ATP10B
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Also known as ATPVBKIAA0715FLJ21477
Summary
ATP10B (ATPase phospholipid transporting 10B (putative), HGNC:13543) is a protein-coding gene on chromosome 5q34, encoding Phospholipid-transporting ATPase VB (O94823). Catalytic component of a P4-ATPase flippase complex, which catalyzes the hydrolysis of ATP coupled to the transport of glucosylceramide (GlcCer) from the outer to the inner leaflet of lysosome membranes.
Enables glycosylceramide flippase activity and phosphatidylcholine flippase activity. Involved in lysosomal membrane organization. Located in endoplasmic reticulum; late endosome membrane; and lysosomal membrane. Part of phospholipid-translocating ATPase complex.
Source: NCBI Gene 23120 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 270 total — 1 pathogenic
- MANE Select transcript:
NM_025153
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13543 |
| Approved symbol | ATP10B |
| Name | ATPase phospholipid transporting 10B (putative) |
| Location | 5q34 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ATPVB, KIAA0715, FLJ21477 |
| Ensembl gene | ENSG00000118322 |
| Ensembl biotype | protein_coding |
| OMIM | 619791 |
| Entrez | 23120 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 5 protein_coding_CDS_not_defined, 4 retained_intron, 4 protein_coding
ENST00000326831, ENST00000327245, ENST00000517802, ENST00000517815, ENST00000518411, ENST00000520098, ENST00000520108, ENST00000520975, ENST00000521033, ENST00000522169, ENST00000523758, ENST00000642502, ENST00000943128
RefSeq mRNA: 9 — MANE Select: NM_025153
NM_001366652, NM_001366653, NM_001366654, NM_001366655, NM_001366656, NM_001366657, NM_001366658, NM_001410822, NM_025153
CCDS: CCDS43394, CCDS93811
Canonical transcript exons
ENST00000327245 — 26 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000768793 | 160589592 | 160589696 |
| ENSE00000768795 | 160591059 | 160591139 |
| ENSE00000768797 | 160598770 | 160598970 |
| ENSE00000768799 | 160602577 | 160602702 |
| ENSE00000768803 | 160606765 | 160607086 |
| ENSE00000768805 | 160612741 | 160612925 |
| ENSE00000768807 | 160615838 | 160615964 |
| ENSE00000768809 | 160617864 | 160617973 |
| ENSE00000768811 | 160620347 | 160620950 |
| ENSE00001023039 | 160622394 | 160622585 |
| ENSE00001085854 | 160569496 | 160569683 |
| ENSE00001230569 | 160634354 | 160634606 |
| ENSE00001337977 | 160632129 | 160632367 |
| ENSE00001342125 | 160563120 | 160565900 |
| ENSE00001411810 | 160785559 | 160785803 |
| ENSE00001421415 | 160716909 | 160717034 |
| ENSE00001474066 | 160688760 | 160688943 |
| ENSE00001614134 | 160603965 | 160604041 |
| ENSE00003466681 | 160644138 | 160644244 |
| ENSE00003467494 | 160640461 | 160640592 |
| ENSE00003479520 | 160670463 | 160670667 |
| ENSE00003514972 | 160687800 | 160688094 |
| ENSE00003538189 | 160686079 | 160686273 |
| ENSE00003636342 | 160636182 | 160636309 |
| ENSE00003648837 | 160649171 | 160649256 |
| ENSE00003846336 | 160851941 | 160852211 |
Expression profiles
Bgee: expression breadth ubiquitous, 220 present calls, max score 98.69.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.5990 / max 112.0587, expressed in 156 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 64648 | 0.8218 | 89 |
| 64646 | 0.2674 | 82 |
| 64642 | 0.1866 | 28 |
| 64647 | 0.1284 | 44 |
| 64643 | 0.0804 | 18 |
| 64649 | 0.0348 | 25 |
| 64645 | 0.0312 | 20 |
| 64641 | 0.0251 | 13 |
| 64644 | 0.0232 | 12 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of sigmoid colon | UBERON:0004993 | 98.69 | gold quality |
| colonic mucosa | UBERON:0000317 | 98.46 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 98.09 | gold quality |
| rectum | UBERON:0001052 | 96.52 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 94.98 | gold quality |
| ileal mucosa | UBERON:0000331 | 94.27 | gold quality |
| corpus callosum | UBERON:0002336 | 91.17 | gold quality |
| pancreatic ductal cell | CL:0002079 | 91.11 | gold quality |
| buccal mucosa cell | CL:0002336 | 90.76 | gold quality |
| cauda epididymis | UBERON:0004360 | 90.66 | gold quality |
| duodenum | UBERON:0002114 | 90.56 | gold quality |
| jejunal mucosa | UBERON:0000399 | 90.50 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 89.59 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 89.16 | gold quality |
| gingival epithelium | UBERON:0001949 | 88.86 | gold quality |
| sural nerve | UBERON:0015488 | 88.58 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 88.28 | gold quality |
| squamous epithelium | UBERON:0006914 | 88.25 | gold quality |
| gingiva | UBERON:0001828 | 88.17 | gold quality |
| mammalian vulva | UBERON:0000997 | 88.04 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 87.67 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 87.63 | silver quality |
| gall bladder | UBERON:0002110 | 87.25 | gold quality |
| inferior olivary complex | UBERON:0002127 | 87.24 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 86.96 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 85.02 | gold quality |
| oral cavity | UBERON:0000167 | 84.89 | gold quality |
| corpus epididymis | UBERON:0004359 | 84.75 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 84.48 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 84.33 | silver quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-111727 | yes | 1105.25 |
| E-ANND-3 | yes | 7.88 |
| E-MTAB-6379 | no | 16.31 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): GLI2
miRNA regulators (miRDB)
129 targeting ATP10B, 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-1193 | 100.00 | 65.93 | 529 |
| HSA-MIR-432-3P | 100.00 | 67.86 | 705 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-520G-5P | 99.99 | 66.76 | 658 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-6744-5P | 99.93 | 66.82 | 748 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
| HSA-MIR-211-5P | 99.79 | 71.65 | 2440 |
| HSA-MIR-3913-5P | 99.78 | 67.26 | 968 |
Literature-anchored findings (GeneRIF, showing 4)
- Mutated ATP10B increases Parkinson’s disease risk by compromising lysosomal glucosylceramide export. (PMID:32172343)
- Genetic analysis of ATP10B for Parkinson’s disease in Japan. (PMID:34091411)
- The lipid flippase ATP10B enables cellular lipid uptake under stress conditions. (PMID:38086447)
- Role of ATP10B in Parkinson disease in a cohort from southern Spain. (PMID:38754220)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | atp10b | ENSDARG00000076230 |
| mus_musculus | Atp10b | ENSMUSG00000055415 |
| rattus_norvegicus | Atp10b | ENSRNOG00000003781 |
| drosophila_melanogaster | CG9981 | FBGN0030746 |
| drosophila_melanogaster | CG4301 | FBGN0030747 |
| drosophila_melanogaster | CG31729 | FBGN0051729 |
| caenorhabditis_elegans | tat-5 | WBGENE00009498 |
| caenorhabditis_elegans | WBGENE00017174 |
Paralogs (13): ATP9A (ENSG00000054793), ATP11B (ENSG00000058063), ATP11A (ENSG00000068650), ATP8B1 (ENSG00000081923), ATP11C (ENSG00000101974), ATP8B4 (ENSG00000104043), ATP8A1 (ENSG00000124406), ATP8B3 (ENSG00000130270), ATP8A2 (ENSG00000132932), ATP8B2 (ENSG00000143515), ATP10D (ENSG00000145246), ATP9B (ENSG00000166377), ATP10A (ENSG00000206190)
Protein
Protein identifiers
Phospholipid-transporting ATPase VB — O94823 (reviewed: O94823)
Alternative names: ATPase class V type 10B, P4-ATPase flippase complex alpha subunit ATP10B
All UniProt accessions (3): A0A2R8YDI5, O94823, Q2YDW8
UniProt curated annotations — full annotation on UniProt →
Function. Catalytic component of a P4-ATPase flippase complex, which catalyzes the hydrolysis of ATP coupled to the transport of glucosylceramide (GlcCer) from the outer to the inner leaflet of lysosome membranes. Plays an important role in the maintenance of lysosome membrane integrity and function in cortical neurons.
Subunit / interactions. Component of a P4-ATPase flippase complex which consists of a catalytic alpha subunit ATP10B and an accessory beta subunit TMEM30A.
Subcellular location. Late endosome membrane. Lysosome membrane. Endoplasmic reticulum membrane.
Tissue specificity. Expressed in predominantly in brain structures including medulla oblongata, substantia nigra and basal ganglia. Expressed in the gastrointestinal system with highest levels in the small intestine and colon. Also expressed at low levels in testis and thymus.
Post-translational modifications. Autophosphorylated at the conserved aspartate of the P-type ATPase signature sequence.
Similarity. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O94823-1 | A | yes |
| O94823-2 | B | |
| O94823-3 | C |
RefSeq proteins (5): NP_001353581, NP_001353584, NP_001353586, NP_001397751, NP_079429* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001757 | P_typ_ATPase | Family |
| IPR006539 | P-type_ATPase_IV | Family |
| IPR008250 | ATPase_P-typ_transduc_dom_A_sf | Homologous_superfamily |
| IPR018303 | ATPase_P-typ_P_site | PTM |
| IPR023214 | HAD_sf | Homologous_superfamily |
| IPR023298 | ATPase_P-typ_TM_dom_sf | Homologous_superfamily |
| IPR023299 | ATPase_P-typ_cyto_dom_N | Homologous_superfamily |
| IPR032630 | P_typ_ATPase_c | Domain |
| IPR032631 | P-type_ATPase_N | Domain |
| IPR036412 | HAD-like_sf | Homologous_superfamily |
| IPR044492 | P_typ_ATPase_HD_dom | Domain |
Pfam: PF13246, PF16209, PF16212
Enzyme classification (BRENDA):
- EC 7.6.2.1 — P-type phospholipid transporter (BRENDA: 22 organisms, 260 substrates, 62 inhibitors, 53 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
4 substrates with measured Km, best-characterized 4. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| ATP | 0.016–2.215 | 41 |
| P-NITROPHENYL PHOSPHATE | 1.17–1.46 | 3 |
| ACETYL PHOSPHATE | 1.03–1.31 | 2 |
| 1-PALMITOYL-2-OLEOYL-SN-GLYCERO-3-PHOSPHO-L-SERI | 0.111 | 1 |
Catalyzed reactions (Rhea), 1 shown:
- a beta-D-glucosyl-(1<->1’)-N-acylsphing-4-enine(out) + ATP + H2O = a beta-D-glucosyl-(1<->1’)-N-acylsphing-4-enine(in) + ADP + phosphate + H(+) (RHEA:66036)
UniProt features (69 total): binding site 18, sequence variant 16, topological domain 11, transmembrane region 10, region of interest 3, compositionally biased region 3, splice variant 3, mutagenesis site 2, chain 1, active site 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O94823-F1 | 71.60 | 0.23 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 433 (4-aspartylphosphate intermediate)
Ligand- & substrate-binding residues (18): 433; 433; 434; 435; 435; 724; 766; 790; 835; 915; 916; 917 …
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 210 | loss of atpase flippase activity. |
| 433 | abolishes autophosphorylation and atpase flippase activity. |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-936837 | Ion transport by P-type ATPases |
| R-HSA-382551 | Transport of small molecules |
| R-HSA-983712 | Ion channel transport |
MSigDB gene sets: 172 (showing top):
MORF_FLT1, GOBP_VACUOLE_ORGANIZATION, GOCC_VACUOLAR_MEMBRANE, GOBP_REGULATION_OF_MEMBRANE_LIPID_DISTRIBUTION, MORF_RAD51L3, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, WEI_MYCN_TARGETS_WITH_E_BOX, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, MORF_IL4, MORF_THPO, TGGNNNNNNKCCAR_UNKNOWN, GOBP_PHOSPHOLIPID_TRANSPORT, GOBP_LYTIC_VACUOLE_ORGANIZATION, GOBP_MEMBRANE_ORGANIZATION, YY1_01
GO Biological Process (5): phospholipid translocation (GO:0045332), lysosomal membrane organization (GO:0097212), lipid transport (GO:0006869), phospholipid transport (GO:0015914), lipid translocation (GO:0034204)
GO Molecular Function (10): magnesium ion binding (GO:0000287), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), ATPase-coupled intramembrane lipid carrier activity (GO:0140326), phosphatidylcholine flippase activity (GO:0140345), glycosylceramide flippase activity (GO:0140351), nucleotide binding (GO:0000166), transporter activity (GO:0005215), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (10): lysosomal membrane (GO:0005765), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), membrane (GO:0016020), late endosome membrane (GO:0031902), phospholipid-translocating ATPase complex (GO:1990531), lysosome (GO:0005764), endosome (GO:0005768), endomembrane system (GO:0012505)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Ion channel transport | 1 |
| Transport of small molecules | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| lipid transport | 2 |
| ATP-dependent activity | 2 |
| endomembrane system | 2 |
| cellular anatomical structure | 2 |
| phospholipid transport | 1 |
| lipid translocation | 1 |
| lysosome organization | 1 |
| membrane organization | 1 |
| transport | 1 |
| lipid localization | 1 |
| organophosphate ester transport | 1 |
| regulation of membrane lipid distribution | 1 |
| metal ion binding | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| intramembrane lipid carrier activity | 1 |
| phosphatidylcholine intramembrane carrier activity | 1 |
| glycerophospholipid flippase activity | 1 |
| sphingolipid intramembrane carrier activity | 1 |
| flippase activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| molecular_function | 1 |
| binding | 1 |
| cation binding | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| membrane | 1 |
| cell periphery | 1 |
| late endosome | 1 |
| endosome membrane | 1 |
| transporter complex | 1 |
| lytic vacuole | 1 |
| cytoplasmic vesicle | 1 |
Protein interactions and networks
STRING
960 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ATP10B | CDC50A | Q9NV96 | 615 |
| ATP10B | CDC50B | Q3MIR4 | 520 |
| ATP10B | ATP10A | O60312 | 439 |
| ATP10B | ATP10D | Q9P241 | 405 |
| ATP10B | VPS13C | Q709C8 | 379 |
| ATP10B | TEKT5 | Q96M29 | 355 |
| ATP10B | TPBGL | P0DKB5 | 344 |
| ATP10B | F5GXT2 | F5GXT2 | 327 |
| ATP10B | PLA2G6 | O60733 | 317 |
| ATP10B | MAST4 | O15021 | 310 |
| ATP10B | OR5P2 | Q8WZ92 | 305 |
| ATP10B | PKD2L2 | Q9NZM6 | 305 |
| ATP10B | THG1L | Q9NWX6 | 293 |
| ATP10B | SH3TC1 | Q8TE82 | 291 |
| ATP10B | ATP9B | O43861 | 290 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ATP10B | TMEM30A | psi-mi:“MI:0915”(physical association) | 0.400 |
| PHACTR3 | KCNK3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (7): ATP10B (Affinity Capture-MS), ATP10B (Affinity Capture-MS), ATP10B (Positive Genetic), ATP11A (Cross-Linking-MS (XL-MS)), ATP10B (Affinity Capture-MS), ATP10B (Affinity Capture-MS), ATP10B (Affinity Capture-MS)
ESM2 similar proteins: A0A131MCZ8, A3KMI0, A6H8T7, A7T1N0, B1AWN4, B7ZC32, D3ZEY4, D3ZSI8, F4INY4, G0S196, O36028, O54827, O60312, O60353, O60423, O62852, O94823, P21441, P22717, P32660, P34586, P49619, P49620, Q01063, Q03603, Q09891, Q12675, Q2NKY8, Q38SD2, Q39017, Q3UHC2, Q5BJS0, Q5CZZ9, Q5R607, Q5ZI74, Q6P158, Q6P5D3, Q6P5E8, Q6UQ17, Q7L2E3
Diamond homologs: A1A4J6, A3FIN4, B1AWN4, C7EXK4, D4AA47, D4ABB8, F1Q4S1, G0S196, G2X7W6, G5EBH1, O36028, O43520, O43861, O54827, O60312, O60423, O94296, O94823, P32660, P39524, P40527, P57792, P70704, P98195, P98196, P98197, P98198, P98199, P98200, P98204, P98205, Q09891, Q10309, Q12675, Q148W0, Q29449, Q37145, Q5BL50, Q6DFW5, Q6UQ17
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
270 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 222 |
| Likely benign | 19 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 441920 | GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) | Pathogenic |
SpliceAI
4863 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:160602572:CTT:C | donor_loss | 1.0000 |
| 5:160602573:TTACC:T | donor_loss | 1.0000 |
| 5:160602574:TAC:T | donor_loss | 1.0000 |
| 5:160602575:A:AC | donor_gain | 1.0000 |
| 5:160602575:AC:A | donor_gain | 1.0000 |
| 5:160602576:C:CA | donor_gain | 1.0000 |
| 5:160602576:CC:C | donor_gain | 1.0000 |
| 5:160602576:CCA:C | donor_gain | 1.0000 |
| 5:160602576:CCACG:C | donor_gain | 1.0000 |
| 5:160602699:CAGC:C | acceptor_gain | 1.0000 |
| 5:160602700:AGCC:A | acceptor_loss | 1.0000 |
| 5:160602701:GC:G | acceptor_gain | 1.0000 |
| 5:160602702:CC:C | acceptor_gain | 1.0000 |
| 5:160602702:CCTG:C | acceptor_loss | 1.0000 |
| 5:160602703:C:CC | acceptor_gain | 1.0000 |
| 5:160602704:T:G | acceptor_loss | 1.0000 |
| 5:160603959:CAATA:C | donor_loss | 1.0000 |
| 5:160603960:AATAC:A | donor_loss | 1.0000 |
| 5:160603962:TA:T | donor_loss | 1.0000 |
| 5:160603963:A:C | donor_loss | 1.0000 |
| 5:160604038:TCAC:T | acceptor_gain | 1.0000 |
| 5:160604039:CAC:C | acceptor_gain | 1.0000 |
| 5:160604039:CACC:C | acceptor_gain | 1.0000 |
| 5:160604040:ACCTG:A | acceptor_loss | 1.0000 |
| 5:160604042:C:CC | acceptor_gain | 1.0000 |
| 5:160604043:T:A | acceptor_loss | 1.0000 |
| 5:160606767:A:AC | donor_gain | 1.0000 |
| 5:160606817:A:AC | donor_gain | 1.0000 |
| 5:160606818:C:CC | donor_gain | 1.0000 |
| 5:160606818:CT:C | donor_gain | 1.0000 |
AlphaMissense
9644 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:160634437:T:G | D433A | 0.999 |
| 5:160604026:T:A | D1059V | 0.998 |
| 5:160604026:T:G | D1059A | 0.998 |
| 5:160620465:A:C | F766L | 0.998 |
| 5:160620465:A:T | F766L | 0.998 |
| 5:160620467:A:G | F766L | 0.998 |
| 5:160620600:G:C | S721R | 0.998 |
| 5:160620600:G:T | S721R | 0.998 |
| 5:160620602:T:G | S721R | 0.998 |
| 5:160634429:C:A | G436W | 0.998 |
| 5:160634437:T:A | D433V | 0.998 |
| 5:160634438:C:G | D433H | 0.998 |
| 5:160569651:G:C | S1261R | 0.997 |
| 5:160569651:G:T | S1261R | 0.997 |
| 5:160569653:T:G | S1261R | 0.997 |
| 5:160604025:A:C | D1059E | 0.997 |
| 5:160604025:A:T | D1059E | 0.997 |
| 5:160604027:C:G | D1059H | 0.997 |
| 5:160604028:A:C | N1058K | 0.997 |
| 5:160604028:A:T | N1058K | 0.997 |
| 5:160617913:A:G | L826P | 0.997 |
| 5:160620392:C:G | G791R | 0.997 |
| 5:160620393:C:A | K790N | 0.997 |
| 5:160620393:C:G | K790N | 0.997 |
| 5:160634393:A:G | C448R | 0.997 |
| 5:160591086:G:C | S1206R | 0.996 |
| 5:160591086:G:T | S1206R | 0.996 |
| 5:160591088:T:G | S1206R | 0.996 |
| 5:160604041:C:T | G1054D | 0.996 |
| 5:160606773:A:G | L1051P | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000003527 (5:160596438 A>T), RS1000049944 (5:160650603 T>C), RS1000068161 (5:160834780 G>A,C), RS1000068308 (5:160703033 A>G), RS1000069330 (5:160644697 A>G), RS1000087073 (5:160813159 C>T), RS1000101103 (5:160611354 CCTT>C), RS1000102543 (5:160924327 C>A), RS1000103460 (5:160772309 T>A,C), RS1000124431 (5:160782995 T>A,G), RS1000125543 (5:160901297 T>A), RS1000128318 (5:160799641 A>G), RS1000134271 (5:160823178 G>A,C), RS1000136643 (5:160777583 C>A), RS1000141046 (5:160638923 T>C)
Disease associations
OMIM: gene MIM:619791 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): primary amenorrhea (MONDO:1060208)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006053_3 | Dermatomyositis or juvenile dermatomyositis | 8.000000e-06 |
| GCST010043_132 | Asthma | 1.000000e-12 |
| GCST010172_12 | Idiopathic downbeat nystagmus | 6.000000e-06 |
| GCST010572_1 | Sweet taste preference | 3.000000e-06 |
| GCST010572_4 | Sweet taste preference | 5.000000e-07 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010156 | sweet liking measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — P4 P-type ATPases: Phospholipid-transporting ATPases
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression | 3 |
| bisphenol A | affects cotreatment, increases methylation, decreases expression, decreases reaction, increases abundance | 2 |
| ginger extract | decreases expression, decreases reaction, increases abundance | 1 |
| tungsten carbide | affects binding, decreases expression | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| trichostatin A | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | increases expression, affects cotreatment, affects response to substance | 1 |
| avobenzone | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| Temozolomide | increases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Amphotericin B | increases expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cobalt | affects binding, decreases expression | 1 |
| Lead | affects expression | 1 |
| Lipopolysaccharides | affects response to substance, increases expression, affects cotreatment | 1 |
| Methapyrilene | increases methylation | 1 |
| Oils, Volatile | increases abundance, decreases expression, decreases reaction | 1 |
| Testosterone | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Permethrin | decreases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 induced pluripotent stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E3SX | BJ SiPS-D TH-TdTomato ATP10B KO clone #1 | Induced pluripotent stem cell | Male |
| CVCL_E3SY | BJ SiPS-D TH-TdTomato ATP10B KO clone #4 | Induced pluripotent stem cell | Male |
Clinical trials (associated diseases)
1 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT07164248 | Not specified | COMPLETED | Evaluation of Bone Mineral Density Indications and Outcomes in Female Adolescents: Implications for Early Detection of Osteopenia/Osteoporosis and Gynecologic Practice |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): dermatomyositis, juvenile dermatomyositis, primary amenorrhea