KEGG   Homo sapiens (human): 79648
Entry
79648             CDS       T01001                                 

Gene name
MCPH1, BRIT1, MCT
Definition
(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 and ciliogenesis proteins
   Other centriole associated proteins
    79648 (MCPH1)
SSDB
Motif
Pfam: Microcephalin PTCB-BRCT BRCT BRCT_2 LIG3_BRCT MSP OmpH
Other DBs
NCBI-GeneID: 79648
NCBI-ProteinID: NP_078872
OMIM: 607117
HGNC: 6954
Ensembl: ENSG00000147316
Vega: OTTHUMG00000163618
Pharos: Q8NEM0(Tbio)
UniProt: Q8NEM0
Structure
PDB: 

Position
8p23.1
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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (22)   
   KEGG ORTHOLOGY (1)   
   RefGene (13)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (20)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (18)   
DNA sequence (60)   
   RefSeq(nuc) (20)   
   GenBank (20)   
   EMBL (20)   
Protein domain (7)   
   Pfam (7)   
All databases (115)   

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