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Protein

Zinc finger protein 713

Gene

ZNF713

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000178665.14
HGNCiHGNC:22043 ZNF713
MIMi616181 gene
neXtProtiNX_Q8N859

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

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).1 Publication

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

BioGridi131546, 1 interactor
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

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
GeneTreeiENSGT00910000144215
HOGENOMiHOG000234617
HOVERGENiHBG018163
InParanoidiQ8N859
OrthoDBiEOG091G0MBT
PhylomeDBiQ8N859
TreeFamiTF337055

Family and domain databases

CDDicd07765 KRAB_A-box, 1 hit
InterProiView protein in InterPro
IPR001909 KRAB
IPR036051 KRAB_dom_sf
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF01352 KRAB, 1 hit
SMARTiView protein in SMART
SM00349 KRAB, 1 hit
SM00355 ZnF_C2H2, 6 hits
SUPFAMiSSF109640 SSF109640, 1 hit
SSF57667 SSF57667, 4 hits
PROSITEiView protein in PROSITE
PS50805 KRAB, 1 hit
PS00028 ZINC_FINGER_C2H2_1, 5 hits
PS50157 ZINC_FINGER_C2H2_2, 6 hits

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

Similar proteinsi

Entry informationi

Entry nameiZN713_HUMAN
AccessioniPrimary (citable) accession number: Q8N859
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2006
Last sequence update: October 1, 2002
Last modified: March 28, 2018
This is version 132 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

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health