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Protein

Zinc finger protein 711

Gene

ZNF711

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

Functioni

Transcription regulator required for brain development. Probably acts as a transcription factor that binds to the promoter of target genes and recruits PHF8 histone demethylase, leading to activate expression of genes involved in neuron development, such as KDM5C.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri383 – 408C2H2-type 1PROSITE-ProRule annotationAdd BLAST26
Zinc fingeri414 – 436C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri476 – 499C2H2-type 3PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri505 – 527C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri533 – 556C2H2-type 5PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri562 – 584C2H2-type 6; degeneratePROSITE-ProRule annotationAdd BLAST23
Zinc fingeri590 – 613C2H2-type 7PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri619 – 641C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri647 – 670C2H2-type 9PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri676 – 698C2H2-type 10PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri704 – 727C2H2-type 11PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri733 – 755C2H2-type 12PROSITE-ProRule annotationAdd BLAST23

GO - Molecular functioni

GO - Biological processi

  • positive regulation of transcription, DNA-templated Source: UniProtKB
  • transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000147180-MONOMER.
ReactomeiR-HSA-212436. Generic Transcription Pathway.

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger protein 711
Alternative name(s):
Zinc finger protein 6
Gene namesi
Name:ZNF711
Synonyms:CMPX1, ZNF6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:13128. ZNF711.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Mental retardation, X-linked, ZNF711-related (MRXZ)1 Publication
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:300803

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNETi7552.
MalaCardsiZNF711.
MIMi300803. phenotype.
OpenTargetsiENSG00000147180.
Orphaneti777. X-linked non-syndromic intellectual disability.
PharmGKBiPA37702.

Polymorphism and mutation databases

BioMutaiZNF711.
DMDMi308153535.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000473291 – 761Zinc finger protein 711Add BLAST761

Proteomic databases

PaxDbiQ9Y462.
PeptideAtlasiQ9Y462.
PRIDEiQ9Y462.

PTM databases

iPTMnetiQ9Y462.
PhosphoSitePlusiQ9Y462.

Expressioni

Tissue specificityi

Expressed in neural tissues.1 Publication

Gene expression databases

BgeeiENSG00000147180.
CleanExiHS_ZNF711.
GenevisibleiQ9Y462. HS.

Organism-specific databases

HPAiHPA030654.

Interactioni

Subunit structurei

Interacts with PHF8.1 Publication

Protein-protein interaction databases

BioGridi113384. 4 interactors.
IntActiQ9Y462. 5 interactors.
STRINGi9606.ENSP00000276123.

Structurei

3D structure databases

ProteinModelPortaliQ9Y462.
SMRiQ9Y462.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Contains 12 C2H2-type zinc fingers.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri383 – 408C2H2-type 1PROSITE-ProRule annotationAdd BLAST26
Zinc fingeri414 – 436C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri476 – 499C2H2-type 3PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri505 – 527C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri533 – 556C2H2-type 5PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri562 – 584C2H2-type 6; degeneratePROSITE-ProRule annotationAdd BLAST23
Zinc fingeri590 – 613C2H2-type 7PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri619 – 641C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri647 – 670C2H2-type 9PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri676 – 698C2H2-type 10PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri704 – 727C2H2-type 11PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri733 – 755C2H2-type 12PROSITE-ProRule annotationAdd BLAST23

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00530000063297.
HOGENOMiHOG000231717.
HOVERGENiHBG000337.
InParanoidiQ9Y462.
OMAiCIFRCAD.
OrthoDBiEOG091G02CA.
PhylomeDBiQ9Y462.
TreeFamiTF335557.

Family and domain databases

Gene3Di3.30.160.60. 7 hits.
InterProiIPR006794. Transcrp_activ_Zfx/Zfy-dom.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF00096. zf-C2H2. 1 hit.
PF04704. Zfx_Zfy_act. 2 hits.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 12 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 6 hits.
PS50157. ZINC_FINGER_C2H2_2. 11 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y462-1) [UniParc]FASTAAdd to basket

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
MDSGGGSLGL HTPDSRMAHT MIMQDFVAGM AGTAHIDGDH IVVSVPEAVL
60 70 80 90 100
VSDVVTDDGI TLDHGLAAEV VHGPDIITET DVVTEGVIVP EAVLEADVAI
110 120 130 140 150
EEDLEEDDGD HILTSELITE TVRVPEQVFV ADLVTGPNGH LEHVVQDCVS
160 170 180 190 200
GVDSPTMVSE EVLVTNSDTE TVIQAAGGVP GSTVTIKTED DDDDDVKSTS
210 220 230 240 250
EDYLMISLDD VGEKLEHMGN TPLKIGSDGS QEDAKEDGFG SEVIKVYIFK
260 270 280 290 300
AEAEDDVEIG GTEIVTESEY TSGHSVAGVL DQSRMQREKM VYMAVKDSSQ
310 320 330 340 350
EEDDIRDERR VSRRYEDCQA SGNTLDSALE SRSSTAAQYL QICDGINTNK
360 370 380 390 400
VLKQKAKKRR RGETRQWQTA VIIGPDGQPL TVYPCHICTK KFKSRGFLKR
410 420 430 440 450
HMKNHPDHLM RKKYQCTDCD FTTNKKVSFH NHLESHKLIN KVDKTHEFTE
460 470 480 490 500
YTRRYREASP LSSNKLILRD KEPKMHKCKY CDYETAEQGL LNRHLLAVHS
510 520 530 540 550
KNFPHVCVEC GKGFRHPSEL KKHMRTHTGE KPYQCQYCIF RCADQSNLKT
560 570 580 590 600
HIKSKHGNNL PYKCEHCPQA FGDERELQRH LDLFQGHKTH QCPHCDHKST
610 620 630 640 650
NSSDLKRHII SVHTKDFPHK CEVCDKGFHR PSELKKHSDI HKGRKIHQCR
660 670 680 690 700
HCDFKTSDPF ILSGHILSVH TKDQPLKCKR CKRGFRQQNE LKKHMKTHTG
710 720 730 740 750
RKIYQCEYCE YSTTDASGFK RHVISIHTKD YPHRCEFCKK GFRRPSEKNQ
760
HIMRHHKEAL M
Length:761
Mass (Da):86,245
Last modified:October 5, 2010 - v2
Checksum:i8E95362C9F008B25
GO
Isoform 2 (identifier: Q9Y462-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     306-321: RDERRVSRRYEDCQAS → SCAEIADEVYMEVIVGEEEGTSLPEIQLEDSDVNKTVVPVVWAAAY

Show »
Length:791
Mass (Da):89,218
Checksum:i305920129ED16E27
GO
Isoform 3 (identifier: Q9Y462-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     306-306: R → SCAEIADEVYMEVIVGEEEGTSLPEIQLEDSDVNKTVVPVVWAAAYG

Note: No experimental confirmation available.
Show »
Length:807
Mass (Da):91,128
Checksum:i4B0FA684E635D721
GO

Sequence cautioni

The sequence BAG61766 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAA39837 differs from that shown. Chimera.Curated
The sequence CAA39837 differs from that shown. Reason: Frameshift at several positions.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti264 – 266IVT → MSP in CAA39837 (PubMed:1923752).Curated3
Sequence conflicti395R → K in CAA39837 (PubMed:1923752).Curated1
Sequence conflicti475 – 476MH → TD in CAA39837 (PubMed:1923752).Curated2
Sequence conflicti577L → P in BAG61766 (PubMed:14702039).Curated1
Sequence conflicti648Q → T in CAA39837 (PubMed:1923752).Curated1
Sequence conflicti666I → L in CAA39837 (PubMed:1923752).Curated1
Sequence conflicti680 – 682RCK → GCT in CAA39837 (PubMed:1923752).Curated3
Sequence conflicti703I → S in CAA39837 (PubMed:1923752).Curated1
Sequence conflicti739K → N in CAA39837 (PubMed:1923752).Curated1
Sequence conflicti754R → K in CAA39837 (PubMed:1923752).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_062990139G → E in an individual affected by mental retardation; unknown pathological role. 1 PublicationCorresponds to variant rs367654949dbSNPEnsembl.1
Natural variantiVAR_062991221T → A.1 PublicationCorresponds to variant rs148609081dbSNPEnsembl.1
Natural variantiVAR_062992274H → R in an individual affected by mental retardation; unknown pathological role. 1 PublicationCorresponds to variant rs777239465dbSNPEnsembl.1
Natural variantiVAR_062993524M → T.1 PublicationCorresponds to variant rs368788919dbSNPEnsembl.1
Natural variantiVAR_062994601N → S in an individual affected by mental retardation; unknown pathological role. 1 PublicationCorresponds to variant rs760346140dbSNPEnsembl.1
Natural variantiVAR_062995622E → D in an individual affected by mental retardation; unknown pathological role. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_016912306 – 321RDERR…DCQAS → SCAEIADEVYMEVIVGEEEG TSLPEIQLEDSDVNKTVVPV VWAAAY in isoform 2. CuratedAdd BLAST16
Alternative sequenceiVSP_039887306R → SCAEIADEVYMEVIVGEEEG TSLPEIQLEDSDVNKTVVPV VWAAAYG in isoform 3. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z82216 Genomic DNA. No translation available.
BC067294 mRNA. Translation: AAH67294.1.
AK299933 mRNA. Translation: BAG61766.1. Different initiation.
X56465 mRNA. Translation: CAA39837.2. Sequence problems.
CCDSiCCDS35344.1. [Q9Y462-1]
CCDS83481.1. [Q9Y462-3]
PIRiS25409.
RefSeqiNP_001317503.1. NM_001330574.1.
NP_068838.3. NM_021998.4. [Q9Y462-1]
XP_005262243.1. XM_005262186.2. [Q9Y462-3]
XP_005262244.1. XM_005262187.1. [Q9Y462-3]
XP_005262245.1. XM_005262188.1. [Q9Y462-3]
XP_005262246.1. XM_005262189.2. [Q9Y462-1]
XP_011529326.1. XM_011531024.1. [Q9Y462-3]
XP_011529328.1. XM_011531026.1. [Q9Y462-1]
XP_016885294.1. XM_017029805.1. [Q9Y462-3]
XP_016885295.1. XM_017029806.1. [Q9Y462-1]
XP_016885296.1. XM_017029807.1. [Q9Y462-1]
XP_016885297.1. XM_017029808.1. [Q9Y462-1]
XP_016885298.1. XM_017029809.1. [Q9Y462-1]
UniGeneiHs.326801.

Genome annotation databases

EnsembliENST00000276123; ENSP00000276123; ENSG00000147180. [Q9Y462-1]
ENST00000360700; ENSP00000353922; ENSG00000147180. [Q9Y462-3]
ENST00000373165; ENSP00000362260; ENSG00000147180. [Q9Y462-1]
GeneIDi7552.
KEGGihsa:7552.
UCSCiuc004eeo.4. human. [Q9Y462-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z82216 Genomic DNA. No translation available.
BC067294 mRNA. Translation: AAH67294.1.
AK299933 mRNA. Translation: BAG61766.1. Different initiation.
X56465 mRNA. Translation: CAA39837.2. Sequence problems.
CCDSiCCDS35344.1. [Q9Y462-1]
CCDS83481.1. [Q9Y462-3]
PIRiS25409.
RefSeqiNP_001317503.1. NM_001330574.1.
NP_068838.3. NM_021998.4. [Q9Y462-1]
XP_005262243.1. XM_005262186.2. [Q9Y462-3]
XP_005262244.1. XM_005262187.1. [Q9Y462-3]
XP_005262245.1. XM_005262188.1. [Q9Y462-3]
XP_005262246.1. XM_005262189.2. [Q9Y462-1]
XP_011529326.1. XM_011531024.1. [Q9Y462-3]
XP_011529328.1. XM_011531026.1. [Q9Y462-1]
XP_016885294.1. XM_017029805.1. [Q9Y462-3]
XP_016885295.1. XM_017029806.1. [Q9Y462-1]
XP_016885296.1. XM_017029807.1. [Q9Y462-1]
XP_016885297.1. XM_017029808.1. [Q9Y462-1]
XP_016885298.1. XM_017029809.1. [Q9Y462-1]
UniGeneiHs.326801.

3D structure databases

ProteinModelPortaliQ9Y462.
SMRiQ9Y462.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113384. 4 interactors.
IntActiQ9Y462. 5 interactors.
STRINGi9606.ENSP00000276123.

PTM databases

iPTMnetiQ9Y462.
PhosphoSitePlusiQ9Y462.

Polymorphism and mutation databases

BioMutaiZNF711.
DMDMi308153535.

Proteomic databases

PaxDbiQ9Y462.
PeptideAtlasiQ9Y462.
PRIDEiQ9Y462.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000276123; ENSP00000276123; ENSG00000147180. [Q9Y462-1]
ENST00000360700; ENSP00000353922; ENSG00000147180. [Q9Y462-3]
ENST00000373165; ENSP00000362260; ENSG00000147180. [Q9Y462-1]
GeneIDi7552.
KEGGihsa:7552.
UCSCiuc004eeo.4. human. [Q9Y462-1]

Organism-specific databases

CTDi7552.
DisGeNETi7552.
GeneCardsiZNF711.
HGNCiHGNC:13128. ZNF711.
HPAiHPA030654.
MalaCardsiZNF711.
MIMi300803. phenotype.
314990. gene.
neXtProtiNX_Q9Y462.
OpenTargetsiENSG00000147180.
Orphaneti777. X-linked non-syndromic intellectual disability.
PharmGKBiPA37702.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00530000063297.
HOGENOMiHOG000231717.
HOVERGENiHBG000337.
InParanoidiQ9Y462.
OMAiCIFRCAD.
OrthoDBiEOG091G02CA.
PhylomeDBiQ9Y462.
TreeFamiTF335557.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000147180-MONOMER.
ReactomeiR-HSA-212436. Generic Transcription Pathway.

Miscellaneous databases

ChiTaRSiZNF711. human.
GenomeRNAii7552.
PROiQ9Y462.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000147180.
CleanExiHS_ZNF711.
GenevisibleiQ9Y462. HS.

Family and domain databases

Gene3Di3.30.160.60. 7 hits.
InterProiIPR006794. Transcrp_activ_Zfx/Zfy-dom.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF00096. zf-C2H2. 1 hit.
PF04704. Zfx_Zfy_act. 2 hits.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 12 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 6 hits.
PS50157. ZINC_FINGER_C2H2_2. 11 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiZN711_HUMAN
AccessioniPrimary (citable) accession number: Q9Y462
Secondary accession number(s): B4DSV4, Q6NX42, Q9Y4J6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: October 5, 2010
Last modified: November 30, 2016
This is version 146 of the entry and version 2 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 X
    Human chromosome X: 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. 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.