| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 50485 |
Name | SMARCAL1 |
Synonym | HARP|HHARP;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1;SMARCAL1;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 |
Definition | ATP-driven annealing helicase|HepA-related protein|SMARCA-like protein 1|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1|sucrose nonfermenting protein 2-like 1 |
Position | 2q35 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | Wnt signaling pathway;PANTHER;P00057 |
Disease | Schimke immunoosseous dysplasia;OMIM |
External Links | |
Links to Entrez Gene | 50485 |
Links to all GeneRIF Items | 50485 |
Links to iHOP | 50485 |
Sequence Information | |
Nucleotide Sequence | >50485 : length: 2865 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 |
Protein Sequence | >50485 : length: 954 MSLPLTEEQRKKIEENRQKALARRAEKLLAEQHQRTSSGTSIAGNPFQAKQGPSQNFPRE SCKPVSHGVIFKQQNLSSSSNADQRPHDSHSFQAKGIWKKPEEMPTACPGHSPRSQMALT GISPPLAQSPPEVPKQQLLSYELGQGHAQASPEIRFTPFANPTHKPLAKPKSSQETPAHS SGQPPRDAKLEAKTAKASPSGQNISYIHSSSESVTPRTEGRLQQKSGSSVQKGVNSQKGK CVRNGDRFQVLIGYNAELIAVFKTLPSKNYDPDTKTWNFSMNDYSALMKAAQSLPTVNLQ PLEWAYGSSESPSTSSEGQAGLPSAPSLSFVKGRCMLISRAYFEADISYSQDLIALFKQM DSRRYDVKTRKWSFLLEEHSKLIAKVRCLPQVQLDPLPTTLTLAFASQLKKTSLSLTPDV PEADLSEVDPKLVSNLMPFQRAGVNFAIAKGGRLLLADDMGLGKTIQAICIAAFYRKEWP LLVVVPSSVRFTWEQAFLRWLPSLSPDCINVVVTGKDRLTAGLINIVSFDLLSKLEKQLK TPFKVVIIDESHFLKNSRTARCRAAMPVLKVAKRVILLSGTPAMSRPAELYTQIIAVKPT FFPQFHAFGLRYCDAKRMPWGWDYSGSSNLGELKLLLEEAVMLRRLKSDVLSQLPAKQRK IVVIAPGRINARTRAALDAAAKEMTTKDKTKQQQKDALILFFNRTAEAKIPSVIEYILDL LESGREKFLVFAHHKVVLDAITQELERKHVQHIRIDGSTSSAEREDLCQQFQLSERHAVA VLSITAANMGLTFSSADLVVFAELFWNPGVLIQAEDRVHRIGQTSSVGIHYLVAKGTADD YLWPLIQEKIKVLAEAGLSETNFSEMTESTDYLYKDPKQQKIYDLFQKSFEKEGSDMELL EAAESFDPGSASGTSGSSSQNMGDTLDESSLTASPQKKRRFEFFDNWDSFTSPL |