KEGG   Homo sapiens (human): 10522
Entry
10522             CDS       T01001                                 
Symbol
DEAF1, MRD24, NEDHELS, NUDR, SPN, VSVS, ZMYND5
Name
(RefSeq) DEAF1 transcription factor
  KO
K23041  deformed epidermal autoregulatory factor 1
Organism
hsa  Homo sapiens (human)
Disease
H00773  Autosomal dominant intellectual developmental disorder
H02397  Neurodevelopmental disorder with movement abnormalities or hypotonia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    10522 (DEAF1)
   03019 Messenger RNA biogenesis [BR:hsa03019]
    10522 (DEAF1)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  beta-Scaffold factors with minor groove contacts
   SAND domain-containing proteins
    10522 (DEAF1)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Transport factors
    eIF4F and regulatory proteins
     10522 (DEAF1)
SSDB
Motif
Pfam: SAND zf-MYND DUF5649
Other DBs
NCBI-GeneID: 10522
NCBI-ProteinID: NP_066288
OMIM: 602635
HGNC: 14677
Ensembl: ENSG00000177030
UniProt: O75398
Structure
Position
11:complement(644220..707083)
AA seq 565 aa
MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGGEAEEPVLSRDEDSEEDADSEAERET
PRVTAVAVMAAEPGHMDMGAEALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVAN
AASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVETTGLKGPAAPLTPGPQSPPTP
LAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGGRGRCIKQGENWYSPTEF
EAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPY
KRRKKENELPTTPVKKDSPKNITLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAV
ISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDSCQIAPFPEAALPTSHPKIVL
TSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHA
STYREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKDWKDHQHIC
GQSAAVTVQADEVHVAESVMEKVTV
NT seq 1698 nt   +upstreamnt  +downstreamnt
atggaggactcggactcggcggcaaagcagctgggcctggctgaggcggcggcggtggcg
gccgcggccgctgtggcggcggcggccgcggccgcggcaggaggcgaggcggaggagccg
gtgctgagcagggacgaggactcggaggaggacgcagactcggaggcggagcgggagacg
ccgcgggtcacggcagtggcggtgatggcggcggagcccgggcacatggacatgggcgcc
gaggccctgcccggccccgacgaggccgccgctgccgcagccttcgcagaggtgaccaca
gtgacagtggccaacgtgggggctgctgcagacaatgtcttcaccacgtctgtggcgaac
gcggcatccatctcaggacatgttctgtctggtaggacggcccttcagatcggggacagc
ctgaacaccgaaaaagcgacactgattgtcgtccacacagatgggagcatcgtggagacc
accgggctgaaaggcccggcagctcccctcaccccaggtcctcagtctcctccaacccct
ctggctcccggccaagaaaaaggtggaactaaatacaactgggacccttctgtgtacgac
agtgagctgcccgtacggtgccggaacatcagcggcactctgtacaagaacaggctcggc
tcaggcggccggggacggtgcatcaagcagggggagaactggtacagtcccaccgagttt
gaggccatggcaggaagagccagcagtaaggactggaaaagaagcattcgctacgcgggc
cgacccttgcagtgcctcatccaggatgggatcttaaaccctcacgctgcctcttgcacc
tgtgctgcctgctgcgacgacatgaccttaagtggcccagtcaggctttttgtgccttac
aaaaggcgcaagaaggagaatgaactgcccacaactcccgtgaagaaggactcccccaag
aacatcacattgcttccagccaccgcggctaccaccttcaccgtgaccccctcgggacag
atcacgacctcgggggcactgacctttgaccgagcgtccacggtagaggccactgctgtc
atatcagagagtccggcccagggcgacgtcttcgcaggggccacagtccaagaggccagc
gtgcagcccccatgcagggccagccaccctgagcctcactaccccggctatcaggacagc
tgccagatcgcaccgtttccagaagctgcgttgccaacgtcacatcccaaaatagtgttg
acatccctgcctgcgctggcggtcccacccccgactcccaccaaagcggcacctcccgcg
ttggtcaatgggctggagctgtcagagccgcggagctggctgtacctagaagagatggtc
aactccttgctcaacacagcgcagcagctgaagacgctgtttgagcaagccaagcatgcc
agcacctaccgagaagctgccacaaaccaggccaagatccacgctgacgcagagcggaag
gagcagtcctgcgttaactgcggccgggaggctatgagcgagtgcaccggctgccacaag
gtcaactactgctccaccttctgccaacgcaaggactggaaggatcaccagcacatatgc
ggccagtcagcagctgtcaccgtccaggcagacgaagtccacgtggctgaaagcgtgatg
gagaaggtgaccgtgtga

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Ontology (3)   
   KEGG BRITE (3)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (13)   
   KEGG ORTHOLOGY (1)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (15)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (13)   
DNA sequence (57)   
   RefSeq(nuc) (17)   
   GenBank (20)   
   EMBL (20)   
3D Structure (3)   
   PDB (3)   
Protein domain (3)   
   Pfam (3)   
All databases (100)   

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