KEGG   Homo sapiens (human): 79583
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)
SSDB
Motif
Pfam: TM231
Other DBs
NCBI-GeneID: 79583
NCBI-ProteinID: NP_001070886
OMIM: 614949
HGNC: 37234
Ensembl: ENSG00000205084
UniProt: Q9H6L2
LinkDB
Position
16:complement(75536741..75556286)
AA seq 316 aa
MALYELFSHPVERSYRAGLCSKAALFLLLAAALTYIPPLLVAFRSHGFWLKRSSYEEQPT
VRFQHQVLLVALLGPESDGFLAWSTFPAFNRLQGDRLRVPLVSTREEDRNQDGKTDMLHF
KLELPLQSTEHVLGVQLILTFSYRLHRMATLVMQSMAFLQSSFPVPGSQLYVNGDLRLQQ
KQPLSCGGLDARYNISVINGTSPFAYDYDLTHIVAAYQERNVTTVLNDPNPIWLVGRAAD
APFVINAIIRYPVEVISYQPGFWEMVKFAWVQYVSILLIFLWVFERIKIFVFQNQVVTTI
PVTVTPRGDLCKEHLS
NT seq 951 nt   +upstreamnt  +downstreamnt
atggcgctctatgagctcttctctcacccggtcgagcgcagttaccgcgcggggctctgc
tccaaagccgcgctgttcctgctgctggccgctgcgctcacgtacatcccgccgctgctg
gtggccttccggagccacgggttttggctgaagcggagcagctacgaggagcagccgacc
gtgcgcttccaacaccaggtgctgctcgtggccctgctcggacccgaaagcgacgggttc
ctcgcctggagcacgttccccgccttcaaccggctgcaaggggatcgcctgcgcgtcccg
ctcgtttcgactagagaagaagacaggaaccaggatgggaagacggacatgttacatttt
aagctggagcttcccctgcagtccacggagcacgttctcggtgtgcagctcatcctgact
ttctcctatcgattacacaggatggcgaccctcgtgatgcagagcatggcgtttctccag
tcctcctttcctgtcccgggatcccagttatacgtgaacggagacctgaggctgcagcag
aagcagccgctgagctgtggtggcctagatgcccgatacaacatatccgtgatcaacggg
accagcccctttgcctatgactacgacctcacccatattgttgctgcctaccaggagagg
aacgttaccaccgtcctgaatgatcccaaccccatctggctggtgggcagggccgcagat
gctccatttgtgattaatgctatcatccgataccctgtggaagtcatttcttatcagcca
ggattctgggagatggtaaagttcgcctgggtgcagtatgtcagcatcctgcttatcttc
ctctgggtgtttgaaagaatcaagatcttcgtgtttcagaatcaggtggtgaccaccatt
cctgtgacagtgacgccccggggagacttgtgtaaggagcacttatcctag

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