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

Gene name
MID1, BBBG1, FXY, GBBB1, MIDIN, OGS1, OS, OSX, RNF59, TRIM18, XPRF, ZNFXY
Definition
(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)
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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: COS SPRY PRY zf-B_box fn3 zf-RING_UBOX zf-C3HC4_3 zf-C3HC4 zf-C3HC4_4 zf-RING_2 zf-C3HC4_2 zf-RING_5 Pur_ac_phosph_N fn3_4 U-box Baculo_PEP_C
Motif
Other DBs
NCBI-GeneID: 4281
NCBI-ProteinID: NP_000372
OMIM: 300552
HGNC: 7095
Ensembl: ENSG00000101871
Vega: OTTHUMG00000021127
Pharos: O15344(Tbio)
UniProt: O15344 A0A024RBV4
Structure
PDB: 

Position
Xp22.2
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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