KEGG   Homo sapiens (human): 6905
Entry
6905              CDS       T01001                                 
Symbol
TBCE, HRD, KCS, KCS1, PEAMO, pac2
Name
(RefSeq) tubulin folding cofactor E
  KO
K21768  tubulin-specific chaperone E
Organism
hsa  Homo sapiens (human)
Disease
H00619  Kenny-Caffey syndrome
H00622  Hypoparathyroidism-retardation-dysmorphism syndrome
H02820  Progressive encephalopathy with amyotrophy and optic atrophy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    6905 (TBCE)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Microtubules
   Tubulin-binding proteins
    Others
     6905 (TBCE)
SSDB
Motif
Pfam: CAP_GLY LRR_4 LRR_8 LRR_9 Ubiquitin_2 LRR_At5g56370 LRR_NXF1-5
Other DBs
NCBI-GeneID: 6905
NCBI-ProteinID: NP_001072983
OMIM: 604934
HGNC: 11582
Ensembl: ENSG00000284770
UniProt: Q15813
Structure
Position
1:235367427..235452443
AA seq 527 aa
MSDTLTADVIGRRVEVNGEHATVRFAGVVPPVAGPWLGVEWDNPERGKHDGSHEGTVYFK
CRHPTGGSFIRPNKVNFGTDFLTAIKNRYVLEDGPEEDRKEQIVTIGNKPVETIGFDSIM
KQQSQLSKLQEVSLRNCAVSCAGEKGGVAEACPNIRKVDLSKNLLSSWDEVIHIADQLRH
LEVLNVSENKLKFPSGSVLTGTLSVLKVLVLNQTGITWAEVLRCVAGCPGLEELYLESNN
IFISERPTDVLQTVKLLDLSSNQLIDENQLYLIAHLPRLEQLILSDTGISSLHFPDAGIG
CKTSMFPSLKYLVVNDNQISQWSFFNELEKLPSLRALSCLRNPLTKEDKEAETARLLIIA
SIGQLKTLNKCEILPEERRRAELDYRKAFGNEWKQAGGHKDPEKNRLSEEFLTAHPRYQF
LCLKYGAPEDWELKTQQPLMLKNQLLTLKIKYPHQLDQKVLEKQLPGSMTIQKVKGLLSR
LLKVPVSDLLLSYESPKKPGREIELENDLKSLQFYSVENGDCLLVRW
NT seq 1584 nt   +upstreamnt  +downstreamnt
atgagtgacactttgacagcggatgtcattggtcgaagagttgaagttaatggagaacat
gcaacagtacgttttgctggtgttgtccctcccgtggcaggaccctggttaggagtagaa
tgggacaatcccgagagaggaaagcatgatgggagccacgaagggactgtgtattttaaa
tgcaggcacccgacaggaggatcctttattcgtccgaacaaggtaaattttggaacagac
tttcttactgcaattaagaaccgctatgtgttagaagatggaccagaggaagatagaaaa
gagcaaattgttacaattggaaataaacctgtggagactatcggttttgactctattatg
aaacagcaaagtcagctgagcaagttgcaagaagtttctctgaggaactgtgcagtaagt
tgtgctggtgaaaaaggaggagttgctgaagcatgtcctaatatcagaaaggtagatttg
tcaaaaaacctgttgtcatcatgggatgaagtgatacacattgctgatcagctcagacac
ctggaagtccttaatgtcagtgaaaataaactaaaatttccctccggttcagtattaact
ggaacgctttctgtactgaaggttttagtcctcaatcaaacaggaataacgtgggctgag
gtgctgcggtgtgtcgcggggtgcccaggcctggaggaactctaccttgagtctaacaac
attttcatttccgaaaggccaacagatgttctccagacagtcaagttattagatctttcc
tctaatcaattaattgatgaaaatcagctgtatctgatagcccacctgcccaggttagaa
caattaatcctctctgacactggaatttcttctctacattttccggatgctggaattggg
tgcaaaacgtccatgttcccatccttgaagtacctggtagtaaacgacaatcagatatca
caatggtcgtttttcaatgagctagagaagttaccaagtctacgggctttgtcctgccta
agaaaccccctgaccaaagaggacaaagaagcagagacggcgcgactactcattatcgcc
agcattggccagctgaagacgctgaacaaatgtgagattctccccgaggagaggcggaga
gctgagcttgactaccgaaaagcttttggaaatgagtggaaacaggctggtggacataag
gatccggaaaaaaacagactcagcgaagaattcctcacagcccatcccagataccagttc
ctctgcctgaaatatggtgcacctgaagattgggaactcaaaacacagcaaccacttatg
ctgaaaaaccagctactaacactgaagataaaataccctcatcaacttgatcagaaagtc
ctggagaaacaactgccgggctccatgacaattcaaaaggtgaagggattgctgtcacgt
cttctcaaagttcctgtgtcagaccttctgttgtcctatgaaagtcccaaaaagccgggc
agagaaatcgagctggaaaatgacctaaagtcattacagttttattctgtggaaaatgga
gattgtctattagtgcgatggtga

  All links  
Disease (4)   
   OMIM (4)   
Gene (15)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (6)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (26)   
   RefSeq(nuc) (4)   
   GenBank (11)   
   EMBL (11)   
3D Structure (2)   
   PDB (2)   
Protein domain (7)   
   Pfam (7)   
All databases (60)   

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