Gene name:
ATP2C1 (HUSSY-28;KIAA1347;PMR1L) ;
Protein name:
Calcium-transporting ATPase type 2C member 1 (ATPase 2C1) ;
Alternative:
ATP-dependent Ca(2+) pump PMR1 ;
Organism:
Human (Homo sapiens).
General Annotation
Function:
This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium.
Subcellular Location:
Golgi apparatus membrane
Multi-pass membrane protein
Protein Attributes:
50:
MKVARFQKIP | NGENETMIPV | LTSKKASELP | VSEVASILQA | DLQNGLNKCE |
100:
VSHRRAFHGW | NEFDISEDEP | LWKKYISQFK | NPLIMLLLAS | AVISVLMHQF |
150:
DDAVSITVAI | LIVVTVAFVQ | EYRSEKSLEE | LSKLVPPECH | CVREGKLEHT |
200:
LARDLVPGDT | VCLSVGDRVP | ADLRLFEAVD | LSIDESSLTG | ETTPCSKVTA |
250:
PQPAATNGDL | ASRSNIAFMG | TLVRCGKAKG | VVIGTGENSE | FGEVFKMMQA |
300:
EEAPKTPLQK | SMDLLGKQLS | FYSFGIIGII | MLVGWLLGKD | ILEMFTISVS |
350:
LAVAAIPEGL | PIVVTVTLAL | GVMRMVKKRA | IVKKLPIVET | LGCCNVICSD |
400:
KTGTLTKNEM | TVTHIFTSDG | LHAEVTGVGY | NQFGEVIVDG | DVVHGFYNPA |
450:
VSRIVEAGCV | CNDAVIRNNT | LMGKPTEGAL | IALAMKMGLD | GLQQDYIRKA |
500:
EYPFSSEQKW | MAVKCVHRTQ | QDRPEICFMK | GAYEQVIKYC | TTYQSKGQTL |
550:
TLTQQQRDVY | QQEKARMGSA | GLRVLALASG | PELGQLTFLG | LVGIIDPPRT |
600:
GVKEAVTTLI | ASGVSIKMIT | GDSQETAVAI | ASRLGLYSKT | SQSVSGEEID |
650:
AMDVQQLSQI | VPKVAVFYRA | SPRHKMKIIK | SLQKNGSVVA | MTGDGVNDAV |
700:
ALKAADIGVA | MGQTGTDVCK | EAADMILVDD | DFQTIMSAIE | EGKGIYNNIK |
750:
NFVRFQLSTS | IAALTLISLA | TLMNFPNPLN | AMQILWINII | MDGPPAQSLG |
800:
VEPVDKDVIR | KPPRNWKDSI | LTKNLILKIL | VSSIIIVCGT | LFVFWRELRD |
850:
NVITPRDTTM | TFTCFVFFDM | FNALSSRSQT | KSVFEIGLCS | NRMFCYAVLG |
900:
SIMGQLLVIY | FPPLQKVFQT | ESLSILDLLF | LLGLTSSVCI | VAEIIKKVER |
919:
SREKIQKHVS | STSSSFLEV
Vaild Sequence:
Related Databases
Uniprot:
ELISA Kit
CLIA Kit
Polyclonal Antibody
Monoclonal Antibody
Protein
FOR
Bovine
Mouse
Rat
Human
ELISA Kit for Human ATPase 2C1
ELISA Kit for Human ATPase 2C1
ELISA Kit for Human ATPase 2C1
ELISA Kit for Human ATPase 2C1
CLIA Kit for Human ATPase 2C1
CLIA Kit for Human ATPase 2C1
CLIA Kit for Human ATPase 2C1
CLIA Kit for Human ATPase 2C1
Polyclonal Antibody for Human ATPase 2C1
Polyclonal Antibody for Human ATPase 2C1
Polyclonal Antibody for Human ATPase 2C1
Polyclonal Antibody for Human ATPase 2C1
Monoclonal Antibody for Human ATPase 2C1
Monoclonal Antibody for Human ATPase 2C1
Monoclonal Antibody for Human ATPase 2C1
Monoclonal Antibody for Human ATPase 2C1
Protein for Human ATPase 2C1
Protein for Human ATPase 2C1
Protein for Human ATPase 2C1
Protein for Human ATPase 2C1
R&D Technical Data
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Precision
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Recovery
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Linearity
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References
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"Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease."
Hu Z.
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PubMed ]
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Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2);VARIANTS HHD THR-304; PRO-318; ARG-641; ARG-645; MET-709 AND ARG-744
2.
"Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump."
Sudbrak R.
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Hum. Mol. Genet.9:1131-1140(2000)
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PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4);VARIANTS HHD LEU-201; TYR-344 AND ILE-570
tissue :
Keratinocyte .
3.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 5 AND 6);SUBCELLULAR LOCATION;MUTAGENESIS
tissue :
Keratinocyte .
4.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
tissue :
Brain .
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[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 6; 7 AND 8);NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 360-919 (ISOFORM 1)
tissue :
Mammary gland .
tissue :
Neuron .
tissue :
Thalamus .
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"The DNA sequence, annotation and analysis of human chromosome 3."
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Nature440:1194-1198(2006)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
7.
Mural R.J.
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Istrail S.
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,
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more...
Submitted (2005-09) to the EMBL/GenBank/DDBJ databases
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
8.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2)
tissue :
Blood .
9.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] OF 424-919
10.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue :
Cervix carcinoma .
11.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
12.
"Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene."
Dobson-Stone C.
,
Fairclough R.
,
Dunne E.
,
Brown J.
,
Dissanayake M.
,
Munro C.S.
,
Strachan T.
,
Burge S.
,
Sudbrak R.
,
Monaco A.P.
,
Hovnanian A.
J. Invest. Dermatol.118:338-343(2002)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS HHD CYS-309; PRO-341; ARG-411; VAL-580; TYR-742 AND ARG-789
13.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS HHD PHE-490 AND PRO-584