Reviewed, UniProtKB/Swiss-Prot P98194 (AT2C1_HUMAN)

Names and origin

Protein names

Recommended name:
    Calcium-transporting ATPase type 2C member 1
      Short name=ATPase 2C1
    EC=3.6.3.8
Alternative name(s):
    ATP-dependent Ca(2+) pump PMR1

Gene names

Name:	ATP2C1
Synonyms:	KIAA1347, PMR1L
ORF Names:	HUSSY-28

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	919 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium.
Catalytic activity	ATP + H2O + Ca2+(Cis) = ADP + phosphate + Ca2+(Trans).
Subcellular location	Golgi apparatus membrane; Multi-pass membrane protein. Ref.3
Tissue specificity	Found in most tissues except colon, thymus, spleen and leukocytes. Most abundant in keratinocytes and kidney.
Involvement in disease	Defects in ATP2C1 are the cause of Hailey-Hailey disease (HHD) [MIM:169600]; also known as benign familial pemphigus. HHD is an 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. Ref.1 Ref.2 Ref.9 Ref.10
Sequence similarities	Belongs to the cation transport ATPase (P-type) family. Type IIA subfamily.
Sequence caution	The sequence BAA92585.1 differs from that shown. Reason: Frameshift at position 8.

Ontologies

Keywords
Biological process	Calcium transport Ion transport Transport
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Domain	Transmembrane
Ligand	ATP-binding Calcium Magnesium Metal-binding Nucleotide-binding
Molecular function	Hydrolase
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	ATP biosynthetic process Inferred from electronic annotation. Source: InterPro Golgi calcium ion homeostasis Inferred from mutant phenotype. Source: UniProtKB Golgi calcium ion transport Inferred from mutant phenotype. Source: UniProtKB actin cytoskeleton reorganization Inferred from mutant phenotype. Source: UniProtKB calcium ion transport Ref.1 Inferred from direct assay. Source: UniProtKB calcium-dependent cell-cell adhesion Inferred from mutant phenotype. Source: UniProtKB cellular calcium ion homeostasis Ref.1 Inferred from direct assay. Source: UniProtKB cellular manganese ion homeostasis Inferred from direct assay. Source: UniProtKB epidermis development Ref.1 Inferred from mutant phenotype. Source: UniProtKB manganese ion transport Inferred from direct assay. Source: UniProtKB positive regulation of I-kappaB kinase/NF-kappaB cascade Inferred from mutant phenotype. Source: UniProtKB
Cellular component	Golgi apparatus Inferred from direct assay. Source: UniProtKB Golgi membrane Inferred from direct assay. Source: UniProtKB integral to membrane Ref.1 Non-traceable author statement. Source: UniProtKB trans-Golgi network Inferred from direct assay. Source: UniProtKB
Molecular function	ATP binding Inferred from direct assay. Source: UniProtKB calcium ion binding Inferred from direct assay. Source: UniProtKB calcium-transporting ATPase activity Ref.1 Inferred from direct assay. Source: UniProtKB magnesium ion binding Inferred from electronic annotation. Source: UniProtKB-KW manganese ion binding Inferred from direct assay. Source: UniProtKB manganese-transporting ATPase activity Inferred from direct assay. Source: UniProtKB signal transducer activity Inferred from mutant phenotype. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]

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

Isoform 1 (identifier: P98194-1)

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.

Isoform 2 (identifier: P98194-2)

Also known as: ATP2C1B; ATP2C1C;

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

Isoform 3 (identifier: P98194-3)

Also known as: ATP2C1B;

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

Isoform 4 (identifier: P98194-4)

Also known as: ATP2C1A;

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

Isoform 5 (identifier: P98194-5)

Also known as: ATP2C1B;

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

Isoform 6 (identifier: P98194-6)

Also known as: ATP2C1D;

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 919	919	Calcium-transporting ATPase type 2C member 1		PRO_0000046223
Regions
	Topological domain	1 – 70	70	Cytoplasmic By similarity
	Transmembrane	71 – 91	21	1 By similarity
	Topological domain	92 – 104	13	Lumenal By similarity
	Transmembrane	105 – 123	19	2 By similarity
	Topological domain	124 – 262	139	Cytoplasmic By similarity
	Transmembrane	263 – 282	20	3 By similarity
	Topological domain	283 – 294	12	Lumenal By similarity
	Transmembrane	295 – 312	18	4 By similarity
	Topological domain	313 – 699	387	Cytoplasmic By similarity
	Transmembrane	700 – 719	20	5 By similarity
	Topological domain	720 – 729	10	Lumenal By similarity
	Transmembrane	730 – 750	21	6 By similarity
	Topological domain	751 – 770	20	Cytoplasmic By similarity
	Transmembrane	771 – 793	23	7 By similarity
	Topological domain	794 – 808	15	Lumenal By similarity
	Transmembrane	809 – 828	20	8 By similarity
	Topological domain	829 – 841	13	Cytoplasmic By similarity
	Transmembrane	842 – 860	19	9 By similarity
	Topological domain	861 – 875	15	Lumenal By similarity
	Transmembrane	876 – 896	21	10 By similarity
	Topological domain	897 – 919	23	Cytoplasmic By similarity
Sites
	Active site	350	1	4-aspartylphosphate intermediate By similarity
	Metal binding	303	1	Calcium 2; via carbonyl oxygen By similarity
	Metal binding	304	1	Calcium 2; via carbonyl oxygen By similarity
	Metal binding	306	1	Calcium 2; via carbonyl oxygen By similarity
	Metal binding	308	1	Calcium 2 By similarity
	Metal binding	644	1	Magnesium By similarity
	Metal binding	648	1	Magnesium By similarity
	Metal binding	738	1	Calcium 2 By similarity
	Metal binding	742	1	Calcium 2 By similarity
Natural variations
	Alternative sequence	1 – 16	16	Missing in isoform 3 and isoform 4.		VSP_000408
	Alternative sequence	877 – 919	43	DLLFL…SFLEV → GLALGEEWTAAG in isoform 2.		VSP_000409
	Alternative sequence	910 – 919	10	SSTSSSFLEV → WLWERSGQQLVEIHPHLETG LPLTEDVSCV in isoform 3 and isoform 5.		VSP_000410
	Alternative sequence	919	1	V → VSSTSSSFLEVWLWERSGQQ LVEIHPHLETGLPLTEDVSC V in isoform 6.		VSP_014102
	Natural variant	201	1	P → L in HHD. Ref.2		VAR_010130
	Natural variant	304	1	A → T in HHD. Ref.1		VAR_008803
	Natural variant	309	1	G → C in HHD; unable to bind manganese, reduced affinity for calcium. Ref.9		VAR_022672
	Natural variant	318	1	L → P in HHD. Ref.1		VAR_008804
	Natural variant	341	1	L → P in HHD; unstable protein. Ref.9		VAR_022673
	Natural variant	344	1	C → Y in HDD; unstable protein. Ref.2		VAR_010131
	Natural variant	411	1	C → R in HDD; unstable protein. Ref.9		VAR_022674
	Natural variant	450	1	A → T: dbSNP rs41434650.		VAR_048373
	Natural variant	490	1	C → F in HHD. Ref.10		VAR_019523
	Natural variant	570	1	T → I in HDD; unstable protein. Ref.2		VAR_010132
	Natural variant	580	1	I → V in HDD; unable to undergo conformational change necessary for ion transport. Ref.9		VAR_022675
	Natural variant	584	1	L → P in HHD. Ref.10		VAR_019524
	Natural variant	641	1	M → R in HHD. Ref.1		VAR_008805
	Natural variant	645	1	G → R in HHD. Ref.1		VAR_008806
	Natural variant	709	1	T → M in HHD. Ref.1		VAR_008807
	Natural variant	742	1	D → Y in HDD; unable to bind calcium or manganese. Ref.9		VAR_022676
	Natural variant	744	1	P → R in HHD. Ref.1		VAR_008808
	Natural variant	789	1	G → R in HDD; unstable protein. Ref.9		VAR_022677
Experimental info
	Sequence conflict	62	1	E → K in AAF26295. Ref.1
	Sequence conflict	62	1	E → K in AAF26296. Ref.1
	Sequence conflict	112	1	I → F in AAF35375. Ref.2
	Sequence conflict	150	1	T → I in BAC11142. Ref.5
	Sequence conflict	373	1	A → T in AAF26295. Ref.1
	Sequence conflict	373	1	A → T in AAF26296. Ref.1
	Sequence conflict	516	1	R → H in CAA09425. Ref.8
	Sequence conflict	713	1	A → T in BAC11142. Ref.5
	Sequence conflict	901	1	S → G in BAC11142. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (ATP2C1A) [UniParc]. Last modified June 21, 2005. Version 3. Checksum: 4C1495D58FDA7EA1	FASTA	919	100,577
	10 20 30 40 50 60 MKVARFQKIP NGENETMIPV LTSKKASELP VSEVASILQA DLQNGLNKCE VSHRRAFHGW 70 80 90 100 110 120 NEFDISEDEP LWKKYISQFK NPLIMLLLAS AVISVLMHQF DDAVSITVAI LIVVTVAFVQ 130 140 150 160 170 180 EYRSEKSLEE LSKLVPPECH CVREGKLEHT LARDLVPGDT VCLSVGDRVP ADLRLFEAVD 190 200 210 220 230 240 LSIDESSLTG ETTPCSKVTA PQPAATNGDL ASRSNIAFMG TLVRCGKAKG VVIGTGENSE 250 260 270 280 290 300 FGEVFKMMQA EEAPKTPLQK SMDLLGKQLS FYSFGIIGII MLVGWLLGKD ILEMFTISVS 310 320 330 340 350 360 LAVAAIPEGL PIVVTVTLAL GVMRMVKKRA IVKKLPIVET LGCCNVICSD KTGTLTKNEM 370 380 390 400 410 420 TVTHIFTSDG LHAEVTGVGY NQFGEVIVDG DVVHGFYNPA VSRIVEAGCV CNDAVIRNNT 430 440 450 460 470 480 LMGKPTEGAL IALAMKMGLD GLQQDYIRKA EYPFSSEQKW MAVKCVHRTQ QDRPEICFMK 490 500 510 520 530 540 GAYEQVIKYC TTYQSKGQTL TLTQQQRDVY QQEKARMGSA GLRVLALASG PELGQLTFLG 550 560 570 580 590 600 LVGIIDPPRT GVKEAVTTLI ASGVSIKMIT GDSQETAVAI ASRLGLYSKT SQSVSGEEID 610 620 630 640 650 660 AMDVQQLSQI VPKVAVFYRA SPRHKMKIIK SLQKNGSVVA MTGDGVNDAV ALKAADIGVA 670 680 690 700 710 720 MGQTGTDVCK EAADMILVDD DFQTIMSAIE EGKGIYNNIK NFVRFQLSTS IAALTLISLA 730 740 750 760 770 780 TLMNFPNPLN AMQILWINII MDGPPAQSLG VEPVDKDVIR KPPRNWKDSI LTKNLILKIL 790 800 810 820 830 840 VSSIIIVCGT LFVFWRELRD NVITPRDTTM TFTCFVFFDM FNALSSRSQT KSVFEIGLCS 850 860 870 880 890 900 NRMFCYAVLG SIMGQLLVIY FPPLQKVFQT ESLSILDLLF LLGLTSSVCI VAEIIKKVER 910 SREKIQKHVS STSSSFLEV
	Isoform 2 (ATP2C1B) (ATP2C1C). Checksum: 27E2B0E13378BB98	FASTA	888	96,960
	10 20 30 40 50 60 MKVARFQKIP NGENETMIPV LTSKKASELP VSEVASILQA DLQNGLNKCE VSHRRAFHGW 70 80 90 100 110 120 NEFDISEDEP LWKKYISQFK NPLIMLLLAS AVISVLMHQF DDAVSITVAI LIVVTVAFVQ 130 140 150 160 170 180 EYRSEKSLEE LSKLVPPECH CVREGKLEHT LARDLVPGDT VCLSVGDRVP ADLRLFEAVD 190 200 210 220 230 240 LSIDESSLTG ETTPCSKVTA PQPAATNGDL ASRSNIAFMG TLVRCGKAKG VVIGTGENSE 250 260 270 280 290 300 FGEVFKMMQA EEAPKTPLQK SMDLLGKQLS FYSFGIIGII MLVGWLLGKD ILEMFTISVS 310 320 330 340 350 360 LAVAAIPEGL PIVVTVTLAL GVMRMVKKRA IVKKLPIVET LGCCNVICSD KTGTLTKNEM 370 380 390 400 410 420 TVTHIFTSDG LHAEVTGVGY NQFGEVIVDG DVVHGFYNPA VSRIVEAGCV CNDAVIRNNT 430 440 450 460 470 480 LMGKPTEGAL IALAMKMGLD GLQQDYIRKA EYPFSSEQKW MAVKCVHRTQ QDRPEICFMK 490 500 510 520 530 540 GAYEQVIKYC TTYQSKGQTL TLTQQQRDVY QQEKARMGSA GLRVLALASG PELGQLTFLG 550 560 570 580 590 600 LVGIIDPPRT GVKEAVTTLI ASGVSIKMIT GDSQETAVAI ASRLGLYSKT SQSVSGEEID 610 620 630 640 650 660 AMDVQQLSQI VPKVAVFYRA SPRHKMKIIK SLQKNGSVVA MTGDGVNDAV ALKAADIGVA 670 680 690 700 710 720 MGQTGTDVCK EAADMILVDD DFQTIMSAIE EGKGIYNNIK NFVRFQLSTS IAALTLISLA 730 740 750 760 770 780 TLMNFPNPLN AMQILWINII MDGPPAQSLG VEPVDKDVIR KPPRNWKDSI LTKNLILKIL 790 800 810 820 830 840 VSSIIIVCGT LFVFWRELRD NVITPRDTTM TFTCFVFFDM FNALSSRSQT KSVFEIGLCS 850 860 870 880 NRMFCYAVLG SIMGQLLVIY FPPLQKVFQT ESLSILGLAL GEEWTAAG
	Isoform 3 (ATP2C1B). Checksum: A7962E652B936D76	FASTA	923	101,163
	10 20 30 40 50 60 MIPVLTSKKA SELPVSEVAS ILQADLQNGL NKCEVSHRRA FHGWNEFDIS EDEPLWKKYI 70 80 90 100 110 120 SQFKNPLIML LLASAVISVL MHQFDDAVSI TVAILIVVTV AFVQEYRSEK SLEELSKLVP 130 140 150 160 170 180 PECHCVREGK LEHTLARDLV PGDTVCLSVG DRVPADLRLF EAVDLSIDES SLTGETTPCS 190 200 210 220 230 240 KVTAPQPAAT NGDLASRSNI AFMGTLVRCG KAKGVVIGTG ENSEFGEVFK MMQAEEAPKT 250 260 270 280 290 300 PLQKSMDLLG KQLSFYSFGI IGIIMLVGWL LGKDILEMFT ISVSLAVAAI PEGLPIVVTV 310 320 330 340 350 360 TLALGVMRMV KKRAIVKKLP IVETLGCCNV ICSDKTGTLT KNEMTVTHIF TSDGLHAEVT 370 380 390 400 410 420 GVGYNQFGEV IVDGDVVHGF YNPAVSRIVE AGCVCNDAVI RNNTLMGKPT EGALIALAMK 430 440 450 460 470 480 MGLDGLQQDY IRKAEYPFSS EQKWMAVKCV HRTQQDRPEI CFMKGAYEQV IKYCTTYQSK 490 500 510 520 530 540 GQTLTLTQQQ RDVYQQEKAR MGSAGLRVLA LASGPELGQL TFLGLVGIID PPRTGVKEAV 550 560 570 580 590 600 TTLIASGVSI KMITGDSQET AVAIASRLGL YSKTSQSVSG EEIDAMDVQQ LSQIVPKVAV 610 620 630 640 650 660 FYRASPRHKM KIIKSLQKNG SVVAMTGDGV NDAVALKAAD IGVAMGQTGT DVCKEAADMI 670 680 690 700 710 720 LVDDDFQTIM SAIEEGKGIY NNIKNFVRFQ LSTSIAALTL ISLATLMNFP NPLNAMQILW 730 740 750 760 770 780 INIIMDGPPA QSLGVEPVDK DVIRKPPRNW KDSILTKNLI LKILVSSIII VCGTLFVFWR 790 800 810 820 830 840 ELRDNVITPR DTTMTFTCFV FFDMFNALSS RSQTKSVFEI GLCSNRMFCY AVLGSIMGQL 850 860 870 880 890 900 LVIYFPPLQK VFQTESLSIL DLLFLLGLTS SVCIVAEIIK KVERSREKIQ KHVWLWERSG 910 920 QQLVEIHPHL ETGLPLTEDV SCV
	Isoform 4 (ATP2C1A). Checksum: D15118E067B15ED4	FASTA	903	98,733
	10 20 30 40 50 60 MIPVLTSKKA SELPVSEVAS ILQADLQNGL NKCEVSHRRA FHGWNEFDIS EDEPLWKKYI 70 80 90 100 110 120 SQFKNPLIML LLASAVISVL MHQFDDAVSI TVAILIVVTV AFVQEYRSEK SLEELSKLVP 130 140 150 160 170 180 PECHCVREGK LEHTLARDLV PGDTVCLSVG DRVPADLRLF EAVDLSIDES SLTGETTPCS 190 200 210 220 230 240 KVTAPQPAAT NGDLASRSNI AFMGTLVRCG KAKGVVIGTG ENSEFGEVFK MMQAEEAPKT 250 260 270 280 290 300 PLQKSMDLLG KQLSFYSFGI IGIIMLVGWL LGKDILEMFT ISVSLAVAAI PEGLPIVVTV 310 320 330 340 350 360 TLALGVMRMV KKRAIVKKLP IVETLGCCNV ICSDKTGTLT KNEMTVTHIF TSDGLHAEVT 370 380 390 400 410 420 GVGYNQFGEV IVDGDVVHGF YNPAVSRIVE AGCVCNDAVI RNNTLMGKPT EGALIALAMK 430 440 450 460 470 480 MGLDGLQQDY IRKAEYPFSS EQKWMAVKCV HRTQQDRPEI CFMKGAYEQV IKYCTTYQSK 490 500 510 520 530 540 GQTLTLTQQQ RDVYQQEKAR MGSAGLRVLA LASGPELGQL TFLGLVGIID PPRTGVKEAV 550 560 570 580 590 600 TTLIASGVSI KMITGDSQET AVAIASRLGL YSKTSQSVSG EEIDAMDVQQ LSQIVPKVAV 610 620 630 640 650 660 FYRASPRHKM KIIKSLQKNG SVVAMTGDGV NDAVALKAAD IGVAMGQTGT DVCKEAADMI 670 680 690 700 710 720 LVDDDFQTIM SAIEEGKGIY NNIKNFVRFQ LSTSIAALTL ISLATLMNFP NPLNAMQILW 730 740 750 760 770 780 INIIMDGPPA QSLGVEPVDK DVIRKPPRNW KDSILTKNLI LKILVSSIII VCGTLFVFWR 790 800 810 820 830 840 ELRDNVITPR DTTMTFTCFV FFDMFNALSS RSQTKSVFEI GLCSNRMFCY AVLGSIMGQL 850 860 870 880 890 900 LVIYFPPLQK VFQTESLSIL DLLFLLGLTS SVCIVAEIIK KVERSREKIQ KHVSSTSSSF LEV
	Isoform 5 (ATP2C1B). Checksum: E6B6914D20DFD0B7	FASTA	939	103,007
	10 20 30 40 50 60 MKVARFQKIP NGENETMIPV LTSKKASELP VSEVASILQA DLQNGLNKCE VSHRRAFHGW 70 80 90 100 110 120 NEFDISEDEP LWKKYISQFK NPLIMLLLAS AVISVLMHQF DDAVSITVAI LIVVTVAFVQ 130 140 150 160 170 180 EYRSEKSLEE LSKLVPPECH CVREGKLEHT LARDLVPGDT VCLSVGDRVP ADLRLFEAVD 190 200 210 220 230 240 LSIDESSLTG ETTPCSKVTA PQPAATNGDL ASRSNIAFMG TLVRCGKAKG VVIGTGENSE 250 260 270 280 290 300 FGEVFKMMQA EEAPKTPLQK SMDLLGKQLS FYSFGIIGII MLVGWLLGKD ILEMFTISVS 310 320 330 340 350 360 LAVAAIPEGL PIVVTVTLAL GVMRMVKKRA IVKKLPIVET LGCCNVICSD KTGTLTKNEM 370 380 390 400 410 420 TVTHIFTSDG LHAEVTGVGY NQFGEVIVDG DVVHGFYNPA VSRIVEAGCV CNDAVIRNNT 430 440 450 460 470 480 LMGKPTEGAL IALAMKMGLD GLQQDYIRKA EYPFSSEQKW MAVKCVHRTQ QDRPEICFMK 490 500 510 520 530 540 GAYEQVIKYC TTYQSKGQTL TLTQQQRDVY QQEKARMGSA GLRVLALASG PELGQLTFLG 550 560 570 580 590 600 LVGIIDPPRT GVKEAVTTLI ASGVSIKMIT GDSQETAVAI ASRLGLYSKT SQSVSGEEID 610 620 630 640 650 660 AMDVQQLSQI VPKVAVFYRA SPRHKMKIIK SLQKNGSVVA MTGDGVNDAV ALKAADIGVA 670 680 690 700 710 720 MGQTGTDVCK EAADMILVDD DFQTIMSAIE EGKGIYNNIK NFVRFQLSTS IAALTLISLA 730 740 750 760 770 780 TLMNFPNPLN AMQILWINII MDGPPAQSLG VEPVDKDVIR KPPRNWKDSI LTKNLILKIL 790 800 810 820 830 840 VSSIIIVCGT LFVFWRELRD NVITPRDTTM TFTCFVFFDM FNALSSRSQT KSVFEIGLCS 850 860 870 880 890 900 NRMFCYAVLG SIMGQLLVIY FPPLQKVFQT ESLSILDLLF LLGLTSSVCI VAEIIKKVER 910 920 930 SREKIQKHVW LWERSGQQLV EIHPHLETGL PLTEDVSCV
	Isoform 6 (ATP2C1D). Checksum: C25B54ABDE014607	FASTA	959	105,057
	10 20 30 40 50 60 MKVARFQKIP NGENETMIPV LTSKKASELP VSEVASILQA DLQNGLNKCE VSHRRAFHGW 70 80 90 100 110 120 NEFDISEDEP LWKKYISQFK NPLIMLLLAS AVISVLMHQF DDAVSITVAI LIVVTVAFVQ 130 140 150 160 170 180 EYRSEKSLEE LSKLVPPECH CVREGKLEHT LARDLVPGDT VCLSVGDRVP ADLRLFEAVD 190 200 210 220 230 240 LSIDESSLTG ETTPCSKVTA PQPAATNGDL ASRSNIAFMG TLVRCGKAKG VVIGTGENSE 250 260 270 280 290 300 FGEVFKMMQA EEAPKTPLQK SMDLLGKQLS FYSFGIIGII MLVGWLLGKD ILEMFTISVS 310 320 330 340 350 360 LAVAAIPEGL PIVVTVTLAL GVMRMVKKRA IVKKLPIVET LGCCNVICSD KTGTLTKNEM 370 380 390 400 410 420 TVTHIFTSDG LHAEVTGVGY NQFGEVIVDG DVVHGFYNPA VSRIVEAGCV CNDAVIRNNT 430 440 450 460 470 480 LMGKPTEGAL IALAMKMGLD GLQQDYIRKA EYPFSSEQKW MAVKCVHRTQ QDRPEICFMK 490 500 510 520 530 540 GAYEQVIKYC TTYQSKGQTL TLTQQQRDVY QQEKARMGSA GLRVLALASG PELGQLTFLG 550 560 570 580 590 600 LVGIIDPPRT GVKEAVTTLI ASGVSIKMIT GDSQETAVAI ASRLGLYSKT SQSVSGEEID 610 620 630 640 650 660 AMDVQQLSQI VPKVAVFYRA SPRHKMKIIK SLQKNGSVVA MTGDGVNDAV ALKAADIGVA 670 680 690 700 710 720 MGQTGTDVCK EAADMILVDD DFQTIMSAIE EGKGIYNNIK NFVRFQLSTS IAALTLISLA 730 740 750 760 770 780 TLMNFPNPLN AMQILWINII MDGPPAQSLG VEPVDKDVIR KPPRNWKDSI LTKNLILKIL 790 800 810 820 830 840 VSSIIIVCGT LFVFWRELRD NVITPRDTTM TFTCFVFFDM FNALSSRSQT KSVFEIGLCS 850 860 870 880 890 900 NRMFCYAVLG SIMGQLLVIY FPPLQKVFQT ESLSILDLLF LLGLTSSVCI VAEIIKKVER 910 920 930 940 950 SREKIQKHVS STSSSFLEVS STSSSFLEVW LWERSGQQLV EIHPHLETGL PLTEDVSCV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 10615129] [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]	"Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump." Sudbrak R., Brown J., Dobson-Stone C., Carter S., Ramser J., White J., Healy E., Dissanayake M., Larregue M., Perrussel M., Lehrach H., Munro C.S., Strachan T., Burge S., Hovnanian A., Monaco A.P. Hum. Mol. Genet. 9:1131-1140(2000) [PubMed: 10767338] [Abstract] 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: 12707275] [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: 10718198] [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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 6), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 360-919 (ISOFORM 1). Tissue: Mammary gland and Neuron.
[6]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Blood.
[8]	"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: 11124703] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 424-919.
[9]	"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: 11841554] [Abstract] Cited for: VARIANTS HHD CYS-309; PRO-341; ARG-411; VAL-580; TYR-742 AND ARG-789.
[10]	"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: 11874499] [Abstract] Cited for: VARIANTS HHD PHE-490 AND PRO-584.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	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. AK314342 mRNA. Translation: BAG36984.1. CH471052 Genomic DNA. Translation: EAW79219.1. BC028139 mRNA. Translation: AAH28139.1. AJ010953 mRNA. Translation: CAA09425.1.
IPI	IPI00220473. IPI00413116. IPI00419957. IPI00607568. IPI00607812. IPI00745171.
RefSeq	NP_001001485.1. NP_001001486.1. NP_001001487.1. NP_055197.2.
UniGene	Hs.584884
3D structure databases
HSSP	HSSP built from PDB template 1EUL based on UniProtKB P04191.
ModBase	Search...
Protein-protein interaction databases
STRING	P98194.
Protein family/group databases
TCDB	3.A.3.2.5. P-type ATPase (P-ATPase) superfamily.
PTM databases
PhosphoSite	P98194.
Proteomic databases
PRIDE	P98194.
Genome annotation databases
Ensembl	ENST00000328560; ENSP00000329664; ENSG00000017260; Homo sapiens. [Genome view] ENST00000347421; ENSP00000306816; ENSG00000017260; Homo sapiens. [Genome view] ENST00000359644; ENSP00000352665; ENSG00000017260; Homo sapiens. [Genome view] ENST00000393221; ENSP00000376914; ENSG00000017260; Homo sapiens. [Genome view] ENST00000422190; ENSP00000402677; ENSG00000017260; Homo sapiens. [Genome view] ENST00000428331; ENSP00000395809; ENSG00000017260; Homo sapiens. [Genome view]
GeneID	27032.
KEGG	hsa:27032.
UCSC	uc003enk.1. human. uc003enl.1. human. uc003enm.1. human. uc003enn.1. human.
Organism-specific databases
CTD	27032.
GeneCards	GC03P132095.
H-InvDB	HIX0003679.
HGNC	HGNC:13211. ATP2C1.
HPA	CAB010207.
MIM	169600. phenotype. 604384. gene.
Orphanet	2841. Pemphigus, benign chronic familial.
PharmGKB	PA25111.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	P98194.
Enzyme and pathway databases
BRENDA	3.6.3.8. 247.
Gene expression databases
ArrayExpress	P98194.
Bgee	P98194.
CleanEx	HS_ATP2C1.
Genevestigator	P98194.
GermOnline	ENSG00000017260. Homo sapiens.
Family and domain databases
InterPro	IPR008250. ATPase_P-typ_ATPase-assoc-reg. IPR006413. ATPase_P-typ_Ca-transp_PMR1. IPR006068. ATPase_P-typ_cation-transptr_C. IPR004014. ATPase_P-typ_cation-transptr_N. IPR000695. ATPase_P-typ_H-transp. IPR001757. ATPase_P-typ_ion-transptr. IPR018303. ATPase_P-typ_P_site. IPR005834. Dehalogen-like_hydro. [Graphical view]
PANTHER	PTHR11939. ATPase_P. 1 hit.
Pfam	PF00689. Cation_ATPase_C. 1 hit. PF00690. Cation_ATPase_N. 1 hit. PF00122. E1-E2_ATPase. 1 hit. PF00702. Hydrolase. 1 hit. [Graphical view]
PRINTS	PR00119. CATATPASE. PR00120. HATPASE.
TIGRFAMs	TIGR01522. ATPase-IIA2_Ca. 1 hit. TIGR01494. ATPase_P-type. 4 hits.
PROSITE	PS00154. ATPASE_E1_E2. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
DrugBank	DB01169. Arsenic trioxide. DB01189. Desflurane. DB00228. Enflurane. DB01159. Halothane. DB00753. Isoflurane. DB01028. Methoxyflurane. DB01110. Miconazole. DB01236. Sevoflurane.
NextBio	49568.
SOURCE	Search...

Entry information

Entry name

AT2C1_HUMAN

Accession

Primary (citable) accession number: P98194
Secondary accession number(s): B2RAT7 , O76005, Q86V72, Q86V73, Q8N6V1, Q8NCJ7

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	June 21, 2005
Last modified:	October 13, 2009
This is version 106 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.