• Gene id: 537

Gene Summary

• Gene Symbol: ATP6AP1   Gene   UCSC   Ensembl
• Aliases: 16A, ATP6IP1, ATP6S1, Ac45, CF2, VATPS1, XAP-3, XAP3
• Gene name: ATPase H+ transporting accessory protein 1
• Alternate names: V-type proton ATPase subunit S1, ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1, ATPase, H+ transporting, lysosomal accessory protein 1, ATPase, H+ transporting, lysosomal interacting protein 1, H-ATPase subunit, V-ATPase Ac45 subunit, V-A,
• Gene location: Xq28 (154428668: 154436515)     Exons: 11     NC_000023.11
• Gene summary(Entrez): This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase d
• OMIM: 606014

SNPs

rs35576928

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11281137C>A
NC_000016.10   g.11281137C>G
NC_000016.9   g.11374994C>A
NC_000016.9   g.11374994C>G
NM_002761.3   c.102G>T
NM_002761.3   c.102G>C
NM_002761.2   c.102G>T
NM_002761.2   c.102G>C
NP_002752.1   p.Arg34Ser
NP_002752.1   p.Arg34Ser|SEQ=[C/A/G]|GE

rs28362491

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000004.12   g.102500998_102501001ATTG[1]
NC_000004.11   g.103422155_103422158ATTG[1]
NG_050628.1   g.4670_4673ATTG[1]|SEQ=[ATTG/-]|GENE=NFKB1
LOC105377621   105377621

rs4997052

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31356367T>A
NC_000006.12   g.31356367T>G
NC_000006.11   g.31324144T>A
NC_000006.11   g.31324144T>G
NG_023187.1   g.5846A>T
NG_023187.1   g.5846A>C
NM_005514.8   c.419A>T
NM_005514.8   c.419A>C
NM_005514.7   c.419A>T
NM_005514.7   c.419A>C
NM_005514.6   c.

rs2301365

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11281429G>T
NC_000016.9   g.11375286G>T|SEQ=[G/T]|GENE=PRM1
LOC105371082   105371082

rs2231599

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86574546A>G
NC_000001.10   g.87040229A>G
NM_012128.4   c.1474A>G
NM_012128.3   c.1474A>G
XM_011541015.2   c.1321A>G
NR_024602.1   n.1409A>G
NR_024602.2   n.1407A>G
NP_036260.2   p.Ser492Gly
XP_011539317.1   p.Ser441Gly|SEQ=[A/G]|GENE=CLCA4
CLCA4  

rs2070923

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11275998G>C
NC_000016.10   g.11275998G>T
NC_000016.9   g.11369855G>C
NC_000016.9   g.11369855G>T|SEQ=[G/C/T]|GENE=PRM2
LOC105371082   105371082

rs1646022

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11276073C>G
NC_000016.10   g.11276073C>T
NC_000016.9   g.11369930C>G
NC_000016.9   g.11369930C>T
NM_001286359.1   c.298G>C
NM_001286359.1   c.298G>A
NM_001286359.2   c.298G>C
NM_001286359.2   c.298G>A
NP_001273288.1   p.Ala100Pro
NP_001273288.1   p.Ala1

rs737008

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11281009G>A
NC_000016.10   g.11281009G>T
NC_000016.9   g.11374866G>A
NC_000016.9   g.11374866G>T
NM_002761.3   c.139C>T
NM_002761.3   c.139C>A
NM_002761.2   c.139C>T
NM_002761.2   c.139C>A
NP_002752.1   p.Arg47Ter|SEQ=[G/A/T]|GENE=PRM1
LOC1053710  

rs7354779

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.44250887T>C
NC_000021.8   g.45670770T>C
NM_013369.3   c.832A>G
NM_013369.4   c.832A>G
NM_175867.2   c.832A>G
NM_175867.3   c.832A>G
NR_135514.1   n.75T>C
NP_037501.2   p.Arg278Gly
NP_787063.1   p.Arg278Gly|SEQ=[T/C]|GENE=DNMT3L
DNMT3L-AS1   1053728

rs7811653

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.46362671C>A
NC_000007.13   g.46402269C>A|SEQ=[C/A]

rs148454792

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.30233737C>A
NC_000011.9   g.30255284C>A
NG_008144.1   g.7722C>A
NM_000510.3   c.327C>A
NM_000510.2   c.327C>A
NM_001018080.2   c.327C>A
NM_001018080.1   c.327C>A
NP_000501.1   p.Ser109Arg
NP_001018090.1   p.Ser109Arg|SEQ=[C/A]|GENE=FSHB
LOC105376  

rs6170

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.30231961G>T
NC_000011.9   g.30253508G>T
NG_008144.1   g.5946G>T
NM_000510.3   c.59G>T
NM_000510.2   c.59G>T
NM_001018080.2   c.59G>T
NM_001018080.1   c.59G>T
NP_000501.1   p.Ser20Ile
NP_001018090.1   p.Ser20Ile|SEQ=[G/T]|GENE=FSHB
LOC105376607   10

rs759981524

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86579956A>C
NC_000001.11   g.86579956A>G
NC_000001.11   g.86579956A>T
NC_000001.10   g.87045639A>C
NC_000001.10   g.87045639A>G
NC_000001.10   g.87045639A>T
NM_012128.4   c.2371A>C
NM_012128.4   c.2371A>G
NM_012128.4   c.2371A>T
NM_012128.3   c.2371A>C
  

rs757773924

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86578055C>G
NC_000001.11   g.86578055C>T
NC_000001.10   g.87043738C>G
NC_000001.10   g.87043738C>T
NM_012128.4   c.2105C>G
NM_012128.4   c.2105C>T
NM_012128.3   c.2105C>G
NM_012128.3   c.2105C>T
XM_011541015.2   c.1952C>G
XM_011541015.2   c.1952C>T
NR_0  

rs1399645

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.139390262C>G
NC_000002.12   g.139390262C>T
NC_000002.11   g.140147832C>G
NC_000002.11   g.140147832C>T|SEQ=[C/G/T]|GENE=LOC105373644

rs2063802

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.139384878G>A
NC_000002.12   g.139384878G>C
NC_000002.11   g.140142448G>A
NC_000002.11   g.140142448G>C|SEQ=[G/A/C]|GENE=LOC105373644

rs4541736

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.40722258C>A
NC_000006.12   g.40722258C>G
NC_000006.12   g.40722258C>T
NC_000006.11   g.40689997C>A
NC_000006.11   g.40689997C>G
NC_000006.11   g.40689997C>T|SEQ=[C/A/G/T]|GENE=LOC105375052

Protein Summary

• Protein general information: Q15904  
  • Name: V type proton ATPase subunit S1 (V ATPase subunit S1) (Protein XAP 3) (V ATPase Ac45 subunit) (V ATPase S1 accessory protein) (Vacuolar proton pump subunit S1)
  • Length: 470  
  • Mass: 52026
  • Tissue specificity: widely expressed, with highest levels in brain and lowest in liver and duodenum. {ECO
• Sequence:

  MMAAMATARVRMGPRCAQALWRMPWLPVFLSLAAAAAAAAAEQQVPLVLWSSDRDLWAPAADTHEGHITSDLQLS
  TYLDPALELGPRNVLLFLQDKLSIEDFTAYGGVFGNKQDSAFSNLENALDLAPSSLVLPAVDWYAVSTLTTYLQE
  KLGASPLHVDLATLRELKLNASLPALLLIRLPYTASSGLMAPREVLTGNDEVIGQVLSTLKSEDVPYTAALTAVR
  PSRVARDVAVVAGGLGRQLLQKQPVSPVIHPPVSYNDTAPRILFWAQNFSVAYKDQWEDLTPLTFGVQELNLTGS
  FWNDSFARLSLTYERLFGTTVTFKFILANRLYPVSARHWFTMERLEVHSNGSVAYFNASQVTGPSIYSFHCEYVS
  SLSKKGSLLVARTQPSPWQMMLQDFQIQAFNVMGEQFSYASDCASFFSPGIWMGLLTSLFMLFIFTYGLHMILSL
  KTMDRFDDHKGPTISLTQIV

• Structural information:
  • Interpro: IPR008388  
  • STRING: ENSP00000358777
• Other Databases: GeneCards:  ATP6AP1  Malacards:  ATP6AP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033181	plasma membrane proton-transporting V-type ATPase complex	IBA	cellular component
GO:0030641	regulation of cellular pH	IBA	biological process
GO:0006879	cellular iron ion homeostasis	IMP	biological process
GO:0036295	cellular response to increased oxygen levels	IMP	biological process
GO:0033180	proton-transporting V-type ATPase, V1 domain	IEA	cellular component
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:1902600	proton transmembrane transport	TAS	biological process
GO:0016469	proton-transporting two-sector ATPase complex	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0008286	insulin receptor signaling pathway	TAS	biological process
GO:0033572	transferrin transport	TAS	biological process
GO:0045780	positive regulation of bone resorption	IEA	biological process
GO:0045669	positive regulation of osteoblast differentiation	IEA	biological process
GO:0017137	Rab GTPase binding	IEA	molecular function
GO:2001206	positive regulation of osteoclast development	IEA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0051656	establishment of organelle localization	IEA	biological process
GO:0045921	positive regulation of exocytosis	IEA	biological process
GO:0045851	pH reduction	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	IEA	cellular component
GO:2001206	positive regulation of osteoclast development	ISS	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	ISS	biological process
GO:0051656	establishment of organelle localization	ISS	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0045780	positive regulation of bone resorption	ISS	biological process
GO:0045669	positive regulation of osteoblast differentiation	ISS	biological process
GO:0017137	Rab GTPase binding	ISS	molecular function
GO:0045921	positive regulation of exocytosis	ISS	biological process
GO:0045851	pH reduction	ISS	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05165	Human papillomavirus infection
hsa00190	Oxidative phosphorylation
hsa05152	Tuberculosis
hsa04145	Phagosome
hsa04142	Lysosome
hsa05161	Hepatitis B
hsa05323	Rheumatoid arthritis
hsa05120	Epithelial cell signaling in Helicobacter pylori infection
hsa05110	Vibrio cholerae infection

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881