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

Gene ID: 235574, updated on 27-Feb-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
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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
  • 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 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 TAS
Traceable Author Statement
more info
PubMed 
enables P-type manganese transporter activity ISO
Inferred from Sequence Orthology
more info
 
enables calcium ion binding ISO
Inferred from Sequence Orthology
more info
 
enables manganese ion binding ISO
Inferred from Sequence Orthology
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables transporter activity IEA
Inferred from Electronic Annotation
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 transport ISO
Inferred from Sequence Orthology
more info
 
involved_in actin cytoskeleton organization ISO
Inferred from Sequence Orthology
more info
 
involved_in calcium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in calcium ion transport ISO
Inferred from Sequence Orthology
more info
 
involved_in calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules ISO
Inferred from Sequence Orthology
more info
 
involved_in epidermis development ISO
Inferred from Sequence Orthology
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 manganese ion homeostasis ISO
Inferred from Sequence Orthology
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
 
acts_upstream_of_or_within monoatomic ion transport IEA
Inferred from Electronic Annotation
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 trans-Golgi network membrane organization ISO
Inferred from Sequence Orthology
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 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 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
 

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)

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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