KEGG   Homo sapiens (human): 79648
Entry
79648             CDS       T01001                                 
Symbol
MCPH1, BRIT1, MCT
Name
(RefSeq) microcephalin 1
  KO
K19403  microcephalin
Organism
hsa  Homo sapiens (human)
Disease
H00269  Primary microcephaly
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    79648 (MCPH1)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation proteins
   Other centriole associated proteins
    79648 (MCPH1)
SSDB
Motif
Pfam: Microcephalin PTCB-BRCT BRCT BRCT_2 LIG3_BRCT MSP
Other DBs
NCBI-GeneID: 79648
NCBI-ProteinID: NP_078872
OMIM: 607117
HGNC: 6954
Ensembl: ENSG00000147316
Pharos: Q8NEM0(Tbio)
UniProt: Q8NEM0
Structure
Position
8:6406627..6648508
AA seq 835 aa
MAAPILKDVVAYVEVWSSNGTENYSKTFTTQLVDMGAKVSKTFNKQVTHVIFKDGYQSTW
DKAQKRGVKLVSVLWVEKCRTAGAHIDESLFPAANMNEHLSSLIKKKRKCMQPKDFNFKT
PENDKRFQKKFEKMAKELQRQKTNLDDDVPILLFESNGSLIYTPTIEINSRHHSAMEKRL
QEMKEKRENLSPTSSQMIQQSHDNPSNSLCEAPLNISRDTLCSDEYFAGGLHSSFDDLCG
NSGCGNQERKLEGSINDIKSDVCISSLVLKANNIHSSPSFTHLDKSSPQKFLSNLSKEEI
NLQRNIAGKVVTPDQKQAAGMSQETFEEKYRLSPTLSSTKGHLLIHSRPRSSSVKRKRVS
HGSHSPPKEKCKRKRSTRRSIMPRLQLCRSEDRLQHVAGPALEALSCGESSYDDYFSPDN
LKERYSENLPPESQLPSSPAQLSCRSLSKKERTSIFEMSDFSCVGKKTRTVDITNFTAKT
ISSPRKTGNGEGRATSSCVTSAPEEALRCCRQAGKEDACPEGNGFSYTIEDPALPKGHDD
DLTPLEGSLEEMKEAVGLKSTQNKGTTSKISNSSEGEAQSEHEPCFIVDCNMETSTEEKE
NLPGGYSGSVKNRPTRHDVLDDSCDGFKDLIKPHEELKKSGRGKKPTRTLVMTSMPSEKQ
NVVIQVVDKLKGFSIAPDVCETTTHVLSGKPLRTLNVLLGIARGCWVLSYDWVLWSLELG
HWISEEPFELSHHFPAAPLCRSECHLSAGPYRGTLFADQPAMFVSPASSPPVAKLCELVH
LCGGRVSQVPRQASIVIGPYSGKKKATVKYLSEKWVLDSITQHKVCAPENYLLSQ
NT seq 2508 nt   +upstreamnt  +downstreamnt
atggcggcccccatcctgaaagatgtagtggcctatgttgaagtgtggtcatccaatgga
acagaaaattattcaaagacatttacaacacagcttgtggatatgggggcaaaggtttca
aaaacttttaacaaacaagtaactcacgttatcttcaaagatggctaccagagcacttgg
gacaaagctcagaagagaggcgtaaagctcgtttcggtgctctgggtggaaaaatgcagg
acagctggagcacacattgatgaatcattgttccctgcagctaatatgaatgaacactta
tcaagcctaattaaaaaaaaacgtaaatgtatgcagcccaaagattttaattttaaaaca
ccagaaaatgataagagatttcagaagaaatttgagaaaatggctaaagagctacaaagg
caaaaaacaaatctagatgatgatgtacctattctcttatttgaatctaatggttcatta
atatatactcccacaattgaaattaatagtaggcaccacagcgcaatggagaagagatta
caagagatgaaggagaaaagggaaaatctttcccccacctcttcccaaatgattcagcag
tctcatgataatccaagtaactctctgtgtgaagcacctttgaacatttcacgtgatact
ttgtgttcagatgaatactttgctggtggcttacactcatcttttgatgatctttgtgga
aactcaggatgtggaaatcaggaaaggaagttggaaggatccattaatgacattaaaagt
gatgtgtgtatttcttcacttgtattgaaagcaaataatattcattcatcaccatctttc
actcacctcgataaatcaagtcctcagaaatttctgagtaatctttcaaaggaagaaata
aacttgcaaagaaatattgcaggtaaagtagtcacccctgaccaaaagcaggctgcaggt
atgtctcaggagacgtttgaagagaagtatcgtttgtctcctaccttatcttcaacaaaa
ggccaccttttgatacattcaagacccaggagttcctcagtaaagagaaaaagagtatca
catggctcccattcacctccgaaggaaaaatgcaagagaaagaggagcaccaggagatct
atcatgccgaggctgcagctgtgcaggtcggaagacaggctgcagcacgtggcgggacct
gccctggaggctcttagctgtggggagtcttcatatgatgactatttttcacctgataat
cttaaggaaaggtattcagagaatcttcctcctgaatctcagctgccatcaagccctgct
cagttgagctgcagaagtctttctaagaaggagagaacaagcatatttgaaatgtctgat
ttttcctgcgttggcaaaaaaaccagaacagttgacattaccaatttcacagcaaaaacc
atctccagtcctcggaaaactggaaatggtgaaggccgtgcaacttcgagttgcgtgact
tctgcccctgaagaagccctaaggtgttgtagacaggctgggaaagaagacgcatgccca
gagggaaatggcttttcttacaccattgaggaccctgctcttccaaaaggacatgatgat
gatttaactcctttggaaggaagccttgaagaaatgaaagaagcggttggtctgaaaagc
acacagaacaaaggtaccacttccaaaatatcaaactcctctgaaggcgaagcccagagt
gaacatgagccatgttttatagttgactgtaacatggagacgtctacagaagagaaggaa
aacttacccggaggatacagtggaagtgttaaaaatagaccaacaaggcatgatgtttta
gatgactcatgtgacggctttaaggacctcatcaaacctcatgaggaattgaagaaaagt
gggagaggcaaaaagccaacaagaacattagtcatgacaagcatgccatctgaaaagcag
aatgtcgtcatccaggttgtggataaattgaaaggcttttcaattgcaccagacgtctgt
gagaccacgactcacgtgctttccgggaagccacttcgcaccctgaatgtgctgctggga
attgcgcgtggctgctgggttctctcttatgattgggtgctatggtctttagaattgggt
cactggatttctgaggagccgttcgaactgtctcaccacttccctgcagctcccctgtgc
cgaagcgagtgccacttgtctgcagggccgtaccgcggaaccctctttgccgaccagcca
gcgatgtttgtctcgcctgccagcagccccccagtggccaagctctgtgaactagtccac
ctgtgcggaggccgggtcagccaagtcccccgccaggccagcatcgtcatcgggccctac
agcggaaagaagaaagccacagtcaagtatctgtctgagaaatgggtcttagattccatc
acccagcacaaggtctgtgcccctgaaaactacctattgtcacaatga

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