KEGG   Homo sapiens (human): 487Help
Entry
487               CDS       T01001                                 

Gene name
ATP2A1, ATP2A, SERCA1
Definition
(RefSeq) ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
  KO
K05853  P-type Ca2+ transporter type 2A [EC:7.2.2.10]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04020  Calcium signaling pathway
hsa04022  cGMP-PKG signaling pathway
hsa04024  cAMP signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04919  Thyroid hormone signaling pathway
hsa04972  Pancreatic secretion
hsa05010  Alzheimer disease
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414  Dilated cardiomyopathy (DCM)
Disease
H01129  Brody myopathy
Drug target
Mipsagargin: D10715
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04020 Calcium signaling pathway
    487 (ATP2A1)
   04024 cAMP signaling pathway
    487 (ATP2A1)
   04022 cGMP-PKG signaling pathway
    487 (ATP2A1)
 09150 Organismal Systems
  09152 Endocrine system
   04919 Thyroid hormone signaling pathway
    487 (ATP2A1)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    487 (ATP2A1)
   04261 Adrenergic signaling in cardiomyocytes
    487 (ATP2A1)
  09154 Digestive system
   04972 Pancreatic secretion
    487 (ATP2A1)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    487 (ATP2A1)
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy (HCM)
    487 (ATP2A1)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    487 (ATP2A1)
   05414 Dilated cardiomyopathy (DCM)
    487 (ATP2A1)
Enzymes [BR:hsa01000]
 7. Translocases
  7.2  Catalysing the translocation of inorganic cations
   7.2.2  Linked to the hydrolysis of a nucleoside triphosphate
    7.2.2.10  P-type Ca2+ transporter
     487 (ATP2A1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: E1-E2_ATPase Cation_ATPase_C Cation_ATPase_N Cation_ATPase Hydrolase Hydrolase_3 HAD
Motif
Other DBs
NCBI-GeneID: 487
NCBI-ProteinID: NP_775293
OMIM: 108730
HGNC: 811
Ensembl: ENSG00000196296
Vega: OTTHUMG00000131760
Pharos: O14983(Tchem)
UniProt: O14983 Q7Z675
Position
16p11.2
AA seq 1001 aa AA seqDB search
MEAAHAKTTEECLAYFGVSETTGLTPDQVKRNLEKYGLNELPAEEGKTLWELVIEQFEDL
LVRILLLAACISFVLAWFEEGEETITAFVEPFVILLILIANAIVGVWQERNAENAIEALK
EYEPEMGKVYRADRKSVQRIKARDIVPGDIVEVAVGDKVPADIRILAIKSTTLRVDQSIL
TGESVSVIKHTEPVPDPRAVNQDKKNMLFSGTNIAAGKALGIVATTGVGTEIGKIRDQMA
ATEQDKTPLQQKLDEFGEQLSKVISLICVAVWLINIGHFNDPVHGGSWFRGAIYYFKIAV
ALAVAAIPEGLPAVITTCLALGTRRMAKKNAIVRSLPSVETLGCTSVICSDKTGTLTTNQ
MSVCKMFIIDKVDGDICLLNEFSITGSTYAPEGEVLKNDKPVRPGQYDGLVELATICALC
NDSSLDFNEAKGVYEKVGEATETALTTLVEKMNVFNTDVRSLSKVERANACNSVIRQLMK
KEFTLEFSRDRKSMSVYCSPAKSSRAAVGNKMFVKGAPEGVIDRCNYVRVGTTRVPLTGP
VKEKIMAVIKEWGTGRDTLRCLALATRDTPPKREEMVLDDSARFLEYETDLTFVGVVGML
DPPRKEVTGSIQLCRDAGIRVIMITGDNKGTAIAICRRIGIFGENEEVADRAYTGREFDD
LPLAEQREACRRACCFARVEPSHKSKIVEYLQSYDEITAMTGDGVNDAPALKKAEIGIAM
GSGTAVAKTASEMVLADDNFSTIVAAVEEGRAIYNNMKQFIRYLISSNVGEVVCIFLTAA
LGLPEALIPVQLLWVNLVTDGLPATALGFNPPDLDIMDRPPRSPKEPLISGWLFFRYMAI
GGYVGAATVGAAAWWFLYAEDGPHVNYSQLTHFMQCTEDNTHFEGIDCEVFEAPEPMTMA
LSVLVTIEMCNALNSLSENQSLLRMPPWVNIWLLGSICLSMSLHFLILYVDPLPMIFKLR
ALDLTQWLMVLKISLPVIGLDEILKFVARNYLEDPEDERRK
NT seq 3006 nt NT seq  +upstreamnt  +downstreamnt
atggaggccgctcatgctaaaaccacggaggaatgtttggcctattttggggtgagtgag
accacgggcctcaccccggaccaagttaagcggaatctggagaaatacggcctcaatgag
ctccctgctgaggaagggaagaccctgtgggagctggtgatagagcagtttgaagacctc
ctggtgcggattctcctcctggccgcatgcatttccttcgtgctggcctggtttgaggaa
ggtgaagagaccatcactgcctttgttgaaccctttgtcatcctcttgatcctcattgcc
aatgccatcgtgggggtttggcaggagcggaacgcagagaacgccatcgaggccctgaag
gagtatgagccagagatggggaaggtctaccgggctgaccgcaagtcagtgcaaaggatc
aaggctcgggacatcgtccctggggacatcgtggaggtggctgtgggggacaaagtccct
gcagacatccgaatcctcgccatcaaatccaccacgctgcgggttgaccagtccatcctg
acaggcgagtctgtatctgtcatcaaacacacggagcccgttcctgacccccgagctgtc
aaccaggacaagaagaacatgcttttctcgggcaccaacattgcagccggcaaggccttg
ggcatcgtggccaccactggtgtgggcaccgagattgggaagatccgagaccaaatggct
gccacagaacaggacaagacccccttgcagcagaagctggatgagtttggggagcagctc
tccaaggtcatctccctcatctgtgtggctgtctggcttatcaacattggccacttcaac
gaccccgtccatgggggctcctggttccgcggggccatctactactttaagattgccgtg
gccttggctgtggctgccatccccgaaggtcttcctgcagtcatcaccacctgcctggcc
ctgggtacccgtcggatggcaaagaagaatgccattgtaagaagcttgccctccgtagag
accctgggctgcacctctgtcatctgttccgacaagacaggcaccctcaccaccaaccag
atgtctgtctgcaagatgtttatcattgacaaggtggatggggacatctgcctcctgaat
gagttctccatcaccggctccacttacgctccagagggagaggtcttgaagaatgataag
ccagtccggccagggcagtatgacgggctggtggagctggccaccatctgtgccctctgc
aatgactcctccttggacttcaacgaggccaaaggtgtctatgagaaggtcggcgaggcc
accgagacagcactcaccaccctggtggagaagatgaatgtgttcaacacggatgtgaga
agcctctcgaaggtggagagagccaacgcctgcaactcggtgatccgccagctaatgaag
aaggaattcaccctggagttctcccgagacagaaagtccatgtctgtctattgctcccca
gccaaatcttcccgggctgctgtgggcaacaagatgtttgtcaagggtgcccctgagggc
gtcatcgaccgctgtaactatgtgcgagttggcaccacccgggtgccactgacggggccg
gtgaaggaaaagatcatggcggtgatcaaggagtggggcactggccgggacaccctgcgc
tgcttggccctggccacccgggacacccccccgaagcgagaggaaatggtcctggatgac
tctgccaggttcctggagtatgagacggacctgacattcgtgggtgtagtgggcatgctg
gaccctccgcgcaaggaggtcacgggctccatccagctgtgccgtgacgccgggatccgg
gtgatcatgatcactggggacaacaagggcacagccattgccatctgccggcgaattggc
atctttggggagaacgaggaggtggccgatcgcgcctacacgggccgagagttcgacgac
ctgcccctggctgaacagcgggaagcctgccgacgtgcctgctgcttcgcccgtgtggag
ccctcgcacaagtccaagattgtggagtacctgcagtcctacgatgagatcacagccatg
acaggtgatggcgtcaatgacgcccctgccctgaagaaggctgagattggcattgccatg
ggatctggcactgccgtggccaagactgcctctgagatggtgctggctgacgacaacttc
tccaccatcgtagctgctgtggaggagggccgcgccatctacaacaacatgaagcagttc
atccgctacctcatttcctccaacgtgggcgaggtggtctgtatcttcctgaccgctgcc
ctggggctgcctgaggccctgatcccggtgcagctgctatgggtgaacttggtgaccgac
gggctcccagccacagccctgggcttcaacccaccagacctggacatcatggaccgcccc
ccccggagccccaaggagcccctcatcagtggctggctcttcttccgctacatggcaatc
gggggctatgtgggtgcagccaccgtgggagcagctgcctggtggttcctgtacgctgag
gatgggcctcatgtcaactacagccagctgactcacttcatgcagtgcaccgaggacaac
acccactttgagggcatagactgtgaggtcttcgaggcccccgagcccatgaccatggcc
ctgtccgtgctggtgaccatcgagatgtgcaatgcactgaacagcctgtccgagaaccag
tccctgctgcggatgccaccctgggtgaacatctggctgctgggctccatctgcctctcc
atgtccctgcacttcctcatcctctatgttgaccccctgccgatgatcttcaagctccgg
gccctggacctcacccagtggctcatggtcctcaagatctcactgccagtcattgggctc
gacgaaatcctcaagttcgttgctcggaactacctagaggatccagaagatgaaagaagg
aagtga

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