DEAF1 deformed epidermal autoregulatory factor 1 (Drosophila) [Homo sapiens] - Gene

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Summary

Official Symbol: DEAF1provided by HGNC
Official Full Name: deformed epidermal autoregulatory factor 1 (Drosophila)provided by HGNC
Primary source: HGNC:14677
See related: Ensembl:ENSG00000177030; HPRD:04027; MIM:602635; Vega:OTTHUMG00000165363
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SPN; NUDR; ZMYND5

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Genomic context

Location :: 11p15.5

Sequence :: Chromosome: 11; NC_000011.9 (644225..695740, complement)

See DEAF1 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Data identify DEAF1 as an interactor and in vitro substrate of GSK3A and GSK3B that interacts with the phosphatidylinositol 3-kinase-mammalian target of rapamycin pathway.
Title: Interactome mapping of the phosphatidylinositol 3-kinase-mammalian target of rapamycin pathway identifies deformed epidermal autoregulatory factor-1 as a new glycogen synthase kinase-3 interactor.
These results suggest that transcription factors such as Aire and Deaf1, which exert global transcriptional regulatory functions, may play important roles in self-renewal of ESCs and maintaining ESC in a transcriptionally hyperactive state.
Title: Aire regulates the expression of differentiation-associated genes and self-renewal of embryonic stem cells.
DEAF-1 is a trans-acting factor that merits further investigation as a potential tool for modulating GDF5 expression.
Title: Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism.
Lower peripheral tissue antigens (PTA) expression resulting from the alternative splicing of DEAF1 may contribute to the pathogenesis of type 1 diabetes.
Title: Deaf1 isoforms control the expression of genes encoding peripheral tissue antigens in the pancreatic lymph nodes during type 1 diabetes.
In this study the NUDR immunoreactivity as measured by Western blot was significantly decreased in the prefrontal cortex of female depressed subjects (42%, p=0.02) and unchanged in male depressed subjects relative to gender-matched control subjects.
Title: Gender-specific decrease in NUDR and 5-HT1A receptor proteins in the prefrontal cortex of subjects with major depressive disorder.
Overexpression of transgenic DEAF-1 in human breast epithelial cells enhances cell proliferation.
Title: Deaf-1 regulates epithelial cell proliferation and side-branching in the mammary gland.
Cell-specific regulation by Deaf-1 could underlie region-specific alterations in 5-HT1A receptor expression in different mood disorders.
Title: Cell-specific repressor or enhancer activities of Deaf-1 at a serotonin 1A receptor gene polymorphism.
DEAF1 has nuclear export signal and protein interaction domains
Title: Identification of a nuclear export signal and protein interaction domains in deformed epidermal autoregulatory factor-1 (DEAF-1).
The spn gene was mutated in the primary CRC, the expression of SPN was primarily cytoplasmic in nonmucinous CRCs and nuclear in mucinous CRCs.
Title: Altered subcellular localization of suppressin, a novel inhibitor of cell-cycle entry, is an independent prognostic factor in colorectal adenocarcinomas.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_066288.2	NP_066288.2	DEAF1	BIND	PubMed	DEAF-1 interacts with DEAF-1.
NP_066288.2			BIND	PubMed	DEAF-1 interacts with DNA containing TTCG elements.
O75398	Q9H1I8	ASCC2	HPRD	PubMed
O75398	Integrator complex subunit 1	INTS1	HPRD	PubMed
BioGRID:115777	BioGRID:113684	AIMP2	BioGRID	PubMed	Two-hybrid
BioGRID:115777	BioGRID:123921	ASCC2	BioGRID	PubMed	Two-hybrid
BioGRID:115777	BioGRID:116312	CDC37	BioGRID	PubMed	Two-hybrid
BioGRID:115777	BioGRID:107460	CDKN1A	BioGRID	PubMed	Two-hybrid
BioGRID:115777	BioGRID:108564	FHL1	BioGRID	PubMed	Two-hybrid
BioGRID:115777	BioGRID:109501	HRAS	BioGRID	PubMed	Two-hybrid
BioGRID:115777	BioGRID:114113	LMO4	BioGRID	PubMed	Two-hybrid
BioGRID:115777	BioGRID:111317	PIN1	BioGRID	PubMed	Two-hybrid
BioGRID:115777	BioGRID:111824	RAD23B	BioGRID	PubMed	Two-hybrid
BioGRID:115777	BioGRID:112938	TK1	BioGRID	PubMed	Two-hybrid

Function	Evidence Code	Pubs
DNA binding	IEA Inferred from Electronic Annotation more info
double-stranded DNA binding	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info
zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
anatomical structure morphogenesis	TAS Traceable Author Statement more info	PubMed
embryonic skeletal system development	ISS Inferred from Sequence or Structural Similarity more info
germ cell development	TAS Traceable Author Statement more info	PubMed
multicellular organismal development	IEA Inferred from Electronic Annotation more info
nervous system development	IEA Inferred from Electronic Annotation more info
neural tube closure	ISS Inferred from Sequence or Structural Similarity more info
regulation of mammary gland epithelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
regulation of transcription from RNA polymerase II promoter	IEA Inferred from Electronic Annotation more info
transcription from RNA polymerase II promoter	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IEA Inferred from Electronic Annotation more info
extracellular region	IEA Inferred from Electronic Annotation more info
nucleus	IDA Inferred from Direct Assay more info	PubMed
nucleus	IEA Inferred from Electronic Annotation more info
transcription factor complex	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: deformed epidermal autoregulatory factor 1 homolog

Names: deformed epidermal autoregulatory factor 1 homolog; suppressin; zinc finger MYND domain-containing protein 5; nuclear DEAF-1-related transcriptional regulator

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_021008.2 → NP_066288.2 deformed epidermal autoregulatory factor 1 homolog

Status: VALIDATED

Source sequence(s)

BC053322, BI463261, BM696110, BQ267366

Consensus CDS

CCDS31327.1

UniProtKB/Swiss-Prot

O75398

Related

ENSP00000371846, OTTHUMP00000229456, ENST00000382409, OTTHUMT00000383614

Conserved Domains (2) summary

pfam01753
Location:504 – 540
Blast Score: 158

zf-MYND; MYND finger

cl02536
Location:193 – 272
Blast Score: 308

SAND; SAND domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p5 Primary Assembly

Range

644225..695740, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

460942..512153, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC131934.13 (54985..104782)	None
genomic	AP006284.2 (102940..104657)	None
genomic	CH471158.1	EAX02370.1
		EAX02371.1
mRNA	AB209831.1	BAD93068.1
mRNA	AF007165.1	AAB62704.1
mRNA	AF049459.1	AAC79676.1
mRNA	AF049460.1	AAC79677.1
mRNA	AF068892.1	AAC25714.1
mRNA	AF068893.1	AAC25715.1
mRNA	AF068894.1	AAC25716.1
mRNA	AF068895.1	AAC25717.1
mRNA	AF068896.1	AAC25718.1
mRNA	AF068897.1	AAC25719.1
mRNA	AK289873.1	BAF82562.1
mRNA	AK291383.1	BAF84072.1
mRNA	BC042135.1	None
mRNA	BC053322.1	AAH53322.1
mRNA	BI463261.1	None
mRNA	BM696110.1	None
mRNA	BQ267366.1	None
mRNA	FJ985253.1	ACU88060.1
other-genetic	EU831436.1	ACE87123.1
other-genetic	EU831528.1	ACE86447.1