KEGG   Homo sapiens (human): 221927
Entry
221927            CDS       T01001                                 
Symbol
BRAT1, BAAT1, C7orf27, NEDCAS, RMFSL
Name
(RefSeq) integrator complex assembly factor BRAT1 isoform 2
  KO
K23112  BRCA1-associated ATM activator 1
Organism
hsa  Homo sapiens (human)
Disease
H00577  Symptomatic generalized epilepsies
H02470  Neurodevelopmental disorder with structural brain abnormalities
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03400 DNA repair and recombination proteins [BR:hsa03400]
    221927 (BRAT1)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  DSBR (double strand breaks repair)
   HR (homologous recombination)
    Other HR factors
     221927 (BRAT1)
SSDB
Motif
Pfam: BRAT1 HEAT HEAT_2 HEAT_EZ HEAT_MROH2B_C TOR1L1_N PIK3R4-like_middle RTP1_C1 UTP20_N
Other DBs
NCBI-GeneID: 221927
NCBI-ProteinID: NP_689956
OMIM: 614506
HGNC: 21701
Ensembl: ENSP00000339637.4
UniProt: Q6PJG6
Structure
Position
7:complement(2537810..2555524)
AA seq 821 aa
MDPECAQLLPALCAVLVDPRQPVADDTCLEKLLDWFKTVTEGESSVVLLQEHPCLVELLS
HVLKVQDLSSGVLSFSLRLAGTFAAQENCFQYLQQGELLPGLFGEPGPLGRATWAVPTVR
SGWIQGLRSLAQHPSALRFLADHGAVDTIFSLQGDSSLFVASAASQLLVHVLALSMRGGA
EGQPCLPGGDWPACAQKIMDHVEESLCSAATPKVTQALNVLTTTFGRCQSPWTEALWVRL
SPRVACLLERDPIPAAHSFVDLLLCVARSPVFSSSDGSLWETVARALSCLGPTHMGPLAL
GILKLEHCPQALRTQAFQVLLQPLACVLKATVQAPGPPGLLDGTADDATTVDTLLASKSS
CAGLLCRTLAHLEELQPLPQRPSPWPQASLLGATVTVLRLCDGSAAPASSVGGHLCGTLA
GCVRVQRAALDFLGTLSQGTGPQELVTQALAVLLECLESPGSSPTVLKKAFQATLRWLLS
SPKTPGCSDLGPLIPQFLRELFPVLQKRLCHPCWEVRDSALEFLTQLSRHWGGQADFRCA
LLASEVPQLALQLLQDPESYVRASAVTAMGQLSSQGLHAPTSPEHAEARQSLFLELLHIL
SVDSEGFPRRAVMQVFTEWLRDGHADAAQDTEQFVATVLQAASRDLDWEVRAQGLELALV
FLGQTLGPPRTHCPYAVALPEVAPAQPLTEALRALCHVGLFDFAFCALFDCDRPVAQKSC
DLLLFLRDKIASYSSLREARGSPNTASAEATLPRWRAGEQAQPPGDQEPEAVLAMLRSLD
LEGLRSTLAESSDHVEKSPQSLLQDMLATGGFLQGDEADCY
NT seq 2466 nt   +upstreamnt  +downstreamnt
atggacccagaatgcgcccagctgctcccggctctctgtgctgttctggtagatcccagg
cagccggtggcagatgacacctgtttggagaagctcctggactggtttaaaacggtcact
gaaggagagtccagtgtcgtgctgctgcaggagcacccctgcctggtggagctgctgtcc
catgtgctgaaagtccaggacctgagttctggggtcctctccttctcactgcgcctggca
ggaaccttcgcagcccaggaaaactgcttccagtatcttcagcagggggagttactacca
gggctctttggggagccaggacccctcggccgagcaacctgggccgtccccaccgtgcgc
agcggctggatccagggcctgcgctccctggcacagcaccccagcgccctgcgcttcctg
gccgaccatggtgcggtcgacaccatcttctccctgcagggagactccagcctgtttgtg
gcctcggcggccagtcagctcctggtgcacgtcctggctttgtccatgcgaggtggagcc
gaggggcagccctgcctgccggggggtgactggcccgcgtgtgcccagaagatcatggat
cacgttgaagagtccttgtgctccgcggccacccccaaggtcactcaggccctgaacgtc
ctgaccacgaccttcgggcgctgccagagcccctggacggaagccctgtgggtgcggctg
agtccccgcgtggcctgtctgctggagagagaccccatccccgccgcacactcgttcgtg
gacctgcttctctgtgtggctcgttctcccgtgttcagttcttccgacggcagcctgtgg
gagacagtggcgcgggctctgagctgcctgggtcccacccacatgggacccctggctttg
gggatcctgaagctcgagcactgtccacaggcactgaggacccaggccttccaggtcctt
ctccagcccctggcctgtgtcctgaaggccacggttcaggcccccggacccccaggcttg
ctggacgggacggcagacgatgccacgacggtggacacactcctggcctccaagtcgtcc
tgcgccggcctcctgtgccgcaccctggctcacctggaggagctgcagccgctgccccag
cgcccttcaccgtggccccaggcgtctctactgggggctacagtgactgtcctgcggctc
tgtgacggctcggctgcccctgcctccagtgtggggggccacctctgtgggaccctggcg
ggctgcgtccgggtccagcgagcagccctcgacttcctggggacgctgtcacaggggaca
ggcccccaggagctggtgacgcaggcgcttgctgtcctcctggagtgcctcgagagcccc
ggctccagccccacggttctgaagaaggccttccaggccacgctcaggtggctcctgagc
tcacccaagacccccggctgctctgatctcggccccctcatcccgcagttcctcagagag
ctgttccctgtgctgcagaaacgcctgtgccacccctgctgggaggtgagggactccgcc
ctcgagttcctgacccagctgagcaggcactggggaggacaggctgacttcagatgcgca
ctcttggcttcagaggtgcctcagctggccctgcagctcctccaggaccctgagagttat
gtccgagcgagtgcagtgaccgccatggggcagctgtccagccagggcctgcacgccccc
accagccctgagcatgcagaggcccggcagagcctgttcctggagctcctgcacatcctc
tccgtagactcggagggcttcccacggcgggcggtcatgcaagtcttcactgagtggctg
cgggacggccacgccgacgcggcccaggacacggagcagttcgtggccactgtgctgcag
gcggcgagccgagacctggactgggaggtccgcgcccagggcctggagctggccctcgtg
ttcctgggccagactttggggccgccgcgtacccactgcccctatgccgtggccctaccc
gaggtggccccagcccagccactcaccgaggcactgagggctctctgccacgtggggctc
tttgacttcgccttttgtgccttgtttgactgcgaccgccctgtggcgcagaagtcttgt
gacctccttctcttcctgagggacaagattgcttcctacagcagcctgcgggaggccagg
ggcagccccaacactgcctccgcagaggccaccctgccgaggtggcgggcgggtgagcag
gcccagcccccaggggaccaggagcctgaggctgtgctggccatgctcaggtccctagac
ctggagggcctgcggagcacgctggccgagagcagcgaccacgtggaaaagagtccccag
tccctcctgcaggacatgctggccacgggaggcttcctgcagggggacgaggccgactgc
tactga

  All links  
Disease (3)   
   OMIM (3)   
Gene (41)   
   RefGene (13)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (23)   
   OC (1)   
Protein sequence (43)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (41)   
DNA sequence (64)   
   RefSeq(nuc) (42)   
   GenBank (11)   
   EMBL (11)   
3D Structure (5)   
   PDB (5)   
Protein domain (9)   
   Pfam (9)   
All databases (165)   

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