KEGG   Homo sapiens (human): 9780
Entry
9780              CDS       T01001                                 
Symbol
PIEZO1, DHS, ER, FAM38A, LMPH3, LMPHM6, Mib
Name
(RefSeq) piezo type mechanosensitive ion channel component 1 (Er blood group)
  KO
K22128  piezo-type mechanosensitive ion channel component 1/2
Organism
hsa  Homo sapiens (human)
Disease
H00232  Hereditary stomatocytosis
H00535  Lymphatic malformation
H01978  Dehydrated hereditary stomatocytosis
H02001  Familial pseudohyperkalemia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    9780 (PIEZO1)
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    9780 (PIEZO1)
Membrane trafficking [BR:hsa04131]
 Endoplasmic reticulum (ER) - Golgi transport
  Others
   Others
    9780 (PIEZO1)
Ion channels [BR:hsa04040]
 Other channels
  Mechanosensitive channel (Piezo)
   9780 (PIEZO1)
SSDB
Motif
Pfam: Piezo_RRas_bdg PIEZO
Other DBs
NCBI-GeneID: 9780
NCBI-ProteinID: NP_001136336
OMIM: 611184
HGNC: 28993
Ensembl: ENSG00000103335
UniProt: Q92508
Position
16:complement(88715338..88785220)
AA seq 2521 aa
MEPHVLGAVLYWLLLPCALLAACLLRFSGLSLVYLLFLLLLPWFPGPTRCGLQGHTGRLL
RALLGLSLLFLVAHLALQICLHIVPRLDQLLGPSCSRWETLSRHIGVTRLDLKDIPNAIR
LVAPDLGILVVSSVCLGICGRLARNTRQSPHPRELDDDERDVDASPTAGLQEAATLAPTR
RSRLAARFRVTAHWLLVAAGRVLAVTLLALAGIAHPSALSSVYLLLFLALCTWWACHFPI
STRGFSRLCVAVGCFGAGHLICLYCYQMPLAQALLPPAGIWARVLGLKDFVGPTNCSSPH
ALVLNTGLDWPVYASPGVLLLLCYATASLRKLRAYRPSGQRKEAAKGYEARELELAELDQ
WPQERESDQHVVPTAPDTEADNCIVHELTGQSSVLRRPVRPKRAEPREASPLHSLGHLIM
DQSYVCALIAMMVWSITYHSWLTFVLLLWACLIWTVRSRHQLAMLCSPCILLYGMTLCCL
RYVWAMDLRPELPTTLGPVSLRQLGLEHTRYPCLDLGAMLLYTLTFWLLLRQFVKEKLLK
WAESPAALTEVTVADTEPTRTQTLLQSLGELVKGVYAKYWIYVCAGMFIVVSFAGRLVVY
KIVYMFLFLLCLTLFQVYYSLWRKLLKAFWWLVVAYTMLVLIAVYTFQFQDFPAYWRNLT
GFTDEQLGDLGLEQFSVSELFSSILVPGFFLLACILQLHYFHRPFMQLTDMEHVSLPGTR
LPRWAHRQDAVSGTPLLREEQQEHQQQQQEEEEEEEDSRDEGLGVATPHQATQVPEGAAK
WGLVAERLLELAAGFSDVLSRVQVFLRRLLELHVFKLVALYTVWVALKEVSVMNLLLVVL
WAFALPYPRFRPMASCLSTVWTCVIIVCKMLYQLKVVNPQEYSSNCTEPFPNSTNLLPTE
ISQSLLYRGPVDPANWFGVRKGFPNLGYIQNHLQVLLLLVFEAIVYRRQEHYRRQHQLAP
LPAQAVFASGTRQQLDQDLLGCLKYFINFFFYKFGLEICFLMAVNVIGQRMNFLVTLHGC
WLVAILTRRHRQAIARLWPNYCLFLALFLLYQYLLCLGMPPALCIDYPWRWSRAVPMNSA
LIKWLYLPDFFRAPNSTNLISDFLLLLCASQQWQVFSAERTEEWQRMAGVNTDRLEPLRG
EPNPVPNFIHCRSYLDMLKVAVFRYLFWLVLVVVFVTGATRISIFGLGYLLACFYLLLFG
TALLQRDTRARLVLWDCLILYNVTVIISKNMLSLLACVFVEQMQTGFCWVIQLFSLVCTV
KGYYDPKEMMDRDQDCLLPVEEAGIIWDSVCFFFLLLQRRVFLSHYYLHVRADLQATALL
ASRGFALYNAANLKSIDFHRRIEEKSLAQLKRQMERIRAKQEKHRQGRVDRSRPQDTLGP
KDPGLEPGPDSPGGSSPPRRQWWRPWLDHATVIHSGDYFLFESDSEEEEEAVPEDPRPSA
QSAFQLAYQAWVTNAQAVLRRRQQEQEQARQEQAGQLPTGGGPSQEVEPAEGPEEAAAGR
SHVVQRVLSTAQFLWMLGQALVDELTRWLQEFTRHHGTMSDVLRAERYLLTQELLQGGEV
HRGVLDQLYTSQAEATLPGPTEAPNAPSTVSSGLGAEEPLSSMTDDMGSPLSTGYHTRSG
SEEAVTDPGEREAGASLYQGLMRTASELLLDRRLRIPELEEAELFAEGQGRALRLLRAVY
QCVAAHSELLCYFIIILNHMVTASAGSLVLPVLVFLWAMLSIPRPSKRFWMTAIVFTEIA
VVVKYLFQFGFFPWNSHVVLRRYENKPYFPPRILGLEKTDGYIKYDLVQLMALFFHRSQL
LCYGLWDHEEDSPSKEHDKSGEEEQGAEEGPGVPAATTEDHIQVEARVGPTDGTPEPQVE
LRPRDTRRISLRFRRRKKEGPARKGAAAIEAEDREEEEGEEEKEAPTGREKRPSRSGGRV
RAAGRRLQGFCLSLAQGTYRPLRRFFHDILHTKYRAATDVYALMFLADVVDFIIIIFGFW
AFGKHSAATDITSSLSDDQVPEAFLVMLLIQFSTMVVDRALYLRKTVLGKLAFQVALVLA
IHLWMFFILPAVTERMFNQNVVAQLWYFVKCIYFALSAYQIRCGYPTRILGNFLTKKYNH
LNLFLFQGFRLVPFLVELRAVMDWVWTDTTLSLSSWMCVEDIYANIFIIKCSRETEKKYP
QPKGQKKKKIVKYGMGGLIILFLIAIIWFPLLFMSLVRSVVGVVNQPIDVTVTLKLGGYE
PLFTMSAQQPSIIPFTAQAYEELSRQFDPQPLAMQFISQYSPEDIVTAQIEGSSGALWRI
SPPSRAQMKRELYNGTADITLRFTWNFQRDLAKGGTVEYANEKHMLALAPNSTARRQLAS
LLEGTSDQSVVIPNLFPKYIRAPNGPEANPVKQLQPNEEADYLGVRIQLRREQGAGATGF
LEWWVIELQECRTDCNLLPMVIFSDKVSPPSLGFLAGYGIMGLYVSIVLVIGKFVRGFFS
EISHSIMFEELPCVDRILKLCQDIFLVRETRELELEEELYAKLIFLYRSPETMIKWTREK
E
NT seq 7566 nt   +upstreamnt  +downstreamnt
atggagccgcacgtgctcggcgcggtcctgtactggctgctgctgccctgcgcgctgctg
gctgcctgcctgctccgcttcagcggactctcgctggtctacctgctcttcctgctgctg
ctgccctggttccccggccccacccgatgcggcctccaaggtcacacaggccgcctcctg
cgggcattgctgggcctcagcctgctcttcctggtggcccatctcgccctccagatctgc
ctgcatattgtgccccgcctggaccagctcctgggacccagctgcagccgctgggagacc
ctctcgcgacacataggggtcacaaggctggacctgaaggacatccccaacgccatccgg
ctggtggcccctgacctgggcatcttggtggtctcctctgtctgcctcggcatctgcggg
cgccttgcaaggaacacccggcagagcccacatccacgggagctggatgatgatgagagg
gatgtggatgccagcccgacggcagggctgcaggaagcagcaacgctggcccctacacgg
aggtcacggctggccgctcgtttccgagtcacggcccactggctgctggtggcggctggg
cgggtcctggccgtaacactgcttgcactggcaggcatcgcccacccctcggccctctcc
agtgtctacctgctgctcttcctggccctctgcacctggtgggcctgccactttcccatc
agcactcggggcttcagcagactctgcgtcgcggtggggtgcttcggcgccggccatctc
atctgcctctactgctaccagatgcccttggcacaggctctgctcccgcctgccggcatc
tgggctagggtgctgggtctcaaggacttcgtgggtcccaccaactgctccagcccccac
gcgctggtcctcaacaccggcctggactggcctgtgtatgccagccccggcgtcctcctg
ctgctgtgctacgccacggcctctctgcgcaagctccgcgcgtaccgcccctccggccag
aggaaggaggcggcaaaggggtatgaggctcgggagctggagctagcagagctggaccag
tggccccaggaacgggagtctgaccagcacgtggtgcccacagcacccgacaccgaggct
gataactgcatcgtgcacgagctgaccggccagagctccgtcctgcggcggcctgtgcgg
cccaagcgggctgagcccagggaggcgtctccgctccacagcctgggccacctcatcatg
gaccagagctatgtgtgcgcgctcattgccatgatggtatggagcatcacctaccacagc
tggctgaccttcgtactgctgctctgggcctgcctcatctggacggtgcgcagccgccac
caactggccatgctgtgctcgccctgcatcctgctgtatgggatgacgctgtgctgccta
cgctacgtgtgggccatggacctgcgccctgagctgcccaccaccctgggccccgtcagc
ctgcgccagctggggctggagcacacccgctacccctgtctggaccttggtgccatgttg
ctctacaccctgaccttctggctcctgctgcgccagtttgtgaaagagaagctgctgaag
tgggcagagtctccagctgcgctgacggaggtcaccgtggcagacacagagcccacgcgg
acgcagacgctgttgcagagcctgggggagctggtgaagggcgtgtacgccaagtactgg
atctatgtgtgtgctggcatgttcatcgtggtcagcttcgccggccgcctcgtggtctac
aagattgtctacatgttcctcttcctgctctgcctcaccctcttccaggtctactacagc
ctgtggcggaagctgctcaaggccttctggtggctcgtggtggcctacaccatgctggtc
ctcatcgccgtctacaccttccagttccaggacttccctgcctactggcgcaacctcact
ggcttcaccgacgagcagctgggggacctgggcctggagcagttcagcgtgtccgagctc
ttctccagcatcctggtgcccggcttcttcctcctggcctgcatcctgcagctgcactac
ttccacaggcccttcatgcagctcaccgacatggagcacgtgtccctgcctggcacgcgc
ctcccgcgctgggctcacaggcaggatgcagtgagtgggaccccactgctgcgggaggag
cagcaggagcatcagcagcagcagcaggaggaggaggaggaggaggaggactccagggac
gaggggctgggcgtggccactccccaccaggccacgcaggtgcctgaaggggcagccaag
tggggcctggtggctgagcggctgctggagctggcagccggcttctcggacgtcctctca
cgcgtgcaggtgttcctgcggcggctgctggagcttcacgttttcaagctggtggccctg
tacaccgtctgggtggccctgaaggaggtgtcggtgatgaacctgctgctggtggtgctg
tgggccttcgccctgccctacccacgcttccggcccatggcctcctgcctgtccaccgtg
tggacctgcgtcatcatcgtgtgtaagatgctgtaccagctcaaggttgtcaacccccag
gagtattccagcaactgcaccgagcccttccccaacagcaccaacttgctgcccacggag
atcagccagtccctgctgtaccgggggcccgtggaccctgccaactggtttggggtgcgg
aaagggttccccaacctgggctacatccagaaccacctgcaagtgctgctgctgctggta
ttcgaggccatcgtgtaccggcgccaggagcactaccgccggcagcaccagctggccccg
ctgcctgcccaggccgtgtttgccagcggcacccgccagcagctggaccaggatctgctc
ggctgcctcaagtacttcatcaacttcttcttctacaaattcgggctggagatctgcttc
ctgatggccgtgaacgtgatcgggcagcgcatgaactttctggtgaccctgcacggttgc
tggctggtggccatcctcacccgcaggcaccgccaggccattgcccgcctctggcccaac
tactgcctcttcctggcgctgttcctgctgtaccagtacctgctgtgcctggggatgccc
ccggccctgtgcattgattatccctggcgctggagccgggccgtccccatgaactccgca
ctcatcaagtggctgtacctgcctgatttcttccgggcccccaactccaccaacctcatc
agcgactttctcctgctgctgtgcgcctcccagcagtggcaggtgttctcagctgagcgc
acagaggagtggcagcgcatggctggcgtcaacaccgaccgcctggagccgctgcggggg
gagcccaaccccgtgcccaactttatccactgcaggtcctaccttgacatgctgaaggtg
gccgtcttccgatacctgttctggctggtgctggtggtggtgtttgtcacgggggccacc
cgcatcagcatcttcgggctgggctacctgctggcctgcttctacctgctgctcttcggc
acggccctgctgcagagggacacacgggcccgcctcgtgctgtgggactgcctcattctg
tacaacgtcaccgtcatcatctccaagaacatgctgtcgctcctggcctgcgtcttcgtg
gagcagatgcagaccggcttctgctgggtcatccagctcttcagccttgtatgcaccgtc
aagggctactatgaccccaaggagatgatggacagagaccaggactgcctgctgcctgtg
gaggaggctggcatcatctgggacagcgtctgcttcttcttcctgctgctgcagcgccgc
gtcttccttagccattactacctgcacgtcagggccgacctccaggccaccgccctgcta
gcctccaggggcttcgccctctacaacgctgccaacctcaagagcattgactttcaccgc
aggatagaggagaagtccctggcccagctgaaaagacagatggagcgtatccgtgccaag
caggagaagcacaggcagggccgggtggaccgcagtcgcccccaggacaccctgggcccc
aaggaccccggcctggagccagggcccgacagtccagggggctcctccccgccacggagg
cagtggtggcggccctggctggaccacgccacagtcatccactccggggactacttcctg
tttgagtccgacagtgaggaagaggaggaggctgttcctgaagacccgaggccgtcggca
cagagtgccttccagctggcgtaccaggcatgggtgaccaacgcccaggcggtgctgagg
cggcggcagcaggagcaggagcaggcaaggcaggaacaggcaggacagctacccacagga
ggtggtcccagccaggaggtggagccagcagagggccccgaggaggcagcggcaggccgg
agccatgtggtgcagagggtgctgagcacggcgcagttcctgtggatgctggggcaggcg
ctagtggatgagctgacacgctggctgcaggagttcacccggcaccacggcaccatgagc
gacgtgctgcgggcagagcgctacctcctcacacaggagctcctgcagggcggcgaagtg
cacaggggcgtgctggatcagctgtacacaagccaggccgaggccacgctgccaggcccc
accgaggcccccaatgccccaagcaccgtgtccagtgggctgggcgcggaggagccactc
agcagcatgacagacgacatgggcagccccctgagcaccggctaccacacgcgcagtggc
agtgaggaggcagtcaccgaccccggggagcgtgaggctggtgcctctctgtaccaggga
ctgatgcggacggccagcgagctgctcctggacaggcgcctgcgcatcccagagctggag
gaggcagagctgtttgcggaggggcagggccgggcgctgcggctgctgcgggccgtgtac
cagtgtgtggccgcccactcggagctgctctgctacttcatcatcatcctcaaccacatg
gtcacggcctccgccggctcgctggtgctgcccgtgctcgtcttcctgtgggccatgctg
tcgatcccgaggcccagcaagcgcttctggatgacggccatcgtcttcaccgagatcgcg
gtggtcgtcaagtacctgttccagtttgggttcttcccctggaacagccacgtggtgctg
cggcgctacgagaacaagccctacttcccgccccgcatcctgggcctggagaagactgac
ggctacatcaagtacgacctggtgcagctcatggcccttttcttccaccgctcccagctg
ctgtgctatggcctctgggaccatgaggaggactcaccatccaaggagcatgacaagagc
ggcgaggaggagcagggagccgaggaggggccaggggtgcctgcggccaccaccgaagac
cacattcaggtggaagccagggtcggacccacggacgggaccccagaaccccaagtggag
ctcaggccccgtgatacgaggcgcatcagtctacgttttagaagaaggaagaaggagggc
ccagcacggaaaggagcggcagccatcgaagctgaggacagggaggaagaagagggggag
gaagagaaagaggcccccacggggagagagaagaggccaagccgctctggaggaagagta
agggcggccgggcggcggctgcagggcttctgcctgtccctggcccagggcacatatcgg
ccgctacggcgcttcttccacgacatcctgcacaccaagtaccgcgcagccaccgacgtc
tatgccctcatgttcctggctgatgttgtcgacttcatcatcatcatttttggcttctgg
gcctttgggaagcactcggcggccacagacatcacgtcctccctatcagacgaccaggta
cccgaggctttcctggtcatgctgctgatccagttcagtaccatggtggttgaccgcgcc
ctctacctgcgcaagaccgtgctgggcaagctggccttccaggtggcgctggtgctggcc
atccacctatggatgttcttcatcctgcccgccgtcactgagaggatgttcaaccagaat
gtggtggcccagctctggtacttcgtgaagtgcatctacttcgccctgtccgcctaccag
atccgctgcggctaccccacccgcatcctcggcaacttcctcaccaagaagtacaatcat
ctcaacctcttcctcttccaggggttccggctggtgccgttcctggtggagctgcgggca
gtgatggactgggtgtggacggacaccacgctgtccctgtccagctggatgtgtgtggag
gacatctatgccaacatcttcatcatcaaatgcagccgagagacagagaagaaatacccg
cagcccaaagggcagaagaagaagaagatcgtcaagtacggcatgggtggcctcatcatc
ctcttcctcatcgccatcatctggttcccactgctcttcatgtcgctggtgcgctccgtg
gttggggttgtcaaccagcccatcgatgtcaccgtcaccctgaagctgggcggctatgag
ccgctgttcaccatgagcgcccagcagccgtccatcatccccttcacggcccaggcctat
gaggagctgtcccggcagtttgacccccagccgctggccatgcagttcatcagccagtac
agccctgaggacatcgtcacggcgcagattgagggcagctccggggcgctgtggcgcatc
agtccccccagccgtgcccagatgaagcgggagctctacaacggcacggccgacatcacc
ctgcgcttcacctggaacttccagagggacctggcgaagggaggcactgtggagtatgcc
aacgagaagcacatgctggccctggcccccaacagcactgcacggcggcagctggccagc
ctgctcgagggcacctcggaccagtctgtggtcatccctaatctcttccccaagtacatc
cgtgcccccaacgggcccgaagccaaccctgtgaagcagctgcagcccaatgaggaggcc
gactacctcggcgtgcgtatccagctgcggagggagcagggtgcgggggccaccggcttc
ctcgaatggtgggtcatcgagctgcaggagtgccggaccgactgcaacctgctgcccatg
gtcattttcagtgacaaggtcagcccaccgagcctcggcttcctggctggctacggcatc
atggggctgtacgtgtccatcgtgctggtcatcggcaagttcgtgcgcggattcttcagc
gagatctcgcactccattatgttcgaggagctgccgtgcgtggaccgcatcctcaagctc
tgccaggacatcttcctggtgcgggagactcgggagctggagctggaggaggagttgtac
gccaagctcatcttcctctaccgctcaccggagaccatgatcaagtggactcgtgagaag
gagtag

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Ontology (3)   
   KEGG BRITE (3)   
Disease (8)   
   KEGG DISEASE (4)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (46)   
   KEGG ORTHOLOGY (1)   
   RefGene (38)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (37)   
   RefSeq(nuc) (1)   
   GenBank (18)   
   EMBL (18)   
Protein domain (2)   
   Pfam (2)   
All databases (100)   

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