Entity Details

Primary name VAS1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ15904
EntryNameVAS1_HUMAN
FullNameV-type proton ATPase subunit S1
TaxID9606
Evidenceevidence at protein level
Length470
SequenceStatuscomplete
DateCreated2001-01-11
DateModified2021-06-02

Ontological Relatives

GenesATP6AP1

GO terms

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GOName
GO:0005524 ATP binding
GO:0005789 endoplasmic reticulum membrane
GO:0006879 cellular iron ion homeostasis
GO:0008286 insulin receptor signaling pathway
GO:0010008 endosome membrane
GO:0016021 integral component of membrane
GO:0016469 proton-transporting two-sector ATPase complex
GO:0030641 regulation of cellular pH
GO:0031267 small GTPase binding
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane
GO:0033180 proton-transporting V-type ATPase, V1 domain
GO:0033181 plasma membrane proton-transporting V-type ATPase complex
GO:0033572 transferrin transport
GO:0034220 ion transmembrane transport
GO:0036295 cellular response to increased oxygen levels
GO:0045669 positive regulation of osteoblast differentiation
GO:0045780 positive regulation of bone resorption
GO:0045851 pH reduction
GO:0045921 positive regulation of exocytosis
GO:0051656 establishment of organelle localization
GO:0070062 extracellular exosome
GO:0070374 positive regulation of ERK1 and ERK2 cascade
GO:1902600 proton transmembrane transport
GO:2001206 positive regulation of osteoclast development

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane
Endoplasmic reticulum-Golgi intermediate compartment membrane

Domains

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DomainNameCategoryType
IPR008388 ATPase, V1 complex, subunit S1FamilyFamily

Diseases

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Disease IDSourceNameDescription
300972 OMIMImmunodeficiency 47 (IMD47)A complex immunodeficiency syndrome characterized by hypogammaglobulinemia, recurrent bacterial infections, defective glycosylation of serum proteins, and liver disease with neonatal jaundice and hepatosplenomegaly. Some patients may also have neurologic features, including seizures, mild intellectual disability, and behavioral abnormalities. Inheritance is X-linked recessive. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB01133 Tiludronic acidDrugbanksmall molecule