KEGG   Homo sapiens (human): 6598Help
Entry
6598              CDS       T01001                                 

Gene name
SMARCB1, BAF47, CSS3, INI1, MRD15, PPP1R144, RDT, RTPS1, SNF5, SNF5L1, SWNTS1, Sfh1p, Snr1, hSNFS
Definition
(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
hsa04714  Thermogenesis
hsa05225  Hepatocellular carcinoma
Disease
H00773  Autosomal dominant mental retardation
H01134  Rhabdoid predisposition syndrome
H01403  Coffin-Siris syndrome
H01556  Meningioma
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09159 Environmental adaptation
   04714 Thermogenesis
    6598 (SMARCB1)
 09160 Human Diseases
  09162 Cancers: 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 Ser/ Thr 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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: SNF5 DUF1679
Motif
Other DBs
NCBI-GeneID: 6598
NCBI-ProteinID: NP_003064
OMIM: 601607
HGNC: 11103
Ensembl: ENSG00000099956
Vega: OTTHUMG00000150737
Pharos: Q12824(Tbio)
UniProt: Q12824
Structure
PDB: 

Position
22q11.23; 22q11
AA seq 385 aa AA seqDB search
MMMMALSKTFGQKPVKFQLEDDGEFYMIGSEVGNYLRMFRGSLYKRYPSLWRRLATVEER
KKIVASSHGKKTKPNTKDHGYTTLATSVTLLKASEVEEILDGNDEKYKAVSISTEPPTYL
REQKAKRNSQWVPTLPNSSHHLDAVPCSTTINRNRMGRDKKRTFPLCFDDHDPAVIHENA
SQPEVLVPIRLDMEIDGQKLRDAFTWNMNEKLMTPEMFSEILCDDLDLNPLTFVPAIASA
IRQQIESYPTDSILEDQSDQRVIIKLNIHVGNISLVDQFEWDMSEKENSPEKFALKLCSE
LGLGGEFVTTIAYSIRGQLSWHQKTYAFSENPLPTVEIAIRNTGDADQWCPLLETLTDAE
MEKKIRDQDRNTRRMRRLANTAPAW
NT seq 1158 nt NT seq  +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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