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P98194

- AT2C1_HUMAN

UniProt

P98194 - AT2C1_HUMAN

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Protein

Calcium-transporting ATPase type 2C member 1

Gene

ATP2C1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium.

Catalytic activityi

ATP + H2O + Ca2+(Side 1) = ADP + phosphate + Ca2+(Side 2).

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi303 – 3031Calcium 2; via carbonyl oxygenBy similarity
Metal bindingi304 – 3041Calcium 2; via carbonyl oxygenBy similarity
Metal bindingi306 – 3061Calcium 2; via carbonyl oxygenBy similarity
Metal bindingi308 – 3081Calcium 2By similarity
Active sitei350 – 35014-aspartylphosphate intermediateBy similarity
Metal bindingi644 – 6441MagnesiumBy similarity
Metal bindingi648 – 6481MagnesiumBy similarity
Metal bindingi738 – 7381Calcium 2By similarity
Metal bindingi742 – 7421Calcium 2By similarity

GO - Molecular functioni

  1. ATP binding Source: UniProtKB
  2. calcium ion binding Source: UniProtKB
  3. calcium-transporting ATPase activity Source: UniProtKB
  4. manganese ion binding Source: UniProtKB
  5. manganese-transporting ATPase activity Source: UniProtKB
  6. metal ion binding Source: UniProtKB-KW
  7. signal transducer activity Source: UniProtKB

GO - Biological processi

  1. actin cytoskeleton reorganization Source: UniProtKB
  2. calcium-dependent cell-cell adhesion Source: UniProtKB
  3. calcium ion transmembrane transport Source: GOC
  4. calcium ion transport Source: UniProtKB
  5. cellular calcium ion homeostasis Source: UniProtKB
  6. cellular manganese ion homeostasis Source: UniProtKB
  7. epidermis development Source: UniProtKB
  8. Golgi calcium ion homeostasis Source: UniProtKB
  9. Golgi calcium ion transport Source: UniProtKB
  10. ion transmembrane transport Source: Reactome
  11. manganese ion transmembrane transport Source: GOC
  12. manganese ion transport Source: UniProtKB
  13. positive regulation of I-kappaB kinase/NF-kappaB signaling Source: UniProtKB
  14. signal transduction Source: GOC
  15. transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Calcium transport, Ion transport, Transport

Keywords - Ligandi

ATP-binding, Calcium, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi3.6.3.8. 2681.
ReactomeiREACT_25149. Ion transport by P-type ATPases.

Protein family/group databases

TCDBi3.A.3.2.5. the p-type atpase (p-atpase) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
Calcium-transporting ATPase type 2C member 1 (EC:3.6.3.8)
Short name:
ATPase 2C1
Alternative name(s):
ATP-dependent Ca(2+) pump PMR1
Gene namesi
Name:ATP2C1
Synonyms:KIAA1347, PMR1L
ORF Names:HUSSY-28
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:13211. ATP2C1.

Subcellular locationi

Golgi apparatus membrane 1 Publication; Multi-pass membrane protein 1 Publication

GO - Cellular componenti

  1. Golgi apparatus Source: UniProtKB
  2. Golgi membrane Source: UniProtKB
  3. integral component of membrane Source: UniProtKB
  4. membrane Source: UniProtKB
  5. trans-Golgi network Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Hailey-Hailey disease (HHD) [MIM:169600]: Autosomal dominant disorder characterized by persistent blisters and suprabasal cell separation (acantholysis) of the epidermis, due to impaired keratinocyte adhesion. Patients lacking all isoforms except isoform 2 have HHD.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti201 – 2011P → L in HHD. 1 Publication
VAR_010130
Natural varianti304 – 3041A → T in HHD. 1 Publication
VAR_008803
Natural varianti309 – 3091G → C in HHD; unable to bind manganese, reduced affinity for calcium. 1 Publication
VAR_022672
Natural varianti318 – 3181L → P in HHD. 1 Publication
VAR_008804
Natural varianti341 – 3411L → P in HHD; unstable protein. 1 Publication
VAR_022673
Natural varianti344 – 3441C → Y in HHD; unstable protein. 1 Publication
VAR_010131
Natural varianti411 – 4111C → R in HHD; unstable protein. 1 Publication
VAR_022674
Natural varianti490 – 4901C → F in HHD. 1 Publication
VAR_019523
Natural varianti570 – 5701T → I in HHD; unstable protein. 1 Publication
VAR_010132
Natural varianti580 – 5801I → V in HHD; unable to undergo conformational change necessary for ion transport. 1 Publication
VAR_022675
Natural varianti584 – 5841L → P in HHD. 1 Publication
VAR_019524
Natural varianti641 – 6411M → R in HHD. 1 Publication
VAR_008805
Natural varianti645 – 6451G → R in HHD. 1 Publication
VAR_008806
Natural varianti709 – 7091T → M in HHD. 1 Publication
VAR_008807
Natural varianti742 – 7421D → Y in HHD; unable to bind calcium or manganese. 1 Publication
VAR_022676
Natural varianti744 – 7441P → R in HHD. 1 Publication
VAR_008808
Natural varianti789 – 7891G → R in HHD; unstable protein. 1 Publication
VAR_022677

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi169600. phenotype.
Orphaneti2841. Familial benign chronic pemphigus.
PharmGKBiPA25111.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 919919Calcium-transporting ATPase type 2C member 1PRO_0000046223Add
BLAST

Proteomic databases

MaxQBiP98194.
PaxDbiP98194.
PRIDEiP98194.

PTM databases

PhosphoSiteiP98194.

Expressioni

Tissue specificityi

Found in most tissues except colon, thymus, spleen and leukocytes. Most abundant in keratinocytes and kidney.

Gene expression databases

BgeeiP98194.
CleanExiHS_ATP2C1.
ExpressionAtlasiP98194. baseline and differential.
GenevestigatoriP98194.

Organism-specific databases

HPAiCAB010207.
HPA035116.
HPA053533.

Interactioni

Protein-protein interaction databases

BioGridi117963. 8 interactions.
IntActiP98194. 1 interaction.
STRINGi9606.ENSP00000352665.

Structurei

3D structure databases

ProteinModelPortaliP98194.
SMRiP98194. Positions 45-901.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 7070CytoplasmicBy similarityAdd
BLAST
Topological domaini92 – 10413LumenalBy similarityAdd
BLAST
Topological domaini124 – 262139CytoplasmicBy similarityAdd
BLAST
Topological domaini283 – 29412LumenalBy similarityAdd
BLAST
Topological domaini313 – 699387CytoplasmicBy similarityAdd
BLAST
Topological domaini720 – 72910LumenalBy similarity
Topological domaini751 – 77020CytoplasmicBy similarityAdd
BLAST
Topological domaini794 – 80815LumenalBy similarityAdd
BLAST
Topological domaini829 – 84113CytoplasmicBy similarityAdd
BLAST
Topological domaini861 – 87515LumenalBy similarityAdd
BLAST
Topological domaini897 – 91923CytoplasmicBy similarityAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei71 – 9121Helical; Name=1By similarityAdd
BLAST
Transmembranei105 – 12319Helical; Name=2By similarityAdd
BLAST
Transmembranei263 – 28220Helical; Name=3By similarityAdd
BLAST
Transmembranei295 – 31218Helical; Name=4By similarityAdd
BLAST
Transmembranei700 – 71920Helical; Name=5By similarityAdd
BLAST
Transmembranei730 – 75021Helical; Name=6By similarityAdd
BLAST
Transmembranei771 – 79323Helical; Name=7By similarityAdd
BLAST
Transmembranei809 – 82820Helical; Name=8By similarityAdd
BLAST
Transmembranei842 – 86019Helical; Name=9By similarityAdd
BLAST
Transmembranei876 – 89621Helical; Name=10By similarityAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0474.
GeneTreeiENSGT00760000119003.
HOVERGENiHBG106478.
InParanoidiP98194.
KOiK01537.
OMAiHRTQQDK.
OrthoDBiEOG7F7W81.
PhylomeDBiP98194.
TreeFamiTF354251.

Family and domain databases

Gene3Di1.20.1110.10. 3 hits.
InterProiIPR006413. ATPase_P-typ_Ca-transp_PMR1.
IPR006068. ATPase_P-typ_cation-transptr_C.
IPR004014. ATPase_P-typ_cation-transptr_N.
IPR018303. ATPase_P-typ_P_site.
IPR023298. ATPase_P-typ_TM_dom.
IPR008250. ATPase_P-typ_transduc_dom_A.
IPR001757. Cation_transp_P_typ_ATPase.
IPR023214. HAD-like_dom.
[Graphical view]
PfamiPF00689. Cation_ATPase_C. 1 hit.
PF00690. Cation_ATPase_N. 1 hit.
PF00122. E1-E2_ATPase. 1 hit.
PF00702. Hydrolase. 1 hit.
[Graphical view]
PRINTSiPR00119. CATATPASE.
PR00120. HATPASE.
SMARTiSM00831. Cation_ATPase_N. 1 hit.
[Graphical view]
SUPFAMiSSF56784. SSF56784. 2 hits.
TIGRFAMsiTIGR01522. ATPase-IIA2_Ca. 1 hit.
TIGR01494. ATPase_P-type. 3 hits.
PROSITEiPS00154. ATPASE_E1_E2. 1 hit.
[Graphical view]

Sequences (9)i

Sequence statusi: Complete.

This entry describes 9 isoformsi produced by alternative splicing. Align

Note: Isoform 1 and isoform 2 are expressed in the same tissues.

Isoform 1 (identifier: P98194-1) [UniParc]FASTAAdd to Basket

Also known as: ATP2C1A

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MKVARFQKIP NGENETMIPV LTSKKASELP VSEVASILQA DLQNGLNKCE
60 70 80 90 100
VSHRRAFHGW NEFDISEDEP LWKKYISQFK NPLIMLLLAS AVISVLMHQF
110 120 130 140 150
DDAVSITVAI LIVVTVAFVQ EYRSEKSLEE LSKLVPPECH CVREGKLEHT
160 170 180 190 200
LARDLVPGDT VCLSVGDRVP ADLRLFEAVD LSIDESSLTG ETTPCSKVTA
210 220 230 240 250
PQPAATNGDL ASRSNIAFMG TLVRCGKAKG VVIGTGENSE FGEVFKMMQA
260 270 280 290 300
EEAPKTPLQK SMDLLGKQLS FYSFGIIGII MLVGWLLGKD ILEMFTISVS
310 320 330 340 350
LAVAAIPEGL PIVVTVTLAL GVMRMVKKRA IVKKLPIVET LGCCNVICSD
360 370 380 390 400
KTGTLTKNEM TVTHIFTSDG LHAEVTGVGY NQFGEVIVDG DVVHGFYNPA
410 420 430 440 450
VSRIVEAGCV CNDAVIRNNT LMGKPTEGAL IALAMKMGLD GLQQDYIRKA
460 470 480 490 500
EYPFSSEQKW MAVKCVHRTQ QDRPEICFMK GAYEQVIKYC TTYQSKGQTL
510 520 530 540 550
TLTQQQRDVY QQEKARMGSA GLRVLALASG PELGQLTFLG LVGIIDPPRT
560 570 580 590 600
GVKEAVTTLI ASGVSIKMIT GDSQETAVAI ASRLGLYSKT SQSVSGEEID
610 620 630 640 650
AMDVQQLSQI VPKVAVFYRA SPRHKMKIIK SLQKNGSVVA MTGDGVNDAV
660 670 680 690 700
ALKAADIGVA MGQTGTDVCK EAADMILVDD DFQTIMSAIE EGKGIYNNIK
710 720 730 740 750
NFVRFQLSTS IAALTLISLA TLMNFPNPLN AMQILWINII MDGPPAQSLG
760 770 780 790 800
VEPVDKDVIR KPPRNWKDSI LTKNLILKIL VSSIIIVCGT LFVFWRELRD
810 820 830 840 850
NVITPRDTTM TFTCFVFFDM FNALSSRSQT KSVFEIGLCS NRMFCYAVLG
860 870 880 890 900
SIMGQLLVIY FPPLQKVFQT ESLSILDLLF LLGLTSSVCI VAEIIKKVER
910
SREKIQKHVS STSSSFLEV
Length:919
Mass (Da):100,577
Last modified:June 21, 2005 - v3
Checksum:i4C1495D58FDA7EA1
GO
Isoform 2 (identifier: P98194-2) [UniParc]FASTAAdd to Basket

Also known as: ATP2C1B, ATP2C1C

The sequence of this isoform differs from the canonical sequence as follows:
     877-919: DLLFLLGLTSSVCIVAEIIKKVERSREKIQKHVSSTSSSFLEV → GLALGEEWTAAG

Show »
Length:888
Mass (Da):96,960
Checksum:i27E2B0E13378BB98
GO
Isoform 3 (identifier: P98194-3) [UniParc]FASTAAdd to Basket

Also known as: ATP2C1B

The sequence of this isoform differs from the canonical sequence as follows:
     1-16: Missing.
     910-919: SSTSSSFLEV → WLWERSGQQLVEIHPHLETGLPLTEDVSCV

Show »
Length:923
Mass (Da):101,163
Checksum:iA7962E652B936D76
GO
Isoform 4 (identifier: P98194-4) [UniParc]FASTAAdd to Basket

Also known as: ATP2C1A

The sequence of this isoform differs from the canonical sequence as follows:
     1-16: Missing.

Show »
Length:903
Mass (Da):98,733
Checksum:iD15118E067B15ED4
GO
Isoform 5 (identifier: P98194-5) [UniParc]FASTAAdd to Basket

Also known as: ATP2C1B

The sequence of this isoform differs from the canonical sequence as follows:
     910-919: SSTSSSFLEV → WLWERSGQQLVEIHPHLETGLPLTEDVSCV

Show »
Length:939
Mass (Da):103,007
Checksum:iE6B6914D20DFD0B7
GO
Isoform 6 (identifier: P98194-6) [UniParc]FASTAAdd to Basket

Also known as: ATP2C1D

The sequence of this isoform differs from the canonical sequence as follows:
     919-919: V → VSSTSSSFLEVWLWERSGQQLVEIHPHLETGLPLTEDVSCV

Show »
Length:959
Mass (Da):105,057
Checksum:iC25B54ABDE014607
GO
Isoform 7 (identifier: P98194-7) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-2: MK → MDSLLPPSRFSYFKKYPLHAIRRYLSTLRNQRAEEQ
     910-919: SSTSSSFLEV → WLWERSGQQLVEIHPHLETGLPLTEDVSCV

Note: No experimental confirmation available.

Show »
Length:973
Mass (Da):107,143
Checksum:i0AC81DFDBA5DAB98
GO
Isoform 8 (identifier: P98194-8) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-2: MK → MDSLLPPSRFSYFKKYPLHAIRRYLSTLRNQRAEEQ
     39-77: Missing.
     919-919: V → VWLWERSGQQLVEIHPHLETGLPLTEDVSCV

Note: No experimental confirmation available.

Show »
Length:944
Mass (Da):103,524
Checksum:i16F4A201591E4EA8
GO
Isoform 9 (identifier: P98194-9) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     919-919: V → VWLWERSGQQLVEIHPHLETGLPLTEDVSCV

Note: No experimental confirmation available.

Show »
Length:949
Mass (Da):104,032
Checksum:iDA7EBA526743BEDF
GO

Sequence cautioni

The sequence BAA92585.1 differs from that shown. Reason: Frameshift at position 8.
The sequence BAC11142.1 differs from that shown. Reason: Erroneous initiation.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti62 – 621E → K in AAF26295. (PubMed:10615129)Curated
Sequence conflicti62 – 621E → K in AAF26296. (PubMed:10615129)Curated
Sequence conflicti112 – 1121I → F in AAF35375. (PubMed:10767338)Curated
Sequence conflicti150 – 1501T → I in BAC11142. (PubMed:14702039)Curated
Sequence conflicti346 – 3461V → A in BAH12365. (PubMed:14702039)Curated
Sequence conflicti373 – 3731A → T in AAF26295. (PubMed:10615129)Curated
Sequence conflicti373 – 3731A → T in AAF26296. (PubMed:10615129)Curated
Sequence conflicti516 – 5161R → H in CAA09425. (PubMed:11124703)Curated
Sequence conflicti713 – 7131A → T in BAC11142. (PubMed:14702039)Curated
Sequence conflicti868 – 8681F → L in BAG61775. (PubMed:14702039)Curated
Sequence conflicti901 – 9011S → G in BAC11142. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti201 – 2011P → L in HHD. 1 Publication
VAR_010130
Natural varianti304 – 3041A → T in HHD. 1 Publication
VAR_008803
Natural varianti309 – 3091G → C in HHD; unable to bind manganese, reduced affinity for calcium. 1 Publication
VAR_022672
Natural varianti318 – 3181L → P in HHD. 1 Publication
VAR_008804
Natural varianti341 – 3411L → P in HHD; unstable protein. 1 Publication
VAR_022673
Natural varianti344 – 3441C → Y in HHD; unstable protein. 1 Publication
VAR_010131
Natural varianti411 – 4111C → R in HHD; unstable protein. 1 Publication
VAR_022674
Natural varianti450 – 4501A → T.
Corresponds to variant rs41434650 [ dbSNP | Ensembl ].
VAR_048373
Natural varianti490 – 4901C → F in HHD. 1 Publication
VAR_019523
Natural varianti570 – 5701T → I in HHD; unstable protein. 1 Publication
VAR_010132
Natural varianti580 – 5801I → V in HHD; unable to undergo conformational change necessary for ion transport. 1 Publication
VAR_022675
Natural varianti584 – 5841L → P in HHD. 1 Publication
VAR_019524
Natural varianti641 – 6411M → R in HHD. 1 Publication
VAR_008805
Natural varianti645 – 6451G → R in HHD. 1 Publication
VAR_008806
Natural varianti709 – 7091T → M in HHD. 1 Publication
VAR_008807
Natural varianti742 – 7421D → Y in HHD; unable to bind calcium or manganese. 1 Publication
VAR_022676
Natural varianti744 – 7441P → R in HHD. 1 Publication
VAR_008808
Natural varianti789 – 7891G → R in HHD; unstable protein. 1 Publication
VAR_022677

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1616Missing in isoform 3 and isoform 4. 1 PublicationVSP_000408Add
BLAST
Alternative sequencei1 – 22MK → MDSLLPPSRFSYFKKYPLHA IRRYLSTLRNQRAEEQ in isoform 7 and isoform 8. 1 PublicationVSP_045892
Alternative sequencei39 – 7739Missing in isoform 8. 1 PublicationVSP_055036Add
BLAST
Alternative sequencei877 – 91943DLLFL…SFLEV → GLALGEEWTAAG in isoform 2. 2 PublicationsVSP_000409Add
BLAST
Alternative sequencei910 – 91910SSTSSSFLEV → WLWERSGQQLVEIHPHLETG LPLTEDVSCV in isoform 3, isoform 5 and isoform 7. 3 PublicationsVSP_000410
Alternative sequencei919 – 9191V → VSSTSSSFLEVWLWERSGQQ LVEIHPHLETGLPLTEDVSC V in isoform 6. 2 PublicationsVSP_014102
Alternative sequencei919 – 9191V → VWLWERSGQQLVEIHPHLET GLPLTEDVSCV in isoform 9 and isoform 8. 1 PublicationVSP_055037

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF181120 mRNA. Translation: AAF26295.1.
AF181121 mRNA. Translation: AAF26296.1.
AF189723 mRNA. Translation: AAF27813.2.
AF225981 mRNA. Translation: AAF35375.1.
AY268374 mRNA. Translation: AAP30008.1.
AY268375 mRNA. Translation: AAP30009.1.
AB037768 mRNA. Translation: BAA92585.1. Frameshift.
AK001684 mRNA. Translation: BAA91835.1.
AK074692 mRNA. Translation: BAC11142.1. Different initiation.
AK296470 mRNA. Translation: BAH12365.1.
AK299945 mRNA. Translation: BAG61775.1.
AK314342 mRNA. Translation: BAG36984.1.
AC055733 Genomic DNA. No translation available.
AC097105 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW79218.1.
CH471052 Genomic DNA. Translation: EAW79219.1.
BC028139 mRNA. Translation: AAH28139.1.
AJ010953 mRNA. Translation: CAA09425.1.
CCDSiCCDS33856.1. [P98194-9]
CCDS46912.1. [P98194-5]
CCDS46913.1. [P98194-2]
CCDS46914.1. [P98194-1]
CCDS56278.1. [P98194-7]
CCDS56279.1. [P98194-8]
CCDS56280.1. [P98194-3]
CCDS56281.1. [P98194-4]
RefSeqiNP_001001485.1. NM_001001485.2. [P98194-2]
NP_001001486.1. NM_001001486.1. [P98194-9]
NP_001001487.1. NM_001001487.1. [P98194-5]
NP_001186108.1. NM_001199179.1. [P98194-1]
NP_001186109.1. NM_001199180.1. [P98194-7]
NP_001186110.1. NM_001199181.1.
NP_001186111.1. NM_001199182.1. [P98194-8]
NP_001186112.1. NM_001199183.1. [P98194-3]
NP_001186113.1. NM_001199184.1. [P98194-4]
NP_001186114.1. NM_001199185.1. [P98194-2]
NP_055197.2. NM_014382.3. [P98194-1]
XP_005247412.1. XM_005247355.1. [P98194-9]
XP_005247413.1. XM_005247356.1. [P98194-9]
XP_005247414.1. XM_005247357.1. [P98194-5]
XP_006713648.1. XM_006713585.1. [P98194-9]
UniGeneiHs.584884.

Genome annotation databases

EnsembliENST00000328560; ENSP00000329664; ENSG00000017260. [P98194-2]
ENST00000359644; ENSP00000352665; ENSG00000017260. [P98194-9]
ENST00000422190; ENSP00000402677; ENSG00000017260. [P98194-5]
ENST00000428331; ENSP00000395809; ENSG00000017260. [P98194-1]
ENST00000504381; ENSP00000425320; ENSG00000017260. [P98194-8]
ENST00000504948; ENSP00000423330; ENSG00000017260. [P98194-4]
ENST00000507488; ENSP00000421326; ENSG00000017260. [P98194-7]
ENST00000508532; ENSP00000424783; ENSG00000017260. [P98194-1]
ENST00000510168; ENSP00000427461; ENSG00000017260. [P98194-1]
ENST00000513801; ENSP00000422872; ENSG00000017260. [P98194-3]
ENST00000533801; ENSP00000432956; ENSG00000017260. [P98194-2]
GeneIDi27032.
KEGGihsa:27032.
UCSCiuc003enk.3. human. [P98194-1]
uc003enm.3. human. [P98194-2]
uc003enn.3. human. [P98194-3]
uc003ent.3. human. [P98194-5]
uc011bli.2. human.

Polymorphism databases

DMDMi68068024.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF181120 mRNA. Translation: AAF26295.1 .
AF181121 mRNA. Translation: AAF26296.1 .
AF189723 mRNA. Translation: AAF27813.2 .
AF225981 mRNA. Translation: AAF35375.1 .
AY268374 mRNA. Translation: AAP30008.1 .
AY268375 mRNA. Translation: AAP30009.1 .
AB037768 mRNA. Translation: BAA92585.1 . Frameshift.
AK001684 mRNA. Translation: BAA91835.1 .
AK074692 mRNA. Translation: BAC11142.1 . Different initiation.
AK296470 mRNA. Translation: BAH12365.1 .
AK299945 mRNA. Translation: BAG61775.1 .
AK314342 mRNA. Translation: BAG36984.1 .
AC055733 Genomic DNA. No translation available.
AC097105 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW79218.1 .
CH471052 Genomic DNA. Translation: EAW79219.1 .
BC028139 mRNA. Translation: AAH28139.1 .
AJ010953 mRNA. Translation: CAA09425.1 .
CCDSi CCDS33856.1. [P98194-9 ]
CCDS46912.1. [P98194-5 ]
CCDS46913.1. [P98194-2 ]
CCDS46914.1. [P98194-1 ]
CCDS56278.1. [P98194-7 ]
CCDS56279.1. [P98194-8 ]
CCDS56280.1. [P98194-3 ]
CCDS56281.1. [P98194-4 ]
RefSeqi NP_001001485.1. NM_001001485.2. [P98194-2 ]
NP_001001486.1. NM_001001486.1. [P98194-9 ]
NP_001001487.1. NM_001001487.1. [P98194-5 ]
NP_001186108.1. NM_001199179.1. [P98194-1 ]
NP_001186109.1. NM_001199180.1. [P98194-7 ]
NP_001186110.1. NM_001199181.1.
NP_001186111.1. NM_001199182.1. [P98194-8 ]
NP_001186112.1. NM_001199183.1. [P98194-3 ]
NP_001186113.1. NM_001199184.1. [P98194-4 ]
NP_001186114.1. NM_001199185.1. [P98194-2 ]
NP_055197.2. NM_014382.3. [P98194-1 ]
XP_005247412.1. XM_005247355.1. [P98194-9 ]
XP_005247413.1. XM_005247356.1. [P98194-9 ]
XP_005247414.1. XM_005247357.1. [P98194-5 ]
XP_006713648.1. XM_006713585.1. [P98194-9 ]
UniGenei Hs.584884.

3D structure databases

ProteinModelPortali P98194.
SMRi P98194. Positions 45-901.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117963. 8 interactions.
IntActi P98194. 1 interaction.
STRINGi 9606.ENSP00000352665.

Chemistry

DrugBanki DB01189. Desflurane.
DB00228. Enflurane.
DB01159. Halothane.
DB00753. Isoflurane.
DB01028. Methoxyflurane.
DB01236. Sevoflurane.

Protein family/group databases

TCDBi 3.A.3.2.5. the p-type atpase (p-atpase) superfamily.

PTM databases

PhosphoSitei P98194.

Polymorphism databases

DMDMi 68068024.

Proteomic databases

MaxQBi P98194.
PaxDbi P98194.
PRIDEi P98194.

Protocols and materials databases

DNASUi 27032.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000328560 ; ENSP00000329664 ; ENSG00000017260 . [P98194-2 ]
ENST00000359644 ; ENSP00000352665 ; ENSG00000017260 . [P98194-9 ]
ENST00000422190 ; ENSP00000402677 ; ENSG00000017260 . [P98194-5 ]
ENST00000428331 ; ENSP00000395809 ; ENSG00000017260 . [P98194-1 ]
ENST00000504381 ; ENSP00000425320 ; ENSG00000017260 . [P98194-8 ]
ENST00000504948 ; ENSP00000423330 ; ENSG00000017260 . [P98194-4 ]
ENST00000507488 ; ENSP00000421326 ; ENSG00000017260 . [P98194-7 ]
ENST00000508532 ; ENSP00000424783 ; ENSG00000017260 . [P98194-1 ]
ENST00000510168 ; ENSP00000427461 ; ENSG00000017260 . [P98194-1 ]
ENST00000513801 ; ENSP00000422872 ; ENSG00000017260 . [P98194-3 ]
ENST00000533801 ; ENSP00000432956 ; ENSG00000017260 . [P98194-2 ]
GeneIDi 27032.
KEGGi hsa:27032.
UCSCi uc003enk.3. human. [P98194-1 ]
uc003enm.3. human. [P98194-2 ]
uc003enn.3. human. [P98194-3 ]
uc003ent.3. human. [P98194-5 ]
uc011bli.2. human.

Organism-specific databases

CTDi 27032.
GeneCardsi GC03P130571.
HGNCi HGNC:13211. ATP2C1.
HPAi CAB010207.
HPA035116.
HPA053533.
MIMi 169600. phenotype.
604384. gene.
neXtProti NX_P98194.
Orphaneti 2841. Familial benign chronic pemphigus.
PharmGKBi PA25111.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0474.
GeneTreei ENSGT00760000119003.
HOVERGENi HBG106478.
InParanoidi P98194.
KOi K01537.
OMAi HRTQQDK.
OrthoDBi EOG7F7W81.
PhylomeDBi P98194.
TreeFami TF354251.

Enzyme and pathway databases

BRENDAi 3.6.3.8. 2681.
Reactomei REACT_25149. Ion transport by P-type ATPases.

Miscellaneous databases

ChiTaRSi ATP2C1. human.
GeneWikii ATP2C1.
GenomeRNAii 27032.
NextBioi 49568.
PROi P98194.
SOURCEi Search...

Gene expression databases

Bgeei P98194.
CleanExi HS_ATP2C1.
ExpressionAtlasi P98194. baseline and differential.
Genevestigatori P98194.

Family and domain databases

Gene3Di 1.20.1110.10. 3 hits.
InterProi IPR006413. ATPase_P-typ_Ca-transp_PMR1.
IPR006068. ATPase_P-typ_cation-transptr_C.
IPR004014. ATPase_P-typ_cation-transptr_N.
IPR018303. ATPase_P-typ_P_site.
IPR023298. ATPase_P-typ_TM_dom.
IPR008250. ATPase_P-typ_transduc_dom_A.
IPR001757. Cation_transp_P_typ_ATPase.
IPR023214. HAD-like_dom.
[Graphical view ]
Pfami PF00689. Cation_ATPase_C. 1 hit.
PF00690. Cation_ATPase_N. 1 hit.
PF00122. E1-E2_ATPase. 1 hit.
PF00702. Hydrolase. 1 hit.
[Graphical view ]
PRINTSi PR00119. CATATPASE.
PR00120. HATPASE.
SMARTi SM00831. Cation_ATPase_N. 1 hit.
[Graphical view ]
SUPFAMi SSF56784. SSF56784. 2 hits.
TIGRFAMsi TIGR01522. ATPase-IIA2_Ca. 1 hit.
TIGR01494. ATPase_P-type. 3 hits.
PROSITEi PS00154. ATPASE_E1_E2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease."
    Hu Z., Bonifas J.M., Beech J., Bench G., Shigihara T., Ogawa H., Ikeda S., Mauro T., Epstein E.H. Jr.
    Nat. Genet. 24:61-65(2000) [PubMed] [Europe PMC] [Abstract]
    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. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4), VARIANTS HHD LEU-201; TYR-344 AND ILE-570.
    Tissue: Keratinocyte.
  3. "Effect of Hailey-Hailey Disease mutations on the function of a new variant of human secretory pathway Ca2+/Mn2+-ATPase (hSPCA1)."
    Fairclough R.J., Dode L., Vanoevelen J., Andersen J.P., Missiaen L., Raeymaekers L., Wuytack F., Hovnanian A.
    J. Biol. Chem. 278:24721-24730(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 5 AND 6), SUBCELLULAR LOCATION, MUTAGENESIS.
    Tissue: Keratinocyte.
  4. "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
    DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    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, Neuron and Thalamus.
  6. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
    , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Blood.
  9. "Characterization of 16 novel human genes showing high similarity to yeast sequences."
    Stanchi F., Bertocco E., Toppo S., Dioguardi R., Simionati B., Cannata N., Zimbello R., Lanfranchi G., Valle G.
    Yeast 18:69-80(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 424-919.
  10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. 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]
    Cited for: VARIANTS HHD CYS-309; PRO-341; ARG-411; VAL-580; TYR-742 AND ARG-789.
  13. "Analysis of ATP2C1 gene mutation in 10 unrelated Japanese families with Hailey-Hailey disease."
    Yokota K., Yasukawa K., Shimizu H.
    J. Invest. Dermatol. 118:550-551(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HHD PHE-490 AND PRO-584.

Entry informationi

Entry nameiAT2C1_HUMAN
AccessioniPrimary (citable) accession number: P98194
Secondary accession number(s): B2RAT7
, B4DSW3, B7Z3X9, G3XAH8, G8JLN9, O76005, Q86V72, Q86V73, Q8N6V1, Q8NCJ7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: June 21, 2005
Last modified: October 29, 2014
This is version 156 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3