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)
Pathway
hsa03040  Spliceosome
Network
nt06547  Spliceosome
  Element
N01971  spliceosome activation
N01972  Spliceosome catalysis (branching)
Disease
H03019  Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09121 Transcription
   03040 Spliceosome
    79753 (SNIP1)
 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
UniProt: Q8TAD8 B1AK66
Structure
LinkDB
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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