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UniProtKB - O75398 (DEAF1_HUMAN)

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Protein

Deformed epidermal autoregulatory factor 1 homolog

Gene

DEAF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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
Zinc fingeri504 – 540MYND-typePROSITE-ProRule annotationAdd BLAST37

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • anatomical structure morphogenesis Source: ProtInc
  • behavioral fear response Source: Ensembl
  • 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
  • visual learning Source: Ensembl
View the complete GO annotation on QuickGO ...

Keywordsi

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

Enzyme and pathway databases

SIGNORiO75398

Names & Taxonomyi

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
Gene namesi
Name:DEAF1
Synonyms:SPN, ZMYND5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000177030.16
HGNCiHGNC:14677 DEAF1
MIMi602635 gene
neXtProtiNX_O75398

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus, Secreted

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal dominant 24 (MRD24)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
See also OMIM:615828
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071371224R → W in MRD24; loss of DEAF1-promoter repression; loss of transcriptional activation of EIF4G3; loss of DNA binding; decreased interaction with XRCC6. 1 PublicationCorresponds to variant dbSNP:rs587777408EnsemblClinVar.1
Natural variantiVAR_065089228I → S in MRD24; 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:rs587777406EnsemblClinVar.1
Natural variantiVAR_071373254R → S in MRD24; loss of DEAF1-promoter repression; gain of transcriptional activation of EIF4G3; a 9-fold reduction in DNA binding. 1 PublicationCorresponds to variant dbSNP:rs587777409EnsemblClinVar.1
Natural variantiVAR_071374264Q → P in MRD24; 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
Dyskinesia, seizures, and intellectual developmental disorder (DYSEIDD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurodevelopmental disorder characterized by psychomotor delay, epilepsy, intellectual disability, speech impairment and dyskinesia of the limbs. Patients also manifest autistic features and other behavioral abnormalities. DYSEIDD transmission pattern is consistent with autosomal recessive inheritance.
See also OMIM:617171

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 mutation, Epilepsy, Mental retardation

Organism-specific databases

DisGeNETi10522
MalaCardsiDEAF1
MIMi615828 phenotype
617171 phenotype
OpenTargetsiENSG00000177030
PharmGKBiPA27234

Polymorphism and mutation databases

BioMutaiDEAF1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000740841 – 565Deformed epidermal autoregulatory factor 1 homologAdd BLAST565

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei171PhosphothreonineBy similarity1
Modified residuei176PhosphoserineCombined sources1
Modified residuei179PhosphothreonineBy similarity1
Modified residuei432PhosphothreonineCombined sources1
Modified residuei448PhosphoserineBy similarity1

Post-translational modificationi

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

Keywords - PTMi

Phosphoprotein

Proteomic databases

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

PTM databases

iPTMnetiO75398
PhosphoSitePlusiO75398

Expressioni

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

BgeeiENSG00000177030
CleanExiHS_SPN
ExpressionAtlasiO75398 baseline and differential
GenevisibleiO75398 HS

Organism-specific databases

HPAiHPA030302

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 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi115777, 25 interactors
CORUMiO75398
ELMiO75398
IntActiO75398, 23 interactors
MINTiO75398
STRINGi9606.ENSP00000371846

Structurei

Secondary structure

1565
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi456 – 463Combined sources8
Beta strandi505 – 510Combined sources6
Beta strandi512 – 514Combined sources3
Turni516 – 518Combined sources3
Beta strandi520 – 525Combined sources6
Helixi526 – 532Combined sources7
Turni533 – 535Combined sources3
Helixi536 – 538Combined sources3
Turni539 – 541Combined sources3

3D structure databases

ProteinModelPortaliO75398
SMRiO75398
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO75398

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini193 – 273SANDPROSITE-ProRule annotationAdd BLAST81

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni403 – 478Interaction with LMO4By similarityAdd BLAST76

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi301 – 316Nuclear localization signalSequence analysisAdd BLAST16

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

eggNOGiKOG4333 Eukaryota
ENOG410ZMTP LUCA
GeneTreeiENSGT00390000013479
HOVERGENiHBG051335
InParanoidiO75398
OMAiQSCVNCG
OrthoDBiEOG091G0PAX
PhylomeDBiO75398
TreeFamiTF325664

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

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

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

This isoform has been chosen as the 'canonical' 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
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

Sequence cautioni

The sequence AAC25718 differs from that shown. Several sequencing errors.Curated
Isoform 3 : The sequence AAC25718 differs from that shown. Reason: Frameshift at positions 222 and 236.Curated
The sequence AAC25719 differs from that shown. Reason: Frameshift at positions 222 and 236.Curated
Isoform 3 : The sequence AAC25719 differs from that shown. Reason: Frameshift at positions 222 and 236.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 MRD24; loss of DEAF1-promoter repression; loss of transcriptional activation of EIF4G3; loss of DNA binding; decreased interaction with XRCC6. 1 PublicationCorresponds to variant dbSNP:rs587777408EnsemblClinVar.1
Natural variantiVAR_071372226R → W1 PublicationCorresponds to variant dbSNP:rs587777623EnsemblClinVar.1
Natural variantiVAR_065089228I → S in MRD24; 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:rs587777406EnsemblClinVar.1
Natural variantiVAR_071373254R → S in MRD24; loss of DEAF1-promoter repression; gain of transcriptional activation of EIF4G3; a 9-fold reduction in DNA binding. 1 PublicationCorresponds to variant dbSNP:rs587777409EnsemblClinVar.1
Natural variantiVAR_071374264Q → P in MRD24; 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
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:
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]
UniGeneiHs.243994

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDEAF1_HUMAN
AccessioniPrimary (citable) accession number: O75398
Secondary accession number(s): A8K1F8
, A8K5R8, C7T5V5, O15152, O75399, O75510, O75511, O75512, O75513, Q9UET1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 13, 2002
Last sequence update: November 1, 1998
Last modified: July 18, 2018
This is version 185 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  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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