Details for: ATP6V1A

Gene ID: 523

Symbol: ATP6V1A

Ensembl ID: ENSG00000114573

Description: ATPase H+ transporting V1 subunit A

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: 287.2476
    Cell Significance Index: -44.6800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 180.9627
    Cell Significance Index: -45.9000
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 109.6984
    Cell Significance Index: -45.1900
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 104.9939
    Cell Significance Index: -49.5700
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 104.3182
    Cell Significance Index: -42.3800
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 90.0492
    Cell Significance Index: -46.3200
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 73.9171
    Cell Significance Index: -49.6000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 38.9552
    Cell Significance Index: -48.0300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 17.5410
    Cell Significance Index: -46.9900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 12.4745
    Cell Significance Index: -49.2300
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 9.2251
    Cell Significance Index: -20.1900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 6.2241
    Cell Significance Index: 1790.8500
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 4.7375
    Cell Significance Index: 18.1400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 2.9881
    Cell Significance Index: 348.2300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.3621
    Cell Significance Index: 473.8300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.7441
    Cell Significance Index: 625.5800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 1.4679
    Cell Significance Index: 98.7000
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 1.3488
    Cell Significance Index: 38.4900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.2482
    Cell Significance Index: 17.0300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.2014
    Cell Significance Index: 130.6800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.0315
    Cell Significance Index: 27.6400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.9286
    Cell Significance Index: 184.2900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.9175
    Cell Significance Index: 48.1700
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.8151
    Cell Significance Index: 10.1100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.8005
    Cell Significance Index: 437.1600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7414
    Cell Significance Index: 120.5900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.7232
    Cell Significance Index: 130.3800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.6771
    Cell Significance Index: 25.6400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.6752
    Cell Significance Index: 29.8700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.6724
    Cell Significance Index: 465.0800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.6592
    Cell Significance Index: 125.4500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.6322
    Cell Significance Index: 77.7400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.5797
    Cell Significance Index: 27.0300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.5493
    Cell Significance Index: 33.7600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.5241
    Cell Significance Index: 40.2200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2812
    Cell Significance Index: 124.3400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.2727
    Cell Significance Index: 513.4300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.2569
    Cell Significance Index: 16.1900
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.2316
    Cell Significance Index: 4.2800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2143
    Cell Significance Index: 193.5000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2018
    Cell Significance Index: 19.9600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1823
    Cell Significance Index: 3.9500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1511
    Cell Significance Index: 2.5900
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.1489
    Cell Significance Index: 3.2600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1151
    Cell Significance Index: 3.3200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1144
    Cell Significance Index: 15.7100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.1074
    Cell Significance Index: 6.0300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0986
    Cell Significance Index: 16.8400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0773
    Cell Significance Index: 56.6500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0646
    Cell Significance Index: 7.6200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0497
    Cell Significance Index: 31.5600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0428
    Cell Significance Index: 19.4300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0340
    Cell Significance Index: 0.9500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0332
    Cell Significance Index: 45.1600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0155
    Cell Significance Index: 23.8100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0130
    Cell Significance Index: 23.9200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0013
    Cell Significance Index: 0.0700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0079
    Cell Significance Index: -0.2100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0111
    Cell Significance Index: -8.2500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0148
    Cell Significance Index: -9.2700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0195
    Cell Significance Index: -0.6900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0267
    Cell Significance Index: -20.1800
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.0275
    Cell Significance Index: -0.3000
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0363
    Cell Significance Index: -0.8700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0400
    Cell Significance Index: -5.8200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0657
    Cell Significance Index: -37.0500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0863
    Cell Significance Index: -8.8200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1233
    Cell Significance Index: -25.9700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1287
    Cell Significance Index: -16.5000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1302
    Cell Significance Index: -16.8300
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1859
    Cell Significance Index: -21.2200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1902
    Cell Significance Index: -4.8900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1938
    Cell Significance Index: -20.1800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1955
    Cell Significance Index: -9.1900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.2072
    Cell Significance Index: -9.3900
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.2215
    Cell Significance Index: -2.6400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2323
    Cell Significance Index: -16.4300
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.2439
    Cell Significance Index: -1.8800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2447
    Cell Significance Index: -18.2400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2681
    Cell Significance Index: -30.7200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.3087
    Cell Significance Index: -19.9200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3091
    Cell Significance Index: -24.4800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.3400
    Cell Significance Index: -7.2400
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.3478
    Cell Significance Index: -5.5800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.3965
    Cell Significance Index: -8.4800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.4437
    Cell Significance Index: -12.7200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.4855
    Cell Significance Index: -15.5500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.4975
    Cell Significance Index: -10.3200
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.5053
    Cell Significance Index: -6.7400
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -0.5765
    Cell Significance Index: -7.7800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6152
    Cell Significance Index: -37.7200
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.6276
    Cell Significance Index: -13.3200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.7640
    Cell Significance Index: -7.0400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.7792
    Cell Significance Index: -25.5100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.7817
    Cell Significance Index: -24.9000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.7925
    Cell Significance Index: -41.2800
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.8452
    Cell Significance Index: -10.5400
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.8475
    Cell Significance Index: -19.5800
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.8568
    Cell Significance Index: -16.9400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.8596
    Cell Significance Index: -29.8700

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. **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:

Database IDs:

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.