Deaf1 DEAF1, transcription factor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Deaf1provided by MGI
Official Full Name: DEAF1, transcription factorprovided by MGI
Primary source: MGI:MGI:1858496
See related: Ensembl:ENSMUSG00000058886 AllianceGenome:MGI:1858496
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: NUDR; C230009B13Rik
Summary: Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in several processes, including behavioral fear response; chordate embryonic development; and visual learning. Acts upstream of or within regulation of transcription by RNA polymerase II. Located in cytoplasm and nucleus. Part of RNA polymerase II transcription regulator complex. Is expressed in several structures, including bone; early conceptus; genitourinary system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in Vulto-van Silfout-de Vries syndrome. Orthologous to human DEAF1 (DEAF1 transcription factor). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E14 (RPKM 6.3), ovary adult (RPKM 5.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 F5; 7 86.61 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (140877089..140918758, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (141297176..141338869, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.
Title: Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.
Impaired memory and marble burying activity in deformed epidermal autoregulatory factor 1 (Deaf1) conditional knockout mice.
Title: Impaired memory and marble burying activity in deformed epidermal autoregulatory factor 1 (Deaf1) conditional knockout mice.
this study shows that Deaf1 promotes eccrine gland formation
Title: The Transcription Factor Deaf1 Modulates Engrailed-1 Expression to Regulate Skin Appendage Fate.
The sex dependence of Deaf1 function in mice is consistent with a greater role for 5-HT1A autoreceptors in sensitivity to depression in men.
Title: Sex-dependent adaptive changes in serotonin-1A autoreceptor function and anxiety in Deaf1-deficient mice.
These data suggest that during the progression of type 1 diabetes, inflammation and hyperglycemia mediate the splicing of DEAF1 and loss of peripheral tissue antigen expression.
Title: Inflammation and hyperglycemia mediate Deaf1 splicing in the pancreatic lymph nodes via distinct pathways during type 1 diabetes.
DEAF1 binds to the IFNbeta promoter and to IRF3 and IRF7, that it is required for the transcription of the IFNbeta gene and IFNbeta secretion
Title: DEAF1 is a Pellino1-interacting protein required for interferon production by Sendai virus and double-stranded RNA.
reduced DEAF1 function, and subsequent loss of Eif4g3 transcription may affect peripheral tissue antigen (PTA) expression in LNSCs and contribute to the pathology of T1D.
Title: Reduced DEAF1 function during type 1 diabetes inhibits translation in lymph node stromal cells by suppressing Eif4g3.
LMO4 modulates the activity of the DEAF NES, causing nuclear accumulation of a construct containing the LMO4-interaction region of DEAF1.
Title: Contribution of DEAF1 structural domains to the interaction with the breast cancer oncogene LMO4.
Reduced raphe 5-HT content in Deaf-1(-/-) mice indicate its importance in regulation of 5-HT1A gene expression and the role of the 5-HT1A G(-1019) allele in reducing serotonergic neurotransmission by derepression of 5-HT1A autoreceptors.
Title: Increased serotonin-1A (5-HT1A) autoreceptor expression and reduced raphe serotonin levels in deformed epidermal autoregulatory factor-1 (Deaf-1) gene knock-out mice.
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.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AU042387 (e-PCR)
- UniSTS:159711

BE686771 (e-PCR)
- UniSTS:207841

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in behavioral fear response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within nervous system development	IEA Inferred from Electronic Annotation more info
involved_in neural tube closure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in regulation of mammary gland epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mammary gland epithelial cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in visual learning	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of RNA polymerase II transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in fibrillar center	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: deformed epidermal autoregulatory factor 1 homolog

Names: nuclear DEAF-1-related transcriptional regulator; suppressin

NCBI Reference Sequences (RefSeq)

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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_001282072.1 → NP_001269001.1 deformed epidermal autoregulatory factor 1 homolog isoform 2

See identical proteins and their annotated locations for NP_001269001.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate 5' structure, and thus differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at an alternate AUG and result in an isoform (c) with a shorter and distinct N-terminus, compared to isoform 1.

Source sequence(s)

AI604909, AK144333, CD353366, CJ045430

Conserved Domains (1) summary

pfam01753
Location:250 → 286

zf-MYND; MYND finger
NM_001282073.1 → NP_001269002.1 deformed epidermal autoregulatory factor 1 homolog isoform 3

See identical proteins and their annotated locations for NP_001269002.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) represents use of an alternate promoter, differs in the 5' UTR, and has multiple differences in the coding region, compared to variant 1. The resulting protein (isoform 3) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AA269946, AC163434, AI430175, AI604909, BY051636, CF538574, CJ281229, W53084

UniProtKB/TrEMBL

Q80V49

Conserved Domains (1) summary

smart00258
Location:116 → 188

SAND; SAND domain
NM_001282076.1 → NP_001269005.1 deformed epidermal autoregulatory factor 1 homolog isoform 4

See identical proteins and their annotated locations for NP_001269005.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and has multiple differences in the coding region, compared to variant 1. The resulting protein (isoform 4) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AC163434

Conserved Domains (1) summary

pfam01753
Location:249 → 285

zf-MYND; MYND finger
NM_016874.3 → NP_058570.1 deformed epidermal autoregulatory factor 1 homolog isoform 1

See identical proteins and their annotated locations for NP_058570.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AI604909, AK146546, CJ045430

Consensus CDS

CCDS40185.1

UniProtKB/Swiss-Prot

C7SHZ9, Q3UJA4, Q9Z1T5

UniProtKB/TrEMBL

A0A1B0GRZ5

Related

ENSMUSP00000079395.8, ENSMUST00000080553.9

Conserved Domains (2) summary

pfam01342
Location:199 → 273

SAND; SAND domain

pfam01753
Location:505 → 541

zf-MYND; MYND finger

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

140877089..140918758 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030242789.2 → XP_030098649.1 deformed epidermal autoregulatory factor 1 homolog isoform X5

UniProtKB/TrEMBL

Q8BUW3

Conserved Domains (2) summary

smart00258
Location:116 → 188

SAND; SAND domain

pfam01753
Location:419 → 455

zf-MYND; MYND finger
XM_006536206.4 → XP_006536269.1 deformed epidermal autoregulatory factor 1 homolog isoform X2

UniProtKB/TrEMBL

A0A1B0GRZ5

Conserved Domains (1) summary

smart00258
Location:202 → 274

SAND; SAND domain
XM_030242786.1 → XP_030098646.1 deformed epidermal autoregulatory factor 1 homolog isoform X6

UniProtKB/TrEMBL

Q8BUW3

Conserved Domains (2) summary

smart00258
Location:116 → 188

SAND; SAND domain

pfam01753
Location:418 → 454

zf-MYND; MYND finger
XM_017322368.3 → XP_017177857.1 deformed epidermal autoregulatory factor 1 homolog isoform X1

UniProtKB/TrEMBL

A0A1B0GRZ5

Related

ENSMUSP00000147728.2, ENSMUST00000211537.2

Conserved Domains (2) summary

smart00258
Location:202 → 274

SAND; SAND domain

pfam01753
Location:504 → 540

zf-MYND; MYND finger
XM_006536213.1 → XP_006536276.1 deformed epidermal autoregulatory factor 1 homolog isoform X10

See identical proteins and their annotated locations for XP_006536276.1

Conserved Domains (1) summary

pfam01753
Location:249 → 285

zf-MYND; MYND finger
XM_030242784.2 → XP_030098644.1 deformed epidermal autoregulatory factor 1 homolog isoform X5

UniProtKB/TrEMBL

Q8BUW3

Conserved Domains (2) summary

smart00258
Location:116 → 188

SAND; SAND domain

pfam01753
Location:419 → 455

zf-MYND; MYND finger
XM_030242787.2 → XP_030098647.1 deformed epidermal autoregulatory factor 1 homolog isoform X7

UniProtKB/TrEMBL

Q80V49

Conserved Domains (1) summary

smart00258
Location:116 → 188

SAND; SAND domain
XM_017322370.3 → XP_017177859.1 deformed epidermal autoregulatory factor 1 homolog isoform X10

Conserved Domains (1) summary

pfam01753
Location:249 → 285

zf-MYND; MYND finger
XM_030242791.2 → XP_030098651.1 deformed epidermal autoregulatory factor 1 homolog isoform X9

Conserved Domains (1) summary

pfam01753
Location:250 → 286

zf-MYND; MYND finger
XM_030242785.2 → XP_030098645.1 deformed epidermal autoregulatory factor 1 homolog isoform X6

UniProtKB/TrEMBL

Q8BUW3

Conserved Domains (2) summary

smart00258
Location:116 → 188

SAND; SAND domain

pfam01753
Location:418 → 454

zf-MYND; MYND finger
XM_036153248.1 → XP_036009141.1 deformed epidermal autoregulatory factor 1 homolog isoform X3

UniProtKB/TrEMBL

A0A1B0GRZ5

Conserved Domains (1) summary

pfam01342
Location:201 → 273

SAND; SAND domain
XM_006536207.4 → XP_006536270.1 deformed epidermal autoregulatory factor 1 homolog isoform X4

UniProtKB/TrEMBL

A0A1B0GRZ5

Conserved Domains (1) summary

smart00258
Location:202 → 274

SAND; SAND domain
XM_030242788.2 → XP_030098648.1 deformed epidermal autoregulatory factor 1 homolog isoform X8

UniProtKB/TrEMBL

Q3TYJ5, Q8BUW3

Conserved Domains (1) summary

smart00258
Location:116 → 188

SAND; SAND domain
XM_006536211.4 → XP_006536274.1 deformed epidermal autoregulatory factor 1 homolog isoform X8

See identical proteins and their annotated locations for XP_006536274.1

UniProtKB/TrEMBL

Q3TYJ5, Q8BUW3

Conserved Domains (1) summary

smart00258
Location:116 → 188

SAND; SAND domain