KEGG   Homo sapiens (human): 168507
Entry
168507            CDS       T01001                                 
Symbol
PKD1L1, HTX8, PRO19563
Name
(RefSeq) polycystin 1 like 1, transient receptor potential channel interacting
  KO
K04987  polycystin 1L1
Organism
hsa  Homo sapiens (human)
Disease
H00632  Heterotaxy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    168507 (PKD1L1)
   04040 Ion channels [BR:hsa04040]
    168507 (PKD1L1)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  Other primary cilia associated proteins
   168507 (PKD1L1)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Transient receptor potential channel (TRP)
   168507 (PKD1L1)
SSDB
Motif
Pfam: REJ PKD Polycystin_dom PLAT PKD_4 PKD_channel Glyco_trans_2_3 Ion_trans
Other DBs
NCBI-GeneID: 168507
NCBI-ProteinID: NP_612152
OMIM: 609721
HGNC: 18053
Ensembl: ENSG00000158683
UniProt: Q8TDX9
Position
7:complement(47774614..47960906)
AA seq 2849 aa
MAEEAAQNISDDQERCLQAACCLSFGGELSVSTDKSWGLHLCSCSPPGGGLWVEVYANHV
LLMSDGKCGCPWCALNGKAEDRESQSPSSSASRQKNIWKTTSEAALSVVNEKTQAVVNEK
TQAPLDCDNSADRIPHKPFIIIARAWSSGGPRFHHRRLCATGTADSTFSALLQLQGTTSA
AAPCSLKMEASCCVLRLLCCAEDVATGLLPGTVTMETPTKVARPTQTSSQRVPLWPISHF
PTSPRSSHGLPPGIPRTPSFTASQSGSEILYPPTQHPPVAILARNSDNFMNPVLNCSLEV
EARAPPNLGFRVHMASGEALCLMMDFGDSSGVEMRLHNMSEAMAVTAYHQYSKGIFFHLL
HFQLDMSTYKEAETQNTTLNVYLCQSENSCLEDSDPSNLGYELISAFVTKGVYMLKAVIY
NEFHGTEVELGPYYVEIGHEAVSAFMNSSSVHEDEVLVFADSQVNQKSTVVIHHFPSIPS
YNVSFISQTQVGDSQAWHSMTVWYKMQSVSVYTNGTVFATDTDITFTAVTKETIPLEFEW
YFGEDPPVRTTSRSIKKRLSIPQWYRVMVKASNRMSSVVSEPHVIRVQKKIVANRLTSPS
SALVNASVAFECWINFGTDVAYLWDFGDGTVSLGSSSSSHVYSREGEFTVEVLAFNNVSA
STLRQQLFIVCEPCQPPLVKNMGPGKVQIWRSQPVRLGVTFEAAVFCDISQGLSYTWNLM
DSEGLPVSLPAAVDTHRQTLILPSHTLEYGNYTALAKVQIEGSVVYSNYCVGLEVRAQAP
VSVISEGTHLFFSRTTSSPIVLRGTQSFDPDDPGATLRYHWECATAGSPAHPCFDSSTAH
QLDAAAPTVSFEAQWLSDSYDQFLVMLRVSSGGRNSSETRVFLSPYPDSAFRFVHISWVS
FKDTFVNWNDELSLQAMCEDCSEIPNLSYSWDLFLVNATEKNRIEVPFCRVVGLLGSLGL
GAISESSQLNLLPTEPGTADPDATTTPFSREPSPVTLGQPATSAPRGTPTEPMTGVYWIP
PAGDSAVLGEAPEEGSLDLEPGPQSKGSLMTGRSERSQPTHSPDPHLSDFEAYYSDIQEA
IPSGGRQPAKDTSFPGSGPSLSAEESPGDGDNLVDPSLSAGRAEPVLMIDWPKALLGRAV
FQGYSSSGITEQTVTIKPYSLSSGETYVLQVSVASKHGLLGKAQLYLTVNPAPRDMACQV
QPHHGLEAHTVFSVFCMSGKPDFHYEFSYQIGNTSKHTLYHGRDTQYYFVLPAGEHLDNY
KVMVSTEITDGKGSKVQPCTVVVTVLPRYHGNDCLGEDLYNSSLKNLSTLQLMGSYTEIR
NYITVITRILSRLSKEDKTASCNQWSRIQDALISSVCRLAFVDQEEMIGSVLMLRDLVSF
SNKLGFMSAVLILKYTRALLAQGQFSGPFVIDKGVRLELIGLISRVWEVSEQENSKEEVY
RHEEGITVISDLLLGCLSLNHVSTGQMEFRTLLHYNLQSSVQSLGSVQVHLPGDLAGHSP
AGAETQSPCYISQLILFKKNPYPGSQAPGQIGGVVGLNLYTCSSRRPINRQWLRKPVMVE
FGEEDGLDNRRNKTTFVLLRDKVNLHQFTELSENPQESLQIEIEFSKPVTRAFPVMLLVR
FSEKPTPSDFLVKQIYFWDESIVQIYIPAASQKDASVGYLSLLDADYDRKPPNRYLAKAV
NYTVHFQWIRCLFWDKREWKSERFSPQPGTSPEKVNCSYHRLAAFALLRRKLKASFEVSD
ISKLQSHPENLLPSIFIMGSVILYGFLVAKSRQVDHHEKKKAGYIFLQEASLPGHQLYAV
VIDTGFRAPARLTSKVYIVLCGDNGLSETKELSCPEKPLFERNSRHTFILSAPAQLGLLR
KIRLWHDSRGPSPGWFISHVMVKELHTGQGWFFPAQCWLSAGRHDGRVERELTCLQGGLG
FRKLFYCKFTEYLEDFHVWLSVYSRPSSSRYLHTPRLTVSFSLLCVYACLTALVAAGGQE
QPHLDVSPTLGSFRVGLLCTLLASPGAQLLSLLFRLSKEAPGSARVEPHSPLRGGAQTEA
PHGPNSWGRIPDAQEPRKQPASAILSGSGRAQRKAASDNGTACPAPKLQVHGADHSRTSL
MGKSHCCPPHTQAPSSGLEGLMPQWSRALQPWWSSAVWAICGTASLACSLGTGFLAYRFG
QEQCVQWLHLLSLSVVCCIFITQPLMVCLMALGFAWKRRADNHFFTESLCEATRDLDSEL
AERSWTRLPFSSSCSIPDCAGEVEKVLAARQQARHLRWAHPPSKAQLRGTRQRMRRESRT
RAALRDISMDILMLLLLLCVIYGRFSQDEYSLNQAIRKEFTRNARNCLGGLRNIADWWDW
SLTTLLDGLYPGGTPSARVPGAQPGALGGKCYLIGSSVIRQLKVFPRHLCKPPRPFSALI
EDSIPTCSPEVGGPENPYLIDPENQNVTLNGPGGCGTREDCVLSLGRTRTEAHTALSRLR
ASMWIDRSTRAVSVHFTLYNPPTQLFTSVSLRVEILPTGSLVPSSLVESFSIFRSDSALQ
YHLMLPQLVFLALSLIHLCVQLYRMMDKGVLSYWRKPRNWLELSVVGVSLTYYAVSGHLV
TLAGDVTNQFHRGLCRAFMDLTLMASWNQRARWLRGILLFLFTLKCVYLPGIQNTMASCS
SMMRHSLPSIFVAGLVGALMLAALSHLHRFLLSMWVLPPGTFTDAFPGLLFHFPRRSQKD
CLLGLSKSDQRAMACYFGILLIVSATLCFGMLRGFLMTLPQKRKSFQSKSFVRLKDVTAY
MWEKVLTFLRLETPKLEEAEMVENHNYYLDEFANLLDELLMKINGLSDSLQLPLLEKTSN
NTGEARTEESPLVDISSYQAAEPADIKDF
NT seq 8550 nt   +upstreamnt  +downstreamnt
atggccgaggaggcagcccagaacatttctgatgaccaggaaaggtgtctccaggctgcc
tgctgcctttcctttggtggtgagctgtctgtgagcactgacaagagctggggtcttcat
ctgtgcagctgtagccctcctggaggtggattgtgggtcgaggtctatgctaatcatgtg
cttcttatgagtgatgggaagtgtggctgtccttggtgtgctctgaatggaaaggcagaa
gaccgggaatcacagagcccatcctcatcagcttccaggcagaagaacatttggaaaaca
actagtgaagcagcgttaagtgttgttaatgaaaaaacacaggctgttgttaatgaaaaa
acacaggcgcctctggattgtgataacagtgctgatagaattccccacaaacctttcatt
ataatcgcaagggcctggagcagtggtggccccaggttccatcacaggcggctgtgtgct
actgggaccgcagacagcacattctctgctcttctccagctccagggcaccacttctgca
gcagctccctgcagcctgaagatggaggcttcctgctgtgtcctgagactgctgtgctgt
gcggaggatgtggccacggggctgcttcctgggactgtcacgatggagacccccaccaag
gtggccagacccactcagaccagctcccagcgagtgcccctgtggccgatttcacatttt
cccacttctcccagaagctcccacggccttccgcctggcattcctcgcacccccagcttc
acggcatcgcagtctggttctgagatcctctatccccctactcagcatcctcctgtggcc
atcctagctcgaaattctgataacttcatgaaccctgttcttaattgctccctggaagtg
gaagctcgggcacctccaaatctgggattccgtgttcatatggcttctggagaggctctc
tgtctgatgatggatttcggggacagttctggggttgaaatgaggctacacaacatgtct
gaggcaatggcggtgactgcctaccaccagtactcaaaaggtattttttttcatctttta
cattttcagttggatatgtccacctacaaagaagcagagacacaaaatacaactttaaat
gtttacttgtgccaaagtgaaaacagctgcctggaagactcagaccccagtaaccttgga
tatgagcttatttctgcctttgtcaccaaaggagtctatatgctcaaggctgttatttat
aacgagtttcatggaaccgaagtggagcttgggccttattatgtggagattggccatgag
gccgtgtctgcgttcatgaactccagcagtgtccatgaagatgaagtgcttgtctttgct
gactcccaagtgaatcagaaaagcactgtggttatacatcactttccatctattccttca
tataacgtgtcctttatttctcagactcaagtgggtgacagccaggcttggcacagcatg
actgtctggtataagatgcaatccgtctctgtctacacaaatggaactgtgtttgccaca
gacacagacattacatttacagctgttaccaaggaaacaatacccctggaatttgagtgg
tattttggagaggatccaccagtgaggacaacttcaagaagcattaaaaaaagactcagc
atcccccaatggtatcgtgtgatggttaaggcttccaacaggatgagcagtgtggtctct
gagccccatgtcatcagggtgcagaagaaaattgtggccaatcggctcacgtccccctcc
tcagctctggtaaatgccagtgtggcctttgagtgctggatcaacttcggcacagatgtt
gcctacctgtgggactttggggatggcaccgtcagcctggggagcagctccagcagccat
gtctacagtagggaaggagaatttacagtggaggtccttgccttcaataatgtcagtgcc
tccactctaagacagcaacttttcatcgtgtgcgagccctgccagccacccctggtgaag
aacatggggcctgggaaagtccagatatggaggtctcagcctgtgaggctgggagtgacg
tttgaagctgcagtcttctgtgatatttcccaaggtctttcttacacctggaacttgatg
gactctgaagggctccctgtctccctccctgctgctgtggacactcacagacagaccctc
atcctcccgagccacaccttggagtatgggaactacactgcccttgccaaggttcagatt
gaaggcagtgtggtgtacagcaactactgtgtgggcctggaggtgcgagcccaggcccct
gtcagtgtgatctccgagggcacacacctattcttctccaggaccacctcatcccccatt
gtcctcagagggacccagtccttcgaccctgacgaccctggggcgactctcaggtatcac
tgggaatgcgccaccgctggctccccagcacatccctgcttcgactcctccactgcacac
caactggatgccgcggctcccactgtttcctttgaggcacaatggctcagtgacagctat
gatcagttccttgtgatgctgagggtctccagtggtggccggaactcttctgagacccgg
gtgttcctgtccccctaccctgactcggcgttcagattcgtccacatctcctgggtcagc
tttaaagacaccttcgtcaactggaatgacgaactctctcttcaagctatgtgtgaggac
tgcagtgaaataccgaatctgtcttattcctgggatctctttttagtcaatgcaacagaa
aagaataggatagaagttcccttctgcagagtagtggggctgcttggctcgctgggactc
ggtgccatttcagagtcatcacagttaaacctgctgcccactgagcctggcactgcagat
cctgatgcaacgaccacaccattctcacgggaaccttcacccgtgacccttggccaacct
gccacttcagctccaaggggaacccccacagagcccatgactggagtctactggattcct
cctgcgggggactctgcagtcctgggggaggctccagaggaaggttcactagacctagag
ccagggccacagagcaagggatccctgatgactggccgctctgagagaagtcagcccacc
cacagccctgaccctcacctctctgattttgaagcctattacagtgacattcaagaagca
ataccatcgggaggaagacagccagctaaggacaccagctttccaggatcaggacctagc
ttgagtgccgaggagagccctggagatggggataacctggtggacccctccctgtctgca
ggcagagccgagcctgtcctcatgattgactggcccaaggccctgctgggtcgagcagtt
ttccaaggctattcatcctcaggtattacagaacagacagtgacaatcaagccatactct
ctgagcagtggagagacgtacgtcctgcaagtgtctgtggcttcgaagcatggcttactg
ggtaaagctcagctgtacttgacagtcaacccggctcctcgggacatggcctgtcaggtg
cagccccaccatggtctggaagcacacaccgtcttcagtgtcttctgcatgtctggaaaa
ccggacttccattatgaatttagttaccagataggaaacacctccaaacacactttgtac
catgggagagacacccagtattattttgtgttgccagctggtgagcacttggacaattac
aaagtcatggtttccactgaaatcacagatggcaaaggctccaaggtccagccgtgcact
gtggtggtgactgtgctgccccgctaccatggaaatgactgtctgggcgaggacctgtat
aattccagcctgaaaaacctttctaccctccagctgatggggagttacacagaaatcagg
aactacatcactgtgatcaccagaatcctgagtcgtttgtctaaggaggacaaaactgcc
tcctgcaaccaatggtcacgaatacaggatgcattaatttcttcagtatgcagattggct
tttgtagatcaggaagaaatgattggttctgttcttatgttgagggacctcgtgagcttc
tctaataagctaggctttatgagtgcggttctcatcctcaagtacacccgggcactcctt
gctcaaggccagttctcggggccatttgtgattgacaaaggagtgaggcttgagctcatc
ggtctcatatccagagtctgggaagtctctgagcaagaaaactcgaaggaggaagtctat
cgacatgaagaaggaattacagtcatctcagatttattgttgggttgtctctctttgaac
catgttagcactgggcagatggagttccggacccttcttcattacaaccttcagagctct
gtccagagcctgggatctgtccaggtgcatttacctggtgaccttgctgggcacagtcct
gctggggcggagacacagagcccatgctacattagccagctcatactcttcaagaagaac
ccatatccagggagccaagctcctgggcagattggtggagttgtgggcctcaacctctat
acctgctccagcagaagacccatcaacaggcaatggctaaggaaacccgtgatggtcgag
tttggggaggaggatggcctggataataggagaaataaaacgacatttgtattacttcgg
gataaagtgaatctccatcagttcactgagctttccgaaaacccccaggaatctctacag
atagaaattgaattttccaaacctgttacaagggcatttcccgtcatgttgctagtaaga
ttctctgagaaacctactccctctgattttcttgtgaagcagatctacttctgggatgag
tcaattgtgcagatttatatacctgctgcttctcagaaagatgccagtgtaggctattta
tccttattggatgctgactatgacagaaaacctccaaacagatatttagctaaggcagtg
aactatacagtacatttccagtggatccgatgcctgttttgggacaagagagagtggaaa
tctgaacgtttctctccacaaccagggacttctcctgaaaaagtgaactgcagctaccat
cgcctcgcggcattcgctctcctaaggagaaagctgaaggccagttttgaagtgagtgac
atttccaagctacagagccacccagaaaacttgcttcccagtatttttattatgggttct
gtgattctttatggatttttggtcgctaaaagtagacaagtagatcatcatgaaaaaaag
aaagctggttacatctttctgcaagaagcttccctgccgggccatcagctatatgcggtc
gtcattgacactggcttccgagctccggccaggttgacctcaaaggtgtacattgtttta
tgtggcgacaatggactgtcagaaaccaaggagctctcctgtccagagaagcccctgttt
gaaaggaattccagacacacctttatcctgagcgctcctgcccaactgggcctgctgagg
aagatccgcctctggcacgacagccgtgggccttccccaggctggttcatcagccacgtg
atggtgaaggagctgcacacgggacagggctggttcttccctgcccagtgctggctgtct
gccggcaggcatgatggtcgcgtggagcgggagctcacctgtctgcaagggggactcggc
ttccggaagcttttctattgcaagttcacagagtacctggaggatttccatgtctggctg
tcggtgtacagcaggccctcctccagccgctacctgcacacgccgcgcctcaccgtgtcc
ttctccctgctgtgcgtctacgcgtgtctcactgccctggttgctgctggagggcaagag
cagccccacttggacgtcagccccacccttggatccttcagggtgggtctcctgtgtacc
ctcctggcttctccaggggcccagctcttgtccctgctcttcaggctcagcaaggaagcc
ccggggtctgcccgagtggagccacacagcccacttagaggaggagcacagaccgaggca
ccccatggtcctaattcctggggaaggataccagacgcacaggagccacgcaagcaacct
gcatcagccattctctctgggagtggcagggcccaaaggaaggcggcaagtgacaatggc
acagcttgtccagcccctaagctgcaggttcatggggctgaccacagcaggacttctctg
atggggaaaagccactgctgccctccccacactcaagcacccagcagtggtttggaggga
ctaatgccccagtggtcaagggcccttcagccttggtggagctctgcagtgtgggccatt
tgtgggaccgcttctttggcctgcagtttggggacaggatttctagcctacaggtttggc
caggagcaatgtgtgcagtggctgcacctgctgtccctctccgtggtctgctgtattttc
atcacccagccacttatggtatgcctcatggccttgggttttgcttggaaaagaagagct
gacaaccacttttttactgagtctttatgtgaggctaccagggatctggactctgaattg
gcagaacgttcctggactcgcctccccttctcttcaagctgcagtattcctgactgtgca
ggcgaggttgaaaaagtcttggctgcccgacaacaagctcgccacctgcgctgggcgcat
ccaccatccaaggcccagctgaggggcaccagacagaggatgaggagagagagtcgcaca
cgggctgccctgagagacatttccatggacatcctcatgctgcttctgcttttgtgtgta
atatatgggagattttcccaagatgaatactccctcaatcaagctatccggaaagaattt
acaagaaatgccagaaactgcttgggtggcctgagaaacatcgctgactggtgggactgg
agtctgaccacacttctggatggcctgtacccgggaggcaccccgtcagcccgtgtgccg
ggggctcagcctggagctcttggaggaaaatgctacctaataggcagttccgtaattagg
cagctaaaagtttttcctaggcatttatgcaagcctcccaggccattttcagcactcatc
gaagactctattcctacatgtagtcccgaagttggaggccctgagaacccctacctgata
gacccagagaaccaaaacgtgaccctgaatggtcctgggggctgtgggacaagggaggac
tgtgtgctcagcctgggcagaacaaggactgaagcccacacagccctgtcccgactcagg
gccagcatgtggattgaccgcagcaccagggctgtgtctgtgcacttcactctctataac
cctccaacccaactcttcaccagcgtgtccctgagagtggagatcctccctacggggagt
ctcgtcccctcatccctggtggagtcattcagcatcttccgcagcgactcagccctgcag
taccacctcatgcttccccagctggtcttcctggcactcagcctgatccacctctgtgtt
caactctaccgtatgatggacaagggcgtcctcagctactggcgaaagccaaggaactgg
ctggagctctccgtggttggagtgagcctcacctactatgcagtttccggccaccttgtt
actcttgctggagatgtcactaaccagtttcacagaggactttgccgagcatttatggac
ctcacccttatggcatcatggaatcagagggctcgatggctccggggaatcctcttattc
ctcttcacattaaaatgcgtctatcttcctggcattcaaaacacaatggcatcctgctcc
tccatgatgcgccactcactccccagcatctttgtagcagggctggtgggggcactgatg
ctggccgccctctcccacctgcaccgatttctgctctctatgtgggttctaccacctggc
accttcacagacgccttccccgggctgctgtttcattttcccagaagaagccaaaaagac
tgcctccttggcctttccaagtctgaccagcgggccatggcttgttactttgggatcctt
ttaatagtctctgccacactgtgttttggaatgctgagaggttttctcatgactttaccc
caaaaaagaaaatcttttcaaagtaaatcttttgtgagacttaaagatgtcactgcttat
atgtgggaaaaggtcctcacctttctgagactggaaacaccaaagttggaagaggctgag
atggttgagaatcacaattactacttggatgaatttgcaaatctgttagacgaacttctg
atgaagattaatggtttgtccgacagcctacaactcccccttctggaaaaaacatccaac
aacacaggggaggcaaggacagaagagagtcccttagtggacatttctagttaccaagct
gctgagccagcagacatcaaggacttctga

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (92)   
   KEGG ORTHOLOGY (1)   
   RefGene (86)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (15)   
   RefSeq(nuc) (3)   
   GenBank (6)   
   EMBL (6)   
Protein domain (8)   
   Pfam (8)   
All databases (127)   

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