KEGG T01001: 6598

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 BAF chromatin remodeling complex subunit B1

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:

NCBI-ProteinID:

OMIM:

HGNC:

Ensembl:

UniProt:

Structure

LinkDB

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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