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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
  • Gene Overview
    MyGene.info: ATP2A1
  • Alliance
  • Transcription Start Sites
    25 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:126445860-126463103 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 69.04 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    112 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_105058
protein coding gene Chr7:126445858-126463108 (-)
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
    9
  • Human Ortholog
    ATP2A1, ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ATP2A, SERCA1
  • Links
    NCBI Gene ID: 487
    neXtProt AC: NX_O14983
    UniProt: O14983

  • Chr Location
    16p11.2; chr16:28878488-28904509 (+)  GRCh38.p7

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
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  • Phenotype Summary
    10 phenotypes from 2 alleles in 2 genetic backgrounds
    3 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
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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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 11937 NCBI Gene Model | MGI Sequence Detail 17244 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 80
      cDNA 79
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-32097
    References
    more
    • Summaries
      All 74
      Developmental Gene Expression 27
      Gene Ontology 10
      Phenotypes 9
    • 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:251389 Zakariyah AF, et al., Congenital heart defect causing mutation in Nkx2.5 displays in vivo functional deficit. J Mol Cell Cardiol. 2017 Apr;105:89-98

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory