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

Summary

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

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
Crosstalk among Calcium ATPases: PMCA, SERCA and SPCA in Mental Diseases.
Title: Crosstalk among Calcium ATPases: PMCA, SERCA and SPCA in Mental Diseases.
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.
SPCA1 governs the stability of TMEM165 in Hailey-Hailey disease.
Title: SPCA1 governs the stability of TMEM165 in Hailey-Hailey disease.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH12102 (e-PCR)
- UniSTS:31237

SHGC-77338 (e-PCR)
- UniSTS:80185

AB060927 (e-PCR)
- UniSTS:479817

HT001__6609 (e-PCR)
- UniSTS:464492

SHGC-110366 (e-PCR)
- UniSTS:167809

ATP2C1_3811 (e-PCR)
- UniSTS:463236

RH11935 (e-PCR)
- UniSTS:51335

A002S47 (e-PCR)
- UniSTS:62350

RH78727 (e-PCR)
- UniSTS:37807

RH11905 (e-PCR)
- UniSTS:38328

SHGC-77341 (e-PCR)
- UniSTS:6081

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 more info	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 more info	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

EC 7.2.2.10

NP_001001486.1

EC 7.2.2.10

NP_001001487.1

EC 7.2.2.10

NP_001186108.1

EC 7.2.2.10

NP_001186109.1

EC 7.2.2.10

NP_001186110.1

EC 7.2.2.10

NP_001186111.1

EC 7.2.2.10

NP_001186112.1

EC 7.2.2.10

NP_001186113.1

EC 7.2.2.10

NP_001186114.1

EC 7.2.2.10

NP_001365440.1

EC 7.2.2.10

NP_001365441.1

EC 7.2.2.10

NP_001365442.1

EC 7.2.2.10

NP_001365443.1

EC 7.2.2.10

NP_001365616.1

EC 7.2.2.10

NP_055197.2

EC 7.2.2.10

XP_011510988.1

EC 7.2.2.10

XP_047303916.1

EC 7.2.2.10

XP_047303917.1

EC 7.2.2.10

XP_047303918.1

EC 7.2.2.10

XP_047303919.1

EC 7.2.2.10

XP_047303921.1

EC 7.2.2.10

XP_047303922.1

EC 7.2.2.10

XP_054202134.1

EC 7.2.2.10

XP_054202135.1

EC 7.2.2.10

XP_054202136.1

EC 7.2.2.10

XP_054202137.1

EC 7.2.2.10

XP_054202138.1

EC 7.2.2.10

XP_054202139.1

EC 7.2.2.10

XP_054202140.1

EC 7.2.2.10

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

NG_007379.2 RefSeqGene

Range

48560..157626

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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
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
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
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)
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)
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)
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)
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)
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)
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
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
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
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
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
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

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

130850595..131016712

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047447960.1 → XP_047303916.1 calcium-transporting ATPase type 2C member 1 isoform X1
XM_047447961.1 → XP_047303917.1 calcium-transporting ATPase type 2C member 1 isoform X2
XM_047447966.1 → XP_047303922.1 calcium-transporting ATPase type 2C member 1 isoform X7
XM_047447962.1 → XP_047303918.1 calcium-transporting ATPase type 2C member 1 isoform X3
XM_047447963.1 → XP_047303919.1 calcium-transporting ATPase type 2C member 1 isoform X4
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)
XM_047447965.1 → XP_047303921.1 calcium-transporting ATPase type 2C member 1 isoform X6

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

133594441..133760462

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054346159.1 → XP_054202134.1 calcium-transporting ATPase type 2C member 1 isoform X1
XM_054346160.1 → XP_054202135.1 calcium-transporting ATPase type 2C member 1 isoform X2
XM_054346165.1 → XP_054202140.1 calcium-transporting ATPase type 2C member 1 isoform X7
XM_054346161.1 → XP_054202136.1 calcium-transporting ATPase type 2C member 1 isoform X3
XM_054346162.1 → XP_054202137.1 calcium-transporting ATPase type 2C member 1 isoform X4
XM_054346163.1 → XP_054202138.1 calcium-transporting ATPase type 2C member 1 isoform X5
XM_054346164.1 → XP_054202139.1 calcium-transporting ATPase type 2C member 1 isoform X6