Seroatlas · Human Serome Atlas

DEAF1

Deformed epidermal autoregulatory factor 1 homolog

Also known as: DEAF1_HUMAN, NUDR, SPN, ZMYND5

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O75398
Gene: DEAF1
Ensembl: ENSG00000177030
Chromosome: 11
Canonical length: 565 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm,Nucleoli fibrillar center
Secretome location: Intracellular and membrane
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene encodes a zinc finger domain-containing protein that functions as a regulator of transcription. The encoded proteins binds to its own promoter as well as to that of several target genes. Activity of this protein is important in the regulation of embryonic development. Mutations in this gene have been found in individuals with autosomal dominant cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

Canonical amino-acid sequenceUniProt

565 residues, UniProt reviewed canonical sequence.

>O75398|DEAF1
     1  MEDSDSAAKQ LGLAEAAAVA AAAAVAAAAA AAAGGEAEEP VLSRDEDSEE DADSEAERET
    61  PRVTAVAVMA AEPGHMDMGA EALPGPDEAA AAAAFAEVTT VTVANVGAAA DNVFTTSVAN
   121  AASISGHVLS GRTALQIGDS LNTEKATLIV VHTDGSIVET TGLKGPAAPL TPGPQSPPTP
   181  LAPGQEKGGT KYNWDPSVYD SELPVRCRNI SGTLYKNRLG SGGRGRCIKQ GENWYSPTEF
   241  EAMAGRASSK DWKRSIRYAG RPLQCLIQDG ILNPHAASCT CAACCDDMTL SGPVRLFVPY
   301  KRRKKENELP TTPVKKDSPK NITLLPATAA TTFTVTPSGQ ITTSGALTFD RASTVEATAV
   361  ISESPAQGDV FAGATVQEAS VQPPCRASHP EPHYPGYQDS CQIAPFPEAA LPTSHPKIVL
   421  TSLPALAVPP PTPTKAAPPA LVNGLELSEP RSWLYLEEMV NSLLNTAQQL KTLFEQAKHA
   481  STYREAATNQ AKIHADAERK EQSCVNCGRE AMSECTGCHK VNYCSTFCQR KDWKDHQHIC
   541  GQSAAVTVQA DEVHVAESVM EKVTV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DEAF1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Secreted
Secreted: Yes
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.6
Highest tissue expression: 43 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 43 nTPM
amygdala: 40 nTPM
hippocampal formation: 36 nTPM
cerebellum: 24 nTPM
basal ganglia: 22 nTPM
hypothalamus: 16 nTPM

Single-cell type

esophageal apical cells: 342 nCPM
cardiomyocytes: 221 nCPM
renal collecting duct intercalated cells: 90 nCPM
proximal tubule cells: 82 nCPM
epicardial cells: 80 nCPM
brain excitatory neurons: 68 nCPM

Immune cell

naive CD4 T-cell: 2.4 nTPM
myeloid DC: 2 nTPM
eosinophil: 1.9 nTPM
memory CD4 T-cell: 1.8 nTPM
classical monocyte: 1.4 nTPM
memory CD8 T-cell: 1.3 nTPM

Brain region

hippocampal formation: 70 nTPM
cerebral cortex: 69 nTPM
amygdala: 54 nTPM
basal ganglia: 52 nTPM
white matter: 47 nTPM
midbrain: 46 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DEAF1.

Disease | AllUniProt

Conditions DEAF1 is implicated in, by any mechanism.

Vulto-van Silfout-de Vries syndrome (VSVS) MIM:615828
Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures (NEDHELS) MIM:617171

Disease | GeneticClinVar

104 pathogenic / likely-pathogenic of 1,028 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Intellectual disability, autosomal dominant 24
Intellectual disability-epilepsy-extrapyramidal syndrome
DEAF1-related disorder
Inborn genetic diseases
Neurodevelopmental delay

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.7
gnomAD pLI: 0
gnomAD missense Z: 1.5
DepMap mean gene effect: 0.13
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DEAF1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DEAF1 as an antibody target. Whether an autoantibody or antibody against DEAF1 could matter depends on whether native DEAF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DEAF1 is annotated as secreted, so native DEAF1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label DEAF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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