KEGG   Homo sapiens (human): 27077
Entry
27077             CDS       T01001                                 
Symbol
B9D1, B9, EPPB9, JBTS27, MKS9, MKSR-1, MKSR1
Name
(RefSeq) B9 domain containing 1
  KO
K16744  B9 domain-containing protein 1
Organism
hsa  Homo sapiens (human)
Disease
H00261  Meckel 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]
    27077 (B9D1)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  MKS complex
   27077 (B9D1)
SSDB
Motif
Pfam: B9-C2
Other DBs
NCBI-GeneID: 27077
NCBI-ProteinID: NP_056496
OMIM: 614144
HGNC: 24123
Ensembl: ENSG00000108641
UniProt: Q9UPM9 B4DEW0
Position
17:complement(19334695..19377913)
AA seq 204 aa
MATASPSVFLLMVNGQVESAQFPEYDDLYCKYCFVYGQDWAPTAGLEEGISQITSKSQDV
RQALVWNFPIDVTFKSTNPYGWPQIVLSVYGPDVFGNDVVRGYGAVHVPFSPGRHKRTIP
MFVPESTSKLQKFTSWFMGRRPEYTDPKVVAQGEGREVTRVRSQGFVTLLFNVVTKDMRK
LGYDTGPSDTQGVLGPSPPQSFPQ
NT seq 615 nt   +upstreamnt  +downstreamnt
atggcgaccgcgagtcctagcgtctttctactcatggtcaacgggcaggtggagagcgcc
cagtttccagagtatgatgacctctactgcaagtactgctttgtgtacggccaggactgg
gcccccacagcgggtctggaggaggggatctcacagatcacatccaagagccaagatgtg
cggcaagcactggtgtggaacttccccattgatgtcacctttaaaagcaccaacccctac
ggctggccacagatcgtgctcagcgtgtatggaccagatgtgttcgggaacgatgtggtt
cgaggctatggggccgtgcacgtgcccttctcacctggccggcacaaaaggaccatcccc
atgtttgtcccagaatctacgtctaaactgcagaagtttacaagctggttcatggggcgg
cggcccgagtacacagaccccaaggtggtggctcagggtgaaggccgggaagtgacccgt
gtccgttctcagggctttgtcaccctcctcttcaacgtggtgaccaaggacatgaggaaa
ctgggctatgacactgggccttctgatacacagggtgtgttggggcccagcccaccccag
agcttcccccagtga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (10)   
   KEGG ORTHOLOGY (1)   
   RefGene (1)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (28)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (25)   
DNA sequence (51)   
   RefSeq(nuc) (27)   
   GenBank (12)   
   EMBL (12)   
Protein domain (1)   
   Pfam (1)   
All databases (98)   

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