Homo sapiens (human): 79583
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Entry
79583 CDS
T01001
Symbol
TMEM231, ALYE870, JBTS20, MKS11, PRO1886
Name
(RefSeq) transmembrane protein 231
KO
K19362
transmembrane protein 231
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
]
79583 (TMEM231)
Cilium and associated proteins [BR:
hsa03037
]
Primary cilia and associated proteins
MKS complex
79583 (TMEM231)
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Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
TM231
Motif
Other DBs
NCBI-GeneID:
79583
NCBI-ProteinID:
NP_001070886
OMIM:
614949
HGNC:
37234
Ensembl:
ENSG00000205084
UniProt:
Q9H6L2
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All DBs
Position
16:complement(75536741..75556286)
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AA seq
316 aa
AA seq
DB search
MALYELFSHPVERSYRAGLCSKAALFLLLAAALTYIPPLLVAFRSHGFWLKRSSYEEQPT
VRFQHQVLLVALLGPESDGFLAWSTFPAFNRLQGDRLRVPLVSTREEDRNQDGKTDMLHF
KLELPLQSTEHVLGVQLILTFSYRLHRMATLVMQSMAFLQSSFPVPGSQLYVNGDLRLQQ
KQPLSCGGLDARYNISVINGTSPFAYDYDLTHIVAAYQERNVTTVLNDPNPIWLVGRAAD
APFVINAIIRYPVEVISYQPGFWEMVKFAWVQYVSILLIFLWVFERIKIFVFQNQVVTTI
PVTVTPRGDLCKEHLS
NT seq
951 nt
NT seq
+upstream
nt +downstream
nt
atggcgctctatgagctcttctctcacccggtcgagcgcagttaccgcgcggggctctgc
tccaaagccgcgctgttcctgctgctggccgctgcgctcacgtacatcccgccgctgctg
gtggccttccggagccacgggttttggctgaagcggagcagctacgaggagcagccgacc
gtgcgcttccaacaccaggtgctgctcgtggccctgctcggacccgaaagcgacgggttc
ctcgcctggagcacgttccccgccttcaaccggctgcaaggggatcgcctgcgcgtcccg
ctcgtttcgactagagaagaagacaggaaccaggatgggaagacggacatgttacatttt
aagctggagcttcccctgcagtccacggagcacgttctcggtgtgcagctcatcctgact
ttctcctatcgattacacaggatggcgaccctcgtgatgcagagcatggcgtttctccag
tcctcctttcctgtcccgggatcccagttatacgtgaacggagacctgaggctgcagcag
aagcagccgctgagctgtggtggcctagatgcccgatacaacatatccgtgatcaacggg
accagcccctttgcctatgactacgacctcacccatattgttgctgcctaccaggagagg
aacgttaccaccgtcctgaatgatcccaaccccatctggctggtgggcagggccgcagat
gctccatttgtgattaatgctatcatccgataccctgtggaagtcatttcttatcagcca
ggattctgggagatggtaaagttcgcctgggtgcagtatgtcagcatcctgcttatcttc
ctctgggtgtttgaaagaatcaagatcttcgtgtttcagaatcaggtggtgaccaccatt
cctgtgacagtgacgccccggggagacttgtgtaaggagcacttatcctag
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