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    Atp2c1 ATPase, Ca++-sequestering [ Mus musculus (house mouse) ]

    Gene ID: 235574, updated on 18-Sep-2024

    Summary

    Official Symbol
    Atp2c1provided by MGI
    Official Full Name
    ATPase, Ca++-sequesteringprovided by MGI
    Primary source
    MGI:MGI:1889008
    See related
    Ensembl:ENSMUSG00000032570 AllianceGenome:MGI:1889008
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    HHD; BCPM; SPCA; pmr1; SPCA1; ATP2C1A; 1700121J11Rik; D930003G21Rik
    Summary
    Predicted to enable ATP binding activity; ATPase-coupled cation transmembrane transporter activity; and metal ion binding activity. Involved in Golgi calcium ion homeostasis and positive regulation of Golgi to plasma membrane protein transport. Located in Golgi cisterna membrane and cis-Golgi network membrane. Is expressed in several structures, including gut; heart; liver; lung; and mammary gland. Human ortholog(s) of this gene implicated in Hailey-Hailey disease. Orthologous to human ATP2C1 (ATPase secretory pathway Ca2+ transporting 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in CNS E18 (RPKM 19.7), frontal lobe adult (RPKM 16.1) and 28 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Atp2c1 in Genome Data Viewer
    Location:
    9 F1; 9 56.61 cM
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (105288561..105398456, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (105411362..105521257, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene nudix hydrolase 16 like 2 Neighboring gene NIMA (never in mitosis gene a)-related expressed kinase 11 Neighboring gene STARR-positive B cell enhancer ABC_E895 Neighboring gene STARR-positive B cell enhancer ABC_E3856 Neighboring gene STARR-positive B cell enhancer ABC_E5100 Neighboring gene asteroid homolog 1 Neighboring gene STARR-positive B cell enhancer mm9_chr9:105398187-105398487 Neighboring gene predicted gene, 40564 Neighboring gene STARR-seq mESC enhancer starr_25124 Neighboring gene STARR-seq mESC enhancer starr_25126 Neighboring gene ubiquinol-cytochrome c reductase complex assembly factor 2 pseudogene Neighboring gene predicted gene 5621

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC58010

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables ATP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables P-type calcium transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables P-type calcium transporter activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables P-type calcium transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables P-type calcium transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables P-type manganese transporter activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables P-type manganese transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables calcium ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables calcium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables manganese ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables manganese ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in Golgi calcium ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in Golgi calcium ion homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in Golgi calcium ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in Golgi calcium ion transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in Golgi calcium ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in actin cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in actin cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in calcium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in calcium ion transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in calcium ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in epidermis development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in epidermis development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in intracellular calcium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intracellular calcium ion homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intracellular calcium ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in intracellular manganese ion homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intracellular manganese ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in manganese ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in manganese ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in manganese ion transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in manganese ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of Golgi to plasma membrane protein transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of Golgi to plasma membrane protein transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of Golgi to plasma membrane protein transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of canonical NF-kappaB signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in trans-Golgi network membrane organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in trans-Golgi network membrane organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in Golgi cisterna membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in Golgi membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in Golgi membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cis-Golgi network membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in secretory granule ISO
    Inferred from Sequence Orthology
    more info
     
    located_in trans-Golgi network ISO
    Inferred from Sequence Orthology
    more info
     
    located_in trans-Golgi network ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    calcium-transporting ATPase type 2C member 1
    Names
    ATP-dependent Ca(2+) pump PMR1
    ATPase 2C1
    ATPase, Ca++ transporting, type 2C, member 1
    Ca(2+)/Mn(2+)-ATPase 2C1
    secretory pathway Ca(2+)-transporting ATPase type 1
    NP_001240760.1
    NP_001240763.1
    NP_001240765.1
    NP_001346751.1
    NP_001346752.1
    NP_778190.3
    XP_006511774.1
    XP_006511775.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001253831.1NP_001240760.1  calcium-transporting ATPase type 2C member 1 isoform 1

      See identical proteins and their annotated locations for NP_001240760.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest protein (isoform 1).
      Source sequence(s)
      AK133703, AK163049, AK173154, BC043091
      Consensus CDS
      CCDS57698.1
      UniProtKB/TrEMBL
      Q3TVY6, Q3UZR5
      Related
      ENSMUSP00000082220.7, ENSMUST00000085133.13
      Conserved Domains (6) summary
      TIGR01522
      Location:57936
      ATPase-IIA2_Ca; golgi membrane calcium-translocating P-type ATPase
      COG4087
      Location:589712
      COG4087; Soluble P-type ATPase [General function prediction only]
      pfam00122
      Location:152372
      E1-E2_ATPase; E1-E2 ATPase
      pfam00689
      Location:759931
      Cation_ATPase_C; Cation transporting ATPase, C-terminus
      pfam00690
      Location:60128
      Cation_ATPase_N; Cation transporter/ATPase, N-terminus
      pfam13246
      Location:443526
      Cation_ATPase; Cation transport ATPase (P-type)
    2. NM_001253834.1NP_001240763.1  calcium-transporting ATPase type 2C member 1 isoform 2

      See identical proteins and their annotated locations for NP_001240763.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has a different 5' end which results in the use of an alternate start codon, compared to variant 1. The resulting protein (isoform 2) has a shorter and distinct N-terminus when it is compared to isoform 1. Variants 2 and 3 encode the same protein.
      Source sequence(s)
      AJ551270, AK163049, AK173154, BC043091, BU611728
      Consensus CDS
      CCDS40752.1
      UniProtKB/Swiss-Prot
      E9QMB9, Q80XR2, Q80YZ2
      UniProtKB/TrEMBL
      Q3TVY6
      Related
      ENSMUSP00000108177.3, ENSMUST00000112558.10
      Conserved Domains (1) summary
      cd02085
      Location:54895
      P-type_ATPase_SPCA; golgi-associated secretory pathway Ca(2+) transport ATPases, similar to human ATPase secretory pathway Ca(2+) transporting 1/hSPCA1 and Saccharomyces cerevisiae Ca(2+)/Mn(2+)-transporting P-type ATPase, Pmr1p
    3. NM_001253836.1NP_001240765.1  calcium-transporting ATPase type 2C member 1 isoform 3

      See identical proteins and their annotated locations for NP_001240765.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has a multiple differences, compared to variant 1. These differences result in distinct 5' and 3' UTRs and cause translation initiation at a downstream start codon, compared to variant 1. The encoded protein (isoform 3) is shorter than isoform 1.
      Source sequence(s)
      AK028393, BU611728, BU754887
      Consensus CDS
      CCDS57697.1
      UniProtKB/TrEMBL
      Q8BMS7
      Related
      ENSMUSP00000129617.3, ENSMUST00000163879.9
      Conserved Domains (4) summary
      COG4087
      Location:594662
      COG4087; Soluble P-type ATPase [General function prediction only]
      pfam00122
      Location:102322
      E1-E2_ATPase; E1-E2 ATPase
      pfam00690
      Location:1078
      Cation_ATPase_N; Cation transporter/ATPase, N-terminus
      pfam13246
      Location:393476
      Cation_ATPase; Cation transport ATPase (P-type)
    4. NM_001359822.1NP_001346751.1  calcium-transporting ATPase type 2C member 1 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) has a different 5' end which results in the use of an alternate start codon, compared to variant 1. The resulting protein (isoform 4) has a shorter and distinct N-terminus when it is compared to isoform 1.
      Source sequence(s)
      AC113016, AC117679, BC043091
      UniProtKB/TrEMBL
      Q3TVY6
      Conserved Domains (1) summary
      cd02085
      Location:58899
      P-type_ATPase_SPCA; golgi-associated secretory pathway Ca(2+) transport ATPases, similar to human ATPase secretory pathway Ca(2+) transporting 1/hSPCA1 and Saccharomyces cerevisiae Ca(2+)/Mn(2+)-transporting P-type ATPase, Pmr1p
    5. NM_001359823.1NP_001346752.1  calcium-transporting ATPase type 2C member 1 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) has a different 5' end which causes translation initiation at a downstream start codon, compared to variant 1. The resulting protein (isoform 5) has a shorter N-terminus when it is compared to isoform 1.
      Source sequence(s)
      AC113016, AC117679, BC043091
      UniProtKB/TrEMBL
      Q69ZL4
      Related
      ENSMUSP00000135802.2, ENSMUST00000177293.8
      Conserved Domains (1) summary
      cd02085
      Location:38879
      P-type_ATPase_SPCA; golgi-associated secretory pathway Ca(2+) transport ATPases, similar to human ATPase secretory pathway Ca(2+) transporting 1/hSPCA1 and Saccharomyces cerevisiae Ca(2+)/Mn(2+)-transporting P-type ATPase, Pmr1p
    6. NM_175025.4NP_778190.3  calcium-transporting ATPase type 2C member 1 isoform 2

      See identical proteins and their annotated locations for NP_778190.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has a different 5' end which results in the use of an alternate start codon, compared to variant 1. The resulting protein (isoform 2) has a shorter and distinct N-terminus when it is compared to isoform 1. Variants 2 and 3 encode the same protein.
      Source sequence(s)
      AK173154, BC043091, BC043706, BU611728
      Consensus CDS
      CCDS40752.1
      UniProtKB/Swiss-Prot
      E9QMB9, Q80XR2, Q80YZ2
      UniProtKB/TrEMBL
      Q3TVY6
      Related
      ENSMUSP00000039103.8, ENSMUST00000038118.15
      Conserved Domains (1) summary
      cd02085
      Location:54895
      P-type_ATPase_SPCA; golgi-associated secretory pathway Ca(2+) transport ATPases, similar to human ATPase secretory pathway Ca(2+) transporting 1/hSPCA1 and Saccharomyces cerevisiae Ca(2+)/Mn(2+)-transporting P-type ATPase, Pmr1p

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      105288561..105398456 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006511712.5XP_006511775.1  calcium-transporting ATPase type 2C member 1 isoform X1

      See identical proteins and their annotated locations for XP_006511775.1

      UniProtKB/TrEMBL
      Q3TVY6
      Conserved Domains (1) summary
      cd02085
      Location:58899
      P-type_ATPase_SPCA; golgi-associated secretory pathway Ca(2+) transport ATPases, similar to human ATPase secretory pathway Ca(2+) transporting 1/hSPCA1 and Saccharomyces cerevisiae Ca(2+)/Mn(2+)-transporting P-type ATPase, Pmr1p
    2. XM_006511711.5XP_006511774.1  calcium-transporting ATPase type 2C member 1 isoform X1

      See identical proteins and their annotated locations for XP_006511774.1

      UniProtKB/TrEMBL
      Q3TVY6
      Conserved Domains (1) summary
      cd02085
      Location:58899
      P-type_ATPase_SPCA; golgi-associated secretory pathway Ca(2+) transport ATPases, similar to human ATPase secretory pathway Ca(2+) transporting 1/hSPCA1 and Saccharomyces cerevisiae Ca(2+)/Mn(2+)-transporting P-type ATPase, Pmr1p