| oocyte | CL:0000023 | 97.87 | gold quality |
| ganglionic eminence | UBERON:0004023 | 97.37 | gold quality |
| cortical plate | UBERON:0005343 | 96.86 | gold quality |
| ventricular zone | UBERON:0003053 | 95.56 | gold quality |
| calcaneal tendon | UBERON:0003701 | 95.36 | gold quality |
| gastrocnemius | UBERON:0001388 | 94.70 | gold quality |
| muscle of leg | UBERON:0001383 | 94.65 | gold quality |
| islet of Langerhans | UBERON:0000006 | 94.21 | gold quality |
| endometrium epithelium | UBERON:0004811 | 93.99 | gold quality |
| embryo | UBERON:0000922 | 93.75 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 93.32 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 93.27 | gold quality |
| stromal cell of endometrium | CL:0002255 | 93.23 | gold quality |
| prefrontal cortex | UBERON:0000451 | 93.06 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 92.82 | gold quality |
| muscle organ | UBERON:0001630 | 92.80 | gold quality |
| lower esophagus | UBERON:0013473 | 92.79 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 92.79 | gold quality |
| popliteal artery | UBERON:0002250 | 92.57 | gold quality |
| tibial artery | UBERON:0007610 | 92.56 | gold quality |
| monocyte | CL:0000576 | 92.51 | gold quality |
| granulocyte | CL:0000094 | 92.48 | gold quality |
| mucosa of stomach | UBERON:0001199 | 92.44 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 92.33 | gold quality |
| mononuclear cell | CL:0000842 | 92.22 | gold quality |
| leukocyte | CL:0000738 | 92.17 | gold quality |
| cerebellar cortex | UBERON:0002129 | 91.77 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 91.76 | gold quality |
| rectum | UBERON:0001052 | 91.75 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MYC, ZBTB17
miRNA regulators (miRDB)
28 targeting VPS72, 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-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-4760-5P | 99.80 | 69.88 | 1619 |
| HSA-MIR-8061 | 99.63 | 69.44 | 1411 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-3942-3P | 99.57 | 69.03 | 2854 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-766-5P | 99.47 | 67.91 | 2225 |
| HSA-MIR-32-3P | 99.36 | 68.20 | 2517 |
| HSA-MIR-6510-5P | 99.14 | 66.59 | 1081 |
| HSA-MIR-4434 | 99.10 | 67.01 | 1984 |
| HSA-MIR-5703 | 99.10 | 67.09 | 2053 |
| HSA-MIR-4463 | 98.56 | 66.05 | 1071 |
| HSA-MIR-6878-5P | 98.49 | 67.91 | 2142 |
| HSA-MIR-4511 | 98.32 | 67.97 | 1500 |
| HSA-MIR-4436B-3P | 98.25 | 65.26 | 1494 |
| HSA-MIR-4423-3P | 97.98 | 69.66 | 912 |
| HSA-MIR-649 | 97.96 | 67.21 | 704 |
| HSA-MIR-376A-5P | 97.70 | 65.61 | 863 |
| HSA-MIR-6783-5P | 97.67 | 67.21 | 1528 |
| HSA-MIR-3127-5P | 97.52 | 65.24 | 786 |
| HSA-MIR-6824-5P | 97.41 | 68.43 | 583 |
| HSA-MIR-1225-3P | 97.29 | 64.60 | 876 |
| HSA-MIR-3667-5P | 97.16 | 64.87 | 591 |
| HSA-MIR-383-5P | 96.86 | 67.55 | 820 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 62.1% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 6)
- Results identify YL1 as a subunit of the TRRAP/TIP60 HAT complex, and also as a component of a novel mammalian multiprotein complex that includes the SNF2-related helicase SRCAP. (PMID:15647280)
- The 2.7-A-resolution crystal structure of the human YL1-H2A.Z-H2B complex shows that YL1 binding, similarly to ANP32E binding, triggers an extension of the H2A.Z alphaC helix. (PMID:26974126)
- VPS72/YL1-Mediated H2A.Z Deposition Is Required for Nuclear Reassembly after Mitosis. (PMID:32708675)
- Vacuolar protein sorting-associated protein 72 homolog (VPS72) binding to lysine acetyltransferase 5 (KAT5) promotes the proliferation, invasion and migration of hepatocellular carcinoma through regulating phosphatidylinositol 3-kinase (PI3K)/protein kinase B (AKT) signaling pathway. (PMID:35383533)
- Targeting VPS72 inhibits ACTL6A/MYC axis activity in HCC progression. (PMID:36631007)
- Prognostic marker VPS72 could promote the malignant progression of prostate cancer. (PMID:38858662)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | vps72a | ENSDARG00000063718 |
| danio_rerio | vps72b | ENSDARG00000088567 |
| mus_musculus | Vps72 | ENSMUSG00000008958 |
| rattus_norvegicus | Vps72 | ENSRNOG00000021081 |
| drosophila_melanogaster | YL-1 | FBGN0032321 |
| caenorhabditis_elegans | C17E4.6 | WBGENE00007645 |
Protein
Protein identifiers
Vacuolar protein sorting-associated protein 72 homolog — Q15906 (reviewed: Q15906)
Alternative names: Protein YL-1, Transcription factor-like 1
All UniProt accessions (1): Q15906
UniProt curated annotations — full annotation on UniProt →
Function. Deposition-and-exchange histone chaperone specific for H2AZ1, specifically chaperones H2AZ1 and deposits it into nucleosomes. As component of the SRCAP complex, mediates the ATP-dependent exchange of histone H2AZ1/H2B dimers for nucleosomal H2A/H2B, leading to transcriptional regulation of selected genes by chromatin remodeling.
Subunit / interactions. Component of the NuA4 histone acetyltransferase complex which contains the catalytic subunit KAT5/TIP60 and the subunits EP400, TRRAP/PAF400, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, ING3, actin, ACTL6A/BAF53A, MORF4L1/MRG15, MORF4L2/MRGX, MRGBP, YEATS4/GAS41 and VPS72/YL1. Component of a NuA4-related complex which contains EP400, TRRAP/PAF400, SRCAP, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, actin, ACTL6A/BAF53A, VPS72 and YEATS4/GAS41. Also part of a multiprotein complex which contains SRCAP and which binds to H2AZ1/H2AZ. Interacts (via N-terminal domain) with heterodimer H2BC11 and H2AZ1. The interaction with H2AZ1 is enhanced by VPS72 phosphorylation which is promoted by ZNHIT1.
Subcellular location. Nucleus.
Post-translational modifications. Phosphorylation is enhanced by ZNHIT1 and promotes the interaction of VPS72 with histone H2AZ1.
Similarity. Belongs to the VPS72/YL1 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q15906-1 | 1 | yes |
| Q15906-2 | 2 |
RefSeq proteins (3): NP_001258016, NP_001258017, NP_005988* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013272 | Vps72/YL1_C | Domain |
| IPR046757 | YL1_N | Domain |
Pfam: PF05764, PF08265
UniProt features (31 total): helix 7, strand 6, compositionally biased region 3, mutagenesis site 2, sequence conflict 2, turn 2, region of interest 2, modified residue 2, chain 1, DNA-binding region 1, splice variant 1, sequence variant 1, cross-link 1
Structure
Experimental structures (PDB)
17 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9INC | X-RAY DIFFRACTION | 2.01 |
| 8QR1 | ELECTRON MICROSCOPY | 2.4 |
| 5FUG | X-RAY DIFFRACTION | 2.7 |
| 9C57 | ELECTRON MICROSCOPY | 2.75 |
| 9CAE | ELECTRON MICROSCOPY | 3.07 |
| 8X15 | ELECTRON MICROSCOPY | 3.2 |
| 8X19 | ELECTRON MICROSCOPY | 3.2 |
| 8X1C | ELECTRON MICROSCOPY | 3.2 |
| 8XVT | ELECTRON MICROSCOPY | 3.2 |
| 9CA7 | ELECTRON MICROSCOPY | 3.35 |
| 9CAC | ELECTRON MICROSCOPY | 3.43 |
| 9CA9 | ELECTRON MICROSCOPY | 3.56 |
| 9CA8 | ELECTRON MICROSCOPY | 3.92 |
| 9CAB | ELECTRON MICROSCOPY | 3.94 |
| 9CAA | ELECTRON MICROSCOPY | 4.04 |
| 9C62 | ELECTRON MICROSCOPY | 5.28 |
| 8XVG | ELECTRON MICROSCOPY | 9.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q15906-F1 | 73.98 | 0.30 |
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 (3): 127, 129, 115
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 29–37 | highly decreases interaction with h2az1 and h2bc11. abolishes interaction with h2az1 and h2bc11 and exchange of h2a for |
| 43–46 | almost abolishes interaction with h2az1 and h2bc11. abolishes interaction with h2az1 and h2bc11 and exchange of h2a for |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-3214847 | HATs acetylate histones |
MSigDB gene sets: 203 (showing top):
GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, GOBP_REGULATION_OF_DNA_RECOMBINATION, GOBP_SOMATIC_STEM_CELL_POPULATION_MAINTENANCE, YAGI_AML_WITH_INV_16_TRANSLOCATION, MORF_RAB5A, ENK_UV_RESPONSE_KERATINOCYTE_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, HSIAO_HOUSEKEEPING_GENES, GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR_VIA_HOMOLOGOUS_RECOMBINATION, GOBP_REGULATION_OF_DNA_REPAIR, PATIL_LIVER_CANCER, GCM_PRKCG, GCM_RING1, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1
GO Biological Process (11): negative regulation of transcription by RNA polymerase II (GO:0000122), chromatin remodeling (GO:0006338), regulation of DNA-templated transcription (GO:0006355), somatic stem cell population maintenance (GO:0035019), regulation of apoptotic process (GO:0042981), transcription initiation-coupled chromatin remodeling (GO:0045815), positive regulation of DNA-templated transcription (GO:0045893), regulation of cell cycle (GO:0051726), positive regulation of double-strand break repair via homologous recombination (GO:1905168), regulation of double-strand break repair (GO:2000779), chromatin organization (GO:0006325)
GO Molecular Function (4): DNA binding (GO:0003677), histone binding (GO:0042393), histone chaperone activity (GO:0140713), protein binding (GO:0005515)
GO Cellular Component (6): nucleosome (GO:0000786), nucleus (GO:0005634), nucleoplasm (GO:0005654), nuclear speck (GO:0016607), protein-containing complex (GO:0032991), NuA4 histone acetyltransferase complex (GO:0035267)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Chromatin modifying enzymes | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA-templated transcription | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| chromatin organization | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| stem cell population maintenance | 1 |
| apoptotic process | 1 |
| regulation of programmed cell death | 1 |
| transcription initiation at RNA polymerase II promoter | 1 |
| positive regulation of gene expression, epigenetic | 1 |
| regulation of DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| cell cycle | 1 |
| regulation of cellular process | 1 |
| double-strand break repair via homologous recombination | 1 |
| regulation of double-strand break repair via homologous recombination | 1 |
| positive regulation of DNA recombination | 1 |
| positive regulation of double-strand break repair | 1 |
| regulation of DNA repair | 1 |
| double-strand break repair | 1 |
| cellular component organization | 1 |
| nucleic acid binding | 1 |
| protein binding | 1 |
| histone binding | 1 |
| protein carrier activity | 1 |
| binding | 1 |
| chromatin | 1 |
| protein-DNA complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| nuclear ribonucleoprotein granule | 1 |
| cellular_component | 1 |
| H4/H2A histone acetyltransferase complex | 1 |
Protein interactions and networks
STRING
1688 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| VPS72 | SRCAP | Q6ZRS2 | 960 |
| VPS72 | DMAP1 | Q9NPF5 | 950 |
| VPS72 | CFDP1 | Q9UEE9 | 949 |
| VPS72 | RUVBL1 | P82276 | 945 |
| VPS72 | YEATS4 | O95619 | 942 |
| VPS72 | TRRAP | Q9Y4A5 | 929 |
| VPS72 | RUVBL2 | Q9Y230 | 913 |
| VPS72 | H2AZ1 | P0C0S5 | 864 |
| VPS72 | KAT5 | Q92993 | 857 |
| VPS72 | ZNHIT1 | O43257 | 852 |
| VPS72 | BRD8 | Q9H0E9 | 775 |
| VPS72 | SMARCA2 | P51531 | 718 |
| VPS72 | MORF4L1 | Q9UBU8 | 681 |
| VPS72 | H2BC21 | Q16778 | 661 |
| VPS72 | ANP32E | Q9BTT0 | 637 |
| VPS72 | MRGBP | Q9NV56 | 637 |
IntAct
177 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RUVBL1 | VPS72 | psi-mi:“MI:0915”(physical association) | 0.880 |
| RUVBL1 | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.860 |
| MRGBP | YEATS4 | psi-mi:“MI:0914”(association) | 0.840 |
| RUVBL2 | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.810 |
| YEATS4 | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.790 |
| INO80E | TFPT | psi-mi:“MI:0914”(association) | 0.790 |
| ZNHIT1 | YEATS4 | psi-mi:“MI:0914”(association) | 0.790 |
| H2AZ1 | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.770 |
| MRGBP | ACTL6A | psi-mi:“MI:0914”(association) | 0.760 |
| TRRAP | ATXN7 | psi-mi:“MI:0914”(association) | 0.740 |
| MBTD1 | YEATS4 | psi-mi:“MI:0914”(association) | 0.730 |
| MORF4L1 | SIN3B | psi-mi:“MI:0914”(association) | 0.730 |
| ZNHIT1 | ACTL6A | psi-mi:“MI:0914”(association) | 0.720 |
| ACTL6A | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.720 |
| NFIC | NFIB | psi-mi:“MI:2364”(proximity) | 0.690 |
| VPS72 | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.690 |
| MDFI | VPS72 | psi-mi:“MI:0915”(physical association) | 0.670 |
BioGRID (224): VPS72 (Two-hybrid), HMBOX1 (Two-hybrid), VPS72 (Affinity Capture-MS), VPS72 (Affinity Capture-MS), VPS72 (Affinity Capture-MS), VPS72 (Affinity Capture-MS), VPS72 (Affinity Capture-MS), VPS72 (Affinity Capture-MS), VPS72 (Affinity Capture-MS), VPS72 (Affinity Capture-MS), VPS72 (Affinity Capture-MS), VPS72 (Affinity Capture-MS), CALCOCO2 (Two-hybrid), VPS72 (Two-hybrid), CCDC85B (Two-hybrid)
ESM2 similar proteins: A0A286Y9D1, C0HKD8, C0HKD9, F4HVZ5, F4IDY7, F4IP06, O00566, O14012, O15541, O48713, O94416, O94667, O94880, P34648, P38326, P55080, P55081, Q05021, Q10580, Q14320, Q15906, Q16U25, Q17QX9, Q28BK4, Q2VPH1, Q4KLV7, Q568K9, Q5E9F6, Q5EA98, Q5R5V9, Q5XIB2, Q62481, Q67ER4, Q6FML0, Q6GNJ8, Q6NXY9, Q754T8, Q7KN79, Q7PYQ5, Q810V0
Diamond homologs: F4IP06, Q15906, Q5E9F6, Q5R5V9, Q62481, Q6GNJ8, Q9VKM6
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| VPS72 | “form complex” | “NuA4 complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 150 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 |
|---|---|---|---|
| Global Genome Nucleotide Excision Repair (GG-NER) | 5 | 23.6× | 1e-04 |
| DNA Damage Recognition in GG-NER | 7 | 20.6× | 5e-06 |
| HATs acetylate histones | 22 | 18.0× | 3e-19 |
| Nucleotide Excision Repair | 5 | 14.7× | 8e-04 |
| Replacement of protamines by nucleosomes in the male pronucleus | 5 | 14.0× | 9e-04 |
| Chromatin organization | 16 | 13.5× | 1e-11 |
| Formation of the beta-catenin:TCF transactivating complex | 10 | 12.4× | 1e-06 |
| Chromatin modifying enzymes | 16 | 11.9× | 5e-11 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of double-strand break repair | 17 | 71.6× | 3e-26 |
| positive regulation of double-strand break repair via homologous recombination | 19 | 52.7× | 3e-26 |
| positive regulation of telomere maintenance in response to DNA damage | 6 | 48.9× | 1e-07 |
| regulation of DNA strand elongation | 6 | 45.8× | 1e-07 |
| regulation of chromosome organization | 6 | 40.7× | 3e-07 |
| regulation of DNA replication | 9 | 23.9× | 1e-08 |
| positive regulation of DNA repair | 7 | 18.2× | 6e-06 |
| regulation of DNA repair | 9 | 18.0× | 1e-07 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
17 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 2 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
2319 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:151176780:C:G | R320P | 1.000 |
| 1:151176811:A:C | Y310D | 1.000 |
| 1:151176831:T:C | D303G | 1.000 |
| 1:151176863:A:C | C292W | 1.000 |
| 1:151176864:C:T | C292Y | 1.000 |
| 1:151176865:A:G | C292R | 1.000 |
| 1:151178125:C:G | A195P | 1.000 |
| 1:151178133:C:G | R192P | 1.000 |
| 1:151184319:A:G | L187P | 1.000 |
| 1:151184323:A:G | S186P | 1.000 |
| 1:151184353:C:G | A176P | 1.000 |
| 1:151184361:A:G | L173P | 1.000 |
| 1:151184364:A:G | L172P | 1.000 |
| 1:151185885:A:C | F61L | 1.000 |
| 1:151185885:A:T | F61L | 1.000 |
| 1:151185886:A:C | F61C | 1.000 |
| 1:151185887:A:G | F61L | 1.000 |
| 1:151185889:T:A | D60V | 1.000 |
| 1:151185890:C:G | D60H | 1.000 |
| 1:151190035:G:C | F29L | 1.000 |
| 1:151190035:G:T | F29L | 1.000 |
| 1:151190037:A:G | F29L | 1.000 |
| 1:151176772:A:C | Y323D | 0.999 |
| 1:151176775:C:G | A322P | 0.999 |
| 1:151176781:G:T | R320S | 0.999 |
| 1:151176783:A:C | I319S | 0.999 |
| 1:151176783:A:T | I319N | 0.999 |
| 1:151176792:A:G | F316S | 0.999 |
| 1:151176811:A:T | Y310N | 0.999 |
| 1:151176816:A:T | I308K | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000210359 (1:151182667 C>T), RS1000224725 (1:151190160 A>G,T), RS1000338835 (1:151189837 C>T), RS1000496608 (1:151178325 T>A), RS1000550546 (1:151185103 C>A,G), RS1000730423 (1:151182302 T>C), RS1001021362 (1:151184866 T>G), RS1001034876 (1:151177837 T>C), RS1001092334 (1:151191342 T>C), RS1001544573 (1:151183466 C>T), RS1001622917 (1:151181639 C>G), RS1001659081 (1:151183142 T>A), RS1001819853 (1:151176821 T>C), RS1001980034 (1:151188136 A>G), RS1002218154 (1:151176962 A>G)
Disease associations
OMIM: gene MIM:600607 | 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
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| trichostatin A | affects expression | 1 |
| sodium arsenite | affects cotreatment, decreases expression | 1 |
| isobutyl alcohol | increases abundance, increases expression, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-hydroxy-equilenin | decreases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| fenpyroximate | decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | increases expression | 1 |
| picoxystrobin | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Ethanol | affects cotreatment, increases abundance, increases expression | 1 |
| Antimycin A | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Demecolcine | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Gasoline | affects cotreatment, increases abundance, increases expression | 1 |
| Nickel | decreases expression | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, increases abundance, increases expression | 1 |
| Rotenone | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Tetrachlorodibenzodioxin | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | decreases expression, affects cotreatment | 1 |
Cellosaurus cell lines
3 cell lines: 3 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A7U5 | SEES3-1V human VPS72, clone1 | Embryonic stem cell | Male |
| CVCL_A7U6 | SEES3-1V human VPS72, clone2 | Embryonic stem cell | Male |
| CVCL_A7U7 | SEES3-1V human VPS72, clone3 | Embryonic stem cell | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.