KEGG   Homo sapiens (human): 23152
Entry
23152             CDS       T01001                                 

Gene name
CIC, MRD45
Definition
(RefSeq) capicua transcriptional repressor
  KO
K20225  capicua transcriptional repressor
Organism
hsa  Homo sapiens (human)
Pathway
hsa05017  Spinocerebellar ataxia
Disease
H00773  Autosomal dominant mental retardation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative disease
   05017 Spinocerebellar ataxia
    23152 (CIC)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    23152 (CIC)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  beta-Scaffold factors with minor groove contacts
   HMG SOX
    23152 (CIC)
SSDB
Motif
Pfam: HMG_box HMG_box_2
Other DBs
NCBI-GeneID: 23152
NCBI-ProteinID: NP_055940
OMIM: 612082
HGNC: 14214
Ensembl: ENSG00000079432
Vega: OTTHUMG00000182794
Pharos: Q96RK0(Tbio)
UniProt: Q96RK0
LinkDB
Structure
PDB: 
4J2J 6JRP 4J2L

Position
19q13.2
AA seq 1608 aa
MYSAHRPLMPASSAASRGLGMFVWTNVEPRSVAVFPWHSLVPFLAPSQPDPSVQPSEAQQ
PASHPVASNQSKEPAESAAVAHERPPGGTGSADPERPPGATCPESPGPGPPHPLGVVESG
KGPPPTTEEEASGPPGEPRLDSETESDHDDAFLSIMSPEIQLPLPPGKRRTQSLSALPKE
RDSSSEKDGRSPNKREKDHIRRPMNAFMIFSKRHRALVHQRHPNQDNRTVSKILGEWWYA
LGPKEKQKYHDLAFQVKEAHFKAHPDWKWCNKDRKKSSSEAKPTSLGLAGGHKETRERSM
SETGTAAAPGVSSELLSVAAQTLLSSDTKAPGSSSCGAERLHTVGGPGSARPRAFSHSGV
HSLDGGEVDSQALQELTQMVSGPASYSGPKPSTQYGAPGPFAAPGEGGALAATGRPPLLP
TRASRSQRAASEDMTSDEERMVICEEEGDDDVIADDGFGTTDIDLKCKERVTDSESGDSS
GEDPEGNKGFGRKVFSPVIRSSFTHCRPPLDPEPPGPPDPPVAFGKGYGSAPSSSASSPA
SSSASAATSFSLGSGTFKAQESGQGSTAGPLRPPPPGAGGPATPSKATRFLPMDPATFRR
KRPESVGGLEPPGPSVIAAPPSGGGNILQTLVLPPNKEEQEGGGARVPSAPAPSLAYGAP
AAPLSRPAATMVTNVVRPVSSTPVPIASKPFPTSGRAEASPNDTAGARTEMGTGSRVPGG
SPLGVSLVYSDKKSAAATSPAPHLVAGPLLGTVGKAPATVTNLLVGTPGYGAPAPPAVQF
IAQGAPGGGTTAGSGAGAGSGPNGPVPLGILQPGALGKAGGITQVQYILPTLPQQLQVAP
APAPAPGTKAAAPSGPAPTTSIRFTLPPGTSTNGKVLAATAPTPGIPILQSVPSAPPPKA
QSVSPVQAPPPGGSAQLLPGKVLVPLAAPSMSVRGGGAGQPLPLVSPPFSVPVQNGAQPP
SKIIQLTPVPVSTPSGLVPPLSPATLPGPTSQPQKVLLPSSTRITYVQSAGGHALPLGTS
PASSQAGTVTSYGPTSSVALGFTSLGPSGPAFVQPLLSAGQAPLLAPGQVGVSPVPSPQL
PPACAAPGGPVITAFYSGSPAPTSSAPLAQPSQAPPSLVYTVATSTTPPAATILPKGPPA
PATATPAPTSPFPSATAGSMTYSLVAPKAQRPSPKAPQKVKAAIASIPVGSFEAGASGRP
GPAPRQPLEPGPVREPTAPESELEGQPTPPAPPPLPETWTPTARSSPPLPPPAEERTSAK
GPETMASKFPSSSSDWRVPGQGLENRGEPPTPPSPAPAPAVAPGGSSESSSGRAAGDTPE
RKEAAGTGKKVKVRPPPLKKTFDSVDNRVLSEVDFEERFAELPEFRPEEVLPSPTLQSLA
TSPRAILGSYRKKRKNSTDLDSAPEDPTSPKRKMRRRSSCSSEPNTPKSAKCEGDIFTFD
RTGTEAEDVLGELEYDKVPYSSLRRTLDQRRALVMQLFQDHGFFPSAQATAAFQARYADI
FPSKVCLQLKIREVRQKIMQAATPTEQPPGAEAPLPVPPPTGTAAAPAPTPSPAGGPDPT
SPSSDSGTAQAAPPLPPPPESGPGQPGWEGAPQPSPPPPGPSTAATGR
NT seq 4827 nt   +upstreamnt  +downstreamnt
atgtattcggcccacaggcccctgatgcccgcgtccagcgcggcctcccgtggcctcggc
atgttcgtgtggacgaatgtggaacctcgctctgtggctgtgttcccttggcactcctta
gtccccttcctggcacccagccagcctgacccctccgtgcagccgagcgaggcccagcaa
cctgccagccacccagtggcctccaaccagagcaaagaacctgctgagtcggcagctgtt
gctcatgaacggccaccaggtgggacagggagtgctgaccctgagcggccccctggagcc
acatgccctgagagcccaggacccggacccccacaccctttgggggtggtggaatctggt
aagggtccgcctcccaccacggaggaggaggcctccggccccccaggagagccccggctg
gacagtgagacagagagtgaccatgatgatgccttcctctccatcatgtctcctgagatc
cagttgcctctaccgcccggaaaacgtcggacccagtccctcagtgccctacccaaggaa
cgggactcatcttctgagaaggatggacgcagccccaacaagcgggagaaggaccacatc
cggcggcccatgaatgccttcatgatcttcagcaagcggcaccgggccctggtccaccag
cgtcatcccaaccaggacaaccggaccgtcagcaagatcctgggcgagtggtggtatgcc
ctggggcccaaggagaagcagaagtaccacgacctggccttccaggtgaaggaggcccac
ttcaaggcccacccagattggaagtggtgcaacaaggaccgaaagaagtccagctcagag
gccaagcccacgagcctggggctggcaggagggcacaaggagacgcgggagcggagcatg
tcggagacgggcactgctgctgcccctggggtgtcctctgagctcctgtccgttgcagcc
cagacactcctgagctcagacaccaaggctccggggagcagctcctgtggggcagaacgg
ctacacacagttgggggacctggctcagcccggccccgagctttctcccacagcggggta
cacagcctggacggcggagaagtagacagtcaggcgctacaggaactgacgcagatggtg
tctggccctgcatcgtactctggcccaaagccttctacccagtatggagctccaggaccc
tttgcagcccctggtgagggaggtgccttggcggccactgggcggcccccgctgctgccc
acccgagcttctcgttctcagcgtgcggccagtgaggacatgacgagtgatgaggagcgc
atggtcatctgtgaggaggaaggggatgatgatgtcattgctgacgatggcttcggcacc
actgacattgatctcaagtgcaaggagcgggtgaccgacagcgagagtggggacagctct
ggggaggacccagagggcaacaagggctttggtcggaaggtgttttcacctgtgatccgt
tcctcctttacccactgccgccccccactggaccctgagcccccagggcccccggatcct
cctgtagcctttggcaaaggctatggttccgccccatcctcctctgcgtcctcgcctgct
tcctcctcagcctcggcagccacctccttctcactgggctcaggaaccttcaaggcccag
gagtctggtcagggcagcacagcgggccccctacggcccccaccccctggggctgggggt
ccagcgacaccttccaaggcaacccggttcctcccaatggatcctgccaccttccggcgc
aagagacccgaaagtgtgggtggcctggagccaccaggcccctcagtcatcgcggcccct
cccagcggaggaggaaacatcctgcagacactggtgctgcccccaaacaaggaggagcaa
gagggcggcggagccagagtgccctccgcccccgccccatcactggcctatggggcccca
gcagctcccctgtcccgtcctgccgccaccatggtcaccaatgtggtgcggcctgtcagc
agcactcctgtgcccatcgcctctaagcccttccccacctctggccgggctgaggcgtct
ccaaatgacacagcaggtgccaggactgaaatgggcactgggtctcgggtgcctgggggc
tccccgctgggtgtcagcttagtgtattcggacaagaagtcggcagcagccacctcacca
gccccacacttggtggctggacccctgctgggcactgtggggaaggcgcctgccactgtc
actaacctactggtgggcaccccggggtatggggcccctgcgccccctgctgtccagttc
attgcccagggggcccctggtggtgggaccactgcgggctcaggagcaggtgctgggagt
ggccccaatgggccagtacccctgggcatcctgcaaccaggtgccctgggcaaggctggg
ggaatcacccaggtacagtacatcctgcccacgctgccccagcagcttcaggtggcacct
gccccagcaccagcccctgggaccaaggcagcggctcccagcggccctgcacccaccacc
agcatccgtttcaccctcccaccgggcacttccaccaacggcaaagtcctggctgccact
gcacccactcctggcatccccatcctgcagtctgtaccctccgccccaccccccaaagcc
cagtcagtttctcccgtgcaggccccgcccccgggtggctcagcccagctgctgcctggg
aaggtcctagtgcctctggccgcccctagcatgtcagtgcggggtggaggggccggccag
ccactgccactggtgagcccgcccttctcagtacctgtgcagaatggtgcccagcccccc
agcaagatcatccagctgaccccggtgcctgtgagcacacccagcggcctggtgccgccc
ctgagcccagccacactccctggacccacctctcagcctcagaaggtcctgttgccctcc
tccaccagaatcacctatgtgcagtcagcgggcgggcacgcgctgcccctgggtaccagc
cctgcgtccagccaggctggaacagtcacctcgtacgggcccacgagctctgtagctcta
ggcttcacctcgctggggcccagcggccccgccttcgtgcagcccctgctctcagcaggc
caagccccactgctggctcccggtcaggtgggcgtgtcacctgtgcccagtccccagctg
ccgcctgcctgtgcagcccccggaggtcctgtcataacagcattttactctggcagccct
gcacccacctcctcagcacccctggcccagccatcccaggcccccccaagcctggtctac
actgtggccaccagcacaaccccacctgcagccaccattctgcccaagggcccgccagcc
cctgccactgccaccccagccccgactagccctttccccagcgccacagcaggttccatg
acctacagcttagtggcccccaaggcccagcggcccagcccgaaggccccccagaaagtg
aaggcagccatcgccagcattcccgtggggtcctttgaggcaggtgcctctgggcggcct
ggccctgcaccccggcagcctctggagcctggcccagtccgagagccaactgccccagag
tctgagcttgaggggcagcccacaccaccagcccctccacccctgccagagacctggact
cccacggcccggagcagccccccactgcccccacctgctgaggagcggaccagcgccaag
ggccctgagaccatggccagcaaattccccagctcatcttcagactggcgcgtccctggg
cagggcctggagaatcgtggggagcctcccactcctcccagcccggccccagctccagct
gtagcccctggtggcagcagcgagagcagcagtgggcgggcagccggggacaccccggag
cgcaaggaggcggctggtactggcaagaaggtgaaggtgcggcccccgcccctgaagaag
acctttgactctgtggacaacagggtcctgtcagaagtggacttcgaagagcgctttgct
gagttgcctgagtttcggcctgaggaggtgctgccctcccccaccctgcagtctctggcc
acctcaccccgggccatcctgggctcttaccgcaagaagaggaagaactccacggacctg
gattcagcacccgaggaccccacctcgcccaagcgcaagatgagaagacgctccagctgc
agctcggagcccaacacccccaagagtgccaagtgcgagggggacatcttcacctttgac
cgtacaggtacagaagccgaggacgtgcttggggagctagagtatgacaaggtgccatac
tcctccctgcggcgcaccctggaccagcgccgggccctggtcatgcagctctttcaggac
catggcttcttcccgtcagcccaggccacagccgccttccaggcccgctatgcagacatc
tttccctccaaggtttgtctgcagttgaagatccgtgaggtgcgccagaagatcatgcag
gctgccactcccacggagcagccccctggagctgaggctcctctccctgtaccgcccccc
actggcaccgctgctgcccctgcccccactcccagccccgcagggggccctgaccccacc
tcacccagctcggactctggcacggcccaggctgccccgccactgcctccacccccagag
tcggggcctggacagcctggctgggagggggctccccagccctcccccccacccccaggt
ccctccacagctgccacaggcaggtga

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