KEGG   Homo sapiens (human): 6605
Entry
6605              CDS       T01001                                 

Gene name
SMARCE1, BAF57, CSS5
Definition
(RefSeq) SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
  KO
K11651  SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E, member 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04714  Thermogenesis
hsa05225  Hepatocellular carcinoma
Disease
H01403  Coffin-Siris syndrome
H01556  Meningioma
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09159 Environmental adaptation
   04714 Thermogenesis
    6605 (SMARCE1)
 09160 Human Diseases
  09162 Cancer: specific types
   05225 Hepatocellular carcinoma
    6605 (SMARCE1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03021 Transcription machinery [BR:hsa03021]
    6605 (SMARCE1)
   03036 Chromosome and associated proteins [BR:hsa03036]
    6605 (SMARCE1)
Transcription machinery [BR:hsa03021]
 Eukaryotic type
  RNA polymerase II system
   Coactivators
    BAF/PBAF complex
     6605 (SMARCE1)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Chromatin remodeling factors
   BAF complex
    6605 (SMARCE1)
   PBAF complex
    6605 (SMARCE1)
SSDB
Motif
Pfam: HMG_box HMG_box_2 GCN5L1 Pepsin-I3
Other DBs
NCBI-GeneID: 6605
NCBI-ProteinID: NP_003070
OMIM: 603111
HGNC: 11109
Ensembl: ENSG00000073584
Vega: OTTHUMG00000133367
Pharos: Q969G3(Tbio)
UniProt: Q969G3 A0A024R1S7
LinkDB
Position
17q21.2
AA seq 411 aa
MSKRPSYAPPPTPAPATQMPSTPGFVGYNPYSHLAYNNYRLGGNPGTNSRVTASSGITIP
KPPKPPDKPLMPYMRYSRKVWDQVKASNPDLKLWEIGKIIGGMWRDLTDEEKQEYLNEYE
AEKIEYNESMKAYHNSPAYLAYINAKSRAEAALEEESRQRQSRMEKGEPYMSIQPAEDPD
DYDDGFSMKHTATARFQRNHRLISEILSESVVPDVRSVVTTARMQVLKRQVQSLMVHQRK
LEAELLQIEERHQEKKRKFLESTDSFNNELKRLCGLKVEVDMEKIAAEIAQAEEQARKRQ
EEREKEAAEQAERSQSSIVPEEEQAANKGEEKKDDENIPMETEETHLEETTESQQNGEEG
TSTPEDKESGQEGVDSMAEEGTSDSNTGSESNSATVEEPPTDPIPEDEKKE
NT seq 1236 nt   +upstreamnt  +downstreamnt
atgtcaaaaagaccatcttatgccccacctcccaccccagctcctgcaacacaaatgccc
agcacaccagggtttgtgggatacaatccatacagtcatctcgcctacaacaactacagg
ctgggagggaacccgggcaccaacagccgggtcacggcatcctctggtatcacgattcca
aaacccccaaagccaccagataagccgctgatgccctacatgaggtacagcagaaaggtc
tgggaccaagtaaaggcttccaaccctgacctaaagttgtgggagattggcaagattatt
ggtggcatgtggcgagatctcactgatgaagaaaaacaagaatatttaaacgaatacgaa
gcagaaaagatagagtacaatgaatctatgaaggcctatcataattcccccgcgtacctt
gcttacataaatgcaaaaagtcgtgcagaagctgctttagaggaagaaagtcgacagaga
caatctcgcatggagaaaggagaaccgtacatgagcattcagcctgctgaagatccagat
gattatgatgatggcttttcaatgaagcatacagccaccgcccgtttccagagaaaccac
cgcctcatcagtgaaattcttagtgagagtgtggtgccagacgttcggtcagttgtcaca
acagctagaatgcaggtcctcaaacggcaggtccagtccttaatggttcatcagcgaaaa
ctagaagctgaacttcttcaaatagaggaacgacaccaggagaagaagaggaaattcctg
gaaagcacagattcatttaacaatgaacttaaaaggttgtgcggtctgaaagtagaagtg
gatatggagaaaattgcagctgagattgcacaggcagaggaacaggcccgcaaaaggcag
gaggaaagggagaaggaggccgcagagcaagctgagcgcagtcagagcagcatcgttcct
gaggaagaacaagcagctaacaaaggcgaggagaagaaagacgacgagaacattccgatg
gagacagaggagacacaccttgaagaaacaacagagagccaacagaatggtgaagaaggc
acgtctactcctgaggacaaggagagtgggcaggagggggtcgacagtatggcagaggaa
ggaaccagtgatagtaacactggctcggagagcaacagtgcaacagtggaggagccacca
acagatcccataccagaagatgagaaaaaagaataa

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