KEGG   Homo sapiens (human): 22954
Entry
22954             CDS       T01001                                 
Symbol
TRIM32, BBS11, HT2A, LGMD2H, LGMDR8, TATIP
Name
(RefSeq) tripartite motif containing 32
  KO
K10607  tripartite motif-containing protein 32 [EC:2.3.2.27]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04120  Ubiquitin mediated proteolysis
Disease
H00418  Bardet-Biedl syndrome
H00593  Limb-girdle muscular dystrophy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09123 Folding, sorting and degradation
   04120 Ubiquitin mediated proteolysis
    22954 (TRIM32)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04121 Ubiquitin system [BR:hsa04121]
    22954 (TRIM32)
Enzymes [BR:hsa01000]
 2. Transferases
  2.3  Acyltransferases
   2.3.2  Aminoacyltransferases
    2.3.2.27  RING-type E3 ubiquitin transferase
     22954 (TRIM32)
Ubiquitin system [BR:hsa04121]
 Ubiquitin ligases (E3)
  Single Ring-finger type E3
   TRIM/RBCC proteins
    22954 (TRIM32)
SSDB
Motif
Pfam: NHL zf-RING_UBOX zf-RING_2 zf-RING_5 zf-C3HC4 zf-C3HC4_2 Baculo_IE-1 zf-B_box zf-C3HC4_4 zf-RING_4 zf-RING_11 FAM184 Zn_Tnp_IS1595 TRAF3_RING CDK5RAP3
Other DBs
NCBI-GeneID: 22954
NCBI-ProteinID: NP_001093149
OMIM: 602290
HGNC: 16380
Ensembl: ENSG00000119401
UniProt: Q13049
Structure
Position
9:116687305..116701299
AA seq 653 aa
MAAAAASHLNLDALREVLECPICMESFTEEQLRPKLLHCGHTICRQCLEKLLASSINGVR
CPFCSKITRITSLTQLTDNLTVLKIIDTAGLSEAVGLLMCRSCGRRLPRQFCRSCGLVLC
EPCREADHQPPGHCTLPVKEAAEERRRDFGEKLTRLRELMGELQRRKAALEGVSKDLQAR
YKAVLQEYGHEERRVQDELARSRKFFTGSLAEVEKSNSQVVEEQSYLLNIAEVQAVSRCD
YFLAKIKQADVALLEETADEEEPELTASLPRELTLQDVELLKVGHVGPLQIGQAVKKPRT
VNVEDSWAMEATASAASTSVTFREMDMSPEEVVASPRASPAKQRGPEAASNIQQCLFLKK
MGAKGSTPGMFNLPVSLYVTSQGEVLVADRGNYRIQVFTRKGFLKEIRRSPSGIDSFVLS
FLGADLPNLTPLSVAMNCQGLIGVTDSYDNSLKVYTLDGHCVACHRSQLSKPWGITALPS
GQFVVTDVEGGKLWCFTVDRGSGVVKYSCLCSAVRPKFVTCDAEGTVYFTQGLGLNLENR
QNEHHLEGGFSIGSVGPDGQLGRQISHFFSENEDFRCIAGMCVDARGDLIVADSSRKEIL
HFPKGGGYSVLIREGLTCPVGIALTPKGQLLVLDCWDHCIKIYSYHLRRYSTP
NT seq 1962 nt   +upstreamnt  +downstreamnt
atggctgcagcagcagcttctcacctgaacctggatgccctccgggaagtgctagaatgc
cccatctgcatggagtccttcacagaagagcagctgcgtcccaagcttctgcactgtggc
cataccatctgccgccagtgcctggagaagctattggccagtagcatcaatggtgtccgc
tgtcccttttgcagcaagattacccgcataaccagcttgacccagctgacagacaatctg
acagtgctaaagatcattgatacagctgggctcagcgaggctgtggggctgctcatgtgt
cggtcctgtgggcggcgtctgccccggcaattctgccggagctgtggtttggtgttatgt
gagccctgccgggaggcagaccatcagcctcctggccactgtacactccctgtcaaagaa
gcagctgaggagcggcgtcgggactttggagagaagttaactcgtctgcgggaacttatg
ggggagctgcagcggcggaaggcagccttggaaggtgtctccaaggaccttcaggcaagg
tataaagcagttctccaggagtatgggcatgaggagcgcagggtccaggatgagctggct
cgctctcggaagttcttcacaggctctttggctgaagttgagaagtccaatagtcaagtg
gtagaggagcagagttacctgcttaacattgcagaggtgcaggctgtgtctcgctgtgac
tacttcctggccaagatcaagcaggcagatgtagcactactggaggagacagctgatgag
gaggagccagagctcactgccagcttgcctcgggagctcaccctgcaagatgtggagctc
cttaaggtaggtcatgttggccccctccaaattggacaagctgttaagaagccccggaca
gttaacgtggaagattcctgggccatggaggccacagcgtctgctgcctctacctctgtt
acttttagagagatggacatgagcccggaggaagtggttgccagccctagggcctcacct
gctaaacagcggggtcctgaggcagcctccaatatccagcagtgcctctttctcaagaag
atgggggccaaaggcagcactccaggaatgttcaatcttccagtcagtctctacgtgacc
agtcaaggtgaagtactagtcgctgaccgtggtaactatcgtatacaagtctttacccgc
aaaggctttttgaaggaaatccgccgcagccccagtggcattgatagctttgtgctaagc
ttccttggggcagatctacccaacctcactcctctctcagtggcaatgaactgccagggg
ctgattggtgtgactgacagctatgataactccctcaaggtatataccttggatggccac
tgcgtggcctgtcacaggagccagctgagcaaaccatggggtatcacagccttgccatct
ggccagtttgtagtaaccgatgtggaaggtggaaagctttggtgtttcacagttgatcga
ggatcaggggtggtcaaatacagctgcctatgtagtgctgtgcggcccaaatttgtcacc
tgtgatgctgagggcaccgtctacttcacccagggcttaggcctcaatctggagaatcgg
cagaatgagcaccacctggagggtggcttttccattggctctgtaggccctgatgggcag
ctgggtcgccagattagccacttcttctcggagaatgaggatttccgctgcattgctggc
atgtgtgtggatgctcgtggtgatctcatcgtggctgacagtagtcgcaaggaaattctc
cattttcctaagggtgggggctatagtgtccttattcgagagggacttacctgtccggtg
ggcatagccctaactcctaaggggcagctgctggtcttggactgttgggatcattgcatc
aagatctacagctaccatctgagaagatattccaccccatag

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