Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Overlapping ATP2C1 and ASTE1 genes in human genome: implications for SPCA1 expression?

International journal of molecular sciences - 4 Jan 2013

Micaroni Massimo, Malquori Lorenzo

Abstract excerpt

The ATP2C1 gene encodes for the secretory pathway calcium (Ca2+)-ATPase pump (SPCA1), which localizes along the secretory pathway, mainly in the trans-Golgi. The loss of one ATP2C1 allele causes Hailey-Hailey disease in humans but not mice. Examining differences in genomic organization between mouse and human we speculate that the overlap between ATP2C1 and ASTE1 genes only in humans could explain this different...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alternative Splicing
Share to Calcium
Share to Calcium-Transporting ATPases

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genes, Overlapping

Share to Genome, Human

Share to Isoenzymes

Share to MicroRNAs

Share to Pemphigus, Benign Familial

Source

Open in PubMed Open full text

Identifiers

PMID: 23344038
DOI: 10.3390/ijms14010674
PMCID: PMC3565288

Genes

ASTE1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Overlapping ATP2C1 and ASTE1 genes in human genome: implications for SPCA1 expression?PMID 23344038Read ↗

Calcium-ATPases: Gene disorders and dysregulation in cancer.Semantic proximity Read ↗

ATP2C1 gene mutations in Hailey-Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking.Semantic proximity Read ↗

Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump.Semantic proximity Read ↗

The Plasma Membrane Calcium ATPases and Their Role as Major New Players in Human Disease.Semantic proximity Read ↗

Loss of the Atp2c1 secretory pathway Ca(2+)-ATPase (SPCA1) in mice causes Golgi stress, apoptosis, and midgestational death in homozygous embryos and squamous cell tumors in adult heterozygotes.Semantic proximity Read ↗

Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease.Semantic proximity Read ↗

Activity of the hSPCA1 Golgi Ca2+ pump is essential for Ca2+-mediated Ca2+ response and cell viability in Darier diseaseSemantic proximity Read ↗

Insulin-Regulated Actin Dynamics is Disrupted in a Human Keratinocyte Model of Hailey Hailey DiseaseSemantic proximity Read ↗

Darier Disease - A Multi-organ Condition?Semantic proximity Read ↗

Calcium pumps and keratinocytes: lessons from Darier's disease and Hailey-Hailey disease.Semantic proximity Read ↗

Hailey–Hailey Disease: Identification of Novel Mutations in ATP2C1 and Effect of Missense Mutation A528P on Protein Expression LevelsSemantic proximity Read ↗

The human ATP‐binding cassette (ABC) transporter superfamilySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.