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UniProtKB - O75398 (DEAF1_HUMAN)

Entry version 204 (07 Apr 2021)
Sequence version 1 (01 Nov 1998)
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Protein

Deformed epidermal autoregulatory factor 1 homolog

Gene

DEAF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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 EIF4G3.6 Publications

Miscellaneous

Defective DEAF1 could confer a growth advantage to the mutated cells influencing the development and progression of neoplasia, e.g. in the case of colorectal carcinomas. Subcellular location in colorectal carcinomas (cytoplasmic or nuclear) is a prognostic factor that identifies a subgroup of patients with reduced survival. In addition, changes in the subcellular location correlates with the proliferative status of the cells.

Caution

This protein was first known as suppressin (characterized in bovine neuroendocrine and immune cells). However, according to PubMed:9773984, it is uncertain whether it corresponds really to the suppressin also described in Ref. 4. DEAF1 has been described as a nuclear dimeric protein and suppressin as a secreted monomeric protein.Curated

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri504 – 540MYND-typePROSITE-ProRule annotationAdd BLAST37

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processNeurogenesis, Transcription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O75398

SIGNOR Signaling Network Open Resource

More...SIGNORi		O75398

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Deformed epidermal autoregulatory factor 1 homolog
Alternative name(s):
Nuclear DEAF-1-related transcriptional regulator
Short name:
NUDR
Suppressin
Zinc finger MYND domain-containing protein 5
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DEAF1
Synonyms:SPN, ZMYND5
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:14677, DEAF1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		602635, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O75398

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000177030.16

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cytoplasm, Nucleus, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Vulto-van Silfout-de Vries syndrome (VSVS)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071371224R → 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_065089228I → 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_071373254R → 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_071374264Q → 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
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi215Y → Q: Reduces transcription activation. 1 Publication1
Mutagenesisi226R → A: Reduces transcription activation. 1 Publication1
Mutagenesisi246R → A: Reduces transcription activation. 1 Publication1
Mutagenesisi250K → 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 Publications1
Mutagenesisi252W → Q: Abolishes DNA-binding. 1 Publication1
Mutagenesisi253K → 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 Publications1
Mutagenesisi302R → T: Abolishes nuclear localization. 1 Publication1
Mutagenesisi304K → T: Abolishes nuclear localization. 1 Publication1
Mutagenesisi538H → S: No effect on folding of MYND-type zinc finger. 1 Publication1

Keywords - Diseasei

Disease variant, Epilepsy, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		10522

MalaCards human disease database

More...MalaCardsi		DEAF1
MIMi615828, phenotype
617171, phenotype

Open Targets

More...OpenTargetsi		ENSG00000177030

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		178469, Autosomal dominant non-syndromic intellectual disability
468620, Intellectual disability-epilepsy-extrapyramidal syndrome
819, Smith-Magenis syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27234

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O75398, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		DEAF1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000740841 – 565Deformed epidermal autoregulatory factor 1 homologAdd BLAST565

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei171PhosphothreonineBy similarity1
Modified residuei176PhosphoserineCombined sources1
Modified residuei179PhosphothreonineBy similarity1
Modified residuei432PhosphothreonineCombined sources1
Modified residuei448PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

May be phosphorylated by DNA-PK complex in a DNA independent manner (in vitro).1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O75398

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O75398

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O75398

MaxQB - The MaxQuant DataBase

More...MaxQBi		O75398

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		O75398

PeptideAtlas

More...PeptideAtlasi		O75398

PRoteomics IDEntifications database

More...PRIDEi		O75398

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		49968 [O75398-1]
49969 [O75398-3]
49970 [O75398-4]
49971 [O75398-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O75398

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		O75398

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in various tissues and cells such as in peripheral mononuclear cells and hormone-secreting pituitary cells. Expression in pancreatic lymph nodes of patients with type 1 diabetes is 20 times higher than in healthy controls. Highly expressed in fetal and adult brain.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000177030, Expressed in prefrontal cortex and 192 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O75398, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O75398, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000177030, Tissue enhanced (brain)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		115777, 29 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		O75398

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		O75398

Protein interaction database and analysis system

More...IntActi		O75398, 28 interactors

Molecular INTeraction database

More...MINTi		O75398

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000371846

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O75398, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1565
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Biological Magnetic Resonance Data Bank

More...BMRBi		O75398

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		O75398

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		O75398

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini193 – 273SANDPROSITE-ProRule annotationAdd BLAST81

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni403 – 478Interaction with LMO4By similarityAdd BLAST76

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi301 – 316Nuclear localization signalSequence analysisAdd BLAST16

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi2 – 122Ala-richAdd BLAST121
Compositional biasi383 – 439Pro-richAdd BLAST57

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri504 – 540MYND-typePROSITE-ProRule annotationAdd BLAST37

Keywords - Domaini

Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4333, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000159701

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_039056_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O75398

Identification of Orthologs from Complete Genome Data

More...OMAi		NDMKQSY

Database of Orthologous Groups

More...OrthoDBi		662933at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O75398

TreeFam database of animal gene trees

More...TreeFami		TF325664

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.10.390.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR010919, SAND-like_dom_sf
IPR000770, SAND_dom
IPR024119, TF_DEAF-1
IPR002893, Znf_MYND

The PANTHER Classification System

More...PANTHERi		PTHR10237, PTHR10237, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01342, SAND, 1 hit
PF01753, zf-MYND, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00258, SAND, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF63763, SSF63763, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50864, SAND, 1 hit
PS01360, ZF_MYND_1, 1 hit
PS50865, ZF_MYND_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O75398-1) [UniParc]FASTAAdd to basket
Also known as: Hu-DF1

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:565
Mass (Da):59,327
Last modified:November 1, 1998 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i3BDFEDBF6AD4BDDE
GO
Isoform 2 (identifier: O75398-3) [UniParc]FASTAAdd to basket
Also known as: NUDR8

The sequence of this isoform differs from the canonical sequence as follows:
     15-29: EAAAVAAAAAVAAAA → D

Show »
Length:551
Mass (Da):58,262
Checksum:i9ABE2A02D3AA8DA1
GO
Isoform 3 (identifier: O75398-4) [UniParc]FASTAAdd to basket
Also known as: Suppressin

The sequence of this isoform differs from the canonical sequence as follows:
     1-68: Missing.

Note: Has no predictable signal peptide.Curated
Show »
Length:497
Mass (Da):52,717
Checksum:i4EC4279532D8A4DE
GO
Isoform 4 (identifier: O75398-5) [UniParc]FASTAAdd to basket
Also known as: Hu-DF1-VAR

The sequence of this isoform differs from the canonical sequence as follows:
     223-333: GRGRCIKQGE...LLPATAATTF → WDLKPSRCLLHLCCLLRRHDLI
     501-501: E → EVIHPPRLPKVLGLQ

Show »
Length:490
Mass (Da):51,277
Checksum:iAD1869382C23FF2A
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YCH1H0YCH1_HUMAN
Deformed epidermal autoregulatory f...
DEAF1
349Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YCY2H0YCY2_HUMAN
Deformed epidermal autoregulatory f...
DEAF1
86Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0J9YX80A0A0J9YX80_HUMAN
Deformed epidermal autoregulatory f...
DEAF1
147Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0J9YWD6A0A0J9YWD6_HUMAN
Deformed epidermal autoregulatory f...
DEAF1
161Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0J9YXA4A0A0J9YXA4_HUMAN
Deformed epidermal autoregulatory f...
DEAF1
143Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAC25718 differs from that shown. Several sequencing errors.Curated
The sequence AAC25718 differs from that shown. Reason: Frameshift.Curated
The sequence AAC25719 differs from that shown. Reason: Frameshift.Curated
The sequence AAC25719 differs from that shown. Reason: Frameshift.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti65A → E in ACU88060 (PubMed:19668219).Curated1
Sequence conflicti72E → D in AAB62704 (Ref. 4) Curated1
Sequence conflicti166P → Q in ACU88060 (PubMed:19668219).Curated1
Sequence conflicti247A → T in AAB62704 (Ref. 4) Curated1
Sequence conflicti294V → L in AAB62704 (Ref. 4) Curated1
Sequence conflicti399D → G in ACU88060 (PubMed:19668219).Curated1
Sequence conflicti522N → K in AAB62704 (Ref. 4) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_013725186E → V in a primary colorectal cancer. 1 PublicationCorresponds to variant dbSNP:rs751727919Ensembl.1
Natural variantiVAR_013726191K → I in a primary colorectal cancer. 1 Publication1
Natural variantiVAR_013727191K → N in a primary colorectal cancer. 1 Publication1
Natural variantiVAR_013728199 – 202YDSE → CDND in a primary colorectal cancer. 4
Natural variantiVAR_013729202E → D in a primary colorectal cancer. 1 Publication1
Natural variantiVAR_013730218R → K in a primary colorectal cancer. 1 PublicationCorresponds to variant dbSNP:rs1127312Ensembl.1
Natural variantiVAR_071371224R → 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_071372226R → W1 PublicationCorresponds to variant dbSNP:rs587777623EnsemblClinVar.1
Natural variantiVAR_065089228I → 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_071373254R → 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_071374264Q → 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_013731350 – 352DRA → GQT in a primary colorectal cancer. 3
Natural variantiVAR_013732356E → H in a primary colorectal cancer; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_013733364S → N in a primary colorectal cancer. 1 Publication1
Natural variantiVAR_013734367Q → H in a primary colorectal cancer. 1 Publication1
Natural variantiVAR_013735370V → L in a primary colorectal cancer. 1 Publication1
Natural variantiVAR_013736397Y → F in a primary colorectal cancer. 1 Publication1
Natural variantiVAR_013737442V → A in a primary colorectal cancer. 1 Publication1
Natural variantiVAR_013738449E → K in a primary colorectal cancer. 1 Publication1
Natural variantiVAR_013739451 – 452RS → GI in a primary colorectal cancer. 2
Natural variantiVAR_013740468Q → H in a primary colorectal cancer. 1 Publication1
Natural variantiVAR_013741479H → L in a primary colorectal cancer. 1 Publication1
Natural variantiVAR_013742498E → K in a primary colorectal cancer. 1 Publication1
Natural variantiVAR_013743526T → N in a primary colorectal cancer. 1 Publication1
Natural variantiVAR_013744530R → L in a primary colorectal cancer. 1 Publication1
Natural variantiVAR_013745537 – 538QH → HL in a primary colorectal cancer. 2
Natural variantiVAR_013746542Q → H in a primary colorectal cancer. 1 Publication1
Natural variantiVAR_013747545A → G in a primary colorectal cancer. 1 PublicationCorresponds to variant dbSNP:rs34114147EnsemblClinVar.1
Natural variantiVAR_013748545A → V in a primary colorectal cancer. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0059661 – 68Missing in isoform 3. 3 PublicationsAdd BLAST68
Alternative sequenceiVSP_00596715 – 29EAAAV…VAAAA → D in isoform 2. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_038701223 – 333GRGRC…AATTF → WDLKPSRCLLHLCCLLRRHD LI in isoform 4. 1 PublicationAdd BLAST111
Alternative sequenceiVSP_038702501E → EVIHPPRLPKVLGLQ in isoform 4. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS31327.1 [O75398-1]

NCBI Reference Sequences

More...RefSeqi		NP_001280563.1, NM_001293634.1 [O75398-5]
NP_066288.2, NM_021008.3 [O75398-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000382409; ENSP00000371846; ENSG00000177030 [O75398-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10522

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10522

UCSC genome browser

More...UCSCi		uc001lqq.2, human [O75398-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS31327.1 [O75398-1]
RefSeqiNP_001280563.1, NM_001293634.1 [O75398-5]
NP_066288.2, NM_021008.3 [O75398-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2JW6NMR-A496-544[»]
4A24NMR-A501-544[»]
5UWWX-ray2.15D452-469[»]
BMRBiO75398
SMRiO75398
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi115777, 29 interactors
CORUMiO75398
ELMiO75398
IntActiO75398, 28 interactors
MINTiO75398
STRINGi9606.ENSP00000371846

PTM databases

iPTMnetiO75398
PhosphoSitePlusiO75398

Genetic variation databases

BioMutaiDEAF1

Proteomic databases

EPDiO75398
jPOSTiO75398
MassIVEiO75398
MaxQBiO75398
PaxDbiO75398
PeptideAtlasiO75398
PRIDEiO75398
ProteomicsDBi49968 [O75398-1]
49969 [O75398-3]
49970 [O75398-4]
49971 [O75398-5]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		9854, 320 antibodies

The DNASU plasmid repository

More...DNASUi		10522

Genome annotation databases

EnsembliENST00000382409; ENSP00000371846; ENSG00000177030 [O75398-1]
GeneIDi10522
KEGGihsa:10522
UCSCiuc001lqq.2, human [O75398-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		10522
DisGeNETi10522

GeneCards: human genes, protein and diseases

More...GeneCardsi		DEAF1
HGNCiHGNC:14677, DEAF1
HPAiENSG00000177030, Tissue enhanced (brain)
MalaCardsiDEAF1
MIMi602635, gene
615828, phenotype
617171, phenotype
neXtProtiNX_O75398
OpenTargetsiENSG00000177030
Orphaneti178469, Autosomal dominant non-syndromic intellectual disability
468620, Intellectual disability-epilepsy-extrapyramidal syndrome
819, Smith-Magenis syndrome
PharmGKBiPA27234
VEuPathDBiHostDB:ENSG00000177030.16

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4333, Eukaryota
GeneTreeiENSGT00940000159701
HOGENOMiCLU_039056_1_0_1
InParanoidiO75398
OMAiNDMKQSY
OrthoDBi662933at2759
PhylomeDBiO75398
TreeFamiTF325664

Enzyme and pathway databases

PathwayCommonsiO75398
SIGNORiO75398

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		10522, 9 hits in 1016 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		DEAF1, human
EvolutionaryTraceiO75398

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		10522
PharosiO75398, Tbio

Protein Ontology

More...PROi		PR:O75398
RNActiO75398, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000177030, Expressed in prefrontal cortex and 192 other tissues
ExpressionAtlasiO75398, baseline and differential
GenevisibleiO75398, HS

Family and domain databases

Gene3Di3.10.390.10, 1 hit
InterProiView protein in InterPro
IPR010919, SAND-like_dom_sf
IPR000770, SAND_dom
IPR024119, TF_DEAF-1
IPR002893, Znf_MYND
PANTHERiPTHR10237, PTHR10237, 1 hit
PfamiView protein in Pfam
PF01342, SAND, 1 hit
PF01753, zf-MYND, 1 hit
SMARTiView protein in SMART
SM00258, SAND, 1 hit
SUPFAMiSSF63763, SSF63763, 1 hit
PROSITEiView protein in PROSITE
PS50864, SAND, 1 hit
PS01360, ZF_MYND_1, 1 hit
PS50865, ZF_MYND_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDEAF1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O75398
Secondary accession number(s): A8K1F8
, A8K5R8, C7T5V5, O15152, O75399, O75510, O75511, O75512, O75513, Q9UET1
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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