Homo sapiens (human): 56916
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
SNF2-rel_dom
Helicase_C
ResIII
ERCC3_RAD25_C
DEAD
CUE
Pox_D5
Motif
Other DBs
NCBI-GeneID:
56916
NCBI-ProteinID:
NP_064544
OMIM:
612761
HGNC:
18398
Ensembl:
ENSG00000163104
Vega:
OTTHUMG00000130971
Pharos:
Q9H4L7
(Tbio)
UniProt:
Q9H4L7
Structure
PDB
LinkDB
All DBs
Position
4:94207608..94291292
Genome browser
AA seq
1026 aa
AA seq
DB search
MNLFNLDRFRFEKRNKIEEAPEATPQPSQPGPSSPISLSAEEENAEGEVSRANTPDSDIT
EKTEDSSVPETPDNERKASISYFKNQRGIQYIDLSSDSEDVVSPNCSNTVQEKTFNKDTV
IIVSEPSEDEESQGLPTMARRNDDISELEDLSELEDLKDAKLQTLKELFPQRSDNDLLKL
IESTSTMDGAIAAALLMFGDAGGGPRKRKLSSSSEPYEEDEFNDDQSIKKTRLDHGEESN
ESAESSSNWEKQESIVLKLQKEFPNFDKQELREVLKEHEWMYTEALESLKVFAEDQDMQY
VSQSEVPNGKEVSSRSQNYPKNATKTKLKQKFSMKAQNGFNKKRKKNVFNPKRVVEDSEY
DSGSDVGSSLDEDYSSGEEVMEDGYKGKILHFLQDASIGELTLIPQCSQKKAQKITELRP
FNSWEALFTKMSKTNGLSEDLIWHCKTLIQERDVVIRLMNKCEDISNKLTKQVTMLTGNG
GGWNIEQPSILNQSLSLKPYQKVGLNWLALVHKHGLNGILADEMGLGKTIQAIAFLAYLY
QEGNNGPHLIVVPASTIDNWLREVNLWCPTLKVLCYYGSQEERKQIRFNIHSRYEDYNVI
VTTYNCAISSSDDRSLFRRLKLNYAIFDEGHMLKNMGSIRYQHLMTINANNRLLLTGTPV
QNNLLELMSLLNFVMPHMFSSSTSEIRRMFSSKTKSADEQSIYEKERIAHAKQIIKPFIL
RRVKEEVLKQLPPKKDRIELCAMSEKQEQLYLGLFNRLKKSINNLEKNTEMCNVMMQLRK
MANHPLLHRQYYTAEKLKEMSQLMLKEPTHCEANPDLIFEDMEVMTDFELHVLCKQYRHI
NNFQLDMDLILDSGKFRVLGCILSELKQKGDRVVLFSQFTMMLDILEVLLKHHQHRYLRL
DGKTQISERIHLIDEFNTDMDIFVFLLSTKAGGLGINLTSANVVILHDIDCNPYNDKQAE
DRCHRVGQTKEVLVIKLISQGTIEESMLKINQQKLKLEQDMTTVDEGDEGSMPADIATLL
KTSMGL
NT seq
3081 nt
NT seq
+upstream
nt +downstream
nt
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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