PAK1IP1
gene geneOn this page
Also known as FLJ20624hPIP1PIP1bA421M1.5MAK11WDR84
Summary
PAK1IP1 (PAK1 interacting protein 1, HGNC:20882) is a protein-coding gene on chromosome 6p24.2, encoding p21-activated protein kinase-interacting protein 1 (Q9NWT1). Negatively regulates the PAK1 kinase. It is a common-essential gene (DepMap: required in 98.4% of cancer cell lines).
Predicted to enable protein kinase inhibitor activity. Involved in regulation of signal transduction by p53 class mediator and ribosomal large subunit biogenesis. Located in nucleolus.
Source: NCBI Gene 55003 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 63 total
- Cancer dependency (DepMap): dependent in 98.4% of screened cell lines (common-essential)
- MANE Select transcript:
NM_017906
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20882 |
| Approved symbol | PAK1IP1 |
| Name | PAK1 interacting protein 1 |
| Location | 6p24.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20624, hPIP1, PIP1, bA421M1.5, MAK11, WDR84 |
| Ensembl gene | ENSG00000111845 |
| Ensembl biotype | protein_coding |
| OMIM | 607811 |
| Entrez | 55003 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 10 protein_coding
ENST00000379568, ENST00000896220, ENST00000930921, ENST00000930922, ENST00000930923, ENST00000930924, ENST00000930925, ENST00000930926, ENST00000930927, ENST00000966254
RefSeq mRNA: 1 — MANE Select: NM_017906
NM_017906
CCDS: CCDS34339
Canonical transcript exons
ENST00000379568 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000615776 | 10702369 | 10702489 |
| ENSE00000684551 | 10708953 | 10709076 |
| ENSE00000684554 | 10707415 | 10707514 |
| ENSE00000684556 | 10704747 | 10704844 |
| ENSE00000684559 | 10704507 | 10704652 |
| ENSE00000684562 | 10703405 | 10703457 |
| ENSE00000684564 | 10702565 | 10702639 |
| ENSE00000848000 | 10697324 | 10697486 |
| ENSE00001481611 | 10709238 | 10709782 |
| ENSE00001481661 | 10694972 | 10695069 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 91.49.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.6153 / max 310.2371, expressed in 1813 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 65776 | 33.1481 | 1813 |
| 65775 | 0.4672 | 244 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| prostate gland | UBERON:0002367 | 91.49 | gold quality |
| calcaneal tendon | UBERON:0003701 | 90.09 | gold quality |
| endometrium | UBERON:0001295 | 89.96 | gold quality |
| cortical plate | UBERON:0005343 | 89.26 | gold quality |
| islet of Langerhans | UBERON:0000006 | 88.52 | gold quality |
| esophagus mucosa | UBERON:0002469 | 87.83 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.77 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 87.44 | gold quality |
| gastrocnemius | UBERON:0001388 | 86.67 | gold quality |
| muscle of leg | UBERON:0001383 | 86.21 | gold quality |
| monocyte | CL:0000576 | 86.18 | gold quality |
| leukocyte | CL:0000738 | 85.84 | gold quality |
| rectum | UBERON:0001052 | 85.67 | gold quality |
| vermiform appendix | UBERON:0001154 | 85.55 | gold quality |
| omental fat pad | UBERON:0010414 | 85.47 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.31 | gold quality |
| esophagus | UBERON:0001043 | 85.24 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 85.15 | gold quality |
| placenta | UBERON:0001987 | 85.12 | gold quality |
| pancreas | UBERON:0001264 | 84.94 | gold quality |
| tibial nerve | UBERON:0001323 | 84.60 | gold quality |
| left adrenal gland | UBERON:0001234 | 84.56 | gold quality |
| left uterine tube | UBERON:0001303 | 84.54 | gold quality |
| adrenal gland | UBERON:0002369 | 84.47 | gold quality |
| adipose tissue | UBERON:0001013 | 84.41 | gold quality |
| lymph node | UBERON:0000029 | 84.34 | gold quality |
| muscle tissue | UBERON:0002385 | 84.30 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 84.27 | gold quality |
| tonsil | UBERON:0002372 | 84.07 | gold quality |
| corpus callosum | UBERON:0002336 | 83.96 | 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
miRNA regulators (miRDB)
54 targeting PAK1IP1, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548H-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548I | 99.94 | 71.25 | 3481 |
| HSA-MIR-548J-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548O-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548W | 99.94 | 71.24 | 3488 |
| HSA-MIR-548Y | 99.94 | 71.28 | 3514 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 98.4% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 1)
- A mutation in mouse Pak1ip1 causes orofacial clefting while human PAK1IP1 maps to 6p24 translocation breaking points associated with orofacial clefting. (PMID:23935987)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pak1ip1 | ENSDARG00000044488 |
| mus_musculus | Pak1ip1 | ENSMUSG00000038683 |
| rattus_norvegicus | Tmem14c | ENSRNOG00000015437 |
| drosophila_melanogaster | CG12608 | FBGN0030630 |
Paralogs (26): PAFAH1B1 (ENSG00000007168), SNRNP40 (ENSG00000060688), WDR62 (ENSG00000075702), WDR7 (ENSG00000091157), TBL2 (ENSG00000106638), WDR75 (ENSG00000115368), DCAF4 (ENSG00000119599), DAW1 (ENSG00000123977), TEP1 (ENSG00000129566), AHI1 (ENSG00000135541), WDR38 (ENSG00000136918), MAPKBP1 (ENSG00000137802), POC1B (ENSG00000139323), NEDD1 (ENSG00000139350), COP1 (ENSG00000143207), WDR17 (ENSG00000150627), WDR43 (ENSG00000163811), POC1A (ENSG00000164087), WDR88 (ENSG00000166359), WDR81 (ENSG00000167716), DCAF4L2 (ENSG00000176566), DCAF4L1 (ENSG00000182308), WDR27 (ENSG00000184465), NWD1 (ENSG00000188039), WDR5 (ENSG00000196363), WDR5B (ENSG00000196981)
Protein
Protein identifiers
p21-activated protein kinase-interacting protein 1 — Q9NWT1 (reviewed: Q9NWT1)
Alternative names: PAK/PLC-interacting protein 1, PAK1-interacting protein 1, WD repeat-containing protein 84
All UniProt accessions (2): Q9NWT1, A0A0S2Z5C3
UniProt curated annotations — full annotation on UniProt →
Function. Negatively regulates the PAK1 kinase. PAK1 is a member of the PAK kinase family, which has been shown to play a positive role in the regulation of signaling pathways involving MAPK8 and RELA. PAK1 exists as an inactive homodimer, which is activated by binding of small GTPases such as CDC42 to an N-terminal regulatory domain. PAK1IP1 also binds to the N-terminus of PAK1, and inhibits the specific activation of PAK1 by CDC42. May be involved in ribosomal large subunit assembly.
Subunit / interactions. Interacts with PAK1.
Subcellular location. Nucleus. Nucleolus.
Tissue specificity. Expressed in brain, colon, heart, kidney, liver, lung, muscle, peripheral blood leukocytes, placenta, small intestine, spleen and thymus.
RefSeq proteins (1): NP_060376* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR019775 | WD40_repeat_CS | Conserved_site |
| IPR020472 | WD40_PAC1 | Repeat |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR051959 | PAK1-Kinase_Regulator | Family |
Pfam: PF00400
UniProt features (18 total): sequence conflict 7, repeat 6, compositionally biased region 2, chain 1, modified residue 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NWT1-F1 | 81.27 | 0.69 |
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 (1): 320
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 165 (showing top):
GOBP_RIBOSOME_BIOGENESIS, MULLIGHAN_NPM1_SIGNATURE_3_UP, chr6p24, LFA1_Q6, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, MODULE_453, PAX8_B, NKX62_Q2, MODULE_256, GOBP_MATURATION_OF_LSU_RRNA, WTGAAAT_UNKNOWN, HNF4_DR1_Q3, PPAR_DR1_Q2, GARY_CD5_TARGETS_DN, HTF_01
GO Biological Process (7): maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000463), cell population proliferation (GO:0008283), negative regulation of signal transduction (GO:0009968), ribosomal large subunit biogenesis (GO:0042273), roof of mouth development (GO:0060021), regulation of signal transduction by p53 class mediator (GO:1901796), ribosome biogenesis (GO:0042254)
GO Molecular Function (2): protein kinase inhibitor activity (GO:0004860), protein binding (GO:0005515)
GO Cellular Component (2): nucleolus (GO:0005730), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| ribonucleoprotein complex biogenesis | 2 |
| maturation of LSU-rRNA | 1 |
| cellular process | 1 |
| signal transduction | 1 |
| regulation of signal transduction | 1 |
| negative regulation of cell communication | 1 |
| negative regulation of signaling | 1 |
| negative regulation of response to stimulus | 1 |
| ribosome biogenesis | 1 |
| anatomical structure development | 1 |
| signal transduction by p53 class mediator | 1 |
| regulation of intracellular signal transduction | 1 |
| protein kinase activity | 1 |
| kinase inhibitor activity | 1 |
| protein kinase regulator activity | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| intracellular membraneless organelle | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1966 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PAK1IP1 | RSL24D1 | Q9UHA3 | 841 |
| PAK1IP1 | NSA2 | O95478 | 744 |
| PAK1IP1 | RPF2 | Q9H7B2 | 740 |
| PAK1IP1 | PDCD11 | Q14690 | 718 |
| PAK1IP1 | NIP7 | Q9Y221 | 716 |
| PAK1IP1 | RRP15 | Q9Y3B9 | 696 |
| PAK1IP1 | GNL2 | Q13823 | 682 |
| PAK1IP1 | GTPBP4 | Q9BZE4 | 647 |
| PAK1IP1 | NOP2 | P46087 | 630 |
| PAK1IP1 | CDC40 | O60508 | 617 |
| PAK1IP1 | HTATSF1 | O43719 | 605 |
| PAK1IP1 | NCK1 | P16333 | 604 |
| PAK1IP1 | WDR12 | Q9GZL7 | 601 |
| PAK1IP1 | SURF6 | O75683 | 583 |
| PAK1IP1 | EBNA1BP2 | Q99848 | 576 |
IntAct
131 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PAK1IP1 | MEOX2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| MEOX2 | PAK1IP1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KPNA1 | TCERG1 | psi-mi:“MI:0914”(association) | 0.640 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| PLEKHF2 | PAK1IP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPL28 | MAGEB2 | psi-mi:“MI:0914”(association) | 0.560 |
| RBM34 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| H1-4 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL37A | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18 | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| PRR11 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RPL30 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.530 |
| PPAN | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF71 | DKC1 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL7A | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| Ruvbl1 | AAR2 | psi-mi:“MI:0914”(association) | 0.350 |
| RPL10 | RPS6 | psi-mi:“MI:0914”(association) | 0.350 |
| Srp72 | psi-mi:“MI:0914”(association) | 0.350 | |
| RRP1B | ZNF785 | psi-mi:“MI:0914”(association) | 0.350 |
| MKI67 | ARHGAP10 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (161): PAK1IP1 (Affinity Capture-MS), PAK1IP1 (Affinity Capture-MS), PAK1IP1 (Affinity Capture-MS), PAK1IP1 (Affinity Capture-MS), PAK1IP1 (Affinity Capture-MS), PAK1IP1 (Affinity Capture-MS), PAK1IP1 (Co-fractionation), PAK1IP1 (Co-fractionation), PAK1IP1 (Affinity Capture-MS), PAK1IP1 (Affinity Capture-MS), PAK1IP1 (Affinity Capture-MS), PAK1IP1 (Affinity Capture-MS), PAK1IP1 (Affinity Capture-MS), PAK1IP1 (Affinity Capture-MS), PAK1IP1 (Affinity Capture-MS)
ESM2 similar proteins: A4D1P6, A4IGH4, A7E3S5, A7UVN1, B0W8M5, B2RYI0, B3MRC6, B3NXQ7, B4GXH4, B4JWS7, B4L6T9, B4MA12, B4NER4, B4PYR0, B5DMC9, O74453, O74863, O95163, P57081, Q17CH9, Q2TAF3, Q3TIU4, Q3UMY5, Q4KLQ5, Q5EA99, Q5FVB6, Q5ZKU8, Q5ZLL7, Q68FJ6, Q6C953, Q6DIP5, Q6TEN6, Q6TNS2, Q750U8, Q7TMQ7, Q7TT37, Q7ZVR1, Q7ZY78, Q8BUI3, Q8BX17
Diamond homologs: Q5EA99, Q5ZKU8, Q68FJ6, Q6TNS2, Q9DCE5, Q9NWT1, A0CH87, A0DB19, A0JPH4, A1CF18, A1CQI9, A1CUD6, A1DDL6, A1DP19, A2RRU4, A4R3M4, A4RJV3, A6QM06, A6QX61, A7EKM8, B0XM00, B2B766, B6HP56, B6QC06, B6QC56, B8N9H4, C0NRC6, C4JPW9, C5PFX0, C6HTE8, D1ZEB4, D1ZEM6, D5GBI7, G4MQX3, P83774, P97260, Q00664, Q01369, Q0CCP0, Q0CJD8
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 135 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 |
|---|---|---|---|
| Peptide chain elongation | 28 | 39.0× | 3e-36 |
| Viral mRNA Translation | 28 | 39.0× | 3e-36 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 28 | 38.6× | 3e-36 |
| Selenocysteine synthesis | 28 | 37.0× | 7e-36 |
| Eukaryotic Translation Termination | 28 | 37.0× | 7e-36 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 28 | 36.2× | 1e-35 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 28 | 36.2× | 1e-35 |
| Formation of a pool of free 40S subunits | 28 | 34.5× | 4e-35 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 29 | 44.0× | 4e-38 |
| translation | 29 | 24.4× | 4e-30 |
| ribosomal large subunit biogenesis | 6 | 21.8× | 3e-05 |
| rRNA processing | 14 | 16.2× | 3e-11 |
| ribosomal small subunit biogenesis | 8 | 14.9× | 8e-06 |
| regulation of alternative mRNA splicing, via spliceosome | 7 | 14.0× | 5e-05 |
| negative regulation of translation | 8 | 12.8× | 2e-05 |
| RNA processing | 7 | 12.6× | 7e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
63 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 39 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1225 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:10697484:GTG:G | donor_gain | 1.0000 |
| 6:10702485:CACAA:C | donor_gain | 1.0000 |
| 6:10702486:ACAA:A | donor_gain | 1.0000 |
| 6:10702486:ACAAG:A | donor_loss | 1.0000 |
| 6:10702487:CAA:C | donor_gain | 1.0000 |
| 6:10702487:CAAG:C | donor_loss | 1.0000 |
| 6:10702488:AA:A | donor_gain | 1.0000 |
| 6:10702489:AG:A | donor_loss | 1.0000 |
| 6:10702490:G:A | donor_loss | 1.0000 |
| 6:10702490:G:GG | donor_gain | 1.0000 |
| 6:10702491:T:A | donor_loss | 1.0000 |
| 6:10702492:GA:G | donor_loss | 1.0000 |
| 6:10704499:A:AG | acceptor_gain | 1.0000 |
| 6:10704505:A:AG | acceptor_gain | 1.0000 |
| 6:10704506:G:GT | acceptor_gain | 1.0000 |
| 6:10704506:GAT:G | acceptor_gain | 1.0000 |
| 6:10704648:TTTCA:T | donor_gain | 1.0000 |
| 6:10704649:TTCA:T | donor_gain | 1.0000 |
| 6:10704650:TCA:T | donor_gain | 1.0000 |
| 6:10704650:TCAG:T | donor_loss | 1.0000 |
| 6:10704651:CA:C | donor_gain | 1.0000 |
| 6:10704651:CAG:C | donor_loss | 1.0000 |
| 6:10704652:AGT:A | donor_loss | 1.0000 |
| 6:10704653:G:GG | donor_gain | 1.0000 |
| 6:10704654:T:A | donor_loss | 1.0000 |
| 6:10704655:AAG:A | donor_loss | 1.0000 |
| 6:10704744:TAG:T | acceptor_loss | 1.0000 |
| 6:10704745:A:AG | acceptor_gain | 1.0000 |
| 6:10704745:A:AT | acceptor_loss | 1.0000 |
| 6:10704745:AG:A | acceptor_gain | 1.0000 |
AlphaMissense
2610 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:10702413:A:C | S98R | 0.999 |
| 6:10702415:T:A | S98R | 0.999 |
| 6:10702415:T:G | S98R | 0.999 |
| 6:10703409:T:A | W150R | 0.999 |
| 6:10703409:T:C | W150R | 0.999 |
| 6:10704524:T:A | W172R | 0.999 |
| 6:10704524:T:C | W172R | 0.999 |
| 6:10702609:C:A | A138D | 0.998 |
| 6:10702612:T:C | L139P | 0.998 |
| 6:10702614:T:C | S140P | 0.998 |
| 6:10702618:T:A | V141D | 0.998 |
| 6:10697414:A:C | S59R | 0.997 |
| 6:10697416:C:A | S59R | 0.997 |
| 6:10697416:C:G | S59R | 0.997 |
| 6:10702443:T:A | W108R | 0.997 |
| 6:10702443:T:C | W108R | 0.997 |
| 6:10702615:C:G | S140W | 0.997 |
| 6:10703436:T:C | F159L | 0.997 |
| 6:10703438:C:A | F159L | 0.997 |
| 6:10703438:C:G | F159L | 0.997 |
| 6:10697411:G:T | G58W | 0.996 |
| 6:10697412:G:A | G58E | 0.996 |
| 6:10697420:G:C | D61H | 0.996 |
| 6:10702584:T:C | S130P | 0.996 |
| 6:10702620:G:C | G142R | 0.996 |
| 6:10702621:G:T | G142V | 0.996 |
| 6:10702626:G:C | D144H | 0.996 |
| 6:10702627:A:T | D144V | 0.996 |
| 6:10704526:G:C | W172C | 0.996 |
| 6:10704526:G:T | W172C | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000038898 (6:10694166 AG>A), RS1001055212 (6:10704648 T>C), RS1001162607 (6:10698230 A>G), RS1001381326 (6:10707812 A>G), RS1001463349 (6:10695389 A>G), RS1001512278 (6:10698005 A>G), RS1001712315 (6:10693280 C>A,T), RS1002027843 (6:10691882 G>A), RS1002080127 (6:10692237 G>C,T), RS1002153952 (6:10692472 T>C), RS1002219891 (6:10708581 C>T), RS1002241269 (6:10702261 GAA>G,GA,GAAA), RS1002668895 (6:10697614 A>G,T), RS1002783555 (6:10709635 T>C), RS1002960331 (6:10709959 G>C)
Disease associations
OMIM: gene MIM:607811 | 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
55 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects cotreatment, affects expression, decreases expression | 3 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression, decreases expression | 2 |
| Cyclosporine | increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression, affects cotreatment | 2 |
| FR900359 | decreases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| deoxynivalenol | increases expression | 1 |
| trichostatin A | affects expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| isobutyl alcohol | affects cotreatment, decreases expression, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| cylindrospermopsin | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| abrine | increases expression | 1 |
| bisphenol S | affects expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Calcitriol | increases expression, affects cotreatment | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
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.