NIPSNAP1
gene geneOn this page
Summary
NIPSNAP1 (nipsnap homolog 1, HGNC:7827) is a protein-coding gene on chromosome 22q12.2, encoding Protein NipSnap homolog 1 (Q9BPW8). Protein involved in mitophagy by facilitating recruitment of the autophagy machinery required for clearance of damaged mitochondria.
This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. A similar protein in mice inhibits the calcium channel TRPV6, and is also localized to the inner mitochondrial membrane where it may play a role in mitochondrial DNA maintenance. A pseudogene of this gene is located on the short arm of chromosome 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
Source: NCBI Gene 8508 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 40 total
- Druggable target: yes
- MANE Select transcript:
NM_003634
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7827 |
| Approved symbol | NIPSNAP1 |
| Name | nipsnap homolog 1 |
| Location | 22q12.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000184117 |
| Ensembl biotype | protein_coding |
| OMIM | 603249 |
| Entrez | 8508 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 10 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000216121, ENST00000415100, ENST00000437094, ENST00000455496, ENST00000494966, ENST00000496944, ENST00000880436, ENST00000880437, ENST00000880438, ENST00000880439, ENST00000880440, ENST00000937731, ENST00000937732
RefSeq mRNA: 2 — MANE Select: NM_003634
NM_001202502, NM_003634
CCDS: CCDS13860
Canonical transcript exons
ENST00000216121 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000652086 | 29558870 | 29558953 |
| ENSE00000652087 | 29560734 | 29560828 |
| ENSE00000652089 | 29561506 | 29561646 |
| ENSE00001309149 | 29554808 | 29555999 |
| ENSE00001701004 | 29561171 | 29561202 |
| ENSE00001878960 | 29580985 | 29581113 |
| ENSE00003487397 | 29570405 | 29570532 |
| ENSE00003518111 | 29569193 | 29569287 |
| ENSE00003540524 | 29561792 | 29561862 |
| ENSE00003577900 | 29570162 | 29570207 |
Expression profiles
Bgee: expression breadth ubiquitous, 280 present calls, max score 97.76.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.4179 / max 265.3471, expressed in 1774 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 193544 | 28.4179 | 1774 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 97.76 | gold quality |
| cortical plate | UBERON:0005343 | 97.73 | gold quality |
| embryo | UBERON:0000922 | 97.61 | gold quality |
| ganglionic eminence | UBERON:0004023 | 97.56 | gold quality |
| liver | UBERON:0002107 | 97.18 | gold quality |
| renal medulla | UBERON:0000362 | 96.15 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 95.98 | gold quality |
| ventricular zone | UBERON:0003053 | 95.96 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 95.85 | gold quality |
| olfactory bulb | UBERON:0002264 | 95.72 | silver quality |
| type B pancreatic cell | CL:0000169 | 95.71 | silver quality |
| substantia nigra pars compacta | UBERON:0001965 | 95.71 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 95.48 | silver quality |
| substantia nigra pars reticulata | UBERON:0001966 | 95.21 | gold quality |
| right adrenal gland | UBERON:0001233 | 95.09 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 94.97 | gold quality |
| cerebellar vermis | UBERON:0004720 | 94.97 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 94.97 | gold quality |
| prefrontal cortex | UBERON:0000451 | 94.89 | gold quality |
| adrenal tissue | UBERON:0018303 | 94.80 | gold quality |
| pons | UBERON:0000988 | 94.64 | gold quality |
| pancreatic ductal cell | CL:0002079 | 94.52 | silver quality |
| middle temporal gyrus | UBERON:0002771 | 94.41 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 94.30 | silver quality |
| kidney | UBERON:0002113 | 94.29 | gold quality |
| islet of Langerhans | UBERON:0000006 | 94.25 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 94.25 | gold quality |
| right frontal lobe | UBERON:0002810 | 94.20 | gold quality |
| nucleus accumbens | UBERON:0001882 | 94.10 | gold quality |
| cingulate cortex | UBERON:0003027 | 94.10 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-10 | yes | 16.60 |
| E-ANND-3 | yes | 8.99 |
| E-GEOD-36552 | no | 153.35 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
66 targeting NIPSNAP1, 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-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-1193 | 100.00 | 65.93 | 529 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-4493 | 99.90 | 66.48 | 977 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-202-3P | 99.84 | 71.41 | 1290 |
| HSA-MIR-6515-3P | 99.82 | 68.19 | 1933 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-548AU-3P | 99.70 | 68.22 | 1373 |
| HSA-MIR-4530 | 99.69 | 66.47 | 1509 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
Literature-anchored findings (GeneRIF, showing 9)
- This study presents the first physiological function of mouse Nipsnap1 as an associated protein inhibiting transient receptor potential vanilloid channel 6 activity that possibly exerts its effect directly at the plasma membrane. (PMID:18392847)
- NIPSNAP1 is an interacting molecule of NST and plays a crucial role in pain transmission. (PMID:22311985)
- Structural variants unique to the malignant cell line inactivated: gene NIPSNAP1, putative tumor suppressor that inhibits TRPV6, an anti-apoptotic oncogene implicated in prostate cancer progression. (PMID:23792589)
- NIPSNAP1 mutations could not explain phenotype of patients with combined oxidative phosphorylation system deficiencies. (PMID:24137763)
- These results suggest that changes in NIPSNAP1 expression may contribute to the pathogenesis of inflammatory pain. (PMID:27030720)
- identified mitochondrial proteins 4-nitrophenylphosphatase domain and non-neuronal synaptosomal associated protein 25-like protein homolog (NIP-SNAP)-1 and -2 as clarithromycin-binding proteins. Production of proinflammatory cytokines induced by lipopolysaccharides and Pam3-CSK4 in epithelial cell lines BEAS-2B and T24 were suppressed by knockdown of NIP-SNAP-1 or -2 (PMID:27998764)
- NIP-SNAP-1 and -2 localized in the mitochondrial inner membrane space, whereas HSP60 localized in the matrix. Expression levels of NIP-SNAP-1 and -2 in cells were decreased by knockdown of HSP60, but not HSP10. The findings indicate that HSP60 promotes folding and maintains the stability of NIP-SNAP-1 and -2. (PMID:28011268)
- NIPSNAP1 and NIPSNAP2 have a redundant function in mitophagy and are predominantly expressed in different tissues. (PMID:30982665)
- The Tumorigenic Effect of lncRNA AFAP1-AS1 is Mediated by Translated Peptide ATMLP Under the Control of m[6] A Methylation. (PMID:36871154)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nipsnap1 | ENSDARG00000005320 |
| mus_musculus | Nipsnap1 | ENSMUSG00000034285 |
| rattus_norvegicus | Nipsnap1 | ENSRNOG00000008374 |
| drosophila_melanogaster | Nipsnap | FBGN0030724 |
| caenorhabditis_elegans | WBGENE00019301 |
Paralogs (3): NIPSNAP3A (ENSG00000136783), NIPSNAP2 (ENSG00000146729), NIPSNAP3B (ENSG00000165028)
Protein
Protein identifiers
Protein NipSnap homolog 1 — Q9BPW8 (reviewed: Q9BPW8)
All UniProt accessions (4): C9JDV8, Q9BPW8, F8WCR5, H7C2U6
UniProt curated annotations — full annotation on UniProt →
Function. Protein involved in mitophagy by facilitating recruitment of the autophagy machinery required for clearance of damaged mitochondria. Accumulates on the mitochondria surface in response to mitochondrial depolarization and acts as a ’eat me’ signal by recruiting proteins involved in selective autophagy, such as autophagy receptors (CALCOCO2/NDP52, NBR1, SQSTM1/p62, TAX1BP1 and WDFY3/ALFY) and ATG8 family proteins (MAP1LC3A, MAP1LC3B, MAP1LC3C, GABARAP, GABARAPL1 and GABARAPL2).
Subunit / interactions. Interacts with CALCOCO2/NDP52, NBR1, SQSTM1/p62, TAX1BP1 and WDFY3/ALFY. Interacts with ATG8 family proteins (MAP1LC3A, MAP1LC3B, MAP1LC3C, GABARAP, GABARAPL1 and GABARAPL2).
Subcellular location. Mitochondrion matrix.
Tissue specificity. Ubiquitous. Highest expression in liver.
Post-translational modifications. In response to mitochondrial stress, the precursor protein is ubiquitinated by the SIFI complex in the cytoplasm before mitochondrial import, leading to its degradation. Within the SIFI complex, UBR4 initiates ubiquitin chain that are further elongated or branched by KCMF1.
Similarity. Belongs to the NipSnap family.
RefSeq proteins (2): NP_001189431, NP_003625* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011008 | Dimeric_a/b-barrel | Homologous_superfamily |
| IPR012577 | NIPSNAP | Domain |
| IPR051557 | NipSnap_domain | Family |
Pfam: PF07978
UniProt features (17 total): modified residue 12, transit peptide 1, chain 1, sequence variant 1, sequence conflict 1, short sequence motif 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BPW8-F1 | 83.50 | 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 (12): 146, 191, 193, 193, 279, 65, 66, 73, 80, 129, 143, 146
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 152 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, TGACCTY_ERR1_Q2, GOBP_MACROAUTOPHAGY, GOBP_SENSORY_PERCEPTION_OF_PAIN, HNF4_01, DODD_NASOPHARYNGEAL_CARCINOMA_UP, WANG_TARGETS_OF_MLL_CBP_FUSION_DN, GOBP_SENSORY_PERCEPTION, AFFAR_YY1_TARGETS_DN, WONG_MITOCHONDRIA_GENE_MODULE, CUI_TCF21_TARGETS_2_UP, PARENT_MTOR_SIGNALING_UP, CHIBA_RESPONSE_TO_TSA, NUYTTEN_EZH2_TARGETS_DN
GO Biological Process (3): mitophagy (GO:0000423), sensory perception of pain (GO:0019233), autophagy (GO:0006914)
GO Molecular Function (2): protein-macromolecule adaptor activity (GO:0030674), protein binding (GO:0005515)
GO Cellular Component (4): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), synaptic membrane (GO:0097060), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| autophagy of mitochondrion | 1 |
| macroautophagy | 1 |
| sensory perception | 1 |
| catabolic process | 1 |
| transmembrane transport | 1 |
| process utilizing autophagic mechanism | 1 |
| protein binding | 1 |
| molecular adaptor activity | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| mitochondrion | 1 |
| intracellular organelle lumen | 1 |
| synapse | 1 |
| plasma membrane region | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1168 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NIPSNAP1 | TRPV6 | Q9H1D0 | 860 |
| NIPSNAP1 | TRPV5 | Q9NQA5 | 835 |
| NIPSNAP1 | THOC5 | Q13769 | 781 |
| NIPSNAP1 | SNAP25 | P13795 | 732 |
| NIPSNAP1 | TAX1BP1 | Q86VP1 | 721 |
| NIPSNAP1 | GABARAPL2 | P60520 | 719 |
| NIPSNAP1 | F5GZY7 | F5GZY7 | 708 |
| NIPSNAP1 | CALCOCO2 | Q13137 | 708 |
| NIPSNAP1 | NBR1 | Q14596 | 682 |
| NIPSNAP1 | BNIP3L | O60238 | 617 |
| NIPSNAP1 | GABARAP | O95166 | 585 |
| NIPSNAP1 | SQSTM1 | Q13501 | 582 |
| NIPSNAP1 | PINK1 | Q9BXM7 | 532 |
| NIPSNAP1 | BNIP3 | Q12983 | 529 |
| NIPSNAP1 | FUNDC1 | Q8IVP5 | 514 |
IntAct
115 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| WDR19 | TULP3 | psi-mi:“MI:0914”(association) | 0.860 |
| CTTNBP2NL | STRN | psi-mi:“MI:2364”(proximity) | 0.820 |
| NDUFS3 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| HSPD1 | NUDT19 | psi-mi:“MI:0914”(association) | 0.710 |
| GABARAPL2 | IPO5 | psi-mi:“MI:0914”(association) | 0.690 |
| SQSTM1 | NIPSNAP1 | psi-mi:“MI:0915”(physical association) | 0.650 |
| KLHL22 | TMEM223 | psi-mi:“MI:0914”(association) | 0.640 |
| NIPSNAP2 | HSPD1 | psi-mi:“MI:0914”(association) | 0.610 |
| GABARAPL1 | IPO5 | psi-mi:“MI:0914”(association) | 0.590 |
| RGS2 | NIPSNAP1 | psi-mi:“MI:0915”(physical association) | 0.550 |
| PRKCI | NIPSNAP2 | psi-mi:“MI:0914”(association) | 0.530 |
| PRKCZ | IPO5 | psi-mi:“MI:0914”(association) | 0.530 |
| EBNA-LP | HAX1 | psi-mi:“MI:0914”(association) | 0.530 |
| MAP1LC3B | NIPSNAP2 | psi-mi:“MI:0914”(association) | 0.520 |
| IFT140 | ACSL3 | psi-mi:“MI:0914”(association) | 0.510 |
| CDH1 | ACTN4 | psi-mi:“MI:0914”(association) | 0.500 |
| GPC1 | SNAP23 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GPC1 | GANAB | psi-mi:“MI:0915”(physical association) | 0.400 |
| NIPSNAP1 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| NIPSNAP1 | E6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DBI | NIPSNAP1 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (298): NIPSNAP1 (Affinity Capture-RNA), NIPSNAP1 (Affinity Capture-RNA), NIPSNAP1 (Affinity Capture-RNA), NIPSNAP1 (Affinity Capture-RNA), NIPSNAP1 (Affinity Capture-MS), NIPSNAP1 (Affinity Capture-MS), NIPSNAP1 (Affinity Capture-MS), NIPSNAP1 (Affinity Capture-MS), NIPSNAP1 (Affinity Capture-MS), NIPSNAP1 (Affinity Capture-MS), NIPSNAP1 (Affinity Capture-MS), NIPSNAP1 (Proximity Label-MS), NIPSNAP1 (Affinity Capture-MS), CCT6A (Affinity Capture-MS), FAT1 (Affinity Capture-MS)
ESM2 similar proteins: A0A063C1W0, A0A2I1C3W7, A0A5B8YU67, A2BGU9, B3P9N0, B4I9J6, B4PY69, B4R313, B8DH02, B9DKR5, B9FK36, C1KX66, E1ACR2, F4I1L3, F6NVH9, I1RVD6, O46084, O55125, O55126, O75323, P27680, P34492, P91929, Q09422, Q16KN5, Q19000, Q29JQ0, Q4WAZ2, Q502L2, Q54I58, Q562B5, Q5FWM4, Q61CA3, Q6C3P4, Q71XQ0, Q8BX10, Q8IQ70, Q8S6N5, Q8SYD0, Q8Y5F1
Diamond homologs: F6NVH9, O55125, O55126, O75323, P34492, Q9BPW8, Q9PU58, Q9VXK0, A6NDG6, D3ZDK7, P0DKC3, P0DKC4, P19881, P60487, Q00472, Q2T9S4, Q3ZBF9, Q5F4B1, Q6ZT62, Q8CHP8, Q8GWU0, Q8VD52, Q96GD0
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 105 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 |
|---|---|---|---|
| Selective autophagy | 5 | 20.2× | 9e-04 |
| Macroautophagy | 8 | 13.4× | 6e-05 |
| Autophagy | 5 | 10.8× | 7e-03 |
| Fatty acid metabolism | 5 | 9.5× | 8e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitophagy | 7 | 25.3× | 5e-06 |
| autophagosome maturation | 6 | 23.9× | 5e-05 |
| macroautophagy | 5 | 13.7× | 6e-03 |
| autophagosome assembly | 5 | 12.8× | 6e-03 |
| autophagy | 7 | 8.8× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
40 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 23 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1342 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:29555995:GGGGA:G | acceptor_gain | 1.0000 |
| 22:29556000:C:CC | acceptor_gain | 1.0000 |
| 22:29558865:CTCA:C | donor_loss | 1.0000 |
| 22:29558866:TCAC:T | donor_loss | 1.0000 |
| 22:29558867:CACCT:C | donor_loss | 1.0000 |
| 22:29558868:A:AC | donor_gain | 1.0000 |
| 22:29558868:A:AT | donor_loss | 1.0000 |
| 22:29558869:C:CA | donor_loss | 1.0000 |
| 22:29558869:C:CC | donor_gain | 1.0000 |
| 22:29558949:ATAGG:A | acceptor_gain | 1.0000 |
| 22:29558950:TAGG:T | acceptor_gain | 1.0000 |
| 22:29558951:AGG:A | acceptor_gain | 1.0000 |
| 22:29558951:AGGC:A | acceptor_loss | 1.0000 |
| 22:29558952:GG:G | acceptor_gain | 1.0000 |
| 22:29558953:GC:G | acceptor_loss | 1.0000 |
| 22:29558954:C:CC | acceptor_gain | 1.0000 |
| 22:29561169:A:AC | donor_gain | 1.0000 |
| 22:29561170:C:CC | donor_gain | 1.0000 |
| 22:29561517:ATGT:A | donor_gain | 1.0000 |
| 22:29561520:T:TA | donor_gain | 1.0000 |
| 22:29561526:G:C | donor_gain | 1.0000 |
| 22:29561644:CTC:C | acceptor_gain | 1.0000 |
| 22:29561644:CTCCT:C | acceptor_loss | 1.0000 |
| 22:29561646:CCTG:C | acceptor_loss | 1.0000 |
| 22:29561647:CT:C | acceptor_loss | 1.0000 |
| 22:29561859:TGCA:T | acceptor_gain | 1.0000 |
| 22:29561861:CA:C | acceptor_gain | 1.0000 |
| 22:29561863:C:CC | acceptor_gain | 1.0000 |
| 22:29569188:CTTAC:C | donor_loss | 1.0000 |
| 22:29569189:TTACC:T | donor_loss | 1.0000 |
AlphaMissense
1856 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:29558892:C:A | W256C | 1.000 |
| 22:29558892:C:G | W256C | 1.000 |
| 22:29558894:A:G | W256R | 1.000 |
| 22:29558894:A:T | W256R | 1.000 |
| 22:29558909:A:G | W251R | 1.000 |
| 22:29558909:A:T | W251R | 1.000 |
| 22:29560737:A:G | W235R | 1.000 |
| 22:29560737:A:T | W235R | 1.000 |
| 22:29561182:C:A | W200C | 1.000 |
| 22:29561182:C:G | W200C | 1.000 |
| 22:29561184:A:G | W200R | 1.000 |
| 22:29561184:A:T | W200R | 1.000 |
| 22:29561198:C:T | G195E | 1.000 |
| 22:29561525:A:G | L187P | 1.000 |
| 22:29561568:A:G | W173R | 1.000 |
| 22:29561568:A:T | W173R | 1.000 |
| 22:29569226:A:G | W112R | 1.000 |
| 22:29569226:A:T | W112R | 1.000 |
| 22:29558881:A:T | V260D | 0.999 |
| 22:29558893:C:G | W256S | 0.999 |
| 22:29558907:C:A | W251C | 0.999 |
| 22:29558907:C:G | W251C | 0.999 |
| 22:29558932:C:G | R243P | 0.999 |
| 22:29558933:G:C | R243G | 0.999 |
| 22:29560735:C:A | W235C | 0.999 |
| 22:29560735:C:G | W235C | 0.999 |
| 22:29560739:A:G | L234P | 0.999 |
| 22:29560743:G:C | H233D | 0.999 |
| 22:29560763:C:A | G226V | 0.999 |
| 22:29560763:C:T | G226E | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000062643 (22:29579088 T>C), RS1000093507 (22:29578737 C>G), RS1000239687 (22:29558220 A>G), RS1000335266 (22:29572272 C>A,T), RS1000371435 (22:29577145 G>A,C), RS1000468348 (22:29565046 C>A), RS1000590172 (22:29558446 G>A,C), RS1000616784 (22:29558105 CA>C), RS1000858580 (22:29582597 G>A,C), RS1001071836 (22:29557756 C>T), RS1001101513 (22:29576882 G>A), RS1001119982 (22:29577322 G>A,T), RS1001363135 (22:29569985 A>C,G), RS1001571883 (22:29569747 C>T), RS1001584491 (22:29576646 C>T)
Disease associations
OMIM: gene MIM:603249 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90000025_705 | Appendicular lean mass | 6.000000e-11 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004980 | appendicular lean mass |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4295933 (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 |
|---|---|---|---|---|
| 6.07 | Kd | 856.6 | nM | CHEMBL5653589 |
| 6.07 | ED50 | 856.6 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 4 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 | 2148868: Binding affinity to human NIPSNAP1 incubated for 45 mins by Kinobead based pull down assay | kd | 0.8566 | uM |
CTD chemical–gene interactions
52 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases methylation, affects cotreatment, decreases expression, affects expression | 7 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| bisphenol A | affects expression, increases expression | 2 |
| sodium arsenite | decreases expression, increases abundance | 2 |
| cobaltous chloride | decreases expression | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression, decreases expression | 2 |
| Decitabine | affects expression, increases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Arsenic | increases methylation, decreases expression, increases abundance | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression | 2 |
| Tretinoin | decreases expression, increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| tetrahydropalmatine | increases expression | 1 |
| arsenite | increases reaction, affects binding | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| periodate-oxidized adenosine | affects expression | 1 |
| cupric chloride | decreases expression | 1 |
| tamibarotene | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | increases expression, affects cotreatment | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Bortezomib | decreases expression | 1 |
ChEMBL screening assays
3 unique, capped per target: 3 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4118594 | Binding | Binding affinity to NIPSNAP1 in human NCI-H23 cells at 1 uM by mass spectrometry based pull down assay | Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem |
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.