PIH1D1
gene geneOn this page
Also known as FLJ20643Pih1MOT48DNAAF14
Summary
PIH1D1 (PIH1 domain containing 1, HGNC:26075) is a protein-coding gene on chromosome 19q13.33, encoding PIH1 domain-containing protein 1 (Q9NWS0). Involved in the assembly of C/D box small nucleolar ribonucleoprotein (snoRNP) particles.
Enables several functions, including enzyme binding activity; histone binding activity; and phosphoprotein binding activity. Involved in several processes, including positive regulation of macromolecule metabolic process; positive regulation of signal transduction; and protein-containing complex assembly. Located in cytoplasm and nucleolus. Part of R2TP complex; RPAP3/R2TP/prefoldin-like complex; and pre-snoRNP complex.
Source: NCBI Gene 55011 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 54 total
- MANE Select transcript:
NM_017916
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26075 |
| Approved symbol | PIH1D1 |
| Name | PIH1 domain containing 1 |
| Location | 19q13.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20643, Pih1, MOT48, DNAAF14 |
| Ensembl gene | ENSG00000104872 |
| Ensembl biotype | protein_coding |
| OMIM | 611480 |
| Entrez | 55011 |
Gene structure
Transcript identifiers
Ensembl transcripts: 36 — 18 protein_coding, 9 nonsense_mediated_decay, 8 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000262265, ENST00000593629, ENST00000593900, ENST00000594845, ENST00000595074, ENST00000595516, ENST00000595550, ENST00000595633, ENST00000596049, ENST00000596651, ENST00000596895, ENST00000596916, ENST00000597415, ENST00000597577, ENST00000598175, ENST00000598889, ENST00000599366, ENST00000599791, ENST00000600875, ENST00000601053, ENST00000601807, ENST00000601825, ENST00000602076, ENST00000602226, ENST00000715674, ENST00000715675, ENST00000911064, ENST00000911065, ENST00000911066, ENST00000911067, ENST00000911068, ENST00000911069, ENST00000911070, ENST00000911071, ENST00000919081, ENST00000943281
RefSeq mRNA: 1 — MANE Select: NM_017916
NM_017916
CCDS: CCDS12765
Canonical transcript exons
ENST00000262265 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002985313 | 49451485 | 49451814 |
| ENSE00003489521 | 49449475 | 49449654 |
| ENSE00003541474 | 49447827 | 49447908 |
| ENSE00003571964 | 49448001 | 49448062 |
| ENSE00003612883 | 49447338 | 49447467 |
| ENSE00003614372 | 49447024 | 49447099 |
| ENSE00003633124 | 49450782 | 49450848 |
| ENSE00003682427 | 49446551 | 49446694 |
| ENSE00003846962 | 49446298 | 49446423 |
Expression profiles
Bgee: expression breadth ubiquitous, 287 present calls, max score 97.93.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 40.7470 / max 377.3761, expressed in 1820 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 182041 | 29.9296 | 1813 |
| 182040 | 7.3193 | 1694 |
| 182042 | 1.7878 | 1246 |
| 182043 | 1.3904 | 830 |
| 182039 | 0.2893 | 123 |
| 182038 | 0.0307 | 8 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 97.93 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 97.46 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.39 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.27 | gold quality |
| right uterine tube | UBERON:0001302 | 97.08 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 96.96 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 96.95 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 96.79 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 96.72 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 96.69 | gold quality |
| skin of leg | UBERON:0001511 | 96.64 | gold quality |
| skin of abdomen | UBERON:0001416 | 96.58 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.49 | gold quality |
| right lobe of liver | UBERON:0001114 | 96.47 | gold quality |
| spleen | UBERON:0002106 | 96.47 | gold quality |
| endocervix | UBERON:0000458 | 96.42 | gold quality |
| prefrontal cortex | UBERON:0000451 | 96.39 | gold quality |
| cerebellum | UBERON:0002037 | 96.37 | gold quality |
| minor salivary gland | UBERON:0001830 | 96.34 | gold quality |
| body of stomach | UBERON:0001161 | 96.29 | gold quality |
| adenohypophysis | UBERON:0002196 | 96.21 | gold quality |
| ganglionic eminence | UBERON:0004023 | 96.21 | gold quality |
| body of uterus | UBERON:0009853 | 96.15 | gold quality |
| pituitary gland | UBERON:0000007 | 96.08 | gold quality |
| lower esophagus | UBERON:0013473 | 96.08 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 96.08 | gold quality |
| transverse colon | UBERON:0001157 | 96.06 | gold quality |
| left ovary | UBERON:0002119 | 96.06 | gold quality |
| ventricular zone | UBERON:0003053 | 96.05 | gold quality |
| thyroid gland | UBERON:0002046 | 96.02 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6524 | no | 262.71 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MTOR
Literature-anchored findings (GeneRIF, showing 8)
- Is part of an RNA polymerase II-associated complex with possible chaperone activity. (PMID:19450687)
- PIH1D1 may stabilize SNF5 by attenuating its proteasome degradation pathway. (PMID:20078948)
- These results suggest that PIH1D1 may also function as a novel modulator of apoptosis pathway. (PMID:21078300)
- Human PIH1 domain-containing protein 1 (PIH1) interacts directly with histone H4 and recruits the Brg1-SWI/SNF complex via SNF5 to human rRNA genes. (PMID:22368283)
- this study investigated the interaction between RPAP3 and PIH1D1. (PMID:23159623)
- PIH1D1 interacts with mTOR complex 1 and enhances ribosome RNA transcription. (PMID:24036451)
- We propose that protein complexes assembled by the R2TP complex are defined by phosphorylation of a specific motif and recognition by the PIH1D1 subunit (PMID:24656813)
- An RPAP3:PIH1D1 sub-complex is found demonstrating the need for a 34-residue insertion, specific of RPAP3 isoform 1, for the tight binding of PIH1D1. (PMID:30033218)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pih1d1 | ENSDARG00000037955 |
| mus_musculus | Pih1d1 | ENSMUSG00000003423 |
| rattus_norvegicus | Pih1d1 | ENSRNOG00000020634 |
Paralogs (2): PIH1D2 (ENSG00000150773), DNAAF2 (ENSG00000165506)
Protein
Protein identifiers
PIH1 domain-containing protein 1 — Q9NWS0 (reviewed: Q9NWS0)
Alternative names: Nucleolar protein 17 homolog
All UniProt accessions (16): Q9NWS0, A0AAQ5BIG8, A0AAQ5BIK2, M0QXD5, M0QYA2, M0QYF4, M0QZ61, M0QZM3, M0QZZ1, M0R028, M0R0J2, M0R1R3, M0R2H3, M0R2P8, M0R3A4, M0R3A8
UniProt curated annotations — full annotation on UniProt →
Function. Involved in the assembly of C/D box small nucleolar ribonucleoprotein (snoRNP) particles. Recruits the SWI/SNF complex to the core promoter of rRNA genes and enhances pre-rRNA transcription. Mediates interaction of TELO2 with the R2TP complex which is necessary for the stability of MTOR and SMG1. Positively regulates the assembly and activity of the mTORC1 complex.
Subunit / interactions. Component of the R2TP complex composed at least of RUVBL1, RUVBL2, RPAP3 and PIHD1. Component of the PAQosome complex which is responsible for the biogenesis of several protein complexes and which consists of R2TP complex members RUVBL1, RUVBL2, RPAP3 and PIH1D1, URI complex members PFDN2, PFDN6, PDRG1, UXT and URI1 as well as ASDURF, POLR2E and DNAAF10/WDR92. Interacts with phosphorylated TELO2 and mediates interaction of TELO2 with the R2TP complex. Interacts with phosphorylated ECD, EFTUD2/SNRP116, RPB1 and UBR5 and with RPB1 in a phosphorylation-independent manner. Interacts with the core C/D box snoRNP particle components NOP58 and FBL and with RUVBL1/TIP49. Interacts with RPAP3 and DNAAF10. Interacts with histone H4 and with SWI/SNF complex member SMARCB1/SNF5. Interacts with the mTORC1 complex member RPTOR. Interacts with MSL1.
Subcellular location. Nucleus.
Tissue specificity. Expressed at low levels in normal mammary epithelial cells (at protein level). Highest expression in lung, leukocyte and placenta. Expressed at lower levels in brain, prostate, colon, heart, small intestine, liver, ovary, pancreas, skeletal muscle, spleen, testis and thymus.
Domain organisation. The N-terminal region is required for binding to phosphorylated substrates while the C-terminal region binds to the other R2TP complex components.
Similarity. Belongs to the PIH1 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NWS0-1 | 1 | yes |
| Q9NWS0-2 | 2 | |
| Q9NWS0-3 | 3 |
RefSeq proteins (1): NP_060386* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR012981 | PIH1_N | Domain |
| IPR041442 | PIH1D1/2/3_CS-like | Domain |
| IPR050734 | PIH1/Kintoun_subfamily | Family |
Pfam: PF08190, PF18201
UniProt features (40 total): strand 13, mutagenesis site 8, sequence variant 5, site 3, helix 3, sequence conflict 2, modified residue 2, splice variant 2, chain 1, turn 1
Structure
Experimental structures (PDB)
8 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7AVC | X-RAY DIFFRACTION | 1.2 |
| 9THX | X-RAY DIFFRACTION | 1.36 |
| 4PSF | X-RAY DIFFRACTION | 1.58 |
| 9TIA | X-RAY DIFFRACTION | 2.07 |
| 9TJQ | X-RAY DIFFRACTION | 2.19 |
| 4PSI | X-RAY DIFFRACTION | 2.45 |
| 8BDU | X-RAY DIFFRACTION | 2.47 |
| 6GXZ | X-RAY DIFFRACTION | 2.96 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NWS0-F1 | 79.27 | 0.33 |
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 (3): 57 (interacts with telo2); 64 (interacts with telo2); 113 (interacts with telo2)
Post-translational modifications (2): 12, 173
Mutagenesis-validated functional residues (8):
| Position | Phenotype |
|---|---|
| 54 | abolishes binding to histone h4. |
| 55 | no effect on binding to histone h4. |
| 57 | abolishes binding to telo2. |
| 64 | abolishes binding to ecd, eftud2, rpb1, telo2 and ubr5. |
| 113 | reduces binding to telo2. |
| 163 | reduces binding to telo2. |
| 166 | reduces binding to telo2. |
| 168 | abolishes binding to telo2. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 157 (showing top):
GOBP_RIBOSOME_BIOGENESIS, GOBP_EPITHELIUM_DEVELOPMENT, MODULE_151, GOBP_CELLULAR_RESPONSE_TO_CARBOHYDRATE_STIMULUS, GOBP_POSITIVE_REGULATION_OF_TOR_SIGNALING, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_RRNA_TRANSCRIPTION, TERAMOTO_OPN_TARGETS_CLUSTER_6, GOBP_PROTEIN_STABILIZATION, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_REGULATION_OF_PROTEIN_STABILITY, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_INTRACELLULAR_GLUCOSE_HOMEOSTASIS, GOBP_CARBOHYDRATE_HOMEOSTASIS
GO Biological Process (10): box C/D snoRNP assembly (GO:0000492), chromatin remodeling (GO:0006338), rRNA processing (GO:0006364), epithelial cell differentiation (GO:0030855), snoRNA localization (GO:0048254), protein stabilization (GO:0050821), positive regulation of transcription of nucleolar large rRNA by RNA polymerase I (GO:1901838), positive regulation of glucose mediated signaling pathway (GO:1902661), positive regulation of TORC1 signaling (GO:1904263), TORC1 complex assembly (GO:1905669)
GO Molecular Function (6): protein kinase binding (GO:0019901), histone binding (GO:0042393), ATPase binding (GO:0051117), phosphoprotein binding (GO:0051219), histone reader activity (GO:0140566), protein binding (GO:0005515)
GO Cellular Component (7): nucleus (GO:0005634), nucleolus (GO:0005730), cytoplasm (GO:0005737), pre-snoRNP complex (GO:0070761), R2TP complex (GO:0097255), RPAP3/R2TP/prefoldin-like complex (GO:1990062), ribonucleoprotein complex (GO:1990904)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein-containing complex | 3 |
| protein binding | 2 |
| small nucleolar ribonucleoprotein complex assembly | 1 |
| chromatin organization | 1 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| ribosome biogenesis | 1 |
| cell differentiation | 1 |
| epithelium development | 1 |
| RNA localization | 1 |
| regulation of protein stability | 1 |
| nucleolar large rRNA transcription by RNA polymerase I | 1 |
| positive regulation of transcription by RNA polymerase I | 1 |
| regulation of transcription of nucleolar large rRNA by RNA polymerase I | 1 |
| positive regulation of signal transduction | 1 |
| glucose mediated signaling pathway | 1 |
| regulation of glucose mediated signaling pathway | 1 |
| positive regulation of TOR signaling | 1 |
| TORC1 signaling | 1 |
| regulation of TORC1 signaling | 1 |
| protein-containing complex assembly | 1 |
| kinase binding | 1 |
| enzyme binding | 1 |
| nucleosome | 1 |
| histone binding | 1 |
| chromatin-protein adaptor activity | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular membraneless organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| ribonucleoprotein complex | 1 |
Protein interactions and networks
STRING
2156 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PIH1D1 | RPAP3 | Q9H6T3 | 998 |
| PIH1D1 | RUVBL1 | P82276 | 997 |
| PIH1D1 | RUVBL2 | Q9Y230 | 997 |
| PIH1D1 | HSP90AA1 | P07900 | 977 |
| PIH1D1 | HSP90AB1 | P08238 | 963 |
| PIH1D1 | NOP58 | Q9Y2X3 | 864 |
| PIH1D1 | DNAAF10 | Q96MX6 | 861 |
| PIH1D1 | NOP56 | O00567 | 835 |
| PIH1D1 | ZNHIT3 | Q15649 | 798 |
| PIH1D1 | NUFIP1 | Q9UHK0 | 790 |
| PIH1D1 | SNU13 | P55769 | 770 |
| PIH1D1 | PFDN6 | O15212 | 769 |
| PIH1D1 | SPAG1 | Q07617 | 754 |
| PIH1D1 | PFDN2 | Q9UHV9 | 750 |
| PIH1D1 | RNF113A | O15541 | 739 |
IntAct
208 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RPTOR | MTOR | psi-mi:“MI:0914”(association) | 0.980 |
| PARD6A | PRKCI | psi-mi:“MI:0914”(association) | 0.950 |
| NPHP1 | NPHP4 | psi-mi:“MI:2364”(proximity) | 0.930 |
| POLR2E | POLR3A | psi-mi:“MI:0914”(association) | 0.870 |
| PIH1D1 | RUVBL2 | psi-mi:“MI:0914”(association) | 0.860 |
| POLR2J | POLR1C | psi-mi:“MI:0914”(association) | 0.830 |
| RPAP2 | PIH1D1 | psi-mi:“MI:0915”(physical association) | 0.800 |
| ECD | PIH1D1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| PIH1D1 | ECD | psi-mi:“MI:0914”(association) | 0.740 |
| PIH1D1 | ECD | psi-mi:“MI:0915”(physical association) | 0.740 |
| PPP1CC | CCDC85C | psi-mi:“MI:0914”(association) | 0.740 |
| PIH1D1 | ECD | psi-mi:“MI:0407”(direct interaction) | 0.740 |
| POLR2E | MED19 | psi-mi:“MI:0914”(association) | 0.730 |
| POLR2A | POLR2D | psi-mi:“MI:0914”(association) | 0.730 |
| POLR3E | POLR3A | psi-mi:“MI:0914”(association) | 0.730 |
| POLR2J | POLR2D | psi-mi:“MI:0914”(association) | 0.730 |
| RPRD1B | POLR2D | psi-mi:“MI:0914”(association) | 0.730 |
| PIH1D1 | RPAP3 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
BioGRID (941): PIH1D1 (Two-hybrid), TSC22D4 (Two-hybrid), PIH1D1 (Affinity Capture-RNA), PIH1D1 (Affinity Capture-MS), PIH1D1 (Affinity Capture-MS), POLR2G (Affinity Capture-MS), PDRG1 (Affinity Capture-MS), RUVBL1 (Affinity Capture-MS), POLR1A (Affinity Capture-MS), POLR3A (Affinity Capture-MS), RPAP2 (Affinity Capture-MS), POLR3E (Affinity Capture-MS), UXT (Affinity Capture-MS), POLR2A (Affinity Capture-MS), POLR2M (Affinity Capture-MS)
ESM2 similar proteins: D3ZND0, F1MX48, O95382, P47823, Q0VCI6, Q1RM55, Q2KIJ6, Q2YD98, Q3SYU1, Q4V7F5, Q58CQ5, Q5PPF5, Q5PRB3, Q64350, Q66H85, Q6IUP3, Q6P5E6, Q6P6S4, Q6V7V2, Q7TMX5, Q80TT2, Q8BRN9, Q8C6B2, Q8CHW4, Q8N0W3, Q8VDM1, Q924T7, Q96EP0, Q96NY9, Q99L85, Q99PL6, Q9BST9, Q9BXL6, Q9BZV1, Q9CQJ2, Q9D479, Q9EPK6, Q9H173, Q9H8Y5, Q9NWS0
Diamond homologs: P38768, Q0VCI6, Q4V7F5, Q7Q9F6, Q9NWS0, P0CU29, Q1RM55, Q7ZWY2, Q9CQJ2, Q499A3, B5BUZ8, B4J4Y2
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PIH1D1 | “up-regulates quantity by stabilization” | mTORC1 | binding |
| MRE11 | “up-regulates activity” | PIH1D1 | binding |
| PIH1D1 | “form complex” | “R2TP core co-chaperone” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 128 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 |
|---|---|---|---|
| RNA Polymerase III Chain Elongation | 8 | 60.4× | 4e-11 |
| FGFR2 mutant receptor activation | 6 | 54.4× | 1e-08 |
| Signaling by FGFR2 IIIa TM | 7 | 50.1× | 2e-09 |
| Abortive elongation of HIV-1 transcript in the absence of Tat | 8 | 47.3× | 2e-10 |
| RNA Polymerase III Transcription Termination | 8 | 47.3× | 2e-10 |
| RNA Polymerase III Transcription Initiation From Type 2 Promoter | 9 | 45.3× | 4e-11 |
| RNA Polymerase III Transcription Initiation From Type 1 Promoter | 9 | 43.7× | 4e-11 |
| RNA Polymerase III Transcription Initiation From Type 3 Promoter | 9 | 43.7× | 4e-11 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein stabilization | 17 | 9.9× | 9e-10 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
54 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 41 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1665 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:49446548:CACCT:C | donor_loss | 1.0000 |
| 19:49446559:T:TA | donor_gain | 1.0000 |
| 19:49446804:C:T | acceptor_gain | 1.0000 |
| 19:49446805:A:T | acceptor_gain | 1.0000 |
| 19:49447017:AACTC:A | donor_loss | 1.0000 |
| 19:49447018:ACTC:A | donor_loss | 1.0000 |
| 19:49447019:CTCA:C | donor_loss | 1.0000 |
| 19:49447021:CA:C | donor_loss | 1.0000 |
| 19:49447022:A:AC | donor_gain | 1.0000 |
| 19:49447022:ACCAG:A | donor_loss | 1.0000 |
| 19:49447023:C:CT | donor_gain | 1.0000 |
| 19:49447023:C:T | donor_loss | 1.0000 |
| 19:49447023:CCAG:C | donor_gain | 1.0000 |
| 19:49447095:CAGGC:C | acceptor_gain | 1.0000 |
| 19:49447097:GGC:G | acceptor_gain | 1.0000 |
| 19:49447099:CCTGA:C | acceptor_loss | 1.0000 |
| 19:49447100:C:CC | acceptor_gain | 1.0000 |
| 19:49447100:CTGA:C | acceptor_loss | 1.0000 |
| 19:49447336:AC:A | donor_gain | 1.0000 |
| 19:49447337:CC:C | donor_gain | 1.0000 |
| 19:49447347:G:C | donor_gain | 1.0000 |
| 19:49447351:T:A | donor_gain | 1.0000 |
| 19:49447352:C:CA | donor_gain | 1.0000 |
| 19:49447821:CCTCA:C | donor_loss | 1.0000 |
| 19:49447822:CTCAC:C | donor_loss | 1.0000 |
| 19:49447823:TCA:T | donor_loss | 1.0000 |
| 19:49447824:CA:C | donor_loss | 1.0000 |
| 19:49447825:A:AC | donor_gain | 1.0000 |
| 19:49447825:A:AT | donor_loss | 1.0000 |
| 19:49447825:AC:A | donor_gain | 1.0000 |
AlphaMissense
1887 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:49449608:G:C | N68K | 0.998 |
| 19:49449608:G:T | N68K | 0.998 |
| 19:49449614:G:C | F66L | 0.998 |
| 19:49449614:G:T | F66L | 0.998 |
| 19:49449616:A:G | F66L | 0.998 |
| 19:49447871:G:T | A146D | 0.997 |
| 19:49448029:A:T | V124D | 0.997 |
| 19:49448042:A:C | Y120D | 0.997 |
| 19:49449602:G:C | C70W | 0.997 |
| 19:49449615:A:G | F66S | 0.997 |
| 19:49449641:C:A | K57N | 0.997 |
| 19:49449641:C:G | K57N | 0.997 |
| 19:49447859:A:G | L150P | 0.996 |
| 19:49447859:A:T | L150H | 0.996 |
| 19:49448044:G:T | A119D | 0.996 |
| 19:49449506:A:C | S102R | 0.996 |
| 19:49449506:A:T | S102R | 0.996 |
| 19:49449508:T:G | S102R | 0.996 |
| 19:49449647:G:C | C55W | 0.996 |
| 19:49449603:C:T | C70Y | 0.995 |
| 19:49449604:A:G | C70R | 0.995 |
| 19:49446419:A:G | L279S | 0.994 |
| 19:49447435:C:G | G172R | 0.994 |
| 19:49447849:T:A | K153N | 0.994 |
| 19:49447849:T:G | K153N | 0.994 |
| 19:49447850:T:A | K153I | 0.994 |
| 19:49447872:C:G | A146P | 0.994 |
| 19:49449516:A:G | I99T | 0.994 |
| 19:49449610:T:C | N68D | 0.994 |
| 19:49449612:A:T | I67N | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000550973 (19:49451803 CG>C), RS1000594040 (19:49446686 G>A,T), RS1001046406 (19:49447006 C>G,T), RS1001156061 (19:49450356 G>A,T), RS1001831143 (19:49447613 C>A), RS1001981964 (19:49452895 T>C), RS1002988743 (19:49451676 G>C), RS1004063567 (19:49452067 T>G), RS1004332550 (19:49453508 G>A,C,T), RS1004622272 (19:49453658 A>C,G), RS1004664773 (19:49450774 T>C), RS1005222919 (19:49452595 A>G), RS1005531196 (19:49449325 G>A,C,T), RS1005749031 (19:49452345 G>A,C), RS1005783637 (19:49446035 C>A)
Disease associations
OMIM: gene MIM:611480 | 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
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression | 2 |
| Valproic Acid | increases methylation, affects expression | 2 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sodium arsenite | affects methylation | 1 |
| cobaltous chloride | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| ICG 001 | increases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Carbamazepine | affects expression | 1 |
| Carcinogens | decreases expression | 1 |
| Catechin | affects cotreatment, decreases expression | 1 |
| Coumestrol | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Selenium | increases expression, affects cotreatment | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Vitamin E | affects cotreatment, increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | 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_XR60 | HAP1 PIH1D1 (-) | Cancer cell line | 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.