Homo sapiens (human): 50485
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Entry
50485 CDS
T01001
Symbol
SMARCAL1, HARP, HHARP
Name
(RefSeq) SNF2 related chromatin remodeling annealing helicase 1
KO
K14440
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 [EC:5.6.2.-]
Organism
hsa
Homo sapiens (human)
Disease
H00580
Schimke immunoosseous dysplasia
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09182 Protein families: genetic information processing
03036 Chromosome and associated proteins [BR:
hsa03036
]
50485 (SMARCAL1)
Chromosome and associated proteins [BR:
hsa03036
]
Eukaryotic type
Chromatin remodeling factors
Other chromatin remodeling factors
50485 (SMARCAL1)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
HARP
SNF2-rel_dom
Helicase_C
ResIII
Flavi_DEAD
ERCC3_RAD25_C
DUF6615
Motif
Other DBs
NCBI-GeneID:
50485
NCBI-ProteinID:
NP_001120679
OMIM:
606622
HGNC:
11102
Ensembl:
ENSG00000138375
UniProt:
Q9NZC9
Structure
PDB
PDBj
LinkDB
All DBs
Position
2:216412484..216483053
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AA seq
954 aa
AA seq
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MSLPLTEEQRKKIEENRQKALARRAEKLLAEQHQRTSSGTSIAGNPFQAKQGPSQNFPRE
SCKPVSHGVIFKQQNLSSSSNADQRPHDSHSFQAKGIWKKPEEMPTACPGHSPRSQMALT
GISPPLAQSPPEVPKQQLLSYELGQGHAQASPEIRFTPFANPTHKPLAKPKSSQETPAHS
SGQPPRDAKLEAKTAKASPSGQNISYIHSSSESVTPRTEGRLQQKSGSSVQKGVNSQKGK
CVRNGDRFQVLIGYNAELIAVFKTLPSKNYDPDTKTWNFSMNDYSALMKAAQSLPTVNLQ
PLEWAYGSSESPSTSSEGQAGLPSAPSLSFVKGRCMLISRAYFEADISYSQDLIALFKQM
DSRRYDVKTRKWSFLLEEHSKLIAKVRCLPQVQLDPLPTTLTLAFASQLKKTSLSLTPDV
PEADLSEVDPKLVSNLMPFQRAGVNFAIAKGGRLLLADDMGLGKTIQAICIAAFYRKEWP
LLVVVPSSVRFTWEQAFLRWLPSLSPDCINVVVTGKDRLTAGLINIVSFDLLSKLEKQLK
TPFKVVIIDESHFLKNSRTARCRAAMPVLKVAKRVILLSGTPAMSRPAELYTQIIAVKPT
FFPQFHAFGLRYCDAKRMPWGWDYSGSSNLGELKLLLEEAVMLRRLKSDVLSQLPAKQRK
IVVIAPGRINARTRAALDAAAKEMTTKDKTKQQQKDALILFFNRTAEAKIPSVIEYILDL
LESGREKFLVFAHHKVVLDAITQELERKHVQHIRIDGSTSSAEREDLCQQFQLSERHAVA
VLSITAANMGLTFSSADLVVFAELFWNPGVLIQAEDRVHRIGQTSSVGIHYLVAKGTADD
YLWPLIQEKIKVLAEAGLSETNFSEMTESTDYLYKDPKQQKIYDLFQKSFEKEGSDMELL
EAAESFDPGSASGTSGSSSQNMGDTLDESSLTASPQKKRRFEFFDNWDSFTSPL
NT seq
2865 nt
NT seq
+upstream
nt +downstream
nt
atgtccttgcctcttacagaggagcagaggaaaaagattgaagagaatcgacaaaaggct
ctggcccgcagagctgagaagttattggcagaacagcatcagaggactagctcgggcacc
tccattgctggcaacccattccaggccaagcaaggcccatcccaaaatttcccaagggag
tcttgtaagccagtgagccatggtgtcattttcaagcaacagaatctcagtagctcatct
aatgctgaccaaagacctcatgattcccacagttttcaggcaaagggaatatggaaaaag
ccagaagaaatgcccacagcctgcccaggccacagtccacgtagtcaaatggctctcact
ggaatctctcctcccttggcacaaagtcctccagaggtccctaaacaacagctcttgagt
tatgagttaggtcaaggtcatgctcaggcttcacctgagatcaggttcacaccctttgct
aacccaactcataagcctctggccaaaccaaagagttcccaagagacaccagctcattcc
tctggacagcctcccagggatgctaagttagaggccaagacagcaaaagcctccccttcg
gggcagaacatttcttacatccattctagctcagagagtgtaacgcccaggacagaagga
agactccagcagaagtcagggtcctcagtccaaaaaggagtgaactctcagaagggaaag
tgcgtaaggaacggcgatcgtttccaggtgttgattgggtacaatgcggaactcattgca
gtgtttaagaccctgcccagcaagaattatgatcctgacaccaagacgtggaacttcagc
atgaatgactatagtgccctgatgaaagcagcccagagcctccccacggtcaacctgcag
cctctggaatgggcctatggcagcagcgagtcaccctccaccagcagtgagggacaggcc
ggccttccatcagctccatccctttcatttgtcaaagggcgatgcatgctcatctccagg
gcctacttcgaggcagacatcagttattcacaggaccttattgcgctttttaaacagatg
gattccagaagatatgatgtcaagaccaggaagtggagctttctcttggaagagcacagt
aaactaattgcaaaggtgcgctgcctcccacaagttcagctggaccctctgcccacgact
ctcaccctggcgtttgcttctcagctcaagaagacatctctcagtctcacgccagatgtc
ccagaggcagacctttctgaagtggaccccaagctcgtgtctaatctgatgccctttcag
agagctggagtcaattttgccatagccaaaggaggccgcctgctgctcgctgacgacatg
ggcctggggaagaccatccaagccatctgcatcgcagccttttaccggaaggagtggccg
ctcctggtggtggtgccatcctccgtgcgcttcacctgggagcaggccttccttcggtgg
ctgccatctctgagcccagattgcatcaacgtcgtggtgactgggaaggaccgcctgaca
gctggcctgatcaacattgtcagctttgaccttcttagcaagttggaaaaacagctaaaa
accccttttaaagttgtcatcattgatgaatctcacttcctcaaaaacagtaggactgcc
cgctgtcgagcagctatgccggtcctaaaggttgccaagagggtgatcctgttgtcgggc
acaccagccatgtcccggcccgcagagctctacacgcagatcatcgcagtcaagccaact
ttcttcccccagtttcatgcctttggacttcgctactgtgatgccaaacggatgccttgg
gggtgggactactcaggttcctccaacctgggagagctgaagctcctgctggaggaagca
gtcatgctgcggcgcctcaagtccgacgtcctttcccagctgcctgccaagcagcgcaag
atagtggtgattgccccaggacggatcaatgccaggaccagagctgccctggatgctgca
gccaaggaaatgaccaccaaggacaaaactaaacagcagcagaaagatgccctcattctc
ttcttcaacagaacagctgaagctaaaatcccatctgtcattgaatatatcttggaccta
ctggaaagtggaagagagaagtttttagtatttgcacaccataaggtggtcctggacgca
attacgcaagagcttgagagaaagcacgtgcagcacatccgcatcgatggctccacctca
tcagctgagcgggaggacctgtgccagcagttccaactgtcggagaggcatgctgtggcc
gtgctgtccatcaccgctgccaatatgggcctcaccttctcctcggctgacctggtggtg
tttgctgagctgttttggaacccaggggtgctgatccaggctgaggaccgcgtgcaccgc
attggacagaccagctccgtgggcattcactacctcgtggcaaagggcacagctgatgac
tacctttggcccctgattcaagagaagattaaagttctggcagaagccgggctttctgag
accaatttttcagaaatgacagaatccactgattacctctacaaggacccaaagcagcag
aagatctacgacctattccagaagtcctttgagaaagaaggaagtgatatggagctcctg
gaagcagcagagtcctttgacccaggaagtgcttcaggaacatctggaagtagttcccag
aacatgggagacaccctggatgaaagctcattgacagccagtccacagaagaaaaggaga
tttgaattttttgataactgggacagctttacgtctcccctgtaa
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