KEGG   Homo sapiens (human): 54903
Entry
54903             CDS       T01001                                 
Symbol
MKS1, BBS13, JBTS28, MES, MKS, POC12
Name
(RefSeq) MKS transition zone complex subunit 1
  KO
K19332  Meckel syndrome type 1 protein
Organism
hsa  Homo sapiens (human)
Disease
H00261  Meckel syndrome
H00418  Bardet-Biedl syndrome
H00530  Joubert syndrome and related disorders
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    54903 (MKS1)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  MKS complex
   54903 (MKS1)
SSDB
Motif
Pfam: B9-C2 FUSC
Other DBs
NCBI-GeneID: 54903
NCBI-ProteinID: NP_060247
OMIM: 609883
HGNC: 7121
Ensembl: ENSG00000011143
UniProt: Q9NXB0
Position
17:complement(58205441..58219255)
AA seq 559 aa
MAETVWSTDTGEAVYRSRDPVRNLRLRVHLQRITSSNFLHYQPAAELGKDLIDLATFRPQ
PTASGHRPEEDEEEEIVIGWQEKLFSQFEVDLYQNETACQSPLDYQYRQEILKLENSGGK
KNRRIFTYTDSDRYTNLEEHCQRMTTAASEVPSFLVERMANVRRRRQDRRGMEGGILKSR
IVTWEPSEEFVRNNHVINTPLQTMHIMADLGPYKKLGYKKYEHVLCTLKVDSNGVITVKP
DFTGLKGPYRIETEGEKQELWKYTIDNVSPHAQPEEEERERRVFKDLYGRHKEYLSSLVG
TDFEMTVPGALRLFVNGEVVSAQGYEYDNLYVHFFVELPTAHWSSPAFQQLSGVTQTCTT
KSLAMDKVAHFSYPFTFEAFFLHEDESSDALPEWPVLYCEVLSLDFWQRYRVEGYGAVVL
PATPGSHTLTVSTWRPVELGTVAELRRFFIGGSLELEDLSYVRIPGSFKGERLSRFGLRT
ETTGTVTFRLHCLQQSRAFMESSSLQKRMRSVLDRLEGFSQQSSIHNVLEAFRRARRRMQ
EARESLPQDLVSPSGTLVS
NT seq 1680 nt   +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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (7)   
   KEGG DISEASE (3)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (8)   
   KEGG ORTHOLOGY (1)   
   RefGene (1)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (22)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (20)   
DNA sequence (42)   
   RefSeq(nuc) (20)   
   GenBank (11)   
   EMBL (11)   
Protein domain (2)   
   Pfam (2)   
All databases (84)   

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