KEGG   Homo sapiens (human): 4281
Entry
4281              CDS       T01001                                 
Symbol
MID1, BBBG1, FXY, GBBB, GBBB1, MIDIN, OGS1, OS, OSX, RNF59, TRIM18, XPRF, ZNFXY
Name
(RefSeq) midline 1
  KO
K08285  midline 1 [EC:2.3.2.27]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04120  Ubiquitin mediated proteolysis
Disease
H00583  Opitz-GBBB syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09123 Folding, sorting and degradation
   04120 Ubiquitin mediated proteolysis
    4281 (MID1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04121 Ubiquitin system [BR:hsa04121]
    4281 (MID1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.3  Acyltransferases
   2.3.2  Aminoacyltransferases
    2.3.2.27  RING-type E3 ubiquitin transferase
     4281 (MID1)
Ubiquitin system [BR:hsa04121]
 Ubiquitin ligases (E3)
  Single Ring-finger type E3
   TRIM/RBCC proteins
    4281 (MID1)
SSDB
Motif
Pfam: COS SPRY zf-B_box fn3 zf-RING_UBOX PRY zf-C3HC4_4 zf-C3HC4 zf-C3HC4_3 Pur_ac_phosph_N zf-RING_2 zf-RING_5 zf-C3HC4_2 U-box
Other DBs
NCBI-GeneID: 4281
NCBI-ProteinID: NP_000372
OMIM: 300552
HGNC: 7095
Ensembl: ENSG00000101871
UniProt: O15344
Structure
Position
X:complement(10445310..10833683)
AA seq 667 aa
METLESELTCPICLELFEDPLLLPCAHSLCFNCAHRILVSHCATNESVESITAFQCPTCR
HVITLSQRGLDGLKRNVTLQNIIDRFQKASVSGPNSPSETRRERAFDANTMTSAEKVLCQ
FCDQDPAQDAVKTCVTCEVSYCDECLKATHPNKKPFTGHRLIEPIPDSHIRGLMCLEHED
EKVNMYCVTDDQLICALCKLVGRHRDHQVAALSERYDKLKQNLESNLTNLIKRNTELETL
LAKLIQTCQHVEVNASRQEAKLTEECDLLIEIIQQRRQIIGTKIKEGKVMRLRKLAQQIA
NCKQCIERSASLISQAEHSLKENDHARFLQTAKNITERVSMATASSQVLIPEINLNDTFD
TFALDFSREKKLLECLDYLTAPNPPTIREELCTASYDTITVHWTSDDEFSVVSYELQYTI
FTGQANVVSLCNSADSWMIVPNIKQNHYTVHGLQSGTKYIFMVKAINQAGSRSSEPGKLK
TNSQPFKLDPKSAHRKLKVSHDNLTVERDESSSKKSHTPERFTSQGSYGVAGNVFIDSGR
HYWEVVISGSTWYAIGLAYKSAPKHEWIGKNSASWALCRCNNNWVVRHNSKEIPIEPAPH
LRRVGILLDYDNGSIAFYDALNSIHLYTFDVAFAQPVCPTFTVWNKCLTIITGLPIPDHL
DCTEQLP
NT seq 2004 nt   +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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Ontology (3)   
   KEGG BRITE (3)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (12)   
   KEGG ORTHOLOGY (1)   
   RefGene (2)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (11)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (9)   
DNA sequence (199)   
   RefSeq(nuc) (11)   
   GenBank (94)   
   EMBL (94)   
3D Structure (5)   
   PDB (5)   
Protein domain (14)   
   Pfam (14)   
All databases (250)   

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