Homo sapiens (human): 27077
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
B9-C2
Motif
Other DBs
NCBI-GeneID:
27077
NCBI-ProteinID:
NP_056496
OMIM:
614144
HGNC:
24123
Ensembl:
ENSG00000108641
UniProt:
Q9UPM9
B4DEW0
LinkDB
All DBs
Position
17:complement(19334695..19377913)
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AA seq
204 aa
AA seq
DB search
MATASPSVFLLMVNGQVESAQFPEYDDLYCKYCFVYGQDWAPTAGLEEGISQITSKSQDV
RQALVWNFPIDVTFKSTNPYGWPQIVLSVYGPDVFGNDVVRGYGAVHVPFSPGRHKRTIP
MFVPESTSKLQKFTSWFMGRRPEYTDPKVVAQGEGREVTRVRSQGFVTLLFNVVTKDMRK
LGYDTGPSDTQGVLGPSPPQSFPQ
NT seq
615 nt
NT seq
+upstream
nt +downstream
nt
atggcgaccgcgagtcctagcgtctttctactcatggtcaacgggcaggtggagagcgcc
cagtttccagagtatgatgacctctactgcaagtactgctttgtgtacggccaggactgg
gcccccacagcgggtctggaggaggggatctcacagatcacatccaagagccaagatgtg
cggcaagcactggtgtggaacttccccattgatgtcacctttaaaagcaccaacccctac
ggctggccacagatcgtgctcagcgtgtatggaccagatgtgttcgggaacgatgtggtt
cgaggctatggggccgtgcacgtgcccttctcacctggccggcacaaaaggaccatcccc
atgtttgtcccagaatctacgtctaaactgcagaagtttacaagctggttcatggggcgg
cggcccgagtacacagaccccaaggtggtggctcagggtgaaggccgggaagtgacccgt
gtccgttctcagggctttgtcaccctcctcttcaacgtggtgaccaaggacatgaggaaa
ctgggctatgacactgggccttctgatacacagggtgtgttggggcccagcccaccccag
agcttcccccagtga
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integrated database retrieval system
