KEGG   Homo sapiens (human): 50485
Entry
50485             CDS       T01001                                 
Symbol
SMARCAL1, HARP, HHARP
Name
(RefSeq) SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 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)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.6  Isomerases altering macromolecular conformation
   5.6.2  Enzymes altering nucleic acid conformation
    5.6.2.-
     50485 (SMARCAL1)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Chromatin remodeling factors
   Other chromatin remodeling factors
    50485 (SMARCAL1)
SSDB
Motif
Pfam: HARP SNF2-rel_dom Helicase_C ResIII Flavi_DEAD ERCC3_RAD25_C
Other DBs
NCBI-GeneID: 50485
NCBI-ProteinID: NP_001120679
OMIM: 606622
HGNC: 11102
Ensembl: ENSG00000138375
UniProt: Q9NZC9
Structure
Position
2:216412484..216483053
AA seq 954 aa
MSLPLTEEQRKKIEENRQKALARRAEKLLAEQHQRTSSGTSIAGNPFQAKQGPSQNFPRE
SCKPVSHGVIFKQQNLSSSSNADQRPHDSHSFQAKGIWKKPEEMPTACPGHSPRSQMALT
GISPPLAQSPPEVPKQQLLSYELGQGHAQASPEIRFTPFANPTHKPLAKPKSSQETPAHS
SGQPPRDAKLEAKTAKASPSGQNISYIHSSSESVTPRTEGRLQQKSGSSVQKGVNSQKGK
CVRNGDRFQVLIGYNAELIAVFKTLPSKNYDPDTKTWNFSMNDYSALMKAAQSLPTVNLQ
PLEWAYGSSESPSTSSEGQAGLPSAPSLSFVKGRCMLISRAYFEADISYSQDLIALFKQM
DSRRYDVKTRKWSFLLEEHSKLIAKVRCLPQVQLDPLPTTLTLAFASQLKKTSLSLTPDV
PEADLSEVDPKLVSNLMPFQRAGVNFAIAKGGRLLLADDMGLGKTIQAICIAAFYRKEWP
LLVVVPSSVRFTWEQAFLRWLPSLSPDCINVVVTGKDRLTAGLINIVSFDLLSKLEKQLK
TPFKVVIIDESHFLKNSRTARCRAAMPVLKVAKRVILLSGTPAMSRPAELYTQIIAVKPT
FFPQFHAFGLRYCDAKRMPWGWDYSGSSNLGELKLLLEEAVMLRRLKSDVLSQLPAKQRK
IVVIAPGRINARTRAALDAAAKEMTTKDKTKQQQKDALILFFNRTAEAKIPSVIEYILDL
LESGREKFLVFAHHKVVLDAITQELERKHVQHIRIDGSTSSAEREDLCQQFQLSERHAVA
VLSITAANMGLTFSSADLVVFAELFWNPGVLIQAEDRVHRIGQTSSVGIHYLVAKGTADD
YLWPLIQEKIKVLAEAGLSETNFSEMTESTDYLYKDPKQQKIYDLFQKSFEKEGSDMELL
EAAESFDPGSASGTSGSSSQNMGDTLDESSLTASPQKKRRFEFFDNWDSFTSPL
NT seq 2865 nt   +upstreamnt  +downstreamnt
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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Ontology (3)   
   KEGG BRITE (3)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (17)   
   KEGG ORTHOLOGY (1)   
   RefGene (9)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (26)   
   RefSeq(nuc) (2)   
   GenBank (12)   
   EMBL (12)   
3D Structure (1)   
   PDB (1)   
Protein domain (6)   
   Pfam (6)   
All databases (61)   

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