KEGG   Homo sapiens (human): 54903Help
Entry
54903             CDS       T01001                                 

Gene name
MKS1, BBS13, MES, MKS, POC12
Definition
(RefSeq) Meckel syndrome, type 1
  KO
K19332  
Meckel syndrome type 1 protein
Organism
hsa  Homo sapiens (human)
Disease
H00261  
Meckel syndrome (MKS)
H00418  
Bardet-Biedl syndrome (BBS)
Brite
Chromosome [BR:hsa03036]
 Eukaryotic Type
  Centrosome formation and ciliogenesis proteins
   TCTN-B9D complex
    54903 (MKS1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-ProteinID: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
17q22
AA seq 559 aa AA seqDB search
MAETVWSTDTGEAVYRSRDPVRNLRLRVHLQRITSSNFLHYQPAAELGKDLIDLATFRPQ
PTASGHRPEEDEEEEIVIGWQEKLFSQFEVDLYQNETACQSPLDYQYRQEILKLENSGGK
KNRRIFTYTDSDRYTNLEEHCQRMTTAASEVPSFLVERMANVRRRRQDRRGMEGGILKSR
IVTWEPSEEFVRNNHVINTPLQTMHIMADLGPYKKLGYKKYEHVLCTLKVDSNGVITVKP
DFTGLKGPYRIETEGEKQELWKYTIDNVSPHAQPEEEERERRVFKDLYGRHKEYLSSLVG
TDFEMTVPGALRLFVNGEVVSAQGYEYDNLYVHFFVELPTAHWSSPAFQQLSGVTQTCTT
KSLAMDKVAHFSYPFTFEAFFLHEDESSDALPEWPVLYCEVLSLDFWQRYRVEGYGAVVL
PATPGSHTLTVSTWRPVELGTVAELRRFFIGGSLELEDLSYVRIPGSFKGERLSRFGLRT
ETTGTVTFRLHCLQQSRAFMESSSLQKRMRSVLDRLEGFSQQSSIHNVLEAFRRARRRMQ
EARESLPQDLVSPSGTLVS
NT seq 1680 nt NT seq  +upstreamnt  +downstreamnt
atggcggagaccgtctggagcactgacaccggggaggcagtgtatcgctcccgggacccc
gtgcgcaacttgcgcctccgagtccacctgcaaagaatcacatcaagcaactttcttcat
tatcagcctgctgccgagctcgggaaggacctcatagacttggccacttttaggcctcag
ccaactgccagtggacaccgcccagaggaagacgaagaggaggagattgtgattgggtgg
caggagaagctctttagccagtttgaagtagatctgtaccaaaatgaaacagcctgtcag
agtcctttggattatcagtaccgtcaggagatcctgaagctggagaattcgggtggcaag
aaaaaccgacgaatctttacctacactgactctgatagatacaccaatttggaggagcac
tgtcagagaatgaccactgcagccagcgaggtgccttcattcttggtcgagcgaatggca
aatgtcaggcgtcgccggcaggacaggcgagggatggagggcggcatcctcaagtcacgc
atcgtcacctgggagccctcagaagagtttgtcaggaacaaccacgtcattaacacccct
cttcagacaatgcacatcatggcagacctggggccctataaaaagcttggctataagaag
tatgaacatgtcctgtgtactctgaaggtggatagcaatggtgtgatcacagtaaagcct
gacttcacgggcctcaaaggaccctacaggattgagacggagggggagaagcaggagctg
tggaaatatacgatcgacaatgtttccccccacgcacagccggaggaggaggagcgggaa
cggcgagtgttcaaggatctttatggccggcacaaggagtatctcagcagcctcgtaggc
accgactttgagatgactgtcccaggtgccctccggctctttgtaaatggagaggtcgtt
tcagcccaaggctatgagtatgacaatctctacgtccacttctttgtagaattgccaact
gctcactggtcaagcccagcattccagcagctctcaggagtaacacagacctgcaccacc
aagtccctggcaatggacaaggtggctcacttctcctacccattcacgtttgaagccttc
ttcctccatgaggatgaatcttctgatgcactcccggagtggcctgtgctctactgtgag
gtcctctcgctggacttctggcagaggtaccgtgtggaaggctatggggctgtggtgctg
cctgccactccaggctcacacaccctgacagtctccacgtggagacctgtggagcttggc
acggtggctgagctgaggaggtttttcattggcggttctctggaactggaggacctctcc
tatgtacggataccaggatccttcaagggggaacgcctgagccgctttggactccgcaca
gagaccacaggcactgtcaccttccgcttgcactgtctgcagcagtccagggccttcatg
gaatcgagctcccttcagaaaaggatgcggagtgtgttggaccgtctggaagggttcagc
cagcagagttccattcacaatgtgctagaggccttccgtcgagcccggcgccgcatgcag
gaggcccgggaaagcctcccgcaggacctagtgagcccctctggaaccctggtctcctag

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