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Protein

Zinc finger protein 713

Gene

ZNF713

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

May be involved in transcriptional regulation.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri273 – 295C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri301 – 323C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri329 – 351C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri357 – 379C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri385 – 407C2H2-type 5PROSITE-ProRule annotationAdd BLAST23

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000178665-MONOMER.
ReactomeiR-HSA-212436. Generic Transcription Pathway.

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger protein 713
Gene namesi
Name:ZNF713
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:22043. ZNF713.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & 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).

Keywords - Diseasei

Autism spectrum disorder

Organism-specific databases

DisGeNETi349075.
OpenTargetsiENSG00000178665.
PharmGKBiPA143485679.

Polymorphism and mutation databases

BioMutaiZNF713.
DMDMi74759999.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002332851 – 430Zinc finger protein 713Add BLAST430

Proteomic databases

EPDiQ8N859.
MaxQBiQ8N859.
PaxDbiQ8N859.
PeptideAtlasiQ8N859.
PRIDEiQ8N859.

PTM databases

iPTMnetiQ8N859.
PhosphoSitePlusiQ8N859.

Expressioni

Tissue specificityi

Expressed in fetal and adult brain.1 Publication

Gene expression databases

BgeeiENSG00000178665.
CleanExiHS_ZNF713.
ExpressionAtlasiQ8N859. baseline and differential.
GenevisibleiQ8N859. HS.

Organism-specific databases

HPAiHPA059425.
HPA062887.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000416662.

Structurei

3D structure databases

ProteinModelPortaliQ8N859.
SMRiQ8N859.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini19 – 89KRABPROSITE-ProRule annotationAdd BLAST71

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi2 – 5Poly-Glu4

Sequence similaritiesi

Contains 5 C2H2-type zinc fingers.PROSITE-ProRule annotation
Contains 1 KRAB domain.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri273 – 295C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri301 – 323C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri329 – 351C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri357 – 379C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri385 – 407C2H2-type 5PROSITE-ProRule annotationAdd BLAST23

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00840000129852.
HOGENOMiHOG000234617.
HOVERGENiHBG018163.
InParanoidiQ8N859.
OMAiTQGNSIK.
OrthoDBiEOG091G0MBT.
PhylomeDBiQ8N859.
TreeFamiTF337055.

Family and domain databases

CDDicd07765. KRAB_A-box. 1 hit.
Gene3Di3.30.160.60. 7 hits.
InterProiIPR001909. KRAB.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF01352. KRAB. 1 hit.
PF00096. zf-C2H2. 2 hits.
PF13912. zf-C2H2_6. 1 hit.
[Graphical view]
SMARTiSM00349. KRAB. 1 hit.
SM00355. ZnF_C2H2. 6 hits.
[Graphical view]
SUPFAMiSSF109640. SSF109640. 1 hit.
PROSITEiPS50805. KRAB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 5 hits.
PS50157. ZINC_FINGER_C2H2_2. 6 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8N859-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MEEEEMNDGS QMVRSQESLT FQDVAVDFTR EEWDQLYPAQ KNLYRDVMLE
60 70 80 90 100
NYRNLVALGY QLCKPEVIAQ LELEEEWVIE RDSLLDTHPD GENRPEIKKS
110 120 130 140 150
TTSQNISDEN QTHEMIMERL AGDSFWYSIL GGLWDFDYHP EFNQENHKRY
160 170 180 190 200
LGQVTLTHKK ITQERSLECN KFAENCNLNS NLMQQRIPSI KIPLNSDTQG
210 220 230 240 250
NSIKHNSDLI YYQGNYVRET PYEYSECGKI FNQHILLTDH IHTAEKPSEC
260 270 280 290 300
GKAFSHTSSL SQPQMLLTGE KPYKCDECGK RFSQRIHLIQ HQRIHTGEKP
310 320 330 340 350
FICNGCGKAF RQHSSFTQHL RIHTGEKPYK CNQCGKAFSR ITSLTEHHRL
360 370 380 390 400
HTGEKPYECG FCGKAFSQRT HLNQHERTHT GEKPYKCNEC GKAFSQSAHL
410 420 430
NQHRKIHTRE KLCEYKCEQT VRHSPSFSST
Length:430
Mass (Da):50,172
Last modified:October 1, 2002 - v1
Checksum:i39464BDA005E70DA
GO

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
AK097282 mRNA. Translation: BAC04991.1.
UniGeneiHs.660834.
Hs.733550.
Hs.737301.

Genome annotation databases

EnsembliENST00000633730; ENSP00000487818; ENSG00000178665.
UCSCiuc003trc.2. human.

Keywords - Coding sequence diversityi

Triplet repeat expansion

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK097282 mRNA. Translation: BAC04991.1.
UniGeneiHs.660834.
Hs.733550.
Hs.737301.

3D structure databases

ProteinModelPortaliQ8N859.
SMRiQ8N859.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000416662.

PTM databases

iPTMnetiQ8N859.
PhosphoSitePlusiQ8N859.

Polymorphism and mutation databases

BioMutaiZNF713.
DMDMi74759999.

Proteomic databases

EPDiQ8N859.
MaxQBiQ8N859.
PaxDbiQ8N859.
PeptideAtlasiQ8N859.
PRIDEiQ8N859.

Protocols and materials databases

DNASUi349075.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000633730; ENSP00000487818; ENSG00000178665.
UCSCiuc003trc.2. human.

Organism-specific databases

DisGeNETi349075.
GeneCardsiZNF713.
HGNCiHGNC:22043. ZNF713.
HPAiHPA059425.
HPA062887.
MIMi616181. gene.
neXtProtiNX_Q8N859.
OpenTargetsiENSG00000178665.
PharmGKBiPA143485679.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00840000129852.
HOGENOMiHOG000234617.
HOVERGENiHBG018163.
InParanoidiQ8N859.
OMAiTQGNSIK.
OrthoDBiEOG091G0MBT.
PhylomeDBiQ8N859.
TreeFamiTF337055.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000178665-MONOMER.
ReactomeiR-HSA-212436. Generic Transcription Pathway.

Miscellaneous databases

ChiTaRSiZNF713. human.
PROiQ8N859.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000178665.
CleanExiHS_ZNF713.
ExpressionAtlasiQ8N859. baseline and differential.
GenevisibleiQ8N859. HS.

Family and domain databases

CDDicd07765. KRAB_A-box. 1 hit.
Gene3Di3.30.160.60. 7 hits.
InterProiIPR001909. KRAB.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF01352. KRAB. 1 hit.
PF00096. zf-C2H2. 2 hits.
PF13912. zf-C2H2_6. 1 hit.
[Graphical view]
SMARTiSM00349. KRAB. 1 hit.
SM00355. ZnF_C2H2. 6 hits.
[Graphical view]
SUPFAMiSSF109640. SSF109640. 1 hit.
PROSITEiPS50805. KRAB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 5 hits.
PS50157. ZINC_FINGER_C2H2_2. 6 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiZN713_HUMAN
AccessioniPrimary (citable) accession number: Q8N859
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 2, 2006
Last sequence update: October 1, 2002
Last modified: November 2, 2016
This is version 121 of the entry and version 1 of the sequence. [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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.