NAPA
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Summary
NAPA (NSF attachment protein alpha, HGNC:7641) is a protein-coding gene on chromosome 19q13.33, encoding Alpha-soluble NSF attachment protein (P54920). Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus.
This gene encodes a member of the soluble NSF attachment protein (SNAP) family. SNAP proteins play a critical role in the docking and fusion of vesicles to target membranes as part of the 20S NSF-SNAP-SNARE complex. The encoded protein plays a role in the completion of membrane fusion by mediating the interaction of N-ethylmaleimide-sensitive factor (NSF) with the vesicle-associated and membrane-associated SNAP receptor (SNARE) complex, and stimulating the ATPase activity of NSF. Alternatively spliced transcript variants have been observed for this gene.
Source: NCBI Gene 8775 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 57 total
- Druggable target: yes
- MANE Select transcript:
NM_003827
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7641 |
| Approved symbol | NAPA |
| Name | NSF attachment protein alpha |
| Location | 19q13.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000105402 |
| Ensembl biotype | protein_coding |
| OMIM | 603215 |
| Entrez | 8775 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 8 retained_intron, 6 protein_coding, 4 protein_coding_CDS_not_defined, 4 nonsense_mediated_decay
ENST00000263354, ENST00000593761, ENST00000593785, ENST00000593905, ENST00000594001, ENST00000594155, ENST00000594217, ENST00000594288, ENST00000594740, ENST00000595227, ENST00000595826, ENST00000596892, ENST00000597118, ENST00000597160, ENST00000597271, ENST00000597274, ENST00000597778, ENST00000598615, ENST00000601208, ENST00000601927, ENST00000602082, ENST00000602174
RefSeq mRNA: 1 — MANE Select: NM_003827
NM_003827
CCDS: CCDS12702
Canonical transcript exons
ENST00000263354 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001274857 | 47514843 | 47515063 |
| ENSE00003023433 | 47487637 | 47488389 |
| ENSE00003494573 | 47503423 | 47503502 |
| ENSE00003622084 | 47489711 | 47489761 |
| ENSE00003633141 | 47493119 | 47493174 |
| ENSE00003641533 | 47500633 | 47500749 |
| ENSE00003645772 | 47495550 | 47495596 |
| ENSE00003658999 | 47492015 | 47492119 |
| ENSE00003688395 | 47493416 | 47493493 |
| ENSE00003790248 | 47492961 | 47493045 |
| ENSE00003791605 | 47490788 | 47490856 |
Expression profiles
Bgee: expression breadth ubiquitous, 144 present calls, max score 99.31.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 105.9360 / max 749.0327, expressed in 1828 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 181783 | 103.8062 | 1828 |
| 181775 | 0.8494 | 327 |
| 181779 | 0.4636 | 28 |
| 181782 | 0.3815 | 184 |
| 181778 | 0.2134 | 12 |
| 181781 | 0.1819 | 79 |
| 181777 | 0.0280 | 13 |
| 181776 | 0.0120 | 6 |
Top tissues by expression
145 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 99.31 | gold quality |
| cerebellum | UBERON:0002037 | 99.28 | gold quality |
| cerebellar cortex | UBERON:0002129 | 99.28 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 99.27 | gold quality |
| primary visual cortex | UBERON:0002436 | 99.17 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 99.11 | gold quality |
| prefrontal cortex | UBERON:0000451 | 99.01 | gold quality |
| right frontal lobe | UBERON:0002810 | 99.00 | gold quality |
| frontal cortex | UBERON:0001870 | 98.99 | gold quality |
| frontal lobe | UBERON:0016525 | 98.99 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 98.87 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 98.86 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.84 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.84 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.81 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.79 | gold quality |
| cerebral cortex | UBERON:0000956 | 98.75 | gold quality |
| pituitary gland | UBERON:0000007 | 98.69 | gold quality |
| skin of leg | UBERON:0001511 | 98.62 | gold quality |
| adenohypophysis | UBERON:0002196 | 98.62 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 98.62 | gold quality |
| zone of skin | UBERON:0000014 | 98.56 | gold quality |
| prostate gland | UBERON:0002367 | 98.54 | gold quality |
| brain | UBERON:0000955 | 98.51 | gold quality |
| apex of heart | UBERON:0002098 | 98.51 | gold quality |
| skin of abdomen | UBERON:0001416 | 98.50 | gold quality |
| Ammon’s horn | UBERON:0001954 | 98.50 | gold quality |
| telencephalon | UBERON:0001893 | 98.46 | gold quality |
| metanephros cortex | UBERON:0010533 | 98.32 | gold quality |
| left uterine tube | UBERON:0001303 | 98.29 | 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)
58 targeting NAPA, 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-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
| HSA-MIR-5010-5P | 99.94 | 64.11 | 705 |
| HSA-MIR-6753-3P | 99.93 | 66.57 | 637 |
| HSA-MIR-7107-3P | 99.93 | 66.73 | 627 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-3151-5P | 99.86 | 63.83 | 1069 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-6817-3P | 99.79 | 68.35 | 2126 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548X-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-4422 | 99.72 | 72.07 | 2908 |
| HSA-MIR-6752-5P | 99.59 | 67.32 | 1243 |
| HSA-MIR-6751-5P | 99.56 | 64.99 | 1145 |
| HSA-MIR-3153 | 99.55 | 67.59 | 2337 |
| HSA-MIR-6081 | 99.48 | 66.07 | 1446 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-330-3P | 99.41 | 69.95 | 2521 |
| HSA-MIR-6731-5P | 99.28 | 67.42 | 2375 |
Literature-anchored findings (GeneRIF, showing 10)
- alpha-SNAP plays a key role in the acrosome reaction. (PMID:15542541)
- G alpha12 interaction with alphaSNAP induces VE-cadherin localization at endothelial junctions and regulates barrier function (PMID:15980433)
- Results suggest that the combinational SNARE proteins VAMP8 and Vti1b mediate the fusion of antimicrobial and canonical autophagosomes with lysosomes, an essential event for autophagic degradation. (PMID:20089838)
- The most N-terminal part of BKV agnoprotein is involved in the interaction with alpha-SNAP (PMID:21931730)
- a novel role for alphaSNAP in promoting epithelial cell survival by unique mechanisms involving regulation of Bcl-2 expression and Golgi biogenesis (PMID:22194596)
- novel roles for alphaSNAP in promoting the formation of epithelial adherens junctions and tight junctions by controlling golgi-dependent expression and trafficking of junctional proteins. (PMID:22485163)
- Study revealed a novel role for alphaSNAP as a negative regulator of autophagy that acts by enhancing mTOR signaling and regulating the integrity of the Golgi complex. (PMID:23187805)
- data implicates beta1 integrin, FAK, and paxillin in mediating the observed pro-adhesive effects of alphaSNAP. These results reveal novel roles for alphaSNAP in regulating ECM adhesion and motility of epithelial cells. (PMID:24311785)
- alphaSNAP is mainly expressed in the neuron brain tissue of patients with temporal lobe epilepsy. Its blood levels were significantly lower in these patients. alphaSNAP levels may increase epilepsy susceptibility. (PMID:26156199)
- High affinity associations with alpha-SNAP enable calcium entry via Orai1 channels. (PMID:34653219)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | napab | ENSDARG00000020405 |
| danio_rerio | napaa | ENSDARG00000067605 |
| mus_musculus | Napa | ENSMUSG00000006024 |
| rattus_norvegicus | Napa | ENSRNOG00000001494 |
| drosophila_melanogaster | alphaSnap | FBGN0250791 |
| caenorhabditis_elegans | WBGENE00017016 |
Paralogs (2): NAPB (ENSG00000125814), NAPG (ENSG00000134265)
Protein
Protein identifiers
Alpha-soluble NSF attachment protein — P54920 (reviewed: P54920)
Alternative names: N-ethylmaleimide-sensitive factor attachment protein alpha
All UniProt accessions (10): P54920, M0QZM9, M0QZN5, M0R027, M0R031, M0R058, M0R0I4, M0R0Y2, M0R213, M0R2M1
UniProt curated annotations — full annotation on UniProt →
Function. Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus. Together with GNA12 promotes CDH5 localization to plasma membrane.
Subunit / interactions. Interacts with PRKCABP, and disrupts the interaction between GRIA2 and PRKCABP, leading to the internalization of GRIA2. Found in a complex with VAMP8. Component of a SNARE-like complex that contains at least ZW10, USE1L, RINT1, STX18 and NAPA/SNAP-alpha. Interacts with VTI1A. Interacts with STX12. Interacts with GNA12 (via N-terminus); the interaction promotes CDH5 localization to plasma membrane.
Subcellular location. Cell membrane.
Similarity. Belongs to the SNAP family.
RefSeq proteins (1): NP_003818* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000744 | NSF_attach | Family |
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
Pfam: PF14938
UniProt features (8 total): modified residue 4, mutagenesis site 2, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P54920-F1 | 89.06 | 0.67 |
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 (4): 1, 26, 29, 195
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 122 | does not affect interaction with gna12. |
| 140 | increases interaction with gna12. |
Function
Pathways and Gene Ontology
Reactome pathways
16 pathways
| ID | Pathway |
|---|---|
| R-HSA-204005 | COPII-mediated vesicle transport |
| R-HSA-432722 | Golgi Associated Vesicle Biogenesis |
| R-HSA-6807878 | COPI-mediated anterograde transport |
| R-HSA-6811434 | COPI-dependent Golgi-to-ER retrograde traffic |
| R-HSA-6811438 | Intra-Golgi traffic |
| R-HSA-6811440 | Retrograde transport at the Trans-Golgi-Network |
| R-HSA-199977 | ER to Golgi Anterograde Transport |
| R-HSA-199991 | Membrane Trafficking |
| R-HSA-199992 | trans-Golgi Network Vesicle Budding |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-446203 | Asparagine N-linked glycosylation |
| R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-597592 | Post-translational protein modification |
| R-HSA-6811442 | Intra-Golgi and retrograde Golgi-to-ER traffic |
| R-HSA-8856688 | Golgi-to-ER retrograde transport |
| R-HSA-948021 | Transport to the Golgi and subsequent modification |
MSigDB gene sets: 223 (showing top):
GOBP_APICAL_PROTEIN_LOCALIZATION, MODY_HIPPOCAMPUS_POSTNATAL, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOCC_SECRETORY_GRANULE, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_MEMBRANE_FUSION, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_NEUROTRANSMITTER_TRANSPORT, GOBP_NEUROGENESIS, CREBP1_Q2, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS
GO Biological Process (13): intracellular protein transport (GO:0006886), intra-Golgi vesicle-mediated transport (GO:0006891), brain development (GO:0007420), regulation of synaptic vesicle priming (GO:0010807), synaptic vesicle priming (GO:0016082), neuron differentiation (GO:0030182), synaptic transmission, glutamatergic (GO:0035249), SNARE complex disassembly (GO:0035494), apical protein localization (GO:0045176), membrane fusion (GO:0061025), protein transport (GO:0015031), vesicle-mediated transport (GO:0016192), protein-containing complex disassembly (GO:0032984)
GO Molecular Function (5): SNARE binding (GO:0000149), soluble NSF attachment protein activity (GO:0005483), syntaxin binding (GO:0019905), protein-containing complex binding (GO:0044877), protein binding (GO:0005515)
GO Cellular Component (10): cytosol (GO:0005829), membrane (GO:0016020), neuromuscular junction (GO:0031594), presynaptic active zone membrane (GO:0048787), synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044), extracellular exosome (GO:0070062), postsynapse (GO:0098794), glutamatergic synapse (GO:0098978), plasma membrane (GO:0005886), presynapse (GO:0098793)
Reactome top-level categories
Rollup of top-10 pathways:
| Category | Pathways |
|---|---|
| Intra-Golgi and retrograde Golgi-to-ER traffic | 3 |
| Membrane Trafficking | 3 |
| ER to Golgi Anterograde Transport | 2 |
| trans-Golgi Network Vesicle Budding | 1 |
| Golgi-to-ER retrograde transport | 1 |
| Transport to the Golgi and subsequent modification | 1 |
| Vesicle-mediated transport | 1 |
| Post-translational protein modification | 1 |
| Metabolism of proteins | 1 |
| Asparagine N-linked glycosylation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| synapse | 4 |
| intracellular protein localization | 3 |
| transport | 2 |
| binding | 2 |
| protein transport | 1 |
| intracellular transport | 1 |
| Golgi vesicle transport | 1 |
| central nervous system development | 1 |
| animal organ development | 1 |
| head development | 1 |
| synaptic vesicle priming | 1 |
| regulation of protein-containing complex assembly | 1 |
| synaptic vesicle exocytosis | 1 |
| protein-containing complex assembly | 1 |
| exocytic process | 1 |
| cell differentiation | 1 |
| generation of neurons | 1 |
| chemical synaptic transmission | 1 |
| vesicle-mediated transport | 1 |
| protein-containing complex disassembly | 1 |
| membrane organization | 1 |
| establishment of protein localization | 1 |
| cellular process | 1 |
| cellular component disassembly | 1 |
| protein-containing complex organization | 1 |
| protein binding | 1 |
| protein-macromolecule adaptor activity | 1 |
| SNARE binding | 1 |
| cytoplasm | 1 |
| presynaptic membrane | 1 |
| presynaptic active zone | 1 |
| synaptic membrane | 1 |
| SNARE complex | 1 |
| extracellular vesicle | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
1420 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NAPA | NSF | P46459 | 991 |
| NAPA | NAPG | Q99747 | 974 |
| NAPA | VAMP2 | P19065 | 950 |
| NAPA | SNAP25 | P13795 | 891 |
| NAPA | STX18 | Q9P2W9 | 890 |
| NAPA | STX1A | Q16623 | 888 |
| NAPA | VAMP7 | P51809 | 863 |
| NAPA | STX6 | O43752 | 845 |
| NAPA | SNAP23 | O00161 | 828 |
| NAPA | STX10 | O60499 | 819 |
| NAPA | STX2 | P32856 | 802 |
| NAPA | SEC22B | O75396 | 789 |
| NAPA | STXBP5 | Q5T5C0 | 789 |
| NAPA | STX4 | Q12846 | 781 |
| NAPA | SNAP29 | O95721 | 773 |
IntAct
159 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STX11 | SNAP23 | psi-mi:“MI:0914”(association) | 0.900 |
| RINT1 | NBAS | psi-mi:“MI:0914”(association) | 0.830 |
| GOSR2 | BET1 | psi-mi:“MI:0914”(association) | 0.810 |
| STX18 | NBAS | psi-mi:“MI:0914”(association) | 0.810 |
| NAPA | SNAP23 | psi-mi:“MI:0914”(association) | 0.780 |
| SNAP23 | NAPA | psi-mi:“MI:0915”(physical association) | 0.780 |
| STX4 | NAPA | psi-mi:“MI:0915”(physical association) | 0.780 |
| NAPA | SNAP23 | psi-mi:“MI:0915”(physical association) | 0.780 |
| NAPA | STX4 | psi-mi:“MI:0915”(physical association) | 0.780 |
| NSF | NAPA | psi-mi:“MI:0915”(physical association) | 0.740 |
| STX5 | NAPA | psi-mi:“MI:0915”(physical association) | 0.740 |
| STX5 | GOSR2 | psi-mi:“MI:0914”(association) | 0.670 |
| STX6 | GOSR2 | psi-mi:“MI:0914”(association) | 0.670 |
| BNIP1 | NBAS | psi-mi:“MI:0914”(association) | 0.640 |
| NAPG | NSF | psi-mi:“MI:0914”(association) | 0.640 |
| SEC22B | ZW10 | psi-mi:“MI:0914”(association) | 0.640 |
| NIPAL1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.640 |
| USE1 | NBAS | psi-mi:“MI:0914”(association) | 0.640 |
| STX7 | SNAP23 | psi-mi:“MI:0914”(association) | 0.640 |
| STX12 | SNAP23 | psi-mi:“MI:0914”(association) | 0.640 |
| VPS45 | STX16 | psi-mi:“MI:0914”(association) | 0.620 |
| BET1 | NSF | psi-mi:“MI:0914”(association) | 0.570 |
| HTT | NAPA | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (360): Nsf (Affinity Capture-Western), NAPA (Affinity Capture-MS), NAPA (Affinity Capture-MS), NAPA (Affinity Capture-MS), NAPA (Affinity Capture-MS), NAPA (Affinity Capture-MS), NAPA (Affinity Capture-MS), NAPA (Affinity Capture-MS), NAPA (Affinity Capture-MS), NAPA (Affinity Capture-MS), RTN4 (Two-hybrid), NAPA (Two-hybrid), NAPA (Two-hybrid), NAPA (Two-hybrid), NAPA (Two-hybrid)
ESM2 similar proteins: B0BNG0, F8RP11, J9VSG5, O35814, O54981, O89079, P31948, P50502, P50503, P54920, P54921, P81125, P85969, Q0JL44, Q15006, Q2UF96, Q3ZBZ8, Q43468, Q4IBU4, Q4QR29, Q4R8N7, Q4WTC0, Q4X0I8, Q5E993, Q5R882, Q5RF31, Q5XEP2, Q5ZIK9, Q5ZLF0, Q60445, Q60864, Q62018, Q6DEU9, Q6INS3, Q6PD62, Q6TGY8, Q7S8M1, Q7ZWU1, Q8AVU9, Q8IZP2
Diamond homologs: O90758, P28663, P54920, P54921, P81125, P81126, P85969, P93798, Q23983, Q9DB05, Q9H115, Q9J5J0, P32602, P78603, Q54NP6, Q75D68, Q9LXZ5, Q9M5P8, Q9P4D0, Q9P4X4, Q9P6A5, Q9SPE6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 137 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 |
|---|---|---|---|
| Intra-Golgi traffic | 12 | 32.1× | 5e-13 |
| Retrograde transport at the Trans-Golgi-Network | 10 | 22.6× | 3e-09 |
| COPII-mediated vesicle transport | 8 | 13.5× | 8e-06 |
| trans-Golgi Network Vesicle Budding | 5 | 13.1× | 2e-03 |
| Intra-Golgi and retrograde Golgi-to-ER traffic | 12 | 13.0× | 1e-08 |
| COPI-dependent Golgi-to-ER retrograde traffic | 10 | 11.4× | 1e-06 |
| Golgi Associated Vesicle Biogenesis | 5 | 10.3× | 4e-03 |
| Translocation of SLC2A4 (GLUT4) to the plasma membrane | 6 | 9.6× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| vesicle fusion | 14 | 69.1× | 1e-20 |
| obsolete vesicle docking | 10 | 62.8× | 6e-14 |
| membrane fusion | 7 | 35.8× | 5e-08 |
| retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | 11 | 30.4× | 1e-11 |
| intra-Golgi vesicle-mediated transport | 6 | 25.9× | 6e-06 |
| Golgi to plasma membrane protein transport | 6 | 25.9× | 6e-06 |
| retrograde transport, endosome to Golgi | 11 | 18.5× | 2e-09 |
| exocytosis | 12 | 14.9× | 3e-09 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
57 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 41 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
1968 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:47493016:G:T | A169D | 1.000 |
| 19:47493453:G:T | A128D | 1.000 |
| 19:47493474:G:T | A121D | 1.000 |
| 19:47500683:G:T | A82D | 1.000 |
| 19:47503442:T:A | K53N | 1.000 |
| 19:47503442:T:G | K53N | 1.000 |
| 19:47488324:C:A | K284N | 0.999 |
| 19:47488324:C:G | K284N | 0.999 |
| 19:47488337:A:G | L280P | 0.999 |
| 19:47492045:G:C | C212W | 0.999 |
| 19:47492047:A:G | C212R | 0.999 |
| 19:47492056:C:G | A209P | 0.999 |
| 19:47492076:G:T | A202D | 0.999 |
| 19:47492088:A:G | L198P | 0.999 |
| 19:47492115:C:T | G189E | 0.999 |
| 19:47492116:C:A | G189W | 0.999 |
| 19:47492116:C:G | G189R | 0.999 |
| 19:47492116:C:T | G189R | 0.999 |
| 19:47492980:G:T | A181D | 0.999 |
| 19:47492981:C:G | A181P | 0.999 |
| 19:47493040:G:T | A161D | 0.999 |
| 19:47493041:C:G | A161P | 0.999 |
| 19:47493126:A:G | S157P | 0.999 |
| 19:47493150:C:G | A149P | 0.999 |
| 19:47493173:G:T | A141D | 0.999 |
| 19:47493174:C:G | A141P | 0.999 |
| 19:47493454:C:G | A128P | 0.999 |
| 19:47493475:C:G | A121P | 0.999 |
| 19:47493477:G:T | A120E | 0.999 |
| 19:47493485:G:C | F117L | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000165342 (19:47511624 G>A,C), RS1000218032 (19:47511277 A>G), RS1000302129 (19:47511919 C>T), RS1000449976 (19:47510500 T>A,G), RS1000453849 (19:47505757 C>A), RS1000509745 (19:47512976 C>T), RS1000656199 (19:47516143 T>C), RS1000673580 (19:47512232 C>T), RS1000963528 (19:47501349 A>C,G), RS1000983768 (19:47496227 G>A,T), RS1001019696 (19:47495846 C>G), RS1001084468 (19:47500050 G>A,C,T), RS1001226069 (19:47510889 C>A,G), RS1001310563 (19:47501163 T>C), RS1001312698 (19:47493847 A>T)
Disease associations
OMIM: gene MIM:603215 | 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): CHEMBL6066865 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects binding, increases reaction, decreases expression | 2 |
| Valproic Acid | increases expression, increases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one | affects expression, affects reaction | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| monomethylarsonous acid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dimethylarsinous acid | increases expression | 1 |
| bisphenol B | increases expression | 1 |
| bisphenol S | increases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Chelating Agents | affects binding, decreases expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Diazinon | increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Furaldehyde | affects localization, increases expression, affects cotreatment | 1 |
| Glucose | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Selenium | increases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Sodium Chloride | affects cotreatment, affects localization, increases 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 |
|---|---|---|---|
| CHEMBL5651864 | Binding | Binding affinity to human NAPA 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.