Details for: ATP6AP1

Gene ID: 537

Symbol: ATP6AP1

Ensembl ID: ENSG00000071553

Description: ATPase H+ transporting accessory protein 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 277.7327
    Cell Significance Index: -43.2000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 164.2858
    Cell Significance Index: -41.6700
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 126.5695
    Cell Significance Index: -52.1400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 106.9274
    Cell Significance Index: -43.4400
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 94.7733
    Cell Significance Index: -48.7500
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 77.9110
    Cell Significance Index: -52.2800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 37.7224
    Cell Significance Index: -46.5100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 16.1337
    Cell Significance Index: -43.2200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 12.8506
    Cell Significance Index: -39.4700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 12.0082
    Cell Significance Index: -47.3900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 6.0084
    Cell Significance Index: -13.1500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 3.0769
    Cell Significance Index: 212.7900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 2.3494
    Cell Significance Index: 123.3500
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 2.0361
    Cell Significance Index: 18.7500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.8345
    Cell Significance Index: 85.5400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.8162
    Cell Significance Index: 24.7800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.4665
    Cell Significance Index: 159.5100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.3621
    Cell Significance Index: 81.7800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.2598
    Cell Significance Index: 227.1000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.1660
    Cell Significance Index: 60.5700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.1254
    Cell Significance Index: 614.6200
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.1016
    Cell Significance Index: 20.3600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.9369
    Cell Significance Index: 115.2000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.9022
    Cell Significance Index: 67.2400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.8009
    Cell Significance Index: 109.9900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.6733
    Cell Significance Index: 86.3100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.6712
    Cell Significance Index: 43.3000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.6599
    Cell Significance Index: 132.3900
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.5624
    Cell Significance Index: 4.4900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.4192
    Cell Significance Index: 185.3200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.3939
    Cell Significance Index: 50.8900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.3876
    Cell Significance Index: 10.5500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.3814
    Cell Significance Index: 10.0300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3645
    Cell Significance Index: 130.7300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3501
    Cell Significance Index: 66.6200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3347
    Cell Significance Index: 54.4400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3057
    Cell Significance Index: 60.6700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.2523
    Cell Significance Index: 43.0900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2420
    Cell Significance Index: 10.9700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1963
    Cell Significance Index: 19.4200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1793
    Cell Significance Index: 124.0000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.1143
    Cell Significance Index: 5.3700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1034
    Cell Significance Index: 2.9800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0832
    Cell Significance Index: 75.0800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.0770
    Cell Significance Index: 2.2600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0508
    Cell Significance Index: 3.5900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0317
    Cell Significance Index: 23.2400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0279
    Cell Significance Index: 0.9800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0198
    Cell Significance Index: 0.3400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.0120
    Cell Significance Index: 1.2300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0019
    Cell Significance Index: -0.0500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0068
    Cell Significance Index: -0.4300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0070
    Cell Significance Index: -5.3200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0128
    Cell Significance Index: -9.4500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0128
    Cell Significance Index: -24.1200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0250
    Cell Significance Index: -0.8700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0327
    Cell Significance Index: -60.3200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0350
    Cell Significance Index: -4.1300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0383
    Cell Significance Index: -23.9200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0383
    Cell Significance Index: -58.9800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0407
    Cell Significance Index: -22.9500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0445
    Cell Significance Index: -60.4900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0573
    Cell Significance Index: -36.4200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0656
    Cell Significance Index: -7.5200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0863
    Cell Significance Index: -18.1800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0935
    Cell Significance Index: -42.4400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1480
    Cell Significance Index: -4.7400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1745
    Cell Significance Index: -50.2000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1770
    Cell Significance Index: -4.7400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.2219
    Cell Significance Index: -6.2000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2314
    Cell Significance Index: -15.5600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2373
    Cell Significance Index: -14.5900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.2695
    Cell Significance Index: -5.7400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2775
    Cell Significance Index: -40.3500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2911
    Cell Significance Index: -33.9300
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.2911
    Cell Significance Index: -3.4700
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.3675
    Cell Significance Index: -41.9500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.4512
    Cell Significance Index: -9.7800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.4605
    Cell Significance Index: -9.6400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.4665
    Cell Significance Index: -48.5700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.5018
    Cell Significance Index: -28.1600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.5082
    Cell Significance Index: -39.0000
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.5539
    Cell Significance Index: -6.8700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.5585
    Cell Significance Index: -44.2300
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.5778
    Cell Significance Index: -7.4000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.6035
    Cell Significance Index: -10.1000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.6142
    Cell Significance Index: -18.0900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.6325
    Cell Significance Index: -18.0500
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.6743
    Cell Significance Index: -6.9800
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.7063
    Cell Significance Index: -6.7200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.7128
    Cell Significance Index: -43.7000
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.7418
    Cell Significance Index: -18.9500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.8198
    Cell Significance Index: -42.7000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.8598
    Cell Significance Index: -38.0300
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.8756
    Cell Significance Index: -20.2300
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.9216
    Cell Significance Index: -10.4700
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: -0.9248
    Cell Significance Index: -2.0900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.9707
    Cell Significance Index: -27.8300
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.9743
    Cell Significance Index: -7.5100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -1.0434
    Cell Significance Index: -39.5100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Accessory protein**: ATP6AP1 is a non-catalytic protein that associates with the V-ATPase complex, which is a hetero-oligomeric enzyme composed of subunits A, B, C, D, E, F, G, and I. 2. **Intracellular pH regulation**: The V-ATPase complex is responsible for pumping protons (H+) across cellular membranes, thereby regulating intracellular pH. ATP6AP1 is thought to modulate the activity of this enzyme. 3. **Iron homeostasis**: The V-ATPase complex is also involved in regulating iron uptake and transport. ATP6AP1 may play a role in modulating this process. 4. **Cell type-specific expression**: ATP6AP1 is significantly expressed in various cell types, including myeloid dendritic cells, extravillous trophoblasts, and kidney collecting duct intercalated cells. **Pathways and Functions** 1. **Intracellular pH regulation**: The V-ATPase complex is responsible for maintaining intracellular pH homeostasis by pumping protons across cellular membranes. 2. **Iron homeostasis**: The V-ATPase complex is involved in regulating iron uptake and transport, and ATP6AP1 may play a role in modulating this process. 3. **Cellular signaling**: The V-ATPase complex is involved in various cellular signaling pathways, including the regulation of insulin receptor recycling and the Rho GTPase cycle. 4. **Extracellular vesicle formation**: The V-ATPase complex is involved in the formation of extracellular vesicles, and ATP6AP1 may play a role in modulating this process. **Clinical Significance** 1. **Diseases associated with V-ATPase dysfunction**: Impairments in V-ATPase function have been implicated in various diseases, including osteoclast development disorders, kidney disease, and neurodegenerative disorders. 2. **Inflammation and immune responses**: The V-ATPase complex plays a role in regulating immune responses, and ATP6AP1 may influence this process. 3. **Cancer and metastasis**: The V-ATPase complex is involved in the regulation of cellular pH and iron homeostasis, and ATP6AP1 may play a role in modulating these processes in cancer cells. 4. **Neurological disorders**: The V-ATPase complex is involved in the regulation of intracellular pH and iron homeostasis, and ATP6AP1 may influence these processes in neurological disorders, such as Alzheimer's disease and Parkinson's disease. In conclusion, ATP6AP1 is a non-catalytic protein that associates with the V-ATPase complex, modulating its activity and influencing various cellular processes, including intracellular pH regulation, iron homeostasis, and cellular signaling. Further research is needed to fully understand the functions and clinical significance of ATP6AP1.

Genular Protein ID: 1590030885

Symbol: VAS1_HUMAN

Name: V-type proton ATPase subunit S1

UniProtKB Accession Codes:

Q15904 A6ZKI4 Q8NBT4 Q9H0C7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 4 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EMBL 10 EMDB 6 Ensembl 1 ExpressionAtlas 1 GO 27 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 6 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 4 RefSeq 2 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8733135

Title: Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci.

PubMed ID: 8733135

DOI: 10.1093/hmg/5.5.659

PubMed ID: 11230166

Title: Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.

PubMed ID: 11230166

DOI: 10.1101/gr.gr1547r

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16303743

Title: Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.

PubMed ID: 16303743

DOI: 10.1093/dnares/12.2.117

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8034313

Title: Isolation of expressed sequences encoded by the human Xq terminal portion using microclone probes generated by laser microdissection.

PubMed ID: 8034313

DOI: 10.1006/geno.1994.1194

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 26212330

Title: RNASEK Is a V-ATPase-Associated Factor Required for Endocytosis and the Replication of Rhinovirus, Influenza A Virus, and Dengue Virus.

PubMed ID: 26212330

DOI: 10.1016/j.celrep.2015.06.076

PubMed ID: 27231034

Title: ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.

PubMed ID: 27231034

DOI: 10.1038/ncomms11600

PubMed ID: 28296633

Title: The vacuolar-ATPase complex and assembly factors, TMEM199 and CCDC115, control HIF1alpha prolyl hydroxylation by regulating cellular iron levels.

PubMed ID: 28296633

DOI: 10.7554/elife.22693

PubMed ID: 29127204

Title: Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects.

PubMed ID: 29127204

DOI: 10.1084/jem.20170453

PubMed ID: 28728022

Title: Loss of TMEM106B ameliorates lysosomal and frontotemporal dementia-related phenotypes in progranulin-deficient mice.

PubMed ID: 28728022

DOI: 10.1016/j.neuron.2017.06.026

PubMed ID: 33065002

Title: Structures of a Complete Human V-ATPase Reveal Mechanisms of Its Assembly.

PubMed ID: 33065002

DOI: 10.1016/j.molcel.2020.09.029

Sequence Information:

  • Length: 470
  • Mass: 52026
  • Checksum: A71C7EF0E90D0652
  • Sequence:
    • MMAAMATARV RMGPRCAQAL WRMPWLPVFL SLAAAAAAAA AEQQVPLVLW SSDRDLWAPA 
ADTHEGHITS DLQLSTYLDP ALELGPRNVL LFLQDKLSIE DFTAYGGVFG NKQDSAFSNL 
ENALDLAPSS LVLPAVDWYA VSTLTTYLQE KLGASPLHVD LATLRELKLN ASLPALLLIR 
LPYTASSGLM APREVLTGND EVIGQVLSTL KSEDVPYTAA LTAVRPSRVA RDVAVVAGGL 
GRQLLQKQPV SPVIHPPVSY NDTAPRILFW AQNFSVAYKD QWEDLTPLTF GVQELNLTGS 
FWNDSFARLS LTYERLFGTT VTFKFILANR LYPVSARHWF TMERLEVHSN GSVAYFNASQ 
VTGPSIYSFH CEYVSSLSKK GSLLVARTQP SPWQMMLQDF QIQAFNVMGE QFSYASDCAS 
FFSPGIWMGL LTSLFMLFIF TYGLHMILSL KTMDRFDDHK GPTISLTQIV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.