KEGG   Homo sapiens (human): 1911
Entry
1911              CDS       T01001                                 

Gene name
PHC1, EDR1, HPH1, MCPH11, RAE28
Definition
(RefSeq) polyhomeotic homolog 1
  KO
K11456  polyhomeotic-like protein 1
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]
    1911 (PHC1)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   Polycomb group proteins
    PRC1 (polycomb repressive complex 1)
     1911 (PHC1)
SSDB
Motif
Pfam: PHC2_SAM_assoc SAM_1 SAM_2 SAM_PNT zf-CGNR
Other DBs
NCBI-GeneID: 1911
NCBI-ProteinID: NP_004417
OMIM: 602978
HGNC: 3182
Ensembl: ENSG00000111752
Vega: OTTHUMG00000168275
Pharos: P78364(Tbio)
UniProt: P78364 Q6N083 Q6GMQ3
Structure
PDB: 
2L8E

Position
12p13.31
AA seq 1004 aa
METESEQNSNSTNGSSSSGGSSRPQIAQMSLYERQAVQALQALQRQPNAAQYFHQFMLQQ
QLSNAQLHSLAAVQQATIAASRQASSPNTSTTQQQTTTTQASINLATTSAAQLISRSQSV
SSPSATTLTQSVLLGNTTSPPLNQSQAQMYLRPQLGNLLQVNRTLGRNVPLASQLILMPN
GAVAAVQQEVPSAQSPGVHADADQVQNLAVRNQQASAQGPQMQGSTQKAIPPGASPVSSL
SQASSQALAVAQASSGATNQSLNLSQAGGGSGNSIPGSMGPGGGGQAHGGLGQLPSSGMG
GGSCPRKGTGVVQPLPAAQTVTVSQGSQTEAESAAAKKAEADGSGQQNVGMNLTRTATPA
PSQTLISSATYTQIQPHSLIQQQQQIHLQQKQVVIQQQIAIHHQQQFQHRQSQLLHTATH
LQLAQQQQQQQQQQQQQQQPQATTLTAPQPPQVPPTQQVPPSQSQQQAQTLVVQPMLQSS
PLSLPPDAAPKPPIPIQSKPPVAPIKPPQLGAAKMSAAQQPPPHIPVQVVGTRQPGTAQA
QALGLAQLAAAVPTSRGMPGTVQSGQAHLASSPPSSQAPGALQECPPTLAPGMTLAPVQG
TAHVVKGGATTSSPVVAQVPAAFYMQSVHLPGKPQTLAVKRKADSEEERDDVSTLGSMLP
AKASPVAESPKVMDEKSSLGEKAESVANVNANTPSSELVALTPAPSVPPPTLAMVSRQMG
DSKPPQAIVKPQILTHIIEGFVIQEGAEPFPVGCSQLLKESEKPLQTGLPTGLTENQSGG
PLGVDSPSAELDKKANLLKCEYCGKYAPAEQFRGSKRFCSMTCAKRYNVSCSHQFRLKRK
KMKEFQEANYARVRRRGPRRSSSDIARAKIQGKCHRGQEDSSRGSDNSSYDEALSPTSPG
PLSVRAGHGERDLGNPNTAPPTPELHGINPVFLSSNPSRWSVEEVYEFIASLQGCQEIAE
EFRSQEIDGQALLLLKEEHLMSAMNIKLGPALKICAKINVLKET
NT seq 3015 nt   +upstreamnt  +downstreamnt
atggagactgagagcgagcagaactccaattccaccaatgggagttctagctcagggggc
agctctcggccccagatagctcaaatgtcactttatgaacgacaagcagtgcaggctctg
caagcactgcagcggcagcccaatgcagctcagtatttccaccagttcatgctccagcag
cagctcagtaatgcccagctgcatagcctggctgccgtccagcaggccacaattgctgcc
agtcggcaggccagctccccaaacaccagcactacacagcagcagactaccaccacccag
gcctcgatcaatctggccaccacatcggccgcccagctcatcagccgatcccagagtgtg
agctctcccagtgctaccaccttgacccaatctgtgctactggggaacaccacctcccca
cccctcaaccagtctcaggcccagatgtatctacggccacagctgggaaacctattgcag
gtaaaccgaaccctgggtcggaatgtgcctctagcctcccaactcatcctgatgcctaat
ggggcggtggctgcagtccagcaggaggtgccatctgctcagtctcctggagttcatgca
gatgcagatcaggttcagaacttggcagtaaggaatcaacaggcctcagctcaaggacct
cagatgcaaggctccactcagaaggccattcctccaggagcctcccctgtctctagcctc
tcccaggcctctagccaggccctagcggtggcacaggcttcctctggggccacaaaccag
tccctcaaccttagtcaagctggtggaggcagtgggaatagcatcccagggtccatgggt
ccaggtggaggtgggcaggcacatggtggtttgggtcagttgccttcctcaggaatgggt
ggtgggagctgtcccagaaagggtacaggagtggtgcagcccttgcctgcagcccaaaca
gtgactgtgagccagggcagccagacagaggcagaaagtgcagcagccaagaaggcagaa
gcagatgggagtggccagcagaatgtgggcatgaacctgacacggacagccacacctgcg
cccagccagacacttattagctcagccacctacacacagatccagccccattcactgatt
cagcaacagcaacagatccacctccagcagaaacaggtggtgatccagcagcagattgcc
atccaccaccagcagcagttccagcaccggcagtcccagctccttcacacagctacacac
ctccagttggcgcagcagcagcagcagcaacaacagcaacagcagcaacagcagcagccg
caagccaccaccctcactgcccctcagccaccacaggtcccacctactcagcaggtccca
ccttcccagtcccagcagcaagcccaaaccctggtcgttcagcccatgcttcagtcttca
cccttgtctcttccacctgatgcagcccctaagccaccaattcccatccaatccaaacca
cctgtagcacctatcaagccgcctcagttaggggccgctaagatgtcagctgcccagcaa
ccaccaccccatatccctgtgcaagttgtaggcactcgacagccaggtacagcccaggca
caggctttggggttggcacagctggcagctgctgtacctacttcccgggggatgccaggt
acagtgcagtctggtcaggcccatttggcctcctcgccaccttcatcccaggctcctggt
gcactgcaggagtgccctcccacattggcccctgggatgacccttgctcctgtgcagggg
acagcacatgtggtaaagggtggggctaccacctcctcacctgttgtagcccaggtccct
gctgccttctatatgcagtctgtgcacttgccgggtaaaccccagacattggctgtcaaa
cgcaaggctgactctgaggaggagagagatgatgtctccacattgggttcaatgcttcct
gccaaggcatctccagtagcagaaagcccaaaagtcatggacgagaagagcagtcttgga
gaaaaagctgaatcagtggctaatgtgaatgctaatactccaagcagtgaactagtagcc
ttgacccccgccccttcagtaccgcctcctacactagccatggtgtctagacaaatgggt
gactcaaaacccccacaggccatcgtgaagccccagattctcacccacatcattgaaggc
tttgttatccaggaaggagcagaacctttcccggtgggttgttctcagttactgaaggag
tctgagaagccactacagactggccttccgacagggctgactgagaatcagtcaggtggc
cctttgggagtggacagcccatctgctgagttagataagaaggcgaatctcctgaagtgc
gagtactgtgggaagtacgcccccgcagagcagtttcgtggctctaagaggttctgctcc
atgacttgcgctaagaggtacaatgtgagctgtagccatcagttccggctgaagaggaaa
aaaatgaaagagtttcaagaagccaactatgctcgcgttcgcaggcgtggaccccgccgc
agctcctctgacattgcccgtgccaagattcagggcaagtgccaccggggtcaagaagac
tctagccggggttcagataattccagttatgatgaagcactctctccaacatctcctggg
cctttatcagtaagagctgggcatggagaacgtgacctggggaatcccaatacagctcca
cctacaccggaattacatggcatcaaccctgtgttcctgtccagtaatcccagccgttgg
agtgtagaggaggtgtacgagtttattgcttctctccaaggctgccaagagattgcagag
gaatttcgctcacaggagattgatggacaggcccttttattacttaaagaagaacatctt
atgagtgccatgaacatcaagctgggccctgccctcaagatctgcgccaagataaatgtc
ctcaaggagacctaa

  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 (11)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (13)   
   UniProt (3)   
   SWISS-PROT (1)   
   RefSeq(pep) (9)   
DNA sequence (33)   
   RefSeq(nuc) (9)   
   GenBank (12)   
   EMBL (12)   
Protein domain (5)   
   Pfam (5)   
All databases (79)   

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