KEGG   Homo sapiens (human): 79753
Entry
79753             CDS       T01001                                 
Symbol
SNIP1, NEDHCS, PML1, PMRED
Name
(RefSeq) Smad nuclear interacting protein 1
  KO
K13108  smad nuclear-interacting protein 1
Organism
hsa  Homo sapiens (human)
Disease
H02397  Neurodevelopmental disorder with movement abnormalities or hypotonia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03041 Spliceosome [BR:hsa03041]
    79753 (SNIP1)
Spliceosome [BR:hsa03041]
 Complex B
  Other components
   RES complex
    79753 (SNIP1)
 Complex C
    79753 (SNIP1)
SSDB
Motif
Pfam: FHA Yop-YscD_cpl
Other DBs
NCBI-GeneID: 79753
NCBI-ProteinID: NP_078976
OMIM: 608241
HGNC: 30587
Ensembl: ENSG00000163877
Pharos: Q8TAD8(Tbio)
UniProt: Q8TAD8 B1AK66
Structure
Position
1:complement(37534449..37554293)
AA seq 396 aa
MKAVKSERERGSRRRHRDGDVVLPAGVVVKQERLSPEVAPPAHRRPDHSGGSPSPPTSEP
ARSGHRGNRARGVSRSPPKKKNKASGRRSKSPRSKRNRSPHHSTVKVKQEREDHPRRGRE
DRQHREPSEQEHRRARNSDRDRHRGHSHQRRTSNERPGSGQGQGRDRDTQNLQAQEEERE
FYNARRREHRQRNDVGGGGSESQELVPRPGGNNKEKEVPAKEKPSFELSGALLEDTNTFR
GVVIKYSEPPEARIPKKRWRLYPFKNDEVLPVMYIHRQSAYLLGRHRRIADIPIDHPSCS
KQHAVFQYRLVEYTRADGTVGRRVKPYIIDLGSGNGTFLNNKRIEPQRYYELKEKDVLKF
GFSSREYVLLHESSDTSEIDRKDDEDEEEEEEVSDS
NT seq 1191 nt   +upstreamnt  +downstreamnt
atgaaggcggtgaagagcgaacgggagcgagggagccggcgaagacaccgggacggggac
gtggtgctgccggcgggggtggtggtgaagcaggagcgtctcagcccagaagtcgcacct
cccgcccaccgccgtccggaccactccggtggtagcccgtctccgccgaccagcgagccg
gcccgctcgggccaccgcgggaaccgagcccgaggagttagccggtccccacccaaaaag
aaaaacaaggcctcagggagaagaagcaagtctcctcgcagtaagagaaaccgaagtcct
caccactcaacagtcaaagtgaagcaggagcgtgaggatcatccccggagaggacgggag
gatcggcagcacagggaaccatcagaacaggaacacaggagagctaggaacagtgaccgg
gacagacaccggggccattcccaccaaaggagaacgtctaacgagaggcctgggagtggg
cagggtcagggacgggatcgagacactcagaacctgcaggctcaggaagaagagcgggag
ttttataatgccaggcgacgggagcatcgccagaggaatgacgttggtggtggcggcagt
gagtctcaggagttggttcctcggcctggtggcaacaacaaagaaaaagaggtgcccgct
aaagaaaaaccaagctttgaactttctggggcacttcttgaggacaccaacactttccgg
ggtgtagtcattaaatatagtgagcccccagaagcacgtatccccaaaaaacggtggcgt
ctctacccatttaaaaatgatgaggtgcttccagtcatgtacatacatcgacagagtgcg
tacctactgggtcgacaccgccgcattgcagacattccaattgatcacccgtcttgttca
aagcagcatgcggtctttcaatatcggcttgtggaatatacccgtgctgatggcacagtt
ggccgaagagtgaagccctacatcattgaccttggctcaggcaatggaaccttcttaaac
aacaaacgtattgagccacagagatactatgaactaaaagaaaaggatgtactcaaattt
ggattcagtagcagagaatacgtcttgctccatgagtcgtcggacacttctgaaatagac
aggaaagatgacgaggatgaggaggaggaggaagaagtgtctgacagctag

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