KEGG   Homo sapiens (human): 57215
Entry
57215             CDS       T01001                                 
Symbol
THAP11, CTG-B43a, CTG-B45d, HRIHFB2206, MAHCL, RONIN, SCA51
Name
(RefSeq) THAP domain containing 11
  KO
K23211  THAP domain-containing protein 11
Organism
hsa  Homo sapiens (human)
Pathway
hsa04980  Cobalamin transport and metabolism
Network
nt06538  Cobalamin transport and metabolism
  Element
N01810  Regulation of MMACHC expression
Disease
H00063  Spinocerebellar ataxia (SCA)
H02221  Methylmalonic aciduria and homocystinuria
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04980 Cobalamin transport and metabolism
    57215 (THAP11)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    57215 (THAP11)
   03036 Chromosome and associated proteins [BR:hsa03036]
    57215 (THAP11)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Zinc finger
   Cys2CysHis zinc factors
    57215 (THAP11)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Gene silencing
   Transposable elements
    57215 (THAP11)
SSDB
Motif
Pfam: THAP DDHD VPS13_N CPSF100_C Spt20_SEP SLC52_ribofla_tr TMEM51 PAT1 DUF5349 eIF-3_zeta DUF702 EOS1 WD40_2 Presenilin SpoIIP
Other DBs
NCBI-GeneID: 57215
NCBI-ProteinID: NP_065190
OMIM: 609119
HGNC: 23194
Ensembl: ENSG00000168286
UniProt: Q96EK4
Structure
LinkDB
Position
16:67842320..67844195
AA seq 314 aa
MPGFTCCVPGCYNNSHRDKALHFYTFPKDAELRRLWLKNVSRAGVSGCFSTFQPTTGHRL
CSVHFQGGRKTYTVRVPTIFPLRGVNERKVARRPAGAAAARRRQQQQQQQQQQQQQQQQQ
QQQQQQQQQQQQSSPSASTAQTAQLQPNLVSASAAVLLTLQATVDSSQAPGSVQPAPITP
TGEDVKPIDLTVQVEFAAAEGAAAAAAASELQAATAGLEAAECPMGPQLVVVGEEGFPDT
GSDHSYSLSSGTTEEELLRKLNEQRDILALMEVKMKEMKGSIRHLRLTEAKLREELREKD
RLLAMAVIRKKHGM
NT seq 945 nt   +upstreamnt  +downstreamnt
atgcctggctttacgtgctgcgtgccaggctgctacaacaactcgcaccgggacaaggcg
ctgcacttctacacgtttccaaaggacgctgagttgcggcgcctctggctcaagaacgtg
tcgcgtgccggcgtcagtgggtgcttctccaccttccagcccaccacaggccaccgtctc
tgcagcgttcacttccagggcggccgcaagacctacacggtacgcgtccccaccatcttc
ccgctgcgcggcgtcaatgagcgcaaagtagcgcgcagacccgctggggccgcggccgcc
cgccgcaggcagcagcagcaacagcagcagcagcagcaacagcagcaacagcagcagcag
cagcaacagcagcagcagcagcagcagcagcagcagtcctcaccctctgcctccactgcc
cagactgcccagctgcagccgaacctggtatctgcttccgcggccgtgcttctcaccctt
caggccactgtagacagcagtcaggctccgggatccgtacagccggcgcccatcactccc
actggagaagacgtgaagcccatcgatctcacagtgcaagtggagtttgcagccgcagag
ggcgcagccgctgcggccgccgcgtcggagttacaggctgctaccgcagggctggaggct
gccgagtgccctatgggcccccagttggtggtggtaggggaagagggcttccctgatact
ggctccgaccattcgtactccttgtcgtcaggcaccacggaggaggagctcctgcgcaag
ctgaatgagcagcgggacatcctggctctgatggaagtgaagatgaaagagatgaaaggc
agcattcgccacctgcgtctcactgaggccaagctgcgcgaagaactgcgtgagaaggat
cggctgcttgccatggctgtcatccgcaagaagcacggaatgtga

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