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O14983

- AT2A1_HUMAN

UniProt

O14983 - AT2A1_HUMAN

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Protein

Sarcoplasmic/endoplasmic reticulum calcium ATPase 1

Gene
ATP2A1
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 translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen. Contributes to calcium sequestration involved in muscular excitation/contraction.

Catalytic activityi

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

Enzyme regulationi

Reversibly inhibited by phospholamban (PLN) at low calcium concentrations. Dephosphorylated PLN decreases the apparent affinity of the ATPase for calcium. This inhibition is regulated by the phosphorylation of PLN By similarity.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi304 – 3041Calcium 2; via carbonyl oxygen By similarity
Metal bindingi305 – 3051Calcium 2; via carbonyl oxygen By similarity
Metal bindingi307 – 3071Calcium 2; via carbonyl oxygen By similarity
Metal bindingi309 – 3091Calcium 2 By similarity
Active sitei351 – 35114-aspartylphosphate intermediate By similarity
Metal bindingi703 – 7031Magnesium By similarity
Metal bindingi707 – 7071Magnesium By similarity
Metal bindingi768 – 7681Calcium 1 By similarity
Metal bindingi771 – 7711Calcium 1 By similarity
Metal bindingi796 – 7961Calcium 2 By similarity
Metal bindingi799 – 7991Calcium 1 By similarity
Metal bindingi800 – 8001Calcium 1 By similarity
Metal bindingi800 – 8001Calcium 2 By similarity
Metal bindingi908 – 9081Calcium 1 By similarity

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. calcium ion binding Source: UniProtKB
  3. calcium-transporting ATPase activity Source: UniProtKB
  4. protein binding Source: UniProtKB
  5. protein homodimerization activity Source: BHF-UCL

GO - Biological processi

  1. apoptotic mitochondrial changes Source: BHF-UCL
  2. ATP catabolic process Source: UniProtKB
  3. blood coagulation Source: Reactome
  4. calcium ion import Source: BHF-UCL
  5. calcium ion transmembrane transport Source: GOC
  6. calcium ion transport Source: UniProtKB
  7. intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress Source: BHF-UCL
  8. ion transmembrane transport Source: Reactome
  9. maintenance of mitochondrion location Source: BHF-UCL
  10. negative regulation of endoplasmic reticulum calcium ion concentration Source: BHF-UCL
  11. negative regulation of striated muscle contraction Source: UniProtKB
  12. positive regulation of endoplasmic reticulum calcium ion concentration Source: BHF-UCL
  13. positive regulation of fast-twitch skeletal muscle fiber contraction Source: UniProtKB
  14. positive regulation of mitochondrial calcium ion concentration Source: BHF-UCL
  15. regulation of striated muscle contraction Source: UniProtKB
  16. relaxation of skeletal muscle Source: BHF-UCL
  17. response to endoplasmic reticulum stress Source: BHF-UCL
  18. 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

ReactomeiREACT_118798. Pre-NOTCH Processing in Golgi.
REACT_23765. Reduction of cytosolic Ca++ levels.
REACT_25149. Ion transport by P-type ATPases.

Names & Taxonomyi

Protein namesi
Recommended name:
Sarcoplasmic/endoplasmic reticulum calcium ATPase 1 (EC:3.6.3.8)
Short name:
SERCA1
Short name:
SR Ca(2+)-ATPase 1
Alternative name(s):
Calcium pump 1
Calcium-transporting ATPase sarcoplasmic reticulum type, fast twitch skeletal muscle isoform
Endoplasmic reticulum class 1/2 Ca(2+) ATPase
Gene namesi
Name:ATP2A1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:811. ATP2A1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 4848Cytoplasmic By similarityAdd
BLAST
Transmembranei49 – 6921Helical; Name=1; By similarityAdd
BLAST
Topological domaini70 – 8920Lumenal By similarityAdd
BLAST
Transmembranei90 – 11021Helical; Name=2; By similarityAdd
BLAST
Topological domaini111 – 253143Cytoplasmic By similarityAdd
BLAST
Transmembranei254 – 27320Helical; Name=3; By similarityAdd
BLAST
Topological domaini274 – 29522Lumenal By similarityAdd
BLAST
Transmembranei296 – 31318Helical; Name=4; By similarityAdd
BLAST
Topological domaini314 – 757444Cytoplasmic By similarityAdd
BLAST
Transmembranei758 – 77720Helical; Name=5; By similarityAdd
BLAST
Topological domaini778 – 78710Lumenal By similarity
Transmembranei788 – 80821Helical; Name=6; By similarityAdd
BLAST
Topological domaini809 – 82820Cytoplasmic By similarityAdd
BLAST
Transmembranei829 – 85123Helical; Name=7; By similarityAdd
BLAST
Topological domaini852 – 89746Lumenal By similarityAdd
BLAST
Transmembranei898 – 91720Helical; Name=8; By similarityAdd
BLAST
Topological domaini918 – 93013Cytoplasmic By similarityAdd
BLAST
Transmembranei931 – 94919Helical; Name=9; By similarityAdd
BLAST
Topological domaini950 – 96415Lumenal By similarityAdd
BLAST
Transmembranei965 – 98521Helical; Name=10; By similarityAdd
BLAST
Topological domaini986 – 100116Cytoplasmic By similarityAdd
BLAST

GO - Cellular componenti

  1. calcium channel complex Source: BHF-UCL
  2. endoplasmic reticulum-Golgi intermediate compartment Source: UniProtKB
  3. endoplasmic reticulum membrane Source: UniProtKB
  4. H zone Source: UniProtKB
  5. I band Source: UniProtKB
  6. integral component of membrane Source: UniProtKB
  7. membrane Source: UniProtKB
  8. perinuclear region of cytoplasm Source: UniProtKB
  9. platelet dense tubular network membrane Source: Reactome
  10. sarcoplasmic reticulum Source: UniProtKB
  11. sarcoplasmic reticulum membrane Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Sarcoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

Brody myopathy (BRM) [MIM:601003]: A disorder of muscle function that is characterized by painless muscle cramping and exercise-induced impairment of muscle relaxation.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti789 – 7891P → L in BRM; almost complete loss of Ca(2+) transport activity because of reduced Ca(2+) affinity. 1 Publication
VAR_015588

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi601003. phenotype.
Orphaneti53347. Brody myopathy.
PharmGKBiPA25105.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10011001Sarcoplasmic/endoplasmic reticulum calcium ATPase 1PRO_0000046187Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi876 ↔ 8881 Publication

Keywords - PTMi

Disulfide bond

Proteomic databases

MaxQBiO14983.
PaxDbiO14983.
PRIDEiO14983.

PTM databases

PhosphoSiteiO14983.

Expressioni

Tissue specificityi

Skeletal muscle, fast twitch muscle (type II) fibers.

Developmental stagei

Isoform SERCA1A accounts for more than 99% of SERCA1 isoforms expressed in adult skeletal muscle, while isoform SERCA1B predominates in neo-natal skeletal muscle.

Inductioni

Increased contractile activity leads to a decrease in SERCA1 expression, while decreased contractile activity leads to an increase in SERCA1 expression.

Gene expression databases

ArrayExpressiO14983.
BgeeiO14983.
CleanExiHS_ATP2A1.
GenevestigatoriO14983.

Organism-specific databases

HPAiCAB002310.
CAB032706.

Interactioni

Subunit structurei

Associated with sarcolipin (SLN) and phospholamban (PLN) By similarity.

Protein-protein interaction databases

BioGridi106977. 9 interactions.
IntActiO14983. 3 interactions.
MINTiMINT-1158140.
STRINGi9606.ENSP00000349595.

Structurei

3D structure databases

ProteinModelPortaliO14983.
SMRiO14983. Positions 1-993.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni370 – 40031Interacts with phospholamban 1 By similarityAdd
BLAST
Regioni788 – 80821Interacts with phospholamban 2 By similarityAdd
BLAST

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0474.
HOGENOMiHOG000265621.
HOVERGENiHBG105648.
KOiK05853.
OMAiNEDVADR.
OrthoDBiEOG73Z2SF.
PhylomeDBiO14983.
TreeFamiTF300651.

Family and domain databases

Gene3Di1.20.1110.10. 2 hits.
2.70.150.10. 2 hits.
3.40.1110.10. 1 hit.
InterProiIPR005782. ATPase_P-typ_Ca-transp_IIA.
IPR006068. ATPase_P-typ_cation-transptr_C.
IPR004014. ATPase_P-typ_cation-transptr_N.
IPR023299. ATPase_P-typ_cyto_domN.
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. 1 hit.
SSF81660. SSF81660. 1 hit.
TIGRFAMsiTIGR01116. ATPase-IIA1_Ca. 1 hit.
TIGR01494. ATPase_P-type. 2 hits.
PROSITEiPS00154. ATPASE_E1_E2. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform SERCA1B (identifier: O14983-1) [UniParc]FASTAAdd to Basket

Also known as: ATP2A1B, Neonatal

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

MEAAHAKTTE ECLAYFGVSE TTGLTPDQVK RNLEKYGLNE LPAEEGKTLW     50
ELVIEQFEDL LVRILLLAAC ISFVLAWFEE GEETITAFVE PFVILLILIA 100
NAIVGVWQER NAENAIEALK EYEPEMGKVY RADRKSVQRI KARDIVPGDI 150
VEVAVGDKVP ADIRILAIKS TTLRVDQSIL TGESVSVIKH TEPVPDPRAV 200
NQDKKNMLFS GTNIAAGKAL GIVATTGVGT EIGKIRDQMA ATEQDKTPLQ 250
QKLDEFGEQL SKVISLICVA VWLINIGHFN DPVHGGSWFR GAIYYFKIAV 300
ALAVAAIPEG LPAVITTCLA LGTRRMAKKN AIVRSLPSVE TLGCTSVICS 350
DKTGTLTTNQ MSVCKMFIID KVDGDICLLN EFSITGSTYA PEGEVLKNDK 400
PVRPGQYDGL VELATICALC NDSSLDFNEA KGVYEKVGEA TETALTTLVE 450
KMNVFNTDVR SLSKVERANA CNSVIRQLMK KEFTLEFSRD RKSMSVYCSP 500
AKSSRAAVGN KMFVKGAPEG VIDRCNYVRV GTTRVPLTGP VKEKIMAVIK 550
EWGTGRDTLR CLALATRDTP PKREEMVLDD SARFLEYETD LTFVGVVGML 600
DPPRKEVTGS IQLCRDAGIR VIMITGDNKG TAIAICRRIG IFGENEEVAD 650
RAYTGREFDD LPLAEQREAC RRACCFARVE PSHKSKIVEY LQSYDEITAM 700
TGDGVNDAPA LKKAEIGIAM GSGTAVAKTA SEMVLADDNF STIVAAVEEG 750
RAIYNNMKQF IRYLISSNVG EVVCIFLTAA LGLPEALIPV QLLWVNLVTD 800
GLPATALGFN PPDLDIMDRP PRSPKEPLIS GWLFFRYMAI GGYVGAATVG 850
AAAWWFLYAE DGPHVNYSQL THFMQCTEDN THFEGIDCEV FEAPEPMTMA 900
LSVLVTIEMC NALNSLSENQ SLLRMPPWVN IWLLGSICLS MSLHFLILYV 950
DPLPMIFKLR ALDLTQWLMV LKISLPVIGL DEILKFVARN YLEDPEDERR 1000
K 1001
Length:1,001
Mass (Da):110,252
Last modified:January 1, 1998 - v1
Checksum:iC8F33809B56FDDEE
GO
Isoform SERCA1A (identifier: O14983-2) [UniParc]FASTAAdd to Basket

Also known as: ATP2A1A, Adult

The sequence of this isoform differs from the canonical sequence as follows:
     994-1001: DPEDERRK → G

Show »
Length:994
Mass (Da):109,283
Checksum:i3C07972DB585C083
GO
Isoform 3 (identifier: O14983-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-125: Missing.
     994-1001: DPEDERRK → G

Note: No experimental confirmation available.

Show »
Length:869
Mass (Da):95,199
Checksum:iA1D5541B75BA3014
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti789 – 7891P → L in BRM; almost complete loss of Ca(2+) transport activity because of reduced Ca(2+) affinity. 1 Publication
VAR_015588

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 125125Missing in isoform 3. VSP_054770Add
BLAST
Alternative sequencei994 – 10018DPEDERRK → G in isoform SERCA1A and isoform 3. VSP_000355

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U96781
, U96773, U96774, U96775, U96776, U96777, U96778, U96779, U96780 Genomic DNA. Translation: AAB53113.1.
U96781
, U96773, U96774, U96775, U96776, U96777, U96778, U96779, U96780 Genomic DNA. Translation: AAB53112.1.
AK128456 mRNA. Translation: BAG54679.1.
AK291314 mRNA. Translation: BAF84003.1.
AC109460 Genomic DNA. No translation available.
AC133550 Genomic DNA. No translation available.
CCDSiCCDS10643.1. [O14983-1]
CCDS42139.1. [O14983-2]
CCDS66997.1. [O14983-3]
RefSeqiNP_001273004.1. NM_001286075.1. [O14983-3]
NP_004311.1. NM_004320.4. [O14983-2]
NP_775293.1. NM_173201.3. [O14983-1]
UniGeneiHs.657344.

Genome annotation databases

EnsembliENST00000357084; ENSP00000349595; ENSG00000196296. [O14983-1]
ENST00000395503; ENSP00000378879; ENSG00000196296. [O14983-2]
ENST00000536376; ENSP00000443101; ENSG00000196296.
GeneIDi487.
KEGGihsa:487.
UCSCiuc002drn.1. human. [O14983-2]
uc002dro.1. human. [O14983-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U96781
, U96773 , U96774 , U96775 , U96776 , U96777 , U96778 , U96779 , U96780 Genomic DNA. Translation: AAB53113.1 .
U96781
, U96773 , U96774 , U96775 , U96776 , U96777 , U96778 , U96779 , U96780 Genomic DNA. Translation: AAB53112.1 .
AK128456 mRNA. Translation: BAG54679.1 .
AK291314 mRNA. Translation: BAF84003.1 .
AC109460 Genomic DNA. No translation available.
AC133550 Genomic DNA. No translation available.
CCDSi CCDS10643.1. [O14983-1 ]
CCDS42139.1. [O14983-2 ]
CCDS66997.1. [O14983-3 ]
RefSeqi NP_001273004.1. NM_001286075.1. [O14983-3 ]
NP_004311.1. NM_004320.4. [O14983-2 ]
NP_775293.1. NM_173201.3. [O14983-1 ]
UniGenei Hs.657344.

3D structure databases

ProteinModelPortali O14983.
SMRi O14983. Positions 1-993.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 106977. 9 interactions.
IntActi O14983. 3 interactions.
MINTi MINT-1158140.
STRINGi 9606.ENSP00000349595.

Chemistry

BindingDBi O14983.
ChEMBLi CHEMBL3136.

PTM databases

PhosphoSitei O14983.

Proteomic databases

MaxQBi O14983.
PaxDbi O14983.
PRIDEi O14983.

Protocols and materials databases

DNASUi 487.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000357084 ; ENSP00000349595 ; ENSG00000196296 . [O14983-1 ]
ENST00000395503 ; ENSP00000378879 ; ENSG00000196296 . [O14983-2 ]
ENST00000536376 ; ENSP00000443101 ; ENSG00000196296 .
GeneIDi 487.
KEGGi hsa:487.
UCSCi uc002drn.1. human. [O14983-2 ]
uc002dro.1. human. [O14983-1 ]

Organism-specific databases

CTDi 487.
GeneCardsi GC16P028889.
HGNCi HGNC:811. ATP2A1.
HPAi CAB002310.
CAB032706.
MIMi 108730. gene.
601003. phenotype.
neXtProti NX_O14983.
Orphaneti 53347. Brody myopathy.
PharmGKBi PA25105.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0474.
HOGENOMi HOG000265621.
HOVERGENi HBG105648.
KOi K05853.
OMAi NEDVADR.
OrthoDBi EOG73Z2SF.
PhylomeDBi O14983.
TreeFami TF300651.

Enzyme and pathway databases

Reactomei REACT_118798. Pre-NOTCH Processing in Golgi.
REACT_23765. Reduction of cytosolic Ca++ levels.
REACT_25149. Ion transport by P-type ATPases.

Miscellaneous databases

GeneWikii ATP2A1.
GenomeRNAii 487.
NextBioi 2023.
PROi O14983.
SOURCEi Search...

Gene expression databases

ArrayExpressi O14983.
Bgeei O14983.
CleanExi HS_ATP2A1.
Genevestigatori O14983.

Family and domain databases

Gene3Di 1.20.1110.10. 2 hits.
2.70.150.10. 2 hits.
3.40.1110.10. 1 hit.
InterProi IPR005782. ATPase_P-typ_Ca-transp_IIA.
IPR006068. ATPase_P-typ_cation-transptr_C.
IPR004014. ATPase_P-typ_cation-transptr_N.
IPR023299. ATPase_P-typ_cyto_domN.
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. 1 hit.
SSF81660. SSF81660. 1 hit.
TIGRFAMsi TIGR01116. ATPase-IIA1_Ca. 1 hit.
TIGR01494. ATPase_P-type. 2 hits.
PROSITEi PS00154. ATPASE_E1_E2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Characterization of cDNA and genomic DNA encoding SERCA1, the Ca(2+)-ATPase of human fast-twitch skeletal muscle sarcoplasmic reticulum, and its elimination as a candidate gene for Brody disease."
    Zhang Y., Fujii J., Phillips M.S., Chen H.-S., Karpati G., Yee W.-C., Schrank B., Cornblath D.R., Boylan K.B., Maclennan D.H.
    Genomics 30:415-424(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS SERCA1A AND SERCA1B).
    Tissue: Skeletal muscle.
  2. "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 SERCA1A AND 3).
    Tissue: Tongue.
  3. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    Tissue: Thymus.
  4. "Mutations of either or both Cys876 and Cys888 residues of sarcoplasmic reticulum Ca2+-ATPase result in a complete loss of Ca2+ transport activity without a loss of Ca2+-dependent ATPase activity. Role of the Cys876-Cys888 disulfide bond."
    Daiho T., Yamasaki K., Saino T., Kamidochi M., Satoh K., Iizuka H., Suzuki H.
    J. Biol. Chem. 276:32771-32778(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: DISULFIDE BOND.
  5. "The mutation of Pro(789) to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca(2+) ATPase (SERCA1) and is associated with Brody disease."
    Odermatt A., Barton K., Khanna V.K., Mathieu J., Escolar D., Kuntzer T., Karpati G., MacLennan D.H.
    Hum. Genet. 106:482-491(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BRM LEU-789.

Entry informationi

Entry nameiAT2A1_HUMAN
AccessioniPrimary (citable) accession number: O14983
Secondary accession number(s): A8K5J9, B3KY17, O14984
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: January 1, 1998
Last modified: September 3, 2014
This is version 151 of the entry and version 1 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 16
    Human chromosome 16: 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

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