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ATPase, H+ TRANSPORTING, LYSOSOMAL, 31-KD, V1 SUBUNIT E, ISOFORM 1; ATP6V1E2

ATPase, H+ TRANSPORTING, LYSOSOMAL, 31-KD, V1 SUBUNIT E, ISOFORM 1; ATP6V1E2

Alternative titles; symbolsVACUOLAR-TYPE PROTON-TRANSLOCATING ATPase SUBUNIT E1; ATP6E1; E1HGNC Approved Gene Symbol: ATP6V1E2Cytogenetic location: 2p21 Geno...

Alternative titles; symbols

  • VACUOLAR-TYPE PROTON-TRANSLOCATING ATPase SUBUNIT E1; ATP6E1; E1

HGNC Approved Gene Symbol: ATP6V1E2

Cytogenetic location: 2p21 Genomic coordinates (GRCh38): 2:46,511,846-46,542,576 (from NCBI)

▼ Description
Vacuolar H(+)-ATPases (V-ATPases) are multisubunit ATP-dependent proton pumps that acidify intracellular organelles, such as lysosomes, or extracellular space, such as that of osteoclasts. ATP6V1E2 is a subunit of a sperm-specific V-ATPase that is expressed in acidic secretory acrosomes essential for fertilization (Sun-Wada et al., 2002).

▼ Cloning and Expression
Sun-Wada et al. (2002) cloned mouse Atp6v1e2, which they called E1. The deduced 226-amino acid protein shares approximately 70% identity with mouse E2 (ATP6V1E1; 108746). Northern blot analysis detected a 1.2-kb E1 transcript in adult mouse testis only, in contrast with ubiquitous expression of E2. Western blot analysis showed E1 at an apparent molecular mass of 32 kD in testis, but not in other mouse tissues examined. E1 expression began about 3 weeks after birth, increased gradually, and plateaued at 8 weeks. In situ hybridization and immunohistochemical analysis showed E1 expression in proacrosomal granules in spermatocytes and acrosomes in developing spermatids and mature sperm. Immunoelectron microscopy detected E1 in outer and inner acrosomal membranes.

Using yeast V-ATPase subunit Vma4 to query an EST database, followed by PCR of an adult testis cDNA library, Imai-Senga et al. (2002) cloned human ATP6V1E2, which they called ATP6E1. The deduced 226-amino acid protein shares over 76.9% identity with ATP6E2. Northern blot analysis of 23 human tissues detected ATP6E1 transcripts of 1.1 and 2.2 kb in testis only.

▼ Gene Function
Sun-Wada et al. (2002) found that mouse E1 and E2 complemented a null mutation of yeast Vma4, indicating that E1 and E2 are bona fide V-ATPase subunits.

Imai-Senga et al. (2002) found that human E1 and E2 complemented mutation of yeast Vma4.

▼ Gene Structure
Imai-Senga et al. (2002) determined that the ATP6V1E2 gene has 2 exons. Exon 1 is noncoding and has 2 transcription initiation sites. The upstream region is GC rich, but it lacks a typical TATA sequence.

▼ Mapping
By genomic sequence analysis, Imai-Senga et al. (2002) mapped the ATP6V1E2 gene to chromosome 2p21-p16.

Hartz (2017) mapped the ATP6V1E2 gene to chromosome 2p21 based on an alignment of the ATP6V1E2 sequence (GenBank BC008981) with the genomic sequence (GRCh38).

Sun-Wada et al. (2002) mapped the mouse Atp6v1e2 gene to a region of chromosome 17 that shares homology of synteny with human chromosome 2p21-p16.

Tags: 2p21