Details for: ATP6V1A

Gene ID: 523

Symbol: ATP6V1A

Ensembl ID: ENSG00000114573

Description: ATPase H+ transporting V1 subunit A

Associated with

Cells (max top 100)

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

  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 2.95
    Marker Score: 4,891
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 2.44
    Marker Score: 1,286
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 2.24
    Marker Score: 2,375
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 2.17
    Marker Score: 5,472
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 2.16
    Marker Score: 5,788
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 1.97
    Marker Score: 4,850
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 1.96
    Marker Score: 1,046
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.93
    Marker Score: 8,913
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.89
    Marker Score: 7,302
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.88
    Marker Score: 7,886
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.86
    Marker Score: 70,598
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.84
    Marker Score: 113,124
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.84
    Marker Score: 67,758
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.82
    Marker Score: 36,260
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.82
    Marker Score: 18,800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.76
    Marker Score: 16,697
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.74
    Marker Score: 30,950
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.73
    Marker Score: 14,821
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.73
    Marker Score: 25,795
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.71
    Marker Score: 16,122
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.7
    Marker Score: 1,722
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.69
    Marker Score: 3,428
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.68
    Marker Score: 12,841
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 1.67
    Marker Score: 10,171
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.67
    Marker Score: 831
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.65
    Marker Score: 6,847
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.6
    Marker Score: 2,258
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 1.58
    Marker Score: 498
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 1.57
    Marker Score: 966
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.56
    Marker Score: 6,353
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.54
    Marker Score: 2,372
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 1.53
    Marker Score: 2,151
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.53
    Marker Score: 3,478
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.52
    Marker Score: 635
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 166,957
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.44
    Marker Score: 48,648
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.43
    Marker Score: 30,461
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 1.41
    Marker Score: 963
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 1.4
    Marker Score: 3,479
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 1.39
    Marker Score: 35,557
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.37
    Marker Score: 1,478
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 1.33
    Marker Score: 1,028
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 1.32
    Marker Score: 3,780
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 1.32
    Marker Score: 681
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 1.31
    Marker Score: 5,467
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.3
    Marker Score: 4,622
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.29
    Marker Score: 44,845
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 1.29
    Marker Score: 408
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.27
    Marker Score: 348
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 1.26
    Marker Score: 660
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 1.26
    Marker Score: 2,113
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.25
    Marker Score: 1,315
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.25
    Marker Score: 69,758
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.24
    Marker Score: 290
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 1.23
    Marker Score: 390
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.16
    Marker Score: 574
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.15
    Marker Score: 1,394
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 1.14
    Marker Score: 6,101
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 1.13
    Marker Score: 1,070
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.12
    Marker Score: 522
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.12
    Marker Score: 2,147
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 1.11
    Marker Score: 1,274
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.1
    Marker Score: 1,145
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.1
    Marker Score: 644
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.09
    Marker Score: 9,395
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.09
    Marker Score: 634
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.08
    Marker Score: 597
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 1.08
    Marker Score: 5,648
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.07
    Marker Score: 1,900
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 1.07
    Marker Score: 360
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 1.07
    Marker Score: 754
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 1.07
    Marker Score: 3,576
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.06
    Marker Score: 2,330
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.06
    Marker Score: 1,191
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.04
    Marker Score: 2,488
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1.03
    Marker Score: 417
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 1.03
    Marker Score: 4,292
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 1.03
    Marker Score: 687
  • Cell Name: alternatively activated macrophage (CL0000890)
    Fold Change: 1.02
    Marker Score: 426
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.02
    Marker Score: 2,401
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 1.02
    Marker Score: 6,635
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 1.01
    Marker Score: 847
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 1.01
    Marker Score: 1,011
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.01
    Marker Score: 295
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1
    Marker Score: 317
  • Cell Name: granule cell (CL0000120)
    Fold Change: 1
    Marker Score: 7,533
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,647
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.99
    Marker Score: 862
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47,874
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.99
    Marker Score: 1,097
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.99
    Marker Score: 910
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.99
    Marker Score: 368
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,380
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.98
    Marker Score: 15,299
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 0.97
    Marker Score: 501
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.97
    Marker Score: 3,330
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.97
    Marker Score: 3,579
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.96
    Marker Score: 8,369
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.96
    Marker Score: 310
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.96
    Marker Score: 639

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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. **Proton Transporting V-Type ATPase**: The ATP6V1A gene encodes for a subunit of the V-type proton ATPase, a type of proton pump that transports protons across cellular membranes. 2. **Cellular Expression**: The gene is expressed in various cell types, including kidney collecting duct intercalated cells, renal alpha-intercalated cells, and inhibitory interneurons. 3. **Signaling and Regulation**: The V-type proton ATPase is involved in signaling pathways, including insulin receptor signaling and receptor tyrosine kinase signaling. 4. **Iron Homeostasis**: The gene is also involved in regulating intracellular iron ion homeostasis. **Pathways and Functions** 1. **Acidification**: The V-type proton ATPase plays a crucial role in maintaining cellular acidification by transporting protons across cellular membranes. 2. **Signaling**: The gene is involved in signaling pathways, including insulin receptor signaling and receptor tyrosine kinase signaling. 3. **Iron Homeostasis**: The ATP6V1A gene is involved in regulating intracellular iron ion homeostasis by controlling the uptake and transport of iron. 4. **Regulation of Macroautophagy**: The V-type proton ATPase is involved in regulating macroautophagy, a cellular process that involves the degradation and recycling of cellular components. 5. **Endosomal Lumen Acidification**: The gene is involved in regulating endosomal lumen acidification, a process that involves the transport of protons across the endosomal membrane. **Clinical Significance** 1. **Kidney Disease**: Mutations in the ATP6V1A gene have been associated with kidney disease, including autosomal recessive polycystic kidney disease (ARPKD). 2. **Neurological Disorders**: The gene has also been implicated in neurological disorders, including epilepsy and autism spectrum disorder. 3. **Cancer**: The V-type proton ATPase has been shown to play a role in cancer progression, including the regulation of cell growth and survival. 4. **Iron-Related Disorders**: Mutations in the ATP6V1A gene have been associated with iron-related disorders, including hemochromatosis and sideroblastic anemia. In conclusion, the ATP6V1A gene plays a crucial role in maintaining cellular homeostasis by regulating proton transport, signaling, and iron homeostasis. Its dysfunction has been implicated in various diseases, including kidney disease, neurological disorders, and cancer. Further research is needed to fully understand the role of this gene in human health and disease.

Genular Protein ID: 3942827416

Symbol: VATA_HUMAN

Name: V-type proton ATPase catalytic subunit A

UniProtKB Accession Codes:

P38606 B2RBR8 B7Z1R5 D3DN75 Q53YD9 Q96DY6 Q9UHY3

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 3 CORUM 1 CTD 1 ChEBI 6 ChEMBL 1 ChiTaRS 1 ComplexPortal 4 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 5 EC 1 EMBL 10 EMDB 6 EPD 1 Ensembl 5 ExpressionAtlas 1 GO 32 Gene3D 3 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HAMAP 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 10 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 13 PDBsum 6 PIR 1 PRIDE 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 5 RefSeq 1 Rhea 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8463241

Title: Identification of two subunit A isoforms of the vacuolar H(+)-ATPase in human osteoclastoma.

PubMed ID: 8463241

DOI: 10.1016/s0021-9258(18)53147-1

PubMed ID: 10931946

Title: Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning.

PubMed ID: 10931946

DOI: 10.1073/pnas.160270997

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

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: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23035048

Title: Vacuolar-type H+-ATPase V1A subunit is a molecular partner of Wolfram syndrome 1 (WFS1) protein, which regulates its expression and stability.

PubMed ID: 23035048

DOI: 10.1093/hmg/dds400

PubMed ID: 23186163

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

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 28065471

Title: Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa.

PubMed ID: 28065471

DOI: 10.1016/j.ajhg.2016.12.010

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: 29668857

Title: De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.

PubMed ID: 29668857

DOI: 10.1093/brain/awy092

PubMed ID: 31786107

Title: Heat shock factor 4 regulates lysosome activity by modulating the alphaB-crystallin-ATP6V1A-mTOR complex in ocular lens.

PubMed ID: 31786107

DOI: 10.1016/j.bbagen.2019.129496

PubMed ID: 33208464

Title: The ATPase ATP6V1A facilitates rabies virus replication by promoting virion uncoating and interacting with the viral matrix protein.

PubMed ID: 33208464

DOI: 10.1074/jbc.ra120.014190

PubMed ID: 32001091

Title: Structure and Roles of V-type ATPases.

PubMed ID: 32001091

DOI: 10.1016/j.tibs.2019.12.007

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: 617
  • Mass: 68304
  • Checksum: DB409A8731D772CB
  • Sequence:
    • MDFSKLPKIL DEDKESTFGY VHGVSGPVVT ACDMAGAAMY ELVRVGHSEL VGEIIRLEGD 
MATIQVYEET SGVSVGDPVL RTGKPLSVEL GPGIMGAIFD GIQRPLSDIS SQTQSIYIPR 
GVNVSALSRD IKWDFTPCKN LRVGSHITGG DIYGIVSENS LIKHKIMLPP RNRGTVTYIA 
PPGNYDTSDV VLELEFEGVK EKFTMVQVWP VRQVRPVTEK LPANHPLLTG QRVLDALFPC 
VQGGTTAIPG AFGCGKTVIS QSLSKYSNSD VIIYVGCGER GNEMSEVLRD FPELTMEVDG 
KVESIMKRTA LVANTSNMPV AAREASIYTG ITLSEYFRDM GYHVSMMADS TSRWAEALRE 
ISGRLAEMPA DSGYPAYLGA RLASFYERAG RVKCLGNPER EGSVSIVGAV SPPGGDFSDP 
VTSATLGIVQ VFWGLDKKLA QRKHFPSVNW LISYSKYMRA LDEYYDKHFT EFVPLRTKAK 
EILQEEEDLA EIVQLVGKAS LAETDKITLE VAKLIKDDFL QQNGYTPYDR FCPFYKTVGM 
LSNMIAFYDM ARRAVETTAQ SDNKITWSII REHMGDILYK LSSMKFKDPL KDGEAKIKSD 
YAQLLEDMQN AFRSLED

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.