KEGG   Homo sapiens (human): 6598
Entry
6598              CDS       T01001                                 
Symbol
SMARCB1, BAF47, CSS3, INI-1, INI1, MRD15, PPP1R144, RDT, RTPS1, SNF5, SNF5L1, SWNTS1, Sfh1p, Snr1, hSNFS
Name
(RefSeq) SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
  KO
K11648  SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa03082  ATP-dependent chromatin remodeling
hsa03250  Viral life cycle - HIV-1
hsa04714  Thermogenesis
hsa05225  Hepatocellular carcinoma
Network
nt06529  Thermogenesis
  Element
N01688  ADRB3-UCP1 signaling pathway
Disease
H00773  Autosomal dominant intellectual developmental disorder
H01134  Rhabdoid predisposition syndrome
H01403  Coffin-Siris syndrome
H01556  Meningioma
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09126 Chromosome
   03082 ATP-dependent chromatin remodeling
    6598 (SMARCB1)
  09125 Information processing in viruses
   03250 Viral life cycle - HIV-1
    6598 (SMARCB1)
 09150 Organismal Systems
  09159 Environmental adaptation
   04714 Thermogenesis
    6598 (SMARCB1)
 09160 Human Diseases
  09162 Cancer: specific types
   05225 Hepatocellular carcinoma
    6598 (SMARCB1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01009 Protein phosphatases and associated proteins [BR:hsa01009]
    6598 (SMARCB1)
  09182 Protein families: genetic information processing
   03021 Transcription machinery [BR:hsa03021]
    6598 (SMARCB1)
   03036 Chromosome and associated proteins [BR:hsa03036]
    6598 (SMARCB1)
Protein phosphatases and associated proteins [BR:hsa01009]
 Protein serine/threonine phosphatases
  Phosphoprotein phosphatases (PPPs)
   Protein phosphatase-1
    PP1-interacting proteins (PIPs)
     6598 (SMARCB1)
Transcription machinery [BR:hsa03021]
 Eukaryotic type
  RNA polymerase II system
   Coactivators
    BAF/PBAF complex
     6598 (SMARCB1)
    SWI/SNF complex
     6598 (SMARCB1)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Chromatin remodeling factors
   BAF complex
    6598 (SMARCB1)
   PBAF complex
    6598 (SMARCB1)
   SWI/SNF complex
    6598 (SMARCB1)
SSDB
Motif
Pfam: SNF5 INI1_DNA-bd DUF1679
Other DBs
NCBI-GeneID: 6598
NCBI-ProteinID: NP_003064
OMIM: 601607
HGNC: 11103
Ensembl: ENSG00000099956
UniProt: Q12824
Structure
Position
22:23786966..23838009
AA seq 385 aa
MMMMALSKTFGQKPVKFQLEDDGEFYMIGSEVGNYLRMFRGSLYKRYPSLWRRLATVEER
KKIVASSHGKKTKPNTKDHGYTTLATSVTLLKASEVEEILDGNDEKYKAVSISTEPPTYL
REQKAKRNSQWVPTLPNSSHHLDAVPCSTTINRNRMGRDKKRTFPLCFDDHDPAVIHENA
SQPEVLVPIRLDMEIDGQKLRDAFTWNMNEKLMTPEMFSEILCDDLDLNPLTFVPAIASA
IRQQIESYPTDSILEDQSDQRVIIKLNIHVGNISLVDQFEWDMSEKENSPEKFALKLCSE
LGLGGEFVTTIAYSIRGQLSWHQKTYAFSENPLPTVEIAIRNTGDADQWCPLLETLTDAE
MEKKIRDQDRNTRRMRRLANTAPAW
NT seq 1158 nt   +upstreamnt  +downstreamnt
atgatgatgatggcgctgagcaagaccttcgggcagaagcccgtgaagttccagctggag
gacgacggcgagttctacatgatcggctccgaggtgggaaactacctccgtatgttccga
ggttctctgtacaagagatacccctcactctggaggcgactagccactgtggaagagagg
aagaaaatagttgcatcgtcacatggtaaaaaaacaaaacctaacactaaggatcacgga
tacacgactctagccaccagtgtgaccctgttaaaagcctcggaagtggaagagattctg
gatggcaacgatgagaagtacaaggctgtgtccatcagcacagagccccccacctacctc
agggaacagaaggccaagaggaacagccagtgggtacccaccctgcccaacagctcccac
cacttagatgccgtgccatgctccacaaccatcaacaggaaccgcatgggccgagacaag
aagagaaccttccccctttgctttgatgaccatgacccagctgtgatccatgagaacgca
tctcagcccgaggtgctggtccccatccggctggacatggagatcgatgggcagaagctg
cgagacgccttcacctggaacatgaatgagaagttgatgacgcctgagatgttttcagaa
atcctctgtgacgatctggatttgaacccgctgacgtttgtgccagccatcgcctctgcc
atcagacagcagatcgagtcctaccccacggacagcatcctggaggaccagtcagaccag
cgcgtcatcatcaagctgaacatccatgtgggaaacatttccctggtggaccagtttgag
tgggacatgtcagagaaggagaactcaccagagaagtttgccctgaagctgtgctcggag
ctggggttgggcggggagtttgtcaccaccatcgcatacagcatccggggacagctgagc
tggcatcagaagacctacgccttcagcgagaaccctctgcccacagtggagattgccatc
cggaacacgggcgatgcggaccagtggtgcccactgctggagactctgacagacgctgag
atggagaagaagatccgcgaccaggacaggaacacgaggcggatgaggcgtcttgccaac
acggccccggcctggtaa

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