HYPK
gene geneOn this page
Also known as HSPC136FLJ20431
Summary
HYPK (huntingtin interacting protein K, HGNC:18418) is a protein-coding gene on chromosome 15q15.3, encoding Huntingtin-interacting protein K (Q9NX55). Component of several N-terminal acetyltransferase complexes. It is a common-essential gene (DepMap: required in 92.7% of cancer cell lines).
Enables protein folding chaperone. Involved in negative regulation of apoptotic process and protein stabilization. Located in cytoplasm; microtubule cytoskeleton; and nucleoplasm. Part of protein-containing complex.
Source: NCBI Gene 25764 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 20 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 92.7% of screened cell lines (common-essential)
- MANE Select transcript:
NM_016400
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18418 |
| Approved symbol | HYPK |
| Name | huntingtin interacting protein K |
| Location | 15q15.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HSPC136, FLJ20431 |
| Ensembl gene | ENSG00000242028 |
| Ensembl biotype | protein_coding |
| OMIM | 612784 |
| Entrez | 25764 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 3 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000406925, ENST00000442995, ENST00000458412, ENST00000497142, ENST00000498605
RefSeq mRNA: 2 — MANE Select: NM_016400
NM_001199885, NM_016400
CCDS: CCDS10104
Canonical transcript exons
ENST00000442995 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001562216 | 43800599 | 43800784 |
| ENSE00003518538 | 43801518 | 43801569 |
| ENSE00003685895 | 43801132 | 43801187 |
| ENSE00004282328 | 43801711 | 43804427 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 91.64.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 79.3787 / max 1097.7497, expressed in 1826 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 146356 | 79.3787 | 1826 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| hindlimb stylopod muscle | UBERON:0004252 | 91.64 | gold quality |
| gastrocnemius | UBERON:0001388 | 91.41 | gold quality |
| muscle of leg | UBERON:0001383 | 91.11 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 90.87 | gold quality |
| heart left ventricle | UBERON:0002084 | 89.91 | gold quality |
| left adrenal gland | UBERON:0001234 | 89.55 | gold quality |
| monocyte | CL:0000576 | 89.44 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 89.39 | gold quality |
| right adrenal gland | UBERON:0001233 | 88.95 | gold quality |
| leukocyte | CL:0000738 | 88.87 | gold quality |
| apex of heart | UBERON:0002098 | 88.73 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 88.48 | gold quality |
| adrenal gland | UBERON:0002369 | 88.37 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 88.35 | gold quality |
| right atrium auricular region | UBERON:0006631 | 88.35 | gold quality |
| ganglionic eminence | UBERON:0004023 | 88.34 | gold quality |
| substantia nigra | UBERON:0002038 | 88.32 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 88.19 | gold quality |
| heart | UBERON:0000948 | 88.16 | gold quality |
| muscle tissue | UBERON:0002385 | 88.07 | gold quality |
| prefrontal cortex | UBERON:0000451 | 87.85 | gold quality |
| right lobe of liver | UBERON:0001114 | 87.80 | gold quality |
| adenohypophysis | UBERON:0002196 | 87.59 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 87.51 | gold quality |
| hypothalamus | UBERON:0001898 | 87.31 | gold quality |
| liver | UBERON:0002107 | 87.24 | gold quality |
| pituitary gland | UBERON:0000007 | 87.05 | gold quality |
| cerebellum | UBERON:0002037 | 86.99 | gold quality |
| cerebellar cortex | UBERON:0002129 | 86.95 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 86.92 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 10.01 |
| E-GEOD-106540 | no | 307.72 |
| E-MTAB-6379 | no | 281.74 |
| E-GEOD-93593 | no | 7.03 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): HSF1
miRNA regulators (miRDB)
32 targeting HYPK, 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-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-548A-3P | 99.76 | 70.58 | 3524 |
| HSA-MIR-498-5P | 99.76 | 69.64 | 1807 |
| HSA-MIR-199A-3P | 99.75 | 70.48 | 929 |
| HSA-MIR-199B-3P | 99.75 | 70.48 | 929 |
| HSA-MIR-3129-5P | 99.75 | 70.46 | 914 |
| HSA-MIR-3682-3P | 99.58 | 67.63 | 865 |
| HSA-MIR-5589-3P | 99.29 | 68.30 | 1443 |
| HSA-MIR-6506-5P | 99.04 | 65.66 | 1386 |
| HSA-MIR-5590-5P | 98.81 | 68.78 | 969 |
| HSA-MIR-34B-3P | 98.70 | 67.40 | 1171 |
| HSA-MIR-619-5P | 98.57 | 64.97 | 1988 |
| HSA-MIR-1245B-3P | 98.01 | 68.91 | 1387 |
| HSA-MIR-432-5P | 98.00 | 68.13 | 989 |
| HSA-MIR-8086 | 97.21 | 64.13 | 331 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 92.7% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 17)
- The present study, has confirmed, by confocal microscopy and immunoprecipitation, that HYPK interacts with the N-terminal of Htt. (PMID:17947297)
- HYPK has roles in regulating cell growth, cell cycle, unfolded protein response and cell death (PMID:23272104)
- maintenance of HYPK expression by HSF1 is necessary for the survival of cells under thermal stress conditions (PMID:24361604)
- Chaperone-like protein HYPK is induced by cellular stress and is under transcriptional regulation by HSF1. (PMID:24465598)
- By virtue of its flexibility and nascent peptide binding activity, HYPK may play an important role in assisting protein (re)folding. (PMID:25116620)
- specific interaction of HYPK with HTT-N17 is crucial for the chaperone activity of HYPK (PMID:25446099)
- HYPK can act as negative regulator of heat shock response by repressing transcriptional activity of HSF1. (PMID:27017930)
- Results show that HYPK, possibly with its interacting partners, induces autophagy. results further confirm that HYPK could also be involved in clearing mutant HTT aggregates by augmenting autophagy pathway. (PMID:27067261)
- In combination with acetylation assays, the HypK N-terminal region is identified as a negative regulator of the NatA acetylation activity (PMID:28585574)
- study provides evidence of the existence of disordered nanostructure in HYPK protein that mechanistically plays a decisive role in preventing both self and non-self protein aggregation. (PMID:29381348)
- Results find that HYPK harbors intrinsic hNatA-specific inhibitory activity through a bipartite structure: a ubiquitin-associated domain that binds a hNaa15 metazoan-specific region and an N-terminal loop-helix region that distorts the hNaa10 active site. (PMID:29754825)
- this studu identified the metastable states in the seeds of the Ubiquitin associated (UBA) domain of Huntingtin Interacting Protein K (HYPK). (PMID:30251673)
- Results find the novel mode of internal ribosome entry site (IRES)-dependent translation initiation of HYPK mRNA, along with the determination of mechanism of the nuclear localization process of HYPK. (PMID:31397627)
- Huntingtin interacting protein K (HYPK) forms a tetrameric complex with the human N-terminal acetyltransferase E (NatE). HYPK exhibits negative cooperative binding to NAA15 auxiliary subunit by inducing NAA15 shifts in opposing directions. HYPK inhibits NAA10 and NAA50 catalytic activities through structural alteration of the NAA10 and the NatE substrate-binding sites, respectively. (PMID:32042062)
- HYPK coordinates degradation of polyneddylated proteins by autophagy. (PMID:34836490)
- Phosphorylation of Arl4A/D promotes their binding by the HYPK chaperone for their stable recruitment to the plasma membrane. (PMID:35857868)
- HYPK: A marginally disordered protein sensitive to charge decoration. (PMID:38657047)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | hypk | ENSDARG00000059725 |
| mus_musculus | Hypk | ENSMUSG00000027245 |
| rattus_norvegicus | Hypk | ENSRNOG00000072345 |
| drosophila_melanogaster | CG9922 | FBGN0038196 |
| caenorhabditis_elegans | F13G3.10 | WBGENE00008768 |
Protein
Protein identifiers
Huntingtin-interacting protein K — Q9NX55 (reviewed: Q9NX55)
Alternative names: Huntingtin yeast partner K
All UniProt accessions (2): Q9NX55, J3QT56
UniProt curated annotations — full annotation on UniProt →
Function. Component of several N-terminal acetyltransferase complexes. Inhibits the N-terminal acetylation activity of the N-terminal acetyltransferase NAA10-NAA15 complex (also called the NatA complex). Has chaperone-like activity preventing polyglutamine (polyQ) aggregation of HTT in neuronal cells probably while associated with the NatA complex. May play a role in the NatA complex-mediated N-terminal acetylation of PCNP.
Subunit / interactions. Component of the N-terminal acetyltransferase A (NatA)/HYPK complex at least composed of NAA10, NAA15 and HYPK, which has N-terminal acetyltransferase activity. Within the complex interacts with NAA10. Within the complex interacts with NAA15. Predominantly interacts with NAA15 in the NAA10-NAA15 complex (also called the NatA complex); the interaction with the NatA complex reduces the acetylation activity of the NatA complex. Interacts with HTT (via N-terminus). The NatA complex is required for HYPK stability and for reducing polyQ aggregation of HTT. Component of the N-terminal acetyltransferase E (NatE)/HYPK complex at least composed of NAA10, NAA15, NAA50 and HYPK. Within the complex interacts with NAA10 and NAA15. Does not interact with NAA50. Interaction with NAA15 reduces the capacity of NAA15 to interact with NAA50. Its capacity to interact with the NatA complex is reduced by NAA50. Does not interact with the N-terminal acetyltransferase B (NatB) complex component NAA25 or the N-terminal acetyltransferase C (NatC) complex component NAA35.
Subcellular location. Nucleus. Cytoplasm.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NX55-2 | 2 | yes |
| Q9NX55-3 | 3 |
RefSeq proteins (2): NP_001186814, NP_057484* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR038922 | HYPK_UBA | Domain |
| IPR044034 | NAC-like_UBA | Domain |
| IPR052617 | Huntingtin-int_K | Family |
Pfam: PF19026
UniProt features (22 total): helix 5, mutagenesis site 4, compositionally biased region 3, region of interest 2, turn 2, splice variant 2, chain 1, sequence variant 1, coiled-coil region 1, modified residue 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6C95 | X-RAY DIFFRACTION | 3.15 |
| 9F1D | ELECTRON MICROSCOPY | 3.26 |
| 6PW9 | ELECTRON MICROSCOPY | 4.03 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NX55-F1 | 70.87 | 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 (1): 30
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 28 | reduces ability to inhibit naa10-naa15 complex-mediated n-terminal acetylation, which results in increased n-terminal ac |
| 35 | reduces ability to inhibit naa10-naa15 complex-mediated n-terminal acetylation, which results in increased n-terminal ac |
| 38 | reduces ability to inhibit naa10-naa15 complex-mediated n-terminal acetylation, which results in increased n-terminal ac |
| 52–121 | abolishes interaction with naa10 and naa15. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 89 (showing top):
GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, NKX61_01, GOBP_PROTEIN_MATURATION, GOBP_PROTEIN_STABILIZATION, GOBP_PROTEIN_FOLDING, GOBP_REGULATION_OF_PROTEIN_STABILITY, HAND1E47_01, SCGGAAGY_ELK1_02, KIM_MYCN_AMPLIFICATION_TARGETS_UP, TCANNTGAY_SREBP1_01, LU_EZH2_TARGETS_DN, KRIEG_KDM3A_TARGETS_NOT_HYPOXIA, CSR_LATE_UP.V1_UP, GOMF_PROTEIN_FOLDING_CHAPERONE, LTE2_UP.V1_UP
GO Biological Process (3): negative regulation of apoptotic process (GO:0043066), protein stabilization (GO:0050821), protein folding (GO:0006457)
GO Molecular Function (2): protein folding chaperone (GO:0044183), protein binding (GO:0005515)
GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), microtubule cytoskeleton (GO:0015630), protein-containing complex (GO:0032991)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| apoptotic process | 1 |
| regulation of apoptotic process | 1 |
| negative regulation of programmed cell death | 1 |
| regulation of protein stability | 1 |
| cellular process | 1 |
| protein maturation | 1 |
| molecular_function | 1 |
| protein folding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| cytoskeleton | 1 |
| cellular_component | 1 |
Protein interactions and networks
STRING
1161 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HYPK | NAA15 | Q9BXJ9 | 983 |
| HYPK | NAA10 | P41227 | 977 |
| HYPK | NAA50 | Q9GZZ1 | 976 |
| HYPK | HTT | P42858 | 965 |
| HYPK | NAA16 | Q6N069 | 724 |
| HYPK | NAA60 | Q9H7X0 | 682 |
| HYPK | SERF2 | P84101 | 620 |
| HYPK | NAA20 | P61599 | 619 |
| HYPK | NAA25 | Q14CX7 | 612 |
| HYPK | NAA40 | Q86UY6 | 597 |
| HYPK | NAA30 | Q147X3 | 520 |
| HYPK | PCNP | Q8WW12 | 519 |
| HYPK | NAA11 | Q9BSU3 | 503 |
| HYPK | NAA80 | Q93015 | 489 |
| HYPK | FAM98A | Q8NCA5 | 454 |
IntAct
41 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NAA15 | NAA10 | psi-mi:“MI:0914”(association) | 0.840 |
| NAA15 | HYPK | psi-mi:“MI:0915”(physical association) | 0.840 |
| HYPK | TXLNA | psi-mi:“MI:0915”(physical association) | 0.720 |
| TXLNA | HYPK | psi-mi:“MI:0915”(physical association) | 0.720 |
| HTT | HYPK | psi-mi:“MI:0915”(physical association) | 0.670 |
| HYPK | HTT | psi-mi:“MI:0915”(physical association) | 0.670 |
| HYPK | NAA10 | psi-mi:“MI:0914”(association) | 0.640 |
| MAGEA1 | HYPK | psi-mi:“MI:0915”(physical association) | 0.560 |
| HYPK | MAGEA1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| C2orf68 | HYPK | psi-mi:“MI:0915”(physical association) | 0.560 |
| NAA10 | OFD1 | psi-mi:“MI:0914”(association) | 0.480 |
| Naa10 | NAA10 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Naa15 | NAA10 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Naa10 | MYO9A | psi-mi:“MI:0914”(association) | 0.350 |
| Naa11 | psi-mi:“MI:0914”(association) | 0.350 | |
| Naa50 | WDR46 | psi-mi:“MI:0914”(association) | 0.350 |
| Naa15 | TBX3 | psi-mi:“MI:0914”(association) | 0.350 |
| KSR1 | FBLL1 | psi-mi:“MI:0914”(association) | 0.350 |
| TSGA10IP | NAA10 | psi-mi:“MI:0914”(association) | 0.350 |
| HYPK | APOA1 | psi-mi:“MI:0914”(association) | 0.350 |
| ALPK2 | C2CD4B | psi-mi:“MI:0914”(association) | 0.350 |
| NAA11 | DVL2 | psi-mi:“MI:0914”(association) | 0.350 |
| HYPK | RPSA2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (169): HYPK (Two-hybrid), TXLNA (Two-hybrid), HYPK (Affinity Capture-MS), HYPK (Co-fractionation), HYPK (Co-fractionation), HYPK (Co-fractionation), NAA15 (Co-fractionation), NAA16 (Co-fractionation), SPG20 (Co-fractionation), HYPK (Proximity Label-MS), HYPK (Affinity Capture-MS), HYPK (Affinity Capture-MS), HYPK (Affinity Capture-MS), HYPK (Affinity Capture-MS), HTT (Affinity Capture-MS)
ESM2 similar proteins: A1CMF8, A1DLM0, A2R4V1, A4RC89, A6R641, A6SB28, A7EIZ1, P0C2C7, Q0UKB5, Q13765, Q1DHR3, Q2H4Z2, Q2KIA6, Q2PFU1, Q2TBV6, Q2U955, Q4P341, Q4WD81, Q5AYK0, Q5B187, Q5E9A1, Q5R8X8, Q5R9I9, Q5ZIN1, Q60817, Q61UX1, Q68F90, Q6ICZ8, Q6IP73, Q6PFL6, Q6QN10, Q7SI17, Q7SYJ9, Q86S66, Q8AWF2, Q8JIU7, Q8LCV1, Q8LH03, Q8RWU7, Q94518
Diamond homologs: Q2PFU1, Q9CR41, Q9NX55
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
20 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 16 |
| Likely benign | 2 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2269 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:43796656:G:C | donor_gain | 1.0000 |
| 15:43798030:A:T | acceptor_gain | 1.0000 |
| 15:43800781:GACG:G | donor_gain | 1.0000 |
| 15:43800783:CGG:C | donor_loss | 1.0000 |
| 15:43800785:G:GG | donor_gain | 1.0000 |
| 15:43800785:GT:G | donor_loss | 1.0000 |
| 15:43800786:T:A | donor_loss | 1.0000 |
| 15:43801184:AGCGG:A | donor_loss | 1.0000 |
| 15:43801185:GCG:G | donor_gain | 1.0000 |
| 15:43801188:G:C | donor_loss | 1.0000 |
| 15:43801188:G:GG | donor_gain | 1.0000 |
| 15:43801189:T:A | donor_loss | 1.0000 |
| 15:43801512:TTGCA:T | acceptor_loss | 1.0000 |
| 15:43801513:TGCA:T | acceptor_loss | 1.0000 |
| 15:43801514:GCA:G | acceptor_loss | 1.0000 |
| 15:43801516:A:AG | acceptor_gain | 1.0000 |
| 15:43801516:A:AT | acceptor_loss | 1.0000 |
| 15:43801516:AG:A | acceptor_gain | 1.0000 |
| 15:43801517:G:GA | acceptor_loss | 1.0000 |
| 15:43801517:G:GG | acceptor_gain | 1.0000 |
| 15:43801517:GG:G | acceptor_gain | 1.0000 |
| 15:43801517:GGGA:G | acceptor_gain | 1.0000 |
| 15:43801568:TA:T | donor_gain | 1.0000 |
| 15:43801570:G:GG | donor_gain | 1.0000 |
| 15:43796223:CATTG:C | acceptor_gain | 0.9900 |
| 15:43796225:T:TC | acceptor_gain | 0.9900 |
| 15:43796228:C:CC | acceptor_gain | 0.9900 |
| 15:43796655:AG:A | donor_gain | 0.9900 |
| 15:43796673:T:C | donor_gain | 0.9900 |
| 15:43796941:C:CC | acceptor_gain | 0.9900 |
AlphaMissense
841 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:43800726:T:C | L43S | 1.000 |
| 15:43800735:T:A | V46D | 1.000 |
| 15:43800738:C:T | T47I | 1.000 |
| 15:43801133:C:A | A63D | 1.000 |
| 15:43801529:T:C | L85P | 1.000 |
| 15:43801531:G:C | A86P | 1.000 |
| 15:43801538:T:A | V88D | 1.000 |
| 15:43801544:T:A | I90N | 1.000 |
| 15:43801754:T:C | L113S | 1.000 |
| 15:43801768:G:C | G118R | 1.000 |
| 15:43801769:G:T | G118V | 1.000 |
| 15:43801787:T:C | L124P | 1.000 |
| 15:43800704:C:G | H36D | 0.999 |
| 15:43800713:G:C | G39R | 0.999 |
| 15:43800719:G:C | A41P | 0.999 |
| 15:43800722:G:C | D42H | 0.999 |
| 15:43800723:A:G | D42G | 0.999 |
| 15:43800723:A:T | D42V | 0.999 |
| 15:43800724:C:A | D42E | 0.999 |
| 15:43800724:C:G | D42E | 0.999 |
| 15:43800726:T:G | L43W | 0.999 |
| 15:43800732:G:C | R45P | 0.999 |
| 15:43800735:T:C | V46A | 0.999 |
| 15:43800740:G:C | D48H | 0.999 |
| 15:43800741:A:T | D48V | 0.999 |
| 15:43800746:G:C | A50P | 0.999 |
| 15:43800762:T:C | I55T | 0.999 |
| 15:43801132:G:C | A63P | 0.999 |
| 15:43801138:T:C | S65P | 0.999 |
| 15:43801145:T:A | I67N | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000068099 (15:43802476 C>T), RS1000288190 (15:43802217 G>A,C), RS1000840249 (15:43804790 A>G), RS1001291988 (15:43803325 T>A), RS1001935656 (15:43803205 A>G), RS1003413902 (15:43804652 C>T), RS1003632042 (15:43804324 A>C), RS1004404847 (15:43803861 G>C), RS1004823575 (15:43804873 A>G), RS1004900883 (15:43803635 CAA>C,CA,CAAA), RS1005404826 (15:43802751 A>G), RS1005493589 (15:43802555 G>A,T), RS1005966945 (15:43798848 C>A), RS1007217976 (15:43804283 C>T), RS1007293808 (15:43798638 A>G)
Disease associations
OMIM: gene MIM:612784 | 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: yes
ChEMBL targets (1): CHEMBL6066284 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.72 | Kd | 18.84 | nM | CHEMBL5653589 |
| 7.72 | ED50 | 18.84 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148564: Binding affinity to human HYPK incubated for 45 mins by Kinobead based pull down assay | kd | 0.0188 | uM |
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases expression, decreases expression, increases abundance | 3 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| bisphenol F | affects cotreatment, affects expression | 1 |
| bisphenol A | increases expression | 1 |
| sodium arsenate | decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| microcystin RR | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | increases expression | 1 |
| ICG 001 | increases 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 | increases expression | 1 |
| Irinotecan | affects expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Coumestrol | increases expression | 1 |
| Dexamethasone | affects cotreatment, affects expression | 1 |
| Gasoline | affects cotreatment, increases abundance, increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Indomethacin | affects cotreatment, affects expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | increases expression, affects cotreatment, increases abundance | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, increases abundance, increases expression | 1 |
| Rotenone | decreases expression | 1 |
| Tretinoin | affects cotreatment, increases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | affects expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651606 | Binding | Binding affinity to human HYPK incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
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.