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Atp2a1 Gene Detail
Summary
  • Symbol
    Atp2a1
  • Name
    ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
  • Synonyms
    SERCA1
  • Feature Type
    protein coding gene
  • IDs
    MGI:105058
    NCBI Gene: 11937
  • Alliance
    gene page
  • Transcription Start Sites
    55 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:126045032-126062245 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 69.04 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    431 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_105058
 protein coding gene Chr7:126045030-126062280 (-)
129S1/SvImJ MGP_129S1SvImJ_G0032980
 protein coding gene Chr7:130719943-130737937 (-)
A/J MGP_AJ_G0032963
 protein coding gene Chr7:127265605-127283706 (-)
AKR/J MGP_AKRJ_G0032895
 protein coding gene Chr7:130485612-130503509 (-)
BALB/cJ MGP_BALBcJ_G0032968
 protein coding gene Chr7:126922681-126940553 (-)
C3H/HeJ MGP_C3HHeJ_G0032678
 protein coding gene Chr7:130411125-130429076 (-)
C57BL/6NJ MGP_C57BL6NJ_G0033474
 protein coding gene Chr7:135809110-135827212 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030446
 protein coding gene Chr7:128461015-128478446 (-)
CAST/EiJ MGP_CASTEiJ_G0032006
 protein coding gene Chr7:122198723-122218033 (-)
CBA/J MGP_CBAJ_G0032651
 protein coding gene Chr7:140387614-140405550 (-)
DBA/2J MGP_DBA2J_G0032803
 protein coding gene Chr7:125238662-125256678 (-)
FVB/NJ MGP_FVBNJ_G0032756
 protein coding gene Chr7:125090260-125108362 (-)
LP/J MGP_LPJ_G0032897
 protein coding gene Chr7:132185976-132204094 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032788
 protein coding gene Chr7:141571480-141589424 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0033494
 protein coding gene Chr7:129503084-129521188 (-)
PWK/PhJ MGP_PWKPhJ_G0031714
 protein coding gene Chr7:118224930-118243027 (-)
SPRET/EiJ MGP_SPRETEiJ_G0031560
 protein coding gene Chr7:116323532-116341515 (-)
WSB/EiJ MGP_WSBEiJ_G0032119
 protein coding gene Chr7:130466716-130484714 (-)



Homology
more
  • Human Ortholog
    ATP2A1, ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ATP2A1, ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
  • Synonyms
    ATP2A, SERCA1
  • Links
    NCBI Gene ID: 487
    neXtProt AC: NX_O14983
    UniProt: O14983

  • Chr Location
    16p11.2; chr16:28878405-28904466 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human ATP2A1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    10 phenotypes from 2 alleles in 2 genetic backgrounds
    3 images
    8 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.
Homozygous mutation of this gene results in perinatal lethality. Mutant neonates display respiratory distress, progressive cyanosis, and die within 30 minutes-2 hours after birth. Lung tissues and the diaphragm muscle show aberrant morphology.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    75
  • GO References
    13
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    891
  • Tissues
    44
  • cDNA Data
    79
  • Literature Summary
    37
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 11937 NCBI Gene Model | MGI Sequence Detail 17214 C57BL/6J ±  kb
    transcript NM_007504 RefSeq | MGI Sequence Detail 3486 FVB/N  
    polypeptide Q8R429 UniProt | EBI | MGI Sequence Detail 994 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 89
      cDNA 79
      Primer pair 10

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-32097
    References
    more
    • Summaries
      All 90
      Developmental Gene Expression 37
      Gene Ontology 13
      Phenotypes 8
    • Earliest
      J:19385 Schleef M, et al., Subtractive cDNA cloning as a tool to analyse secondary effects of a muscle disease. Characterization of affected genes in the myotonic ADR mouse. Neuromuscul Disord. 1994 May;4(3):205-17
    • Latest
      J:357928 Piasecka A, et al., MBNL splicing factors regulate the microtranscriptome of skeletal muscles. Nucleic Acids Res. 2024 Oct 28;52(19):12055-12073
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory