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P98194

- AT2C1_HUMAN

UniProt

P98194 - AT2C1_HUMAN

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
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    • History
      Entry version 155 (01 Oct 2014)
      Sequence version 3 (21 Jun 2005)
      Previous versions | rss
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    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

    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

    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

    ArrayExpressiP98194.
    BgeeiP98194.
    CleanExiHS_ATP2C1.
    GenevestigatoriP98194.

    Organism-specific databases

    HPAiCAB010207.
    HPA035116.
    HPA053533.

    Interactioni

    Protein-protein interaction databases

    BioGridi117963. 3 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.
    HOVERGENiHBG106478.
    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

    MKVARFQKIP NGENETMIPV LTSKKASELP VSEVASILQA DLQNGLNKCE    50
    VSHRRAFHGW NEFDISEDEP LWKKYISQFK NPLIMLLLAS AVISVLMHQF 100
    DDAVSITVAI LIVVTVAFVQ EYRSEKSLEE LSKLVPPECH CVREGKLEHT 150
    LARDLVPGDT VCLSVGDRVP ADLRLFEAVD LSIDESSLTG ETTPCSKVTA 200
    PQPAATNGDL ASRSNIAFMG TLVRCGKAKG VVIGTGENSE FGEVFKMMQA 250
    EEAPKTPLQK SMDLLGKQLS FYSFGIIGII MLVGWLLGKD ILEMFTISVS 300
    LAVAAIPEGL PIVVTVTLAL GVMRMVKKRA IVKKLPIVET LGCCNVICSD 350
    KTGTLTKNEM TVTHIFTSDG LHAEVTGVGY NQFGEVIVDG DVVHGFYNPA 400
    VSRIVEAGCV CNDAVIRNNT LMGKPTEGAL IALAMKMGLD GLQQDYIRKA 450
    EYPFSSEQKW MAVKCVHRTQ QDRPEICFMK GAYEQVIKYC TTYQSKGQTL 500
    TLTQQQRDVY QQEKARMGSA GLRVLALASG PELGQLTFLG LVGIIDPPRT 550
    GVKEAVTTLI ASGVSIKMIT GDSQETAVAI ASRLGLYSKT SQSVSGEEID 600
    AMDVQQLSQI VPKVAVFYRA SPRHKMKIIK SLQKNGSVVA MTGDGVNDAV 650
    ALKAADIGVA MGQTGTDVCK EAADMILVDD DFQTIMSAIE EGKGIYNNIK 700
    NFVRFQLSTS IAALTLISLA TLMNFPNPLN AMQILWINII MDGPPAQSLG 750
    VEPVDKDVIR KPPRNWKDSI LTKNLILKIL VSSIIIVCGT LFVFWRELRD 800
    NVITPRDTTM TFTCFVFFDM FNALSSRSQT KSVFEIGLCS NRMFCYAVLG 850
    SIMGQLLVIY FPPLQKVFQT ESLSILDLLF LLGLTSSVCI VAEIIKKVER 900
    SREKIQKHVS STSSSFLEV 919
    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.
    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.
    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.
    XP_005247413.1. XM_005247356.1.
    XP_005247414.1. XM_005247357.1. [P98194-5]
    XP_006713648.1. XM_006713585.1.
    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]
    ENST00000504948; ENSP00000423330; ENSG00000017260. [P98194-4]
    ENST00000505330; ENSP00000423774; ENSG00000017260. [P98194-4]
    ENST00000507488; ENSP00000421326; ENSG00000017260. [P98194-3]
    ENST00000508532; ENSP00000424783; ENSG00000017260. [P98194-1]
    ENST00000510168; ENSP00000427461; ENSG00000017260. [P98194-1]
    ENST00000513801; ENSP00000422872; ENSG00000017260. [P98194-3]
    ENST00000533801; ENSP00000432956; ENSG00000017260. [P98194-8]
    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.
    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.
    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.
    XP_005247413.1. XM_005247356.1.
    XP_005247414.1. XM_005247357.1. [P98194-5 ]
    XP_006713648.1. XM_006713585.1.
    UniGenei Hs.584884.

    3D structure databases

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

    Protein-protein interaction databases

    BioGridi 117963. 3 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 ]
    ENST00000504948 ; ENSP00000423330 ; ENSG00000017260 . [P98194-4 ]
    ENST00000505330 ; ENSP00000423774 ; ENSG00000017260 . [P98194-4 ]
    ENST00000507488 ; ENSP00000421326 ; ENSG00000017260 . [P98194-3 ]
    ENST00000508532 ; ENSP00000424783 ; ENSG00000017260 . [P98194-1 ]
    ENST00000510168 ; ENSP00000427461 ; ENSG00000017260 . [P98194-1 ]
    ENST00000513801 ; ENSP00000422872 ; ENSG00000017260 . [P98194-3 ]
    ENST00000533801 ; ENSP00000432956 ; ENSG00000017260 . [P98194-8 ]
    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 GC03P130613.
    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.
    HOVERGENi HBG106478.
    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

    ArrayExpressi P98194.
    Bgeei P98194.
    CleanExi HS_ATP2C1.
    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

    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 1, 2014
    This is version 155 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