KEGG   Homo sapiens (human): 56916
Entry
56916             CDS       T01001                                 
Symbol
SMARCAD1, ADERM, BASNS, ETL1, HEL1, HRZ
Name
(RefSeq) SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
  KO
K14439  SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 [EC:5.6.2.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04550  Signaling pathways regulating pluripotency of stem cells
Disease
H02295  Adermatoglyphia
H02296  Basan syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04550 Signaling pathways regulating pluripotency of stem cells
    56916 (SMARCAD1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    56916 (SMARCAD1)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.6  Isomerases altering macromolecular conformation
   5.6.2  Enzymes altering nucleic acid conformation
    5.6.2.-
     56916 (SMARCAD1)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Chromatin remodeling factors
   Other chromatin remodeling factors
    56916 (SMARCAD1)
SSDB
Motif
Pfam: SNF2-rel_dom Helicase_C ResIII ERCC3_RAD25_C DEAD CUE Pox_D5
Other DBs
NCBI-GeneID: 56916
NCBI-ProteinID: NP_064544
OMIM: 612761
HGNC: 18398
Ensembl: ENSG00000163104
Vega: OTTHUMG00000130971
Pharos: Q9H4L7(Tbio)
UniProt: Q9H4L7
Structure
LinkDB
Position
4:94207608..94291292
AA seq 1026 aa
MNLFNLDRFRFEKRNKIEEAPEATPQPSQPGPSSPISLSAEEENAEGEVSRANTPDSDIT
EKTEDSSVPETPDNERKASISYFKNQRGIQYIDLSSDSEDVVSPNCSNTVQEKTFNKDTV
IIVSEPSEDEESQGLPTMARRNDDISELEDLSELEDLKDAKLQTLKELFPQRSDNDLLKL
IESTSTMDGAIAAALLMFGDAGGGPRKRKLSSSSEPYEEDEFNDDQSIKKTRLDHGEESN
ESAESSSNWEKQESIVLKLQKEFPNFDKQELREVLKEHEWMYTEALESLKVFAEDQDMQY
VSQSEVPNGKEVSSRSQNYPKNATKTKLKQKFSMKAQNGFNKKRKKNVFNPKRVVEDSEY
DSGSDVGSSLDEDYSSGEEVMEDGYKGKILHFLQDASIGELTLIPQCSQKKAQKITELRP
FNSWEALFTKMSKTNGLSEDLIWHCKTLIQERDVVIRLMNKCEDISNKLTKQVTMLTGNG
GGWNIEQPSILNQSLSLKPYQKVGLNWLALVHKHGLNGILADEMGLGKTIQAIAFLAYLY
QEGNNGPHLIVVPASTIDNWLREVNLWCPTLKVLCYYGSQEERKQIRFNIHSRYEDYNVI
VTTYNCAISSSDDRSLFRRLKLNYAIFDEGHMLKNMGSIRYQHLMTINANNRLLLTGTPV
QNNLLELMSLLNFVMPHMFSSSTSEIRRMFSSKTKSADEQSIYEKERIAHAKQIIKPFIL
RRVKEEVLKQLPPKKDRIELCAMSEKQEQLYLGLFNRLKKSINNLEKNTEMCNVMMQLRK
MANHPLLHRQYYTAEKLKEMSQLMLKEPTHCEANPDLIFEDMEVMTDFELHVLCKQYRHI
NNFQLDMDLILDSGKFRVLGCILSELKQKGDRVVLFSQFTMMLDILEVLLKHHQHRYLRL
DGKTQISERIHLIDEFNTDMDIFVFLLSTKAGGLGINLTSANVVILHDIDCNPYNDKQAE
DRCHRVGQTKEVLVIKLISQGTIEESMLKINQQKLKLEQDMTTVDEGDEGSMPADIATLL
KTSMGL
NT seq 3081 nt   +upstreamnt  +downstreamnt
atgaatcttttcaacctggaccgttttcgctttgagaaaaggaataagattgaggaagcg
cccgaagcaacccctcaaccttcccagcctggcccttcttcaccaatttctcttagtgct
gaagaggagaatgctgaaggggaagttagcagggcaaacactcctgattcagatataact
gaaaaaacagaagattctagtgttccagaaactccagataatgaaagaaaagcaagtata
tcatatttcaaaaatcaaagaggaatacagtatattgatttgtcttctgatagtgaagat
gtcgtttccccaaattgctccaatacagttcaagagaaaacattcaacaaagatacagtg
attatagtttctgagccatctgaagatgaagagtcccaaggccttcctaccatggcacgt
agaaatgatgatatttcagaactggaagacctttcggaattggaagaccttaaagatgct
aaacttcagactttgaaggaactttttccacaaagaagtgacaatgatttacttaagttg
attgaatcaacaagcactatggatggagcaattgctgctgccttgctgatgtttggtgat
gcaggtggtgggcccaggaaaagaaaattatcttcttcttcagagccatatgaggaagat
gaatttaatgatgatcaatctataaaaaagacaagactggatcatggagaggaatcaaat
gagtctgcagaatctagcagtaattgggaaaagcaggaaagtattgtactgaaattgcaa
aaggaatttcccaattttgataaacaggaacttagagaagtactcaaggaacatgaatgg
atgtacacagaagctttagaatctctaaaagtgtttgcagaagaccaagatatgcaatat
gtatcacaaagtgaggttccaaatggaaaagaagtttcttcaagaagtcaaaattaccct
aaaaatgcaactaaaacaaaactaaaacagaaattttcaatgaaagcacaaaatggcttt
aacaagaaacgtaaaaaaaatgtttttaatccaaagagagttgttgaagactctgaatat
gattcaggttctgatgtcggtagttcactagatgaggactatagtagtggtgaagaagtg
atggaggatggctataaaggtaaaattcttcacttccttcaagatgcttcaattggtgaa
cttactttgattcctcagtgttctcagaaaaaggctcagaagataacagaactccggccc
tttaatagttgggaggctctgttcacaaagatgtccaaaactaatggcttatcagaagat
ttgatatggcactgtaaaacactgatccaagaaagagatgtagttataaggcttatgaac
aaatgtgaagacatttcaaataaattgaccaaacaagttaccatgcttactggaaatgga
ggtggatggaacatagaacaaccttccattctaaaccaaagtttgtcactcaagccctat
cagaaggttggtttgaattggctggcattggtacataaacatggacttaatggcattttg
gcagatgaaatgggcctaggaaaaactattcaagccattgcatttctggcatacctctat
caggagggtaataatggtcctcatttgatcgttgttccagcttcaactatagataactgg
ttaagggaagttaatttatggtgccctactttgaaggtcctctgttactatggttctcaa
gaagaacgtaaacaaattagatttaacattcatagtagatatgaagattacaatgtaatt
gtgaccacatataactgtgcgatcagcagttctgatgaccgtagtctgtttcgacggctg
aaacttaattacgcaatttttgatgagggccatatgctgaagaatatgggctccattcgc
taccagcaccttatgacaattaatgcaaataaccgtttgctgctcacaggcacacctgta
cagaacaatctgttagaactcatgtcgctgttgaattttgttatgccacacatgtttagt
agtagcaccagtgaaatacgaagaatgttttcctctaagacaaaatcagcagatgagcaa
agcatatatgaaaaggagagaatagcacatgcaaaacaaattataaagccatttattctc
agaagagtaaaagaagaggttctcaagcagttaccccccaagaaagatcgaattgagttg
tgtgcaatgtcggagaagcaggagcaactctatttgggtcttttcaacagattgaaaaaa
tctatcaataacttggaaaaaaacacagaaatgtgcaatgtcatgatgcagttgaggaaa
atggccaatcatcctttattacatcgccaatattacacagctgaaaaactcaaggaaatg
tctcagcttatgctaaaggaacctacacattgtgaggctaaccctgacctgatctttgaa
gatatggaagttatgacagacttcgaactacatgtactttgtaaacagtaccgacacatt
aataactttcagttagacatggacttgattttagattctggaaaatttcgagttttagga
tgcatcttgtctgaattgaaacagaagggtgatagagttgtgttatttagccaatttacc
atgatgctggatatcttagaggttctattaaaacatcatcagcataggtacctcagatta
gatggaaagactcagatttctgaaaggattcatctaattgatgagtttaataccgatatg
gatatctttgtgtttctgctatcaacaaaagctggtggattaggaataaatctgacttca
gcaaatgttgttatacttcacgatattgactgtaatccttataatgacaaacaagcagaa
gatagatgccatagagtaggccagactaaagaagtactagttataaaactaataagccaa
gggacgattgaagaatccatgctaaaaattaaccaacagaaattgaaactagaacaggat
atgactacagtagatgaaggtgatgaagggagtatgccagcagatatagccacattacta
aaaacatcaatgggcctgtga

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