DEAF1
entrez
10522
canonical
uniprot
O75398
canonical
ensembl
ENSG00000177030
resolver
ensp
ENSP00000371846
resolver
ensp
ENSP00000507198
resolver
ensp
ENSP00000509089
resolver
ensp
ENSP00000587865
resolver
ensp
ENSP00000707215
resolver
ensp
ENSP00000707219
resolver
ensp
ENSP00000758008
resolver
enst
ENST00000683307
resolver
genesymbol
DEAF1
resolver
genesymbol_syn
SPN
resolver
genesymbol_syn
ZMYND5
resolver
hgnc
HGNC:14677
resolver
uniprot
A0A804HIS1
resolver
uniprot
A8K1F8
resolver
uniprot
A8K5R8
resolver
uniprot
C7T5V5
resolver
uniprot
O15152
resolver
uniprot
O75399
resolver
uniprot
O75510
resolver
uniprot
O75511
resolver
uniprot
O75512
resolver
uniprot
O75513
resolver
uniprot
Q9UET1
resolver
uniprot_entry
A0A804HIS1_HUMAN
resolver
uniprot_entry
DEAF1_HUMAN
resolver
uniprot_sec
A8K1F8
resolver
uniprot_sec
A8K5R8
resolver
uniprot_sec
C7T5V5
resolver
uniprot_sec
O15152
resolver
uniprot_sec
O75399
resolver
uniprot_sec
O75510
resolver
uniprot_sec
O75511
resolver
uniprot_sec
O75512
resolver
uniprot_sec
O75513
resolver
uniprot_sec
Q9UET1
resolver
amino_acid_sequence
MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGGEAEEPVLSRDEDSEEDADSEAERETPRVTAVAVMAAEPGHMDMGAEALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVETTGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGGRGRCIKQGENWYSPTEFEAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPKNITLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDSCQIAPFPEAALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHASTYREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKDWKDHQHICGQSAAVTVQADEVHVAESVMEKVTV
uniprot
proteins
disease_involvement
DISEASE: Vulto-van Silfout-de Vries syndrome (VSVS) [MIM:615828]: An autosomal dominant disorder characterized by intellectual disability, poor speech, motor delay, and autistic features. Most patients have additional non-specific features, including hypotonia and gait abnormalities, seizures, which may be refractory, high pain threshold, and sleep disturbances. {ECO:0000269|PubMed:21076407, ECO:0000269|PubMed:24726472}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures (NEDHELS) [MIM:617171]: An autosomal recessive disorder characterized by psychomotor delay, epilepsy, intellectual disability, speech impairment and dyskinesia of the limbs. Patients also manifest autistic features and other behavioral abnormalities. {ECO:0000269|PubMed:26048982}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor that binds to sequence with multiple copies of 5'-TTC[CG]G-3' present in its own promoter and that of the HNRPA2B1 gene. Down-regulates transcription of these genes. Binds to the retinoic acid response element (RARE) 5'-AGGGTTCACCGAAAGTTCA-3'. Activates the proenkephalin gene independently of promoter binding, probably through protein-protein interaction. When secreted, behaves as an inhibitor of cell proliferation, by arresting cells in the G0 or G1 phase. Required for neural tube closure and skeletal patterning. Regulates epithelial cell proliferation and side-branching in the mammary gland. Controls the expression of peripheral tissue antigens in pancreatic lymph nodes. Isoform 1 displays greater transcriptional activity than isoform 4. Isoform 4 may inhibit transcriptional activity of isoform 1 by interacting with isoform 1 and retaining it in the cytoplasm. Transcriptional activator of EIF4G3. {ECO:0000269|PubMed:10521432, ECO:0000269|PubMed:11427895, ECO:0000269|PubMed:11705868, ECO:0000269|PubMed:18826651, ECO:0000269|PubMed:19668219, ECO:0000269|PubMed:24726472}.
uniprot
proteins
mass_dalton
59327
uniprot
proteins
mutagenesis
MUTAGEN 215; /note="Y->Q: Reduces transcription activation."; /evidence="ECO:0000269|PubMed:11427895"; MUTAGEN 226; /note="R->A: Reduces transcription activation."; /evidence="ECO:0000269|PubMed:11427895"; MUTAGEN 246; /note="R->A: Reduces transcription activation."; /evidence="ECO:0000269|PubMed:11427895"; MUTAGEN 250; /note="K->A: Abolishes DNA-binding. Loss of DEAF1-promoter repression; when associated with A-253. Loss of transcriptional activation of EIF4G3; when associated with A-253. Loss of interaction with XRCC6; when associated with A-253. Loss of DNA binding; when associated with A-253."; /evidence="ECO:0000269|PubMed:11427895, ECO:0000269|PubMed:24726472"; MUTAGEN 252; /note="W->Q: Abolishes DNA-binding."; /evidence="ECO:0000269|PubMed:11427895"; MUTAGEN 253; /note="K->A: Abolishes DNA-binding. oss of DEAF1-promoter repression; when associated with A-250. Loss of transcriptional activation of EIF4G3; when associated with A-250. Loss of interaction with XRCC6; when associated with A-250. Loss of DNA binding; when associated with A-250."; /evidence="ECO:0000269|PubMed:11427895, ECO:0000269|PubMed:24726472"; MUTAGEN 302; /note="R->T: Abolishes nuclear localization."; /evidence="ECO:0000269|PubMed:9773984"; MUTAGEN 304; /note="K->T: Abolishes nuclear localization."; /evidence="ECO:0000269|PubMed:9773984"; MUTAGEN 538; /note="H->S: No effect on folding of MYND-type zinc finger."; /evidence="ECO:0000269|PubMed:23372760
uniprot
proteins
post_translational_modification
PTM: May be phosphorylated by DNA-PK complex in a DNA independent manner (in vitro). {ECO:0000269|PubMed:22442688}.
uniprot
proteins
pubmed
10521432
uniprot
proteins
pubmed
11427895
uniprot
proteins
pubmed
11705868
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16527309
uniprot
proteins
pubmed
18286714
uniprot
proteins
pubmed
18826651
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19668219
uniprot
proteins
pubmed
21076407
uniprot
proteins
pubmed
22442688
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23372760
uniprot
proteins
pubmed
24668509
uniprot
proteins
pubmed
24726472
uniprot
proteins
pubmed
26048982
uniprot
proteins
pubmed
9773984
uniprot
proteins
sequence_length
565
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Nucleus. Cytoplasm. Note=Cytoplasmic in non-mucinous colorectal carcinoma. When expressed alone, localized almost exclusively in the nucleus but, when expressed with isoform 4, nuclear expression decreases to 32% and cytoplasmic expression increases by 270%.; SUBCELLULAR LOCATION: [Isoform 2]: Secreted. Note=Secreted in some cell types.; SUBCELLULAR LOCATION: [Isoform 3]: Secreted. Note=Secreted in some cell types.; SUBCELLULAR LOCATION: [Isoform 4]: Cytoplasm. Nucleus. Note=When expressed alone, localizes mainly in the cytoplasm but, when expressed with isoform 1, nuclear localization is enhanced.
uniprot
proteins