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UniProtKB - Q8N859 (ZN713_HUMAN)
Protein
Zinc finger protein 713
Gene
ZNF713
Organism
Homo sapiens (Human)
Status
Functioni
May be involved in transcriptional regulation.
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 255 – 280 | C2H2-type 1; degeneratePROSITE-ProRule annotationAdd BLAST | 26 | |
Zinc fingeri | 286 – 308 | C2H2-type 2PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 314 – 336 | C2H2-type 3PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 342 – 364 | C2H2-type 4PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 370 – 392 | C2H2-type 5PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 398 – 420 | C2H2-type 6PROSITE-ProRule annotationAdd BLAST | 23 |
GO - Molecular functioni
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: GO_Central
- metal ion binding Source: UniProtKB-KW
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- regulation of transcription, DNA-templated Source: GO_Central
Keywordsi
Molecular function | DNA-binding |
Biological process | Transcription, Transcription regulation |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q8N859 |
Reactomei | R-HSA-212436, Generic Transcription Pathway |
SignaLinki | Q8N859 |
Names & Taxonomyi
Protein namesi | Recommended name: Zinc finger protein 713Curated |
Gene namesi | Name:ZNF713Imported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:22043, ZNF713 |
MIMi | 616181, gene |
neXtProti | NX_Q8N859 |
VEuPathDBi | HostDB:ENSG00000178665 |
Subcellular locationi
Nucleus
- Nucleus Curated
Nucleus
- nucleus Source: UniProtKB-SubCell
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
A 7p11.2 folate-sensitive fragile site, FRA7A, has been identified in 2 unrelated families diagnosed with an autistic disorder. FRA7A is associated with a CGG-repeat expansion in a ZNF713 5'-intron. In the first family, the expanded allele contained about 450 CGG-repeats. It showed hypermethylation and reduced ZNF713 expression. In the second family, 3 autistic siblings exhibited a heterozygous expansion of about 70 repeats, corresponding to premutations, which were partially or mosaically methylated. Mitotic instability of the premutation was observed in one affected sibling. In this family, ZNF713 tends to be up-regulated. It has been suggested that ZNF713 misregulation in the brain might be involved in the pathogenicity of autistic disorder (PubMed:25196122).1 Publication
Keywords - Diseasei
Autism spectrum disorderOrganism-specific databases
OpenTargetsi | ENSG00000178665 |
PharmGKBi | PA143485679 |
Miscellaneous databases
Pharosi | Q8N859, Tdark |
Genetic variation databases
BioMutai | ZNF713 |
DMDMi | 74759999 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000233285 | 1 – 443 | Zinc finger protein 713Add BLAST | 443 |
Proteomic databases
EPDi | Q8N859 |
jPOSTi | Q8N859 |
MassIVEi | Q8N859 |
MaxQBi | Q8N859 |
PaxDbi | Q8N859 |
PeptideAtlasi | Q8N859 |
PRIDEi | Q8N859 |
ProteomicsDBi | 72376 |
PTM databases
iPTMneti | Q8N859 |
PhosphoSitePlusi | Q8N859 |
Expressioni
Tissue specificityi
Expressed in fetal and adult brain.1 Publication
Gene expression databases
Bgeei | ENSG00000178665, Expressed in corpus callosum and 154 other tissues |
ExpressionAtlasi | Q8N859, baseline and differential |
Genevisiblei | Q8N859, HS |
Organism-specific databases
HPAi | ENSG00000178665, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 131546, 8 interactors |
STRINGi | 9606.ENSP00000416662 |
Miscellaneous databases
RNActi | Q8N859, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 32 – 102 | KRABPROSITE-ProRule annotationAdd BLAST | 71 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 23 | DisorderedSequence analysisAdd BLAST | 23 | |
Regioni | 99 – 118 | DisorderedSequence analysisAdd BLAST | 20 |
Sequence similaritiesi
Belongs to the krueppel C2H2-type zinc-finger protein family.Curated
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 255 – 280 | C2H2-type 1; degeneratePROSITE-ProRule annotationAdd BLAST | 26 | |
Zinc fingeri | 286 – 308 | C2H2-type 2PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 314 – 336 | C2H2-type 3PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 342 – 364 | C2H2-type 4PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 370 – 392 | C2H2-type 5PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 398 – 420 | C2H2-type 6PROSITE-ProRule annotationAdd BLAST | 23 |
Keywords - Domaini
Repeat, Zinc-fingerPhylogenomic databases
eggNOGi | KOG1721, Eukaryota |
GeneTreei | ENSGT00950000182890 |
InParanoidi | Q8N859 |
OMAi | YQLEFNQ |
OrthoDBi | 1318335at2759 |
PhylomeDBi | Q8N859 |
TreeFami | TF337055 |
Family and domain databases
CDDi | cd07765, KRAB_A-box, 1 hit |
InterProi | View protein in InterPro IPR001909, KRAB IPR036051, KRAB_dom_sf IPR036236, Znf_C2H2_sf IPR013087, Znf_C2H2_type |
Pfami | View protein in Pfam PF01352, KRAB, 1 hit PF00096, zf-C2H2, 5 hits |
SMARTi | View protein in SMART SM00349, KRAB, 1 hit SM00355, ZnF_C2H2, 6 hits |
SUPFAMi | SSF109640, SSF109640, 1 hit SSF57667, SSF57667, 4 hits |
PROSITEi | View protein in PROSITE PS50805, KRAB, 1 hit PS00028, ZINC_FINGER_C2H2_1, 5 hits PS50157, ZINC_FINGER_C2H2_2, 6 hits |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All
Q8N859-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MPSQNAVFSQ EGNMEEEEMN DGSQMVRSQE SLTFQDVAVD FTREEWDQLY
60 70 80 90 100
PAQKNLYRDV MLENYRNLVA LGYQLCKPEV IAQLELEEEW VIERDSLLDT
110 120 130 140 150
HPDGENRPEI KKSTTSQNIS DENQTHEMIM ERLAGDSFWY SILGGLWDFD
160 170 180 190 200
YHPEFNQENH KRYLGQVTLT HKKITQERSL ECNKFAENCN LNSNLMQQRI
210 220 230 240 250
PSIKIPLNSD TQGNSIKHNS DLIYYQGNYV RETPYEYSEC GKIFNQHILL
260 270 280 290 300
TDHIHTAEKP SECGKAFSHT SSLSQPQMLL TGEKPYKCDE CGKRFSQRIH
310 320 330 340 350
LIQHQRIHTG EKPFICNGCG KAFRQHSSFT QHLRIHTGEK PYKCNQCGKA
360 370 380 390 400
FSRITSLTEH HRLHTGEKPY ECGFCGKAFS QRTHLNQHER THTGEKPYKC
410 420 430 440
NECGKAFSQS AHLNQHRKIH TREKLCEYKC EQTVRHSPSF SST
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketI3L0E3 | I3L0E3_HUMAN | HCG1984214, isoform CRA_a | hCG_1984214 | 225 | Annotation score: | ||
F8WD84 | F8WD84_HUMAN | Zinc finger protein 713 | ZNF713 | 51 | Annotation score: | ||
A0A8I5JYA4 | A0A8I5JYA4_HUMAN | HCG1984214, isoform CRA_c | ZNF713 hCG_1984214 | 430 | Annotation score: |
Polymorphismi
The ZNF713 gene contains a polymorphic CGG-repeat expansion in the non-coding region: 5 to 22 repeats are found in the normal population, most frequently 7. Higher numbers of repeats (50-200 CGG) are considered as premutations, which may affect methylation and cause mitotic instability.1 Publication
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AC092579 Genomic DNA No translation available. AC092647 Genomic DNA No translation available. AK097282 mRNA Translation: BAC04991.1 |
CCDSi | CCDS34639.2 |
RefSeqi | NP_872439.2, NM_182633.2 |
Genome annotation databases
Ensembli | ENST00000429591.4; ENSP00000416662.3; ENSG00000178665.16 |
GeneIDi | 349075 |
MANE-Selecti | ENST00000429591.4; ENSP00000416662.3; NM_182633.3; NP_872439.2 |
UCSCi | uc003trc.2, human |
Keywords - Coding sequence diversityi
Triplet repeat expansionSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AC092579 Genomic DNA No translation available. AC092647 Genomic DNA No translation available. AK097282 mRNA Translation: BAC04991.1 |
CCDSi | CCDS34639.2 |
RefSeqi | NP_872439.2, NM_182633.2 |
3D structure databases
AlphaFoldDBi | Q8N859 |
SMRi | Q8N859 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 131546, 8 interactors |
STRINGi | 9606.ENSP00000416662 |
PTM databases
iPTMneti | Q8N859 |
PhosphoSitePlusi | Q8N859 |
Genetic variation databases
BioMutai | ZNF713 |
DMDMi | 74759999 |
Proteomic databases
EPDi | Q8N859 |
jPOSTi | Q8N859 |
MassIVEi | Q8N859 |
MaxQBi | Q8N859 |
PaxDbi | Q8N859 |
PeptideAtlasi | Q8N859 |
PRIDEi | Q8N859 |
ProteomicsDBi | 72376 |
Protocols and materials databases
Antibodypediai | 13842, 112 antibodies from 20 providers |
DNASUi | 349075 |
Genome annotation databases
Ensembli | ENST00000429591.4; ENSP00000416662.3; ENSG00000178665.16 |
GeneIDi | 349075 |
MANE-Selecti | ENST00000429591.4; ENSP00000416662.3; NM_182633.3; NP_872439.2 |
UCSCi | uc003trc.2, human |
Organism-specific databases
CTDi | 349075 |
GeneCardsi | ZNF713 |
HGNCi | HGNC:22043, ZNF713 |
HPAi | ENSG00000178665, Low tissue specificity |
MIMi | 616181, gene |
neXtProti | NX_Q8N859 |
OpenTargetsi | ENSG00000178665 |
PharmGKBi | PA143485679 |
VEuPathDBi | HostDB:ENSG00000178665 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1721, Eukaryota |
GeneTreei | ENSGT00950000182890 |
InParanoidi | Q8N859 |
OMAi | YQLEFNQ |
OrthoDBi | 1318335at2759 |
PhylomeDBi | Q8N859 |
TreeFami | TF337055 |
Enzyme and pathway databases
PathwayCommonsi | Q8N859 |
Reactomei | R-HSA-212436, Generic Transcription Pathway |
SignaLinki | Q8N859 |
Miscellaneous databases
BioGRID-ORCSi | 349075, 6 hits in 1092 CRISPR screens |
ChiTaRSi | ZNF713, human |
GenomeRNAii | 349075 |
Pharosi | Q8N859, Tdark |
PROi | PR:Q8N859 |
RNActi | Q8N859, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000178665, Expressed in corpus callosum and 154 other tissues |
ExpressionAtlasi | Q8N859, baseline and differential |
Genevisiblei | Q8N859, HS |
Family and domain databases
CDDi | cd07765, KRAB_A-box, 1 hit |
InterProi | View protein in InterPro IPR001909, KRAB IPR036051, KRAB_dom_sf IPR036236, Znf_C2H2_sf IPR013087, Znf_C2H2_type |
Pfami | View protein in Pfam PF01352, KRAB, 1 hit PF00096, zf-C2H2, 5 hits |
SMARTi | View protein in SMART SM00349, KRAB, 1 hit SM00355, ZnF_C2H2, 6 hits |
SUPFAMi | SSF109640, SSF109640, 1 hit SSF57667, SSF57667, 4 hits |
PROSITEi | View protein in PROSITE PS50805, KRAB, 1 hit PS00028, ZINC_FINGER_C2H2_1, 5 hits PS50157, ZINC_FINGER_C2H2_2, 6 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | ZN713_HUMAN | |
Accessioni | Q8N859Primary (citable) accession number: Q8N859 Secondary accession number(s): A0A0M3HEQ9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 2, 2006 |
Last sequence update: | September 29, 2021 | |
Last modified: | May 25, 2022 | |
This is version 157 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families