KEGG   Homo sapiens (human): 4281Help
Entry
4281              CDS       T01001                                 

Gene name
MID1, BBBG1, FXY, GBBB1, MIDIN, OGS1, OS, OSX, RNF59, TRIM18, XPRF, ZNFXY
Definition
midline 1 (Opitz/BBB syndrome)
Orthology
K08285  
midline 1 [EC:6.3.2.19]
Organism
hsa  Homo sapiens (human)
Pathway
Ubiquitin mediated proteolysis
Disease
H00583  
Opitz-GBBB syndrome
Class
Genetic Information Processing; Folding, sorting and degradation; Ubiquitin mediated proteolysis [PATH:hsa04120]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
Xp22
AA seq 667 aa AA seqDB search
METLESELTCPICLELFEDPLLLPCAHSLCFNCAHRILVSHCATNESVESITAFQCPTCR
HVITLSQRGLDGLKRNVTLQNIIDRFQKASVSGPNSPSETRRERAFDANTMTSAEKVLCQ
FCDQDPAQDAVKTCVTCEVSYCDECLKATHPNKKPFTGHRLIEPIPDSHIRGLMCLEHED
EKVNMYCVTDDQLICALCKLVGRHRDHQVAALSERYDKLKQNLESNLTNLIKRNTELETL
LAKLIQTCQHVEVNASRQEAKLTEECDLLIEIIQQRRQIIGTKIKEGKVMRLRKLAQQIA
NCKQCIERSASLISQAEHSLKENDHARFLQTAKNITERVSMATASSQVLIPEINLNDTFD
TFALDFSREKKLLECLDYLTAPNPPTIREELCTASYDTITVHWTSDDEFSVVSYELQYTI
FTGQANVVSLCNSADSWMIVPNIKQNHYTVHGLQSGTKYIFMVKAINQAGSRSSEPGKLK
TNSQPFKLDPKSAHRKLKVSHDNLTVERDESSSKKSHTPERFTSQGSYGVAGNVFIDSGR
HYWEVVISGSTWYAIGLAYKSAPKHEWIGKNSASWALCRCNNNWVVRHNSKEIPIEPAPH
LRRVGILLDYDNGSIAFYDALNSIHLYTFDVAFAQPVCPTFTVWNKCLTIITGLPIPDHL
DCTEQLP
NT seq 2004 nt NT seq  +upstreamnt  +downstreamnt
atggaaacactggagtcagaactgacctgccctatttgtctggagctctttgaggaccct
cttctactgccctgcgcacacagcctctgcttcaactgcgcccaccgcatcctagtatca
cactgtgccaccaacgagtctgtggagtccatcaccgccttccagtgccccacctgccgg
catgtcatcaccctcagccagcgaggtctagacgggctcaagcgcaacgtcaccctacag
aacatcatcgacaggttccagaaagcatcagtgagcgggcccaactctcccagcgagacc
cgtcgggagcgggcctttgacgccaacaccatgacctccgccgagaaggtcctctgccag
ttttgtgaccaggatcctgcccaggacgctgtgaagacctgtgtcacttgtgaagtatcc
tactgtgacgagtgcctgaaagccactcacccgaataagaagccctttacaggccatcgt
ctgattgagccaattccggactctcacatccgggggctgatgtgcttggagcatgaggat
gagaaggtgaatatgtactgtgtgaccgatgaccagttaatctgtgccttgtgtaaactg
gttgggcggcaccgcgatcatcaggtggcagctttgagtgagcgctatgacaaattgaag
caaaacttagagagtaacctcaccaaccttattaagaggaacacagaactggagaccctt
ttggctaaactcatccaaacctgtcaacatgttgaagtcaatgcatcacgtcaagaagcc
aaattgacagaggagtgtgatcttctcattgagatcattcagcaaagacgacagattatt
ggaaccaagatcaaagaagggaaggtgatgaggcttcgcaaactggctcagcagattgca
aactgcaaacagtgcattgagcggtcagcatcactcatctcccaagcggaacactctctg
aaggagaatgatcatgcgcgtttcctacagactgctaagaatatcaccgagagagtctcc
atggcaactgcatcctcccaggttctaattcctgaaatcaacctcaatgacacatttgac
acctttgccttagatttttcccgagagaagaaactgctagaatgtctggattaccttaca
gctcccaaccctcccacaattagagaagagctctgcacagcttcatatgacaccatcact
gtgcattggacctccgatgatgagttcagcgtggtctcctacgagctccagtacaccata
ttcaccggacaagccaacgtcgttagtctgtgtaattcggctgatagctggatgatagta
cccaacatcaagcagaaccactacacggtgcacggtctgcagagcggcaccaagtacatc
ttcatggtcaaggccatcaaccaggcgggcagccgcagcagtgagcctgggaagttgaag
acaaacagccaaccatttaaactggatcccaaatctgctcatcgaaaactgaaggtgtcc
catgataacttgacagtagaacgtgatgagtcatcatccaagaagagtcacacacctgaa
cgcttcaccagccaggggagctatggagtagctggaaatgtgtttattgatagtggccgg
cattattgggaagtggtcataagtggaagcacatggtatgccattggtcttgcttacaaa
tcagccccgaagcatgaatggattgggaagaactctgcttcctgggcgctctgccgctgc
aacaataactgggtggtgagacacaatagcaaggaaatccccattgagcctgccccccac
ctccggcgcgtgggcatcctgctggactatgataacggctctatcgccttttatgatgct
ttgaactccatccacctctacaccttcgacgtcgcatttgcgcagcctgtttgccccacc
ttcaccgtgtggaacaagtgtctgacgattatcactgggctccctatcccagaccatttg
gactgcacagagcagctgccgtga

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