Homo sapiens (human): 91147
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Entry
91147 CDS
T01001
Symbol
TMEM67, JBTS6, MECKELIN, MKS3, NPHP11, TNEM67
Name
(RefSeq) meckelin isoform 1 precursor
KO
K19348
meckelin
Organism
hsa
Homo sapiens (human)
Disease
H00261
Meckel syndrome
H00530
Joubert syndrome and related disorders
H00537
Nephronophthisis
H01001
COACH syndrome
H02884
RHYNS syndrome
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
03037 Cilium and associated proteins [BR:
hsa03037
]
91147 (TMEM67)
Cilium and associated proteins [BR:
hsa03037
]
Primary cilia and associated proteins
MKS complex
91147 (TMEM67)
SSDB
Ortholog
Paralog
GFIT
Motif
Pfam:
Meckelin
Motif
Other DBs
NCBI-GeneID:
91147
NCBI-ProteinID:
NP_714915
OMIM:
609884
HGNC:
28396
Ensembl:
ENSP00000389998.3
UniProt:
Q5HYA8
Structure
PDB
PDBj
LinkDB
All DBs
Position
8:93754844..93832653
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AA seq
995 aa
AA seq
DB search
MATRGGAGVAMAVWSLLSARAVTAFLLLFLPRFLQAQTFSFPFQQPEKCDNNQYFDISAL
SCVPCGANQRQDARGTSCVCLPGFQMISNNGGPAIICKKCPENMKGVTEDGWNCISCPSD
LTAEGKCHCPIGHILVERDINGTLLSQATCELCDGNENSFMVVNALGDRCVRCEPTFVNT
SRSCACSEPNILTGGLCFSSTGNFPLRRISAARYGEVGMSLTSEWFAKYLQSSAAACWVY
ANLTSCQALGNMCVMNMNSYDFATFDACGLFQFIFENTAGLSTVHSISFWRQNLPWLFYG
DQLGLAPQVLSSTSLPTNFSFKGENQNTKLKFVAASYDIRGNFLKWQTLEGGVLQLCPDT
ETRLNAAYSFGTTYQQNCEIPISKILIDFPTPIFYDVYLEYTDENQHQYILAVPVLNLNL
QHNKIFVNQDSNSGKWLLTRRIFLVDAVSGRENDLGTQPRVIRVATQISLSVHLVPNTIN
GNIYPPLITIAYSDIDIKDANSQSVKVSFSVTYEMDHGEAHVQTDIALGVLGGLAVLASL
LKTAGWKRRIGSPMIDLQTVVKFLVYYAGDLANVFFIITVGTGLYWLIFFKAQKSVSVLL
PMPIQEERFVTYVGCAFALKALQFLHKLISQITIDVFFIDWERPKGKVLKAVEGEGGVRS
ATVPVSIWRTYFVANEWNEIQTVRKINSLFQVLTVLFFLEVVGFKNLALMDSSSSLSRNP
PSYIAPYSCILRYAVSAALWLAIGIIQVVFFAVFYERFIEDKIRQFVDLCSMSNISVFLL
SHKCFGYYIHGRSVHGHADTNMEEMNMNLKREAENLCSQRGLVPNTDGQTFEIAISNQMR
QHYDRIHETLIRKNGPARLLSSSASTFEQSIKAYHMMNKFLGSFIDHVHKEMDYFIKDKL
LLERILGMEFMEPMEKSIFYNDEGYSFSSVLYYGNEATLLIFDLLFFCVVDLACQNFILA
SFLTYLQQEIFRYIRNTVGQKNLASKTLVDQRFLI
NT seq
2988 nt
NT seq
+upstream
nt +downstream
nt
atggcgacgcgcggtggggctggggtggcaatggcggtttggtccctcttatccgcccgg
gccgtgaccgcgttccttctgttgttcctccctcgcttcttacaggcccagaccttctct
ttccctttccagcagccggagaagtgcgacaacaaccagtactttgatatctccgccctc
tcgtgtgttccttgtggagctaaccagaggcaagatgcccgaggaacttcatgtgtatgt
ctaccaggatttcagatgatctctaataatggaggacctgctattatttgtaaaaagtgc
ccagaaaacatgaaaggtgttacagaagatggctggaactgcatttcttgccctagtgac
ttaactgccgaaggaaaatgtcactgtcccattggccatattttagtggaaagagacatt
aatggaacattgttgtctcaagcaacttgtgagctctgtgatggaaatgaaaactctttt
atggtagtaaatgctttaggagacaggtgcgtccgatgtgagccaacatttgttaatacc
agcaggtcctgtgcatgttcagaacctaacattttaacagggggattatgtttcagcagc
acagggaattttcctctacgtagaatttcagctgcacgttatggagaagttggcatgtct
ttaacttcagaatggtttgcaaagtatttgcaatcatcagcagctgcatgttgggtatat
gccaatctaacatcttgtcaagctcttggaaatatgtgtgtgatgaacatgaattcttac
gactttgccacatttgatgcatgtggactatttcagtttatctttgaaaatactgctgga
ctgagcactgttcattctatttcattttggagacagaatcttccttggctgttttatgga
gaccagttaggattagcacctcaagtgctcagttctacctctcttcctacaaatttcagt
tttaaaggagaaaaccagaatacaaaactgaagtttgttgctgcttcctatgatataaga
ggaaattttctcaagtggcaaactttagaaggaggtgttttacagctttgtccagacaca
gagacaaggctaaatgctgcttattcatttggaacaacctaccaacaaaattgtgagatt
cctatctctaagatcttaattgactttcccactcctatattttatgatgtgtaccttgaa
tatactgatgaaaatcaacatcaatatattttggctgtgcctgtgttaaacctaaatctt
caacataataagatatttgtgaaccaagacagcaactctggaaagtggcttctaactcgg
cgcattttcttagtggatgcagtaagtggacgagaaaatgacttaggaactcagccaaga
gtaattcgagttgctactcaaatatcactgagtgtccaccttgtacccaacacaataaat
ggaaacatctaccctcccttaatcaccattgcctacagtgacattgatatcaaagatgcc
aacagccagtctgtgaaggtttctttctcagtcacatatgaaatggatcatggagaagca
catgtccagacagatattgctttgggtgtattgggtgggctagctgttttagcatctctt
ttgaagacagcaggatggaagaggcgcattgggagtcccatgattgatttacagacagtt
gtgaaattcttggtgtactatgctggtgatctggccaatgttttctttatcatcacagtg
ggaacaggtctttactggcttattttcttcaaagcacagaagtctgtgtctgttttgctg
ccaatgccaattcaggaagaacgttttgtcacttatgttggatgtgcctttgctctgaag
gcactacaatttttgcataagctcatatcccagattacaatagatgtattctttattgat
tgggagcgacctaaaggaaaggttcttaaagctgttgaaggtgagggtggtgtacgaagt
gccactgttcctgtaagcatatggagaacatattttgtagcaaatgaatggaatgaaatt
cagactgtgagaaaaattaattcactctttcaagtacttactgtcctcttctttttggag
gttgtgggattcaagaacttagcattaatggactcatcttctagtctttctagaaaccca
cctagctacatagctccttatagctgcattttgagatatgcagtgtctgctgctctttgg
ctagccattggaattatacaggtcgtgttctttgctgtcttttatgagagatttatagaa
gataaaattcgacagttcgttgatttatgctctatgagtaatatatcagtgtttctgtta
tcccacaaatgttttggatattacattcatggtagatcagtacatgggcatgcagatact
aatatggaagaaatgaatatgaaccttaaaagagaagcggaaaatttgtgtagccagaga
ggtttggtacccaacacagatggtcagacttttgagattgcaatttctaaccagatgaga
caacattatgacagaattcatgagacactaataaggaaaaatggtcctgctagactactg
agttcatcagcaagtacttttgagcagagtataaaagcatatcatatgatgaataaattt
cttggctccttcattgaccatgttcataaggaaatggattactttataaaagataagttg
cttcttgaaagaattcttggaatggaattcatggaaccaatggaaaaaagcatcttttac
aatgatgaaggttattctttcagcagtgtcctgtattatggaaatgaagctactcttctt
atttttgatctgctgttcttctgtgttgtggatttggcttgccaaaattttattttagca
tccttccttacatatctacaacaagagatttttagatatatccgtaatacagtaggacaa
aagaatttggcatccaaaacattggtggatcaaagatttttgatttaa
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integrated database retrieval system
