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ATP2C1 ATPase secretory pathway Ca2+ transporting 1 [ Homo sapiens (human) ]

Gene ID: 27032, updated on 7-Apr-2024

Summary

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Official Symbol
ATP2C1provided by HGNC
Official Full Name
ATPase secretory pathway Ca2+ transporting 1provided by HGNC
Primary source
HGNC:HGNC:13211
See related
Ensembl:ENSG00000017260 MIM:604384; AllianceGenome:HGNC:13211
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HHD; BCPM; PMR1; SPCA1; hSPCA1; ATP2C1A
Summary
The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
Expression
Ubiquitous expression in prostate (RPKM 37.4), brain (RPKM 22.8) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
3q22.1
Exon count:
31
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (130850595..131016712)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (133594441..133760462)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (130569439..130735556)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986023 Neighboring gene uncharacterized LOC105374107 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:130557669-130558434 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr3:130558435-130559198 Neighboring gene uncharacterized LOC105374108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20524 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:130587640-130588528 Neighboring gene glutathione S-transferase omega 3, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20525 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20526 Neighboring gene makorin ring finger protein 1 pseudogene Neighboring gene CSRP2 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20527 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20529 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:130761319-130762129 Neighboring gene uncharacterized LOC124909434 Neighboring gene asteroid homolog 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:130796655-130797231 Neighboring gene NIMA related kinase 11 Neighboring gene RNA, U6 small nuclear 726, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Two novel mutations in the ATP2C1 gene found in Japanese patients with Hailey-Hailey disease. Miyazaki S, et al. J Dermatol, 2022 Jun. PMID 35274376
  2. Generalized Hailey-Hailey disease: Novel splice-site mutations of ATP2C1 gene in Chinese population and a literature review. Yang L, et al. Mol Genet Genomic Med, 2021 Feb. PMID 33345454, Free PMC Article
  3. The SERCA residue Glu340 mediates interdomain communication that guides Ca(2+) transport. Geurts MMG, et al. Proc Natl Acad Sci U S A, 2020 Dec 8. PMID 33229570, Free PMC Article
  4. The Golgi Calcium ATPase Pump Plays an Essential Role in Adeno-associated Virus Trafficking and Transduction. Madigan VJ, et al. J Virol, 2020 Oct 14. PMID 32817219, Free PMC Article
  5. SPCA1 governs the stability of TMEM165 in Hailey-Hailey disease. Roy AS, et al. Biochimie, 2020 Jul. PMID 32335229

See all (144) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Loss of ATP2C1 function promotes trafficking and degradation of NOTCH1: Implications for Hailey-Hailey disease.
    Title: Loss of ATP2C1 function promotes trafficking and degradation of NOTCH1: Implications for Hailey-Hailey disease.
  2. Calcium and the Ca-ATPase SPCA1 modulate plasma membrane abundance of ZIP8 and ZIP14 to regulate Mn(II) uptake in brain microvascular endothelial cells.
    Title: Calcium and the Ca-ATPase SPCA1 modulate plasma membrane abundance of ZIP8 and ZIP14 to regulate Mn(II) uptake in brain microvascular endothelial cells.
  3. Two novel mutations in the ATP2C1 gene found in Japanese patients with Hailey-Hailey disease.
    Title: Two novel mutations in the ATP2C1 gene found in Japanese patients with Hailey-Hailey disease.
  4. Genome-wide association study identifies RNF123 locus as associated with chronic widespread musculoskeletal pain.
    Title: Genome-wide association study identifies RNF123 locus as associated with chronic widespread musculoskeletal pain.
  5. Generalized Hailey-Hailey disease: Novel splice-site mutations of ATP2C1 gene in Chinese population and a literature review.
    Title: Generalized Hailey-Hailey disease: Novel splice-site mutations of ATP2C1 gene in Chinese population and a literature review.
  6. Crosstalk among Calcium ATPases: PMCA, SERCA and SPCA in Mental Diseases.
    Title: Crosstalk among Calcium ATPases: PMCA, SERCA and SPCA in Mental Diseases.
  7. The SERCA residue Glu340 mediates interdomain communication that guides Ca(2+) transport.
    Title: The SERCA residue Glu340 mediates interdomain communication that guides Ca(2+) transport.
  8. SPCA1 governs the stability of TMEM165 in Hailey-Hailey disease.
    Title: SPCA1 governs the stability of TMEM165 in Hailey-Hailey disease.
  9. The Golgi Calcium ATPase Pump Plays an Essential Role in Adeno-associated Virus Trafficking and Transduction.
    Title: The Golgi Calcium ATPase Pump Plays an Essential Role in Adeno-associated Virus Trafficking and Transduction.
  10. Novel and recurrent variants of ATP2C1 identified in patients with Hailey-Hailey disease.
    Title: Novel and recurrent variants of ATP2C1 identified in patients with Hailey-Hailey disease.
Submit: New GeneRIF Correction See all GeneRIFs (85)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Familial benign pemphigus
MedGen: C0085106 OMIM: 169600 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1347

Gene Ontology Provided by GOA

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

General protein information

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Preferred Names
calcium-transporting ATPase type 2C member 1
Names
ATP-dependent Ca(2+) pump PMR1
ATPase 2C1
ATPase, Ca(2+)-sequestering
ATPase, Ca++ transporting, type 2C, member 1
Ca(2+)/Mn(2+)-ATPase 2C1
HUSSY-28
secretory pathway Ca(2+)-transporting ATPase type 1
secretory pathway Ca2+/Mn2+ ATPase 1
NP_001001485.1
NP_001001486.1
NP_001001487.1
NP_001186108.1
NP_001186109.1
NP_001186110.1
NP_001186111.1
NP_001186112.1
NP_001186113.1
NP_001186114.1
NP_001365440.1
NP_001365441.1
NP_001365442.1
NP_001365443.1
NP_001365616.1
NP_055197.2
XP_011510988.1
XP_047303916.1
XP_047303917.1
XP_047303918.1
XP_047303919.1
XP_047303921.1
XP_047303922.1
XP_054202134.1
XP_054202135.1
XP_054202136.1
XP_054202137.1
XP_054202138.1
XP_054202139.1
XP_054202140.1

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.

Genomic

  1. NG_007379.2 RefSeqGene

    Range
    48560..157626
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001001485.3 → NP_001001485.1  calcium-transporting ATPase type 2C member 1 isoform 1c

    See identical proteins and their annotated locations for NP_001001485.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate 5' sequence and lacks an internal exon in the 3' region, as compared to variant 6. The resulting isoform (1c) has shorter and distinct N- and C-termini, as compared to isoform 2a. Variants 3 and 11 encode the same isoform 1c.
    Source sequence(s)
    AF225981, BC028139, DA405579
    Consensus CDS
    CCDS46913.1
    UniProtKB/TrEMBL
    B4E295
    Related
    ENSP00000432956.3, ENST00000533801.6
    Conserved Domains (6) summary
    TIGR01522
    Location:23 → 878
    ATPase-IIA2_Ca; golgi membrane calcium-translocating P-type ATPase
    COG4087
    Location:556 → 679
    COG4087; Soluble P-type ATPase [General function prediction only]
    pfam00122
    Location:106 → 339
    E1-E2_ATPase; E1-E2 ATPase
    pfam00689
    Location:726 → 880
    Cation_ATPase_C; Cation transporting ATPase, C-terminus
    pfam00690
    Location:26 → 94
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    pfam13246
    Location:410 → 493
    Cation_ATPase; Cation transport ATPase (P-type)

  2. NM_001001486.2 → NP_001001486.1  calcium-transporting ATPase type 2C member 1 isoform 1d

    See identical proteins and their annotated locations for NP_001001486.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has an alternate 5' exon and an alternate splice site in the last splice junction, as compared to variant 6. The resulting isoform (1d) has a shorter and distinct N-terminus and an additional segment in the C-terminal region, as compared to isoform 2a.
    Source sequence(s)
    AC055733
    Consensus CDS
    CCDS33856.1
    UniProtKB/TrEMBL
    B4E295, H0Y9V7
    Related
    ENSP00000352665.3, ENST00000359644.7
    Conserved Domains (1) summary
    cd02085
    Location:54 → 896
    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_001001487.2 → NP_001001487.1  calcium-transporting ATPase type 2C member 1 isoform 1b

    See identical proteins and their annotated locations for NP_001001487.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' exon, as compared to variant 6. The resulting isoform (1b) has a shorter and distinct N-terminus, as compared to isoform 2a.
    Source sequence(s)
    AC055733
    Consensus CDS
    CCDS46912.1
    UniProtKB/TrEMBL
    H0Y9V7
    Related
    ENSP00000402677.2, ENST00000422190.6
    Conserved Domains (1) summary
    cd02085
    Location:54 → 896
    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

  4. NM_001199179.3 → NP_001186108.1  calcium-transporting ATPase type 2C member 1 isoform 1a

    See identical proteins and their annotated locations for NP_001186108.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has an alternate 5' sequence, lacks the 3' exon and contains an alternate 3' segment, as compared to variant 6. The resulting isoform (1a) has shorter and distinct N- and C-termini, as compared to isoform 2a. Variants 1 and 5 encode the same isoform 1a.
    Source sequence(s)
    AB037768, AC055733, BQ220831
    Consensus CDS
    CCDS46914.1
    UniProtKB/Swiss-Prot
    B2RAT7, B4DSW3, B7Z3X9, G3XAH8, G8JLN9, O76005, P98194, Q86V72, Q86V73, Q8N6V1, Q8NCJ7
    UniProtKB/TrEMBL
    B4E295
    Related
    ENSP00000424783.1, ENST00000508532.5
    Conserved Domains (1) summary
    cd02085
    Location:54 → 896
    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_001199180.2 → NP_001186109.1  calcium-transporting ATPase type 2C member 1 isoform 2a

    See identical proteins and their annotated locations for NP_001186109.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) encodes the longest isoform (2a).
    Source sequence(s)
    AF225981, AK296470, DC422788
    Consensus CDS
    CCDS56278.1
    UniProtKB/TrEMBL
    H0Y9V7
    Related
    ENSP00000421326.3, ENST00000507488.6
    Conserved Domains (6) summary
    TIGR01522
    Location:57 → 937
    ATPase-IIA2_Ca; golgi membrane calcium-translocating P-type ATPase
    COG4087
    Location:590 → 713
    COG4087; Soluble P-type ATPase [General function prediction only]
    pfam00122
    Location:140 → 373
    E1-E2_ATPase; E1-E2 ATPase
    pfam00689
    Location:760 → 932
    Cation_ATPase_C; Cation transporting ATPase, C-terminus
    pfam00690
    Location:60 → 128
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    pfam13246
    Location:444 → 527
    Cation_ATPase; Cation transport ATPase (P-type)

  6. NM_001199181.3 → NP_001186110.1  calcium-transporting ATPase type 2C member 1 isoform 2b

    See identical proteins and their annotated locations for NP_001186110.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks the 3' exon and contains an alternate 3' segment, as compared to variant 6. The resulting isoform (2b) has a shorter and distinct C-terminus, as compared to isoform 2a.
    Source sequence(s)
    AC055733, AC097105
    Consensus CDS
    CCDS75006.1
    UniProtKB/TrEMBL
    B4E295, B4E2Q0
    Related
    ENSP00000423774.2, ENST00000505330.5
    Conserved Domains (6) summary
    TIGR01522
    Location:57 → 937
    ATPase-IIA2_Ca; golgi membrane calcium-translocating P-type ATPase
    COG4087
    Location:590 → 713
    COG4087; Soluble P-type ATPase [General function prediction only]
    pfam00122
    Location:140 → 373
    E1-E2_ATPase; E1-E2 ATPase
    pfam00689
    Location:760 → 932
    Cation_ATPase_C; Cation transporting ATPase, C-terminus
    pfam00690
    Location:60 → 128
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    pfam13246
    Location:444 → 527
    Cation_ATPase; Cation transport ATPase (P-type)

  7. NM_001199182.2 → NP_001186111.1  calcium-transporting ATPase type 2C member 1 isoform 2c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks an in-frame exon in the 5' CDS and has an alternate splice site in the last splice junction, as compared to variant 6. The resulting isoform (2c) lacks a segment in the N-terminal region and has an additional segment in the C-terminal region, as compared to isoform 2a.
    Source sequence(s)
    AF225981, AK299945, AY268375, DC422788
    Consensus CDS
    CCDS56279.1
    UniProtKB/TrEMBL
    H0Y9V7
    Related
    ENSP00000425320.2, ENST00000504381.5
    Conserved Domains (6) summary
    TIGR01522
    Location:57 → 898
    ATPase-IIA2_Ca; golgi membrane calcium-translocating P-type ATPase
    COG4087
    Location:551 → 674
    COG4087; Soluble P-type ATPase [General function prediction only]
    pfam00122
    Location:101 → 334
    E1-E2_ATPase; E1-E2 ATPase
    pfam00689
    Location:721 → 893
    Cation_ATPase_C; Cation transporting ATPase, C-terminus
    pfam00690
    Location:13 → 89
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    pfam13246
    Location:405 → 488
    Cation_ATPase; Cation transport ATPase (P-type)

  8. NM_001199183.2 → NP_001186112.1  calcium-transporting ATPase type 2C member 1 isoform 1e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) has an alternate 5' exon, resulting in a downstream AUG start codon, as compared to variant 6. The resulting isoform (1e) is shorter at the N-terminus, as compared to isoform 2a.
    Source sequence(s)
    AF225981, AK304175, DC345627
    Consensus CDS
    CCDS56280.1
    UniProtKB/TrEMBL
    H0Y9V7
    Related
    ENSP00000422872.1, ENST00000513801.5
    Conserved Domains (6) summary
    TIGR01522
    Location:7 → 887
    ATPase-IIA2_Ca; golgi membrane calcium-translocating P-type ATPase
    COG4087
    Location:540 → 663
    COG4087; Soluble P-type ATPase [General function prediction only]
    pfam00122
    Location:90 → 323
    E1-E2_ATPase; E1-E2 ATPase
    pfam00689
    Location:710 → 882
    Cation_ATPase_C; Cation transporting ATPase, C-terminus
    pfam00690
    Location:10 → 78
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    pfam13246
    Location:394 → 477
    Cation_ATPase; Cation transport ATPase (P-type)

  9. NM_001199184.3 → NP_001186113.1  calcium-transporting ATPase type 2C member 1 isoform 1f

    See identical proteins and their annotated locations for NP_001186113.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) has an alternate 5' exon, resulting in a downstream AUG start codon, lacks the 3' exon and contains an alternate 3' segment, as compared to variant 6. The resulting isoform (1f) is shorter at the N-terminus and has a shorter and distinct C-terminus, as compared to isoform 2a.
    Source sequence(s)
    AC055733, AF189723, BQ220831, DC345627
    Consensus CDS
    CCDS56281.1
    UniProtKB/TrEMBL
    B4E295
    Related
    ENSP00000423330.1, ENST00000504948.5
    Conserved Domains (6) summary
    TIGR01522
    Location:7 → 887
    ATPase-IIA2_Ca; golgi membrane calcium-translocating P-type ATPase
    COG4087
    Location:540 → 663
    COG4087; Soluble P-type ATPase [General function prediction only]
    pfam00122
    Location:90 → 323
    E1-E2_ATPase; E1-E2 ATPase
    pfam00689
    Location:710 → 882
    Cation_ATPase_C; Cation transporting ATPase, C-terminus
    pfam00690
    Location:10 → 78
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    pfam13246
    Location:394 → 477
    Cation_ATPase; Cation transport ATPase (P-type)

  10. NM_001199185.2 → NP_001186114.1  calcium-transporting ATPase type 2C member 1 isoform 1c

    See identical proteins and their annotated locations for NP_001186114.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) has an alternate 5' exon and lacks an internal exon in the 3' region, as compared to variant 6. The resulting isoform (1c) has shorter and distinct N- and C-termini, as compared to isoform 2a. Variants 3 and 11 encode the same isoform 1c.
    Source sequence(s)
    AF181121, AF225981, BC028139
    Consensus CDS
    CCDS46913.1
    UniProtKB/TrEMBL
    B4E295
    Related
    ENSP00000329664.8, ENST00000328560.12
    Conserved Domains (6) summary
    TIGR01522
    Location:23 → 878
    ATPase-IIA2_Ca; golgi membrane calcium-translocating P-type ATPase
    COG4087
    Location:556 → 679
    COG4087; Soluble P-type ATPase [General function prediction only]
    pfam00122
    Location:106 → 339
    E1-E2_ATPase; E1-E2 ATPase
    pfam00689
    Location:726 → 880
    Cation_ATPase_C; Cation transporting ATPase, C-terminus
    pfam00690
    Location:26 → 94
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    pfam13246
    Location:410 → 493
    Cation_ATPase; Cation transport ATPase (P-type)

  11. NM_001378511.1 → NP_001365440.1  calcium-transporting ATPase type 2C member 1 isoform 2d

    Status: REVIEWED

    Source sequence(s)
    AC055733, AC097105
    UniProtKB/TrEMBL
    H0Y9V7
    Conserved Domains (1) summary
    TIGR01522
    Location:57 → 937
    ATPase-IIA2_Ca; golgi membrane calcium-translocating P-type ATPase

  12. NM_001378512.1 → NP_001365441.1  calcium-transporting ATPase type 2C member 1 isoform 1d

    Status: REVIEWED

    Source sequence(s)
    AC055733
    Consensus CDS
    CCDS33856.1
    UniProtKB/TrEMBL
    B4E295, H0Y9V7
    Conserved Domains (1) summary
    cd02085
    Location:54 → 896
    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

  13. NM_001378513.1 → NP_001365442.1  calcium-transporting ATPase type 2C member 1 isoform 1b

    Status: REVIEWED

    Source sequence(s)
    AC055733
    Consensus CDS
    CCDS46912.1
    UniProtKB/TrEMBL
    H0Y9V7
    Conserved Domains (1) summary
    cd02085
    Location:54 → 896
    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

  14. NM_001378514.1 → NP_001365443.1  calcium-transporting ATPase type 2C member 1 isoform 1g

    Status: REVIEWED

    Source sequence(s)
    AC055733
    UniProtKB/TrEMBL
    B4E295, H0Y9V7
    Related
    ENSP00000425228.1, ENST00000504612.5
    Conserved Domains (1) summary
    cd02085
    Location:38 → 880
    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

  15. NM_001378687.1 → NP_001365616.1  calcium-transporting ATPase type 2C member 1 isoform 1a

    Status: REVIEWED

    Source sequence(s)
    AC055733
    Consensus CDS
    CCDS46914.1
    UniProtKB/Swiss-Prot
    B2RAT7, B4DSW3, B7Z3X9, G3XAH8, G8JLN9, O76005, P98194, Q86V72, Q86V73, Q8N6V1, Q8NCJ7
    UniProtKB/TrEMBL
    B4E295
    Related
    ENSP00000427461.1, ENST00000510168.6
    Conserved Domains (1) summary
    cd02085
    Location:54 → 896
    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

  16. NM_014382.5 → NP_055197.2  calcium-transporting ATPase type 2C member 1 isoform 1a

    See identical proteins and their annotated locations for NP_055197.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) has an alternate 5' exon, lacks the 3' exon and contains an alternate 3' segment, as compared to variant 6. The resulting isoform (1a) has shorter and distinct N- and C-termini, as compared to isoform 2a. Variants 1 and 5 encode the same isoform 1a.
    Source sequence(s)
    AC055733, AF181120, AK314342, BQ220831, DC343471
    Consensus CDS
    CCDS46914.1
    UniProtKB/Swiss-Prot
    B2RAT7, B4DSW3, B7Z3X9, G3XAH8, G8JLN9, O76005, P98194, Q86V72, Q86V73, Q8N6V1, Q8NCJ7
    UniProtKB/TrEMBL
    B4E295
    Related
    ENSP00000395809.2, ENST00000428331.6
    Conserved Domains (1) summary
    cd02085
    Location:54 → 896
    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_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    130850595..131016712
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047447960.1 → XP_047303916.1  calcium-transporting ATPase type 2C member 1 isoform X1

  2. XM_047447961.1 → XP_047303917.1  calcium-transporting ATPase type 2C member 1 isoform X2

  3. XM_047447966.1 → XP_047303922.1  calcium-transporting ATPase type 2C member 1 isoform X7

  4. XM_047447962.1 → XP_047303918.1  calcium-transporting ATPase type 2C member 1 isoform X3

  5. XM_047447963.1 → XP_047303919.1  calcium-transporting ATPase type 2C member 1 isoform X4

  6. XM_011512686.3 → XP_011510988.1  calcium-transporting ATPase type 2C member 1 isoform X5

    UniProtKB/TrEMBL
    Q59G44
    Conserved Domains (4) summary
    COG4087
    Location:278 → 401
    COG4087; Soluble P-type ATPase [General function prediction only]
    pfam00122
    Location:23 → 61
    E1-E2_ATPase; E1-E2 ATPase
    pfam00689
    Location:448 → 620
    Cation_ATPase_C; Cation transporting ATPase, C-terminus
    pfam13246
    Location:132 → 215
    Cation_ATPase; Cation transport ATPase (P-type)

  7. XM_047447965.1 → XP_047303921.1  calcium-transporting ATPase type 2C member 1 isoform X6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    133594441..133760462
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054346159.1 → XP_054202134.1  calcium-transporting ATPase type 2C member 1 isoform X1

  2. XM_054346160.1 → XP_054202135.1  calcium-transporting ATPase type 2C member 1 isoform X2

  3. XM_054346165.1 → XP_054202140.1  calcium-transporting ATPase type 2C member 1 isoform X7

  4. XM_054346161.1 → XP_054202136.1  calcium-transporting ATPase type 2C member 1 isoform X3

  5. XM_054346162.1 → XP_054202137.1  calcium-transporting ATPase type 2C member 1 isoform X4

  6. XM_054346163.1 → XP_054202138.1  calcium-transporting ATPase type 2C member 1 isoform X5

  7. XM_054346164.1 → XP_054202139.1  calcium-transporting ATPase type 2C member 1 isoform X6

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P98194.3 GenPept UniProtKB/Swiss-Prot:P98194

Gene LinkOut

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