UniProtKB - O75398 (DEAF1_HUMAN)
Deformed epidermal autoregulatory factor 1 homolog
DEAF1
Functioni
Miscellaneous
Caution
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 504 – 540 | MYND-typePROSITE-ProRule annotationAdd BLAST | 37 |
GO - Molecular functioni
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- DNA-binding transcription repressor activity, RNA polymerase II-specific Source: NTNU_SB
- metal ion binding Source: UniProtKB-KW
- RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: NTNU_SB
GO - Biological processi
- anatomical structure morphogenesis Source: ProtInc
- embryonic skeletal system development Source: UniProtKB
- germ cell development Source: ProtInc
- negative regulation of transcription, DNA-templated Source: UniProtKB
- negative regulation of transcription by RNA polymerase II Source: NTNU_SB
- neural tube closure Source: UniProtKB
- positive regulation of transcription, DNA-templated Source: UniProtKB
- regulation of mammary gland epithelial cell proliferation Source: UniProtKB
- regulation of transcription by RNA polymerase II Source: GO_Central
- transcription by RNA polymerase II Source: ProtInc
Keywordsi
Molecular function | Developmental protein, DNA-binding |
Biological process | Neurogenesis, Transcription, Transcription regulation |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | O75398 |
SIGNORi | O75398 |
Names & Taxonomyi
Protein namesi | Recommended name: Deformed epidermal autoregulatory factor 1 homologAlternative name(s): Nuclear DEAF-1-related transcriptional regulator Short name: NUDR Suppressin Zinc finger MYND domain-containing protein 5 |
Gene namesi | Name:DEAF1 Synonyms:SPN, ZMYND5 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:14677, DEAF1 |
MIMi | 602635, gene |
neXtProti | NX_O75398 |
VEuPathDBi | HostDB:ENSG00000177030.16 |
Subcellular locationi
Extracellular region or secreted
Note: Secreted in some cell types.
Extracellular region or secreted
Note: Secreted in some cell types.
Extracellular region or secreted
- extracellular region Source: UniProtKB-SubCell
Nucleus
- fibrillar center Source: HPA
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
Keywords - Cellular componenti
Cytoplasm, Nucleus, SecretedPathology & Biotechi
Involvement in diseasei
Vulto-van Silfout-de Vries syndrome (VSVS)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071371 | 224 | R → W in VSVS; loss of DEAF1-promoter repression; loss of transcriptional activation of EIF4G3; loss of DNA binding; decreased interaction with XRCC6. 1 PublicationCorresponds to variant dbSNP:rs587777408Ensembl. | 1 | |
Natural variantiVAR_065089 | 228 | I → S in VSVS; loss of DEAF1-promoter repression; loss of transcriptional activation of EIF4G3; loss of DNA binding; loss of interaction with XRCC6. 2 PublicationsCorresponds to variant dbSNP:rs587777406Ensembl. | 1 | |
Natural variantiVAR_071373 | 254 | R → S in VSVS; loss of DEAF1-promoter repression; gain of transcriptional activation of EIF4G3; a 9-fold reduction in DNA binding. 1 PublicationCorresponds to variant dbSNP:rs587777409Ensembl. | 1 | |
Natural variantiVAR_071374 | 264 | Q → P in VSVS; loss of DEAF1-promoter repression; loss of transcriptional activation of EIF4G3; loss of DNA binding; loss of interaction with XRCC6. 1 PublicationCorresponds to variant dbSNP:rs587777407EnsemblClinVar. | 1 |
Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures (NEDHELS)1 Publication
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 215 | Y → Q: Reduces transcription activation. 1 Publication | 1 | |
Mutagenesisi | 226 | R → A: Reduces transcription activation. 1 Publication | 1 | |
Mutagenesisi | 246 | R → A: Reduces transcription activation. 1 Publication | 1 | |
Mutagenesisi | 250 | 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. 2 Publications | 1 | |
Mutagenesisi | 252 | W → Q: Abolishes DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 253 | 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. 2 Publications | 1 | |
Mutagenesisi | 302 | R → T: Abolishes nuclear localization. 1 Publication | 1 | |
Mutagenesisi | 304 | K → T: Abolishes nuclear localization. 1 Publication | 1 | |
Mutagenesisi | 538 | H → S: No effect on folding of MYND-type zinc finger. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Epilepsy, Mental retardationOrganism-specific databases
DisGeNETi | 10522 |
MalaCardsi | DEAF1 |
MIMi | 615828, phenotype 617171, phenotype |
OpenTargetsi | ENSG00000177030 |
Orphaneti | 178469, Autosomal dominant non-syndromic intellectual disability 468620, Intellectual disability-epilepsy-extrapyramidal syndrome 819, Smith-Magenis syndrome |
PharmGKBi | PA27234 |
Miscellaneous databases
Pharosi | O75398, Tbio |
Genetic variation databases
BioMutai | DEAF1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000074084 | 1 – 565 | Deformed epidermal autoregulatory factor 1 homologAdd BLAST | 565 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 171 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 176 | PhosphoserineCombined sources | 1 | |
Modified residuei | 179 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 432 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 448 | PhosphoserineBy similarity | 1 |
Post-translational modificationi
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | O75398 |
jPOSTi | O75398 |
MassIVEi | O75398 |
MaxQBi | O75398 |
PaxDbi | O75398 |
PeptideAtlasi | O75398 |
PRIDEi | O75398 |
ProteomicsDBi | 49968 [O75398-1] 49969 [O75398-3] 49970 [O75398-4] 49971 [O75398-5] |
PTM databases
iPTMneti | O75398 |
PhosphoSitePlusi | O75398 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000177030, Expressed in prefrontal cortex and 192 other tissues |
ExpressionAtlasi | O75398, baseline and differential |
Genevisiblei | O75398, HS |
Organism-specific databases
HPAi | ENSG00000177030, Tissue enhanced (brain) |
Interactioni
Subunit structurei
Homodimer. Isoform 1 and isoform 4 may form a heterodimer.
Interacts with LMO2 and CLIM2 (By similarity).
Interacts with LMO4; LMO4 blocks export from nucleus (By similarity). May interact with the corepressors NCOR1 and NCRO2.
Identified in a complex with the XRCC5 and XRCC6 heterodimer.
Interacts (via the SAND domain) with the DNA-PK complex subunit XRCC6; the interaction is direct and may be inhibited by DNA-binding.
By similarity4 PublicationsBinary interactionsi
Hide detailsO75398
Protein-protein interaction databases
BioGRIDi | 115777, 29 interactors |
CORUMi | O75398 |
ELMi | O75398 |
IntActi | O75398, 28 interactors |
MINTi | O75398 |
STRINGi | 9606.ENSP00000371846 |
Miscellaneous databases
RNActi | O75398, protein |
Structurei
Secondary structure
3D structure databases
BMRBi | O75398 |
SMRi | O75398 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | O75398 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 193 – 273 | SANDPROSITE-ProRule annotationAdd BLAST | 81 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 403 – 478 | Interaction with LMO4By similarityAdd BLAST | 76 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 301 – 316 | Nuclear localization signalSequence analysisAdd BLAST | 16 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 2 – 122 | Ala-richAdd BLAST | 121 | |
Compositional biasi | 383 – 439 | Pro-richAdd BLAST | 57 |
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 504 – 540 | MYND-typePROSITE-ProRule annotationAdd BLAST | 37 |
Keywords - Domaini
Zinc-fingerPhylogenomic databases
eggNOGi | KOG4333, Eukaryota |
GeneTreei | ENSGT00940000159701 |
HOGENOMi | CLU_039056_1_0_1 |
InParanoidi | O75398 |
OMAi | NDMKQSY |
OrthoDBi | 662933at2759 |
PhylomeDBi | O75398 |
TreeFami | TF325664 |
Family and domain databases
Gene3Di | 3.10.390.10, 1 hit |
InterProi | View protein in InterPro IPR010919, SAND-like_dom_sf IPR000770, SAND_dom IPR024119, TF_DEAF-1 IPR002893, Znf_MYND |
PANTHERi | PTHR10237, PTHR10237, 1 hit |
Pfami | View protein in Pfam PF01342, SAND, 1 hit PF01753, zf-MYND, 1 hit |
SMARTi | View protein in SMART SM00258, SAND, 1 hit |
SUPFAMi | SSF63763, SSF63763, 1 hit |
PROSITEi | View protein in PROSITE PS50864, SAND, 1 hit PS01360, ZF_MYND_1, 1 hit PS50865, ZF_MYND_2, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MEDSDSAAKQ LGLAEAAAVA AAAAVAAAAA AAAGGEAEEP VLSRDEDSEE
60 70 80 90 100
DADSEAERET PRVTAVAVMA AEPGHMDMGA EALPGPDEAA AAAAFAEVTT
110 120 130 140 150
VTVANVGAAA DNVFTTSVAN AASISGHVLS GRTALQIGDS LNTEKATLIV
160 170 180 190 200
VHTDGSIVET TGLKGPAAPL TPGPQSPPTP LAPGQEKGGT KYNWDPSVYD
210 220 230 240 250
SELPVRCRNI SGTLYKNRLG SGGRGRCIKQ GENWYSPTEF EAMAGRASSK
260 270 280 290 300
DWKRSIRYAG RPLQCLIQDG ILNPHAASCT CAACCDDMTL SGPVRLFVPY
310 320 330 340 350
KRRKKENELP TTPVKKDSPK NITLLPATAA TTFTVTPSGQ ITTSGALTFD
360 370 380 390 400
RASTVEATAV ISESPAQGDV FAGATVQEAS VQPPCRASHP EPHYPGYQDS
410 420 430 440 450
CQIAPFPEAA LPTSHPKIVL TSLPALAVPP PTPTKAAPPA LVNGLELSEP
460 470 480 490 500
RSWLYLEEMV NSLLNTAQQL KTLFEQAKHA STYREAATNQ AKIHADAERK
510 520 530 540 550
EQSCVNCGRE AMSECTGCHK VNYCSTFCQR KDWKDHQHIC GQSAAVTVQA
560
DEVHVAESVM EKVTV
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YCH1 | H0YCH1_HUMAN | Deformed epidermal autoregulatory f... | DEAF1 | 349 | Annotation score: | ||
H0YCY2 | H0YCY2_HUMAN | Deformed epidermal autoregulatory f... | DEAF1 | 86 | Annotation score: | ||
A0A0J9YX80 | A0A0J9YX80_HUMAN | Deformed epidermal autoregulatory f... | DEAF1 | 147 | Annotation score: | ||
A0A0J9YWD6 | A0A0J9YWD6_HUMAN | Deformed epidermal autoregulatory f... | DEAF1 | 161 | Annotation score: | ||
A0A0J9YXA4 | A0A0J9YXA4_HUMAN | Deformed epidermal autoregulatory f... | DEAF1 | 143 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 65 | A → E in ACU88060 (PubMed:19668219).Curated | 1 | |
Sequence conflicti | 72 | E → D in AAB62704 (Ref. 4) Curated | 1 | |
Sequence conflicti | 166 | P → Q in ACU88060 (PubMed:19668219).Curated | 1 | |
Sequence conflicti | 247 | A → T in AAB62704 (Ref. 4) Curated | 1 | |
Sequence conflicti | 294 | V → L in AAB62704 (Ref. 4) Curated | 1 | |
Sequence conflicti | 399 | D → G in ACU88060 (PubMed:19668219).Curated | 1 | |
Sequence conflicti | 522 | N → K in AAB62704 (Ref. 4) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_013725 | 186 | E → V in a primary colorectal cancer. 1 PublicationCorresponds to variant dbSNP:rs751727919Ensembl. | 1 | |
Natural variantiVAR_013726 | 191 | K → I in a primary colorectal cancer. 1 Publication | 1 | |
Natural variantiVAR_013727 | 191 | K → N in a primary colorectal cancer. 1 Publication | 1 | |
Natural variantiVAR_013728 | 199 – 202 | YDSE → CDND in a primary colorectal cancer. | 4 | |
Natural variantiVAR_013729 | 202 | E → D in a primary colorectal cancer. 1 Publication | 1 | |
Natural variantiVAR_013730 | 218 | R → K in a primary colorectal cancer. 1 PublicationCorresponds to variant dbSNP:rs1127312Ensembl. | 1 | |
Natural variantiVAR_071371 | 224 | R → W in VSVS; loss of DEAF1-promoter repression; loss of transcriptional activation of EIF4G3; loss of DNA binding; decreased interaction with XRCC6. 1 PublicationCorresponds to variant dbSNP:rs587777408Ensembl. | 1 | |
Natural variantiVAR_071372 | 226 | R → W1 PublicationCorresponds to variant dbSNP:rs587777623EnsemblClinVar. | 1 | |
Natural variantiVAR_065089 | 228 | I → S in VSVS; loss of DEAF1-promoter repression; loss of transcriptional activation of EIF4G3; loss of DNA binding; loss of interaction with XRCC6. 2 PublicationsCorresponds to variant dbSNP:rs587777406Ensembl. | 1 | |
Natural variantiVAR_071373 | 254 | R → S in VSVS; loss of DEAF1-promoter repression; gain of transcriptional activation of EIF4G3; a 9-fold reduction in DNA binding. 1 PublicationCorresponds to variant dbSNP:rs587777409Ensembl. | 1 | |
Natural variantiVAR_071374 | 264 | Q → P in VSVS; loss of DEAF1-promoter repression; loss of transcriptional activation of EIF4G3; loss of DNA binding; loss of interaction with XRCC6. 1 PublicationCorresponds to variant dbSNP:rs587777407EnsemblClinVar. | 1 | |
Natural variantiVAR_013731 | 350 – 352 | DRA → GQT in a primary colorectal cancer. | 3 | |
Natural variantiVAR_013732 | 356 | E → H in a primary colorectal cancer; requires 2 nucleotide substitutions. 1 Publication | 1 | |
Natural variantiVAR_013733 | 364 | S → N in a primary colorectal cancer. 1 Publication | 1 | |
Natural variantiVAR_013734 | 367 | Q → H in a primary colorectal cancer. 1 Publication | 1 | |
Natural variantiVAR_013735 | 370 | V → L in a primary colorectal cancer. 1 Publication | 1 | |
Natural variantiVAR_013736 | 397 | Y → F in a primary colorectal cancer. 1 Publication | 1 | |
Natural variantiVAR_013737 | 442 | V → A in a primary colorectal cancer. 1 Publication | 1 | |
Natural variantiVAR_013738 | 449 | E → K in a primary colorectal cancer. 1 Publication | 1 | |
Natural variantiVAR_013739 | 451 – 452 | RS → GI in a primary colorectal cancer. | 2 | |
Natural variantiVAR_013740 | 468 | Q → H in a primary colorectal cancer. 1 Publication | 1 | |
Natural variantiVAR_013741 | 479 | H → L in a primary colorectal cancer. 1 Publication | 1 | |
Natural variantiVAR_013742 | 498 | E → K in a primary colorectal cancer. 1 Publication | 1 | |
Natural variantiVAR_013743 | 526 | T → N in a primary colorectal cancer. 1 Publication | 1 | |
Natural variantiVAR_013744 | 530 | R → L in a primary colorectal cancer. 1 Publication | 1 | |
Natural variantiVAR_013745 | 537 – 538 | QH → HL in a primary colorectal cancer. | 2 | |
Natural variantiVAR_013746 | 542 | Q → H in a primary colorectal cancer. 1 Publication | 1 | |
Natural variantiVAR_013747 | 545 | A → G in a primary colorectal cancer. 1 PublicationCorresponds to variant dbSNP:rs34114147EnsemblClinVar. | 1 | |
Natural variantiVAR_013748 | 545 | A → V in a primary colorectal cancer. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_005966 | 1 – 68 | Missing in isoform 3. 3 PublicationsAdd BLAST | 68 | |
Alternative sequenceiVSP_005967 | 15 – 29 | EAAAV…VAAAA → D in isoform 2. 1 PublicationAdd BLAST | 15 | |
Alternative sequenceiVSP_038701 | 223 – 333 | GRGRC…AATTF → WDLKPSRCLLHLCCLLRRHD LI in isoform 4. 1 PublicationAdd BLAST | 111 | |
Alternative sequenceiVSP_038702 | 501 | E → EVIHPPRLPKVLGLQ in isoform 4. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF049459 mRNA Translation: AAC79676.1 AF049460 mRNA Translation: AAC79677.1 AF068893 mRNA Translation: AAC25715.1 AF068894 mRNA Translation: AAC25716.1 AF068895 mRNA Translation: AAC25717.1 AF068896 mRNA Translation: AAC25718.1 Sequence problems. AF068897 mRNA Translation: AAC25719.1 Frameshift. FJ985253 mRNA Translation: ACU88060.1 AF007165 mRNA Translation: AAB62704.1 AK291383 mRNA Translation: BAF84072.1 AK289873 mRNA Translation: BAF82562.1 BC053322 mRNA Translation: AAH53322.1 |
CCDSi | CCDS31327.1 [O75398-1] |
RefSeqi | NP_001280563.1, NM_001293634.1 [O75398-5] NP_066288.2, NM_021008.3 [O75398-1] |
Genome annotation databases
Ensembli | ENST00000382409; ENSP00000371846; ENSG00000177030 [O75398-1] |
GeneIDi | 10522 |
KEGGi | hsa:10522 |
UCSCi | uc001lqq.2, human [O75398-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF049459 mRNA Translation: AAC79676.1 AF049460 mRNA Translation: AAC79677.1 AF068893 mRNA Translation: AAC25715.1 AF068894 mRNA Translation: AAC25716.1 AF068895 mRNA Translation: AAC25717.1 AF068896 mRNA Translation: AAC25718.1 Sequence problems. AF068897 mRNA Translation: AAC25719.1 Frameshift. FJ985253 mRNA Translation: ACU88060.1 AF007165 mRNA Translation: AAB62704.1 AK291383 mRNA Translation: BAF84072.1 AK289873 mRNA Translation: BAF82562.1 BC053322 mRNA Translation: AAH53322.1 |
CCDSi | CCDS31327.1 [O75398-1] |
RefSeqi | NP_001280563.1, NM_001293634.1 [O75398-5] NP_066288.2, NM_021008.3 [O75398-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2JW6 | NMR | - | A | 496-544 | [»] | |
4A24 | NMR | - | A | 501-544 | [»] | |
5UWW | X-ray | 2.15 | D | 452-469 | [»] | |
BMRBi | O75398 | |||||
SMRi | O75398 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 115777, 29 interactors |
CORUMi | O75398 |
ELMi | O75398 |
IntActi | O75398, 28 interactors |
MINTi | O75398 |
STRINGi | 9606.ENSP00000371846 |
PTM databases
iPTMneti | O75398 |
PhosphoSitePlusi | O75398 |
Genetic variation databases
BioMutai | DEAF1 |
Proteomic databases
EPDi | O75398 |
jPOSTi | O75398 |
MassIVEi | O75398 |
MaxQBi | O75398 |
PaxDbi | O75398 |
PeptideAtlasi | O75398 |
PRIDEi | O75398 |
ProteomicsDBi | 49968 [O75398-1] 49969 [O75398-3] 49970 [O75398-4] 49971 [O75398-5] |
Protocols and materials databases
Antibodypediai | 9854, 320 antibodies |
DNASUi | 10522 |
Genome annotation databases
Ensembli | ENST00000382409; ENSP00000371846; ENSG00000177030 [O75398-1] |
GeneIDi | 10522 |
KEGGi | hsa:10522 |
UCSCi | uc001lqq.2, human [O75398-1] |
Organism-specific databases
CTDi | 10522 |
DisGeNETi | 10522 |
GeneCardsi | DEAF1 |
HGNCi | HGNC:14677, DEAF1 |
HPAi | ENSG00000177030, Tissue enhanced (brain) |
MalaCardsi | DEAF1 |
MIMi | 602635, gene 615828, phenotype 617171, phenotype |
neXtProti | NX_O75398 |
OpenTargetsi | ENSG00000177030 |
Orphaneti | 178469, Autosomal dominant non-syndromic intellectual disability 468620, Intellectual disability-epilepsy-extrapyramidal syndrome 819, Smith-Magenis syndrome |
PharmGKBi | PA27234 |
VEuPathDBi | HostDB:ENSG00000177030.16 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4333, Eukaryota |
GeneTreei | ENSGT00940000159701 |
HOGENOMi | CLU_039056_1_0_1 |
InParanoidi | O75398 |
OMAi | NDMKQSY |
OrthoDBi | 662933at2759 |
PhylomeDBi | O75398 |
TreeFami | TF325664 |
Enzyme and pathway databases
PathwayCommonsi | O75398 |
SIGNORi | O75398 |
Miscellaneous databases
BioGRID-ORCSi | 10522, 9 hits in 1016 CRISPR screens |
ChiTaRSi | DEAF1, human |
EvolutionaryTracei | O75398 |
GenomeRNAii | 10522 |
Pharosi | O75398, Tbio |
PROi | PR:O75398 |
RNActi | O75398, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000177030, Expressed in prefrontal cortex and 192 other tissues |
ExpressionAtlasi | O75398, baseline and differential |
Genevisiblei | O75398, HS |
Family and domain databases
Gene3Di | 3.10.390.10, 1 hit |
InterProi | View protein in InterPro IPR010919, SAND-like_dom_sf IPR000770, SAND_dom IPR024119, TF_DEAF-1 IPR002893, Znf_MYND |
PANTHERi | PTHR10237, PTHR10237, 1 hit |
Pfami | View protein in Pfam PF01342, SAND, 1 hit PF01753, zf-MYND, 1 hit |
SMARTi | View protein in SMART SM00258, SAND, 1 hit |
SUPFAMi | SSF63763, SSF63763, 1 hit |
PROSITEi | View protein in PROSITE PS50864, SAND, 1 hit PS01360, ZF_MYND_1, 1 hit PS50865, ZF_MYND_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DEAF1_HUMAN | |
Accessioni | O75398Primary (citable) accession number: O75398 Secondary accession number(s): A8K1F8 Q9UET1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 13, 2002 |
Last sequence update: | November 1, 1998 | |
Last modified: | April 7, 2021 | |
This is version 204 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references