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Atp2c1 Gene Detail
Summary
  • Symbol
    Atp2c1
  • Name
    ATPase, Ca++-sequestering
  • Synonyms
    1700121J11Rik, ATP2C1A, D930003G21Rik, MGC:58010, PMR1, SPCA
  • Feature Type
    protein coding gene
  • IDs
    MGI:1889008
    NCBI Gene: 235574
  • Gene Overview
    MyGene.info: ATP2C1
Location & Maps
more
  • Sequence Map
    Chr9:105403539-105527319 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      123781 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 56.61 cM, cytoband F1
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    ATP2C1, ATPase secretory pathway Ca2+ transporting 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ATP2C1, ATPase secretory pathway Ca2+ transporting 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ATP2C1A, BCPM, HHD, hSPCA1, PMR1, SPCA1
  • Links
    NCBI Gene ID: 27032
    neXtProt AC: NX_P98194

  • Chr Location
    3q22.1; chr3:130850483-131016712 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Atp2c1 mouse models; 1 with human ATP2C1 associations

Human Disease Mouse Models
       Benign Chronic Pemphigus; BCPM   OMIM: 169600 View 1 "NOT" model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    14 phenotypes from 1 allele in 1 genetic background
    4 images
    9 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    25
  • Gene trapped
    23
  • Targeted
    2
  • Incidental Mutations
Mice homozygous for a knock-out allele show embryonic growth retardation, failure of rostral neural tube closure, Golgi and endoplasmic reticulum stress, increased apoptosis, accumulation of intracellular lipid droplets and midgestational lethality. Agedheterozygotes develop squamous cell tumors.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000042223 VEGA Gene Model | MGI Sequence Detail 123781 C57BL/6J ±  kb
transcript OTTMUST00000110891 VEGA | MGI Sequence Detail 4665 Not Applicable  
polypeptide OTTMUSP00000061947 VEGA | MGI Sequence Detail 952 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1233 from dbSNP Build 142
Protein
Information
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  • UniProt
    16 Sequences
  • Protein Ontology
    PR:000004449 calcium-transporting ATPase type 2C member 1
  • EC
  • InterPro Domains
    IPR030336 Calcium-transporting ATPase type 2C member 1
    IPR006068 Cation-transporting P-type ATPase, C-terminal
    IPR004014 Cation-transporting P-type ATPase, N-terminal
    IPR023214 HAD-like domain
    IPR001757 P-type ATPase
    IPR008250 P-type ATPase, A domain
    IPR023299 P-type ATPase, cytoplasmic domain N
    IPR018303 P-type ATPase, phosphorylation site
    IPR006413 P-type ATPase, subfamily IIA, PMR1-type
    IPR023298 P-type ATPase, transmembrane domain
Molecular
Reagents
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  • All nucleic 19
    Genomic 1
    cDNA 15
    Primer pair 3

    Microarray probesets 6
Other
Accession IDs
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MGI:1923888, MGI:2143288, MGI:2444235
References
more
  • Summaries
    All 41
    Developmental Gene Expression 1
    Diseases 1
    Gene Ontology 7
    Phenotypes 9
  • Earliest
    J:64183 Shull GE, Gene knockout studies of Ca2+-transporting ATPases. Eur J Biochem. 2000 Sep;267(17):5284-90
  • Latest
    J:203715 Cross BM, et al., SPCA2 regulates Orai1 trafficking and store independent Ca2+ entry in a model of lactation. PLoS One. 2013;8(6):e67348

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory