UniProtKB - Q9Y462 (ZN711_HUMAN)
Protein
Zinc finger protein 711
Gene
ZNF711
Organism
Homo sapiens (Human)
Status
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 383 – 408 | C2H2-type 1PROSITE-ProRule annotationAdd BLAST | 26 | |
Zinc fingeri | 414 – 436 | C2H2-type 2PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 476 – 499 | C2H2-type 3PROSITE-ProRule annotationAdd BLAST | 24 | |
Zinc fingeri | 505 – 527 | C2H2-type 4PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 533 – 556 | C2H2-type 5PROSITE-ProRule annotationAdd BLAST | 24 | |
Zinc fingeri | 562 – 584 | C2H2-type 6; degeneratePROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 590 – 613 | C2H2-type 7PROSITE-ProRule annotationAdd BLAST | 24 | |
Zinc fingeri | 619 – 641 | C2H2-type 8PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 647 – 670 | C2H2-type 9PROSITE-ProRule annotationAdd BLAST | 24 | |
Zinc fingeri | 676 – 698 | C2H2-type 10PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 704 – 727 | C2H2-type 11PROSITE-ProRule annotationAdd BLAST | 24 | |
Zinc fingeri | 733 – 755 | C2H2-type 12PROSITE-ProRule annotationAdd BLAST | 23 |
GO - Molecular functioni
- histone methyltransferase activity Source: GO_Central
- histone methyltransferase activity (H3-K36 specific) Source: GO_Central
- histone methyltransferase activity (H3-K4 specific) Source: GO_Central
- metal ion binding Source: UniProtKB-KW
- sequence-specific DNA binding Source: UniProtKB
GO - Biological processi
- positive regulation of reciprocal meiotic recombination Source: GO_Central
- positive regulation of transcription, DNA-templated Source: UniProtKB
- regulation of gene expression Source: GO_Central
Keywordsi
Molecular function | DNA-binding |
Biological process | Transcription, Transcription regulation |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q9Y462 |
Reactomei | R-HSA-212436, Generic Transcription Pathway |
Names & Taxonomyi
Protein namesi | Recommended name: Zinc finger protein 711Alternative name(s): Zinc finger protein 6 |
Gene namesi | Name:ZNF711 Synonyms:CMPX1, ZNF6 |
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
EuPathDBi | HostDB:ENSG00000147180.16 |
HGNCi | HGNC:13128, ZNF711 |
MIMi | 314990, gene |
neXtProti | NX_Q9Y462 |
Subcellular locationi
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Mental retardation, X-linked 97 (MRX97)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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_062990 | 139 | G → E in MRX97; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs367654949Ensembl. | 1 | |
Natural variantiVAR_078572 | 244 | I → T in MRX97. 1 PublicationCorresponds to variant dbSNP:rs1060505033EnsemblClinVar. | 1 | |
Natural variantiVAR_062992 | 274 | H → R in MRX97; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs777239465Ensembl. | 1 | |
Natural variantiVAR_062994 | 601 | N → S in MRX97; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs760346140EnsemblClinVar. | 1 | |
Natural variantiVAR_062995 | 622 | E → D in MRX97; unknown pathological significance. 1 Publication | 1 |
Keywords - Diseasei
Mental retardationOrganism-specific databases
DisGeNETi | 7552 |
MalaCardsi | ZNF711 |
MIMi | 300803, phenotype |
OpenTargetsi | ENSG00000147180 |
Orphaneti | 777, X-linked non-syndromic intellectual disability |
PharmGKBi | PA37702 |
Miscellaneous databases
Pharosi | Q9Y462, Tbio |
Polymorphism and mutation databases
BioMutai | ZNF711 |
DMDMi | 308153535 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000047329 | 1 – 761 | Zinc finger protein 711Add BLAST | 761 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Cross-linki | 224 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 235 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 296 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources |
Keywords - PTMi
Isopeptide bond, Ubl conjugationProteomic databases
jPOSTi | Q9Y462 |
MassIVEi | Q9Y462 |
PaxDbi | Q9Y462 |
PeptideAtlasi | Q9Y462 |
PRIDEi | Q9Y462 |
ProteomicsDBi | 86107 [Q9Y462-1] 86108 [Q9Y462-2] 86109 [Q9Y462-3] |
PTM databases
iPTMneti | Q9Y462 |
PhosphoSitePlusi | Q9Y462 |
Expressioni
Tissue specificityi
Expressed in neural tissues.1 Publication
Gene expression databases
Bgeei | ENSG00000147180, Expressed in neocortex and 200 other tissues |
Genevisiblei | Q9Y462, HS |
Organism-specific databases
HPAi | ENSG00000147180, Tissue enhanced (testis) |
Interactioni
Subunit structurei
Interacts with PHF8.
1 PublicationProtein-protein interaction databases
BioGRIDi | 113384, 7 interactors |
IntActi | Q9Y462, 5 interactors |
STRINGi | 9606.ENSP00000362260 |
Miscellaneous databases
RNActi | Q9Y462, protein |
Family & Domainsi
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 | 383 – 408 | C2H2-type 1PROSITE-ProRule annotationAdd BLAST | 26 | |
Zinc fingeri | 414 – 436 | C2H2-type 2PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 476 – 499 | C2H2-type 3PROSITE-ProRule annotationAdd BLAST | 24 | |
Zinc fingeri | 505 – 527 | C2H2-type 4PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 533 – 556 | C2H2-type 5PROSITE-ProRule annotationAdd BLAST | 24 | |
Zinc fingeri | 562 – 584 | C2H2-type 6; degeneratePROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 590 – 613 | C2H2-type 7PROSITE-ProRule annotationAdd BLAST | 24 | |
Zinc fingeri | 619 – 641 | C2H2-type 8PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 647 – 670 | C2H2-type 9PROSITE-ProRule annotationAdd BLAST | 24 | |
Zinc fingeri | 676 – 698 | C2H2-type 10PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 704 – 727 | C2H2-type 11PROSITE-ProRule annotationAdd BLAST | 24 | |
Zinc fingeri | 733 – 755 | C2H2-type 12PROSITE-ProRule annotationAdd BLAST | 23 |
Keywords - Domaini
Repeat, Zinc-fingerPhylogenomic databases
eggNOGi | KOG1721, Eukaryota |
GeneTreei | ENSGT00940000159611 |
HOGENOMi | CLU_021097_0_0_1 |
InParanoidi | Q9Y462 |
OMAi | CGHCPQA |
OrthoDBi | 1318335at2759 |
PhylomeDBi | Q9Y462 |
TreeFami | TF335557 |
Family and domain databases
InterProi | View protein in InterPro IPR006794, Transcrp_activ_Zfx/Zfy-dom IPR036236, Znf_C2H2_sf IPR013087, Znf_C2H2_type |
Pfami | View protein in Pfam PF00096, zf-C2H2, 6 hits PF04704, Zfx_Zfy_act, 2 hits |
SMARTi | View protein in SMART SM00355, ZnF_C2H2, 12 hits |
SUPFAMi | SSF57667, SSF57667, 6 hits |
PROSITEi | View protein in PROSITE PS00028, ZINC_FINGER_C2H2_1, 6 hits PS50157, ZINC_FINGER_C2H2_2, 11 hits |
s (3)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q9Y462-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Sequence cautioni
The sequence BAG61766 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence CAA39837 differs from that shown. Reason: Frameshift.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 264 – 266 | IVT → MSP in CAA39837 (PubMed:1923752).Curated | 3 | |
Sequence conflicti | 395 | R → K in CAA39837 (PubMed:1923752).Curated | 1 | |
Sequence conflicti | 475 – 476 | MH → TD in CAA39837 (PubMed:1923752).Curated | 2 | |
Sequence conflicti | 577 | L → P in BAG61766 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 648 | Q → T in CAA39837 (PubMed:1923752).Curated | 1 | |
Sequence conflicti | 666 | I → L in CAA39837 (PubMed:1923752).Curated | 1 | |
Sequence conflicti | 680 – 682 | RCK → GCT in CAA39837 (PubMed:1923752).Curated | 3 | |
Sequence conflicti | 703 | I → S in CAA39837 (PubMed:1923752).Curated | 1 | |
Sequence conflicti | 739 | K → N in CAA39837 (PubMed:1923752).Curated | 1 | |
Sequence conflicti | 754 | R → K in CAA39837 (PubMed:1923752).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_062990 | 139 | G → E in MRX97; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs367654949Ensembl. | 1 | |
Natural variantiVAR_062991 | 221 | T → A1 PublicationCorresponds to variant dbSNP:rs148609081Ensembl. | 1 | |
Natural variantiVAR_078572 | 244 | I → T in MRX97. 1 PublicationCorresponds to variant dbSNP:rs1060505033EnsemblClinVar. | 1 | |
Natural variantiVAR_062992 | 274 | H → R in MRX97; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs777239465Ensembl. | 1 | |
Natural variantiVAR_062993 | 524 | M → T1 PublicationCorresponds to variant dbSNP:rs368788919Ensembl. | 1 | |
Natural variantiVAR_062994 | 601 | N → S in MRX97; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs760346140EnsemblClinVar. | 1 | |
Natural variantiVAR_062995 | 622 | E → D in MRX97; unknown pathological significance. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_016912 | 306 – 321 | RDERR…DCQAS → SCAEIADEVYMEVIVGEEEG TSLPEIQLEDSDVNKTVVPV VWAAAY in isoform 2. CuratedAdd BLAST | 16 | |
Alternative sequenceiVSP_039887 | 306 | R → SCAEIADEVYMEVIVGEEEG TSLPEIQLEDSDVNKTVVPV VWAAAYG in isoform 3. 1 Publication | 1 |
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. |
CCDSi | CCDS35344.1 [Q9Y462-1] CCDS83481.1 [Q9Y462-3] |
PIRi | S25409 |
RefSeqi | NP_001317503.1, NM_001330574.1 [Q9Y462-3] NP_068838.3, NM_021998.4 [Q9Y462-1] XP_005262243.1, XM_005262186.2 XP_005262244.1, XM_005262187.1 [Q9Y462-3] XP_005262245.1, XM_005262188.1 [Q9Y462-3] XP_005262246.1, XM_005262189.2 XP_011529326.1, XM_011531024.1 XP_011529328.1, XM_011531026.1 XP_016885294.1, XM_017029805.1 XP_016885295.1, XM_017029806.1 XP_016885296.1, XM_017029807.1 XP_016885297.1, XM_017029808.1 XP_016885298.1, XM_017029809.1 [Q9Y462-1] |
Genome annotation databases
Ensembli | ENST00000276123; ENSP00000276123; ENSG00000147180 [Q9Y462-1] ENST00000360700; ENSP00000353922; ENSG00000147180 [Q9Y462-3] ENST00000373165; ENSP00000362260; ENSG00000147180 [Q9Y462-1] |
GeneIDi | 7552 |
KEGGi | hsa:7552 |
UCSCi | uc004eeo.4, human [Q9Y462-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
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. |
CCDSi | CCDS35344.1 [Q9Y462-1] CCDS83481.1 [Q9Y462-3] |
PIRi | S25409 |
RefSeqi | NP_001317503.1, NM_001330574.1 [Q9Y462-3] NP_068838.3, NM_021998.4 [Q9Y462-1] XP_005262243.1, XM_005262186.2 XP_005262244.1, XM_005262187.1 [Q9Y462-3] XP_005262245.1, XM_005262188.1 [Q9Y462-3] XP_005262246.1, XM_005262189.2 XP_011529326.1, XM_011531024.1 XP_011529328.1, XM_011531026.1 XP_016885294.1, XM_017029805.1 XP_016885295.1, XM_017029806.1 XP_016885296.1, XM_017029807.1 XP_016885297.1, XM_017029808.1 XP_016885298.1, XM_017029809.1 [Q9Y462-1] |
3D structure databases
SMRi | Q9Y462 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 113384, 7 interactors |
IntActi | Q9Y462, 5 interactors |
STRINGi | 9606.ENSP00000362260 |
PTM databases
iPTMneti | Q9Y462 |
PhosphoSitePlusi | Q9Y462 |
Polymorphism and mutation databases
BioMutai | ZNF711 |
DMDMi | 308153535 |
Proteomic databases
jPOSTi | Q9Y462 |
MassIVEi | Q9Y462 |
PaxDbi | Q9Y462 |
PeptideAtlasi | Q9Y462 |
PRIDEi | Q9Y462 |
ProteomicsDBi | 86107 [Q9Y462-1] 86108 [Q9Y462-2] 86109 [Q9Y462-3] |
Protocols and materials databases
Antibodypediai | 44077, 49 antibodies |
Genome annotation databases
Ensembli | ENST00000276123; ENSP00000276123; ENSG00000147180 [Q9Y462-1] ENST00000360700; ENSP00000353922; ENSG00000147180 [Q9Y462-3] ENST00000373165; ENSP00000362260; ENSG00000147180 [Q9Y462-1] |
GeneIDi | 7552 |
KEGGi | hsa:7552 |
UCSCi | uc004eeo.4, human [Q9Y462-1] |
Organism-specific databases
CTDi | 7552 |
DisGeNETi | 7552 |
EuPathDBi | HostDB:ENSG00000147180.16 |
GeneCardsi | ZNF711 |
HGNCi | HGNC:13128, ZNF711 |
HPAi | ENSG00000147180, Tissue enhanced (testis) |
MalaCardsi | ZNF711 |
MIMi | 300803, phenotype 314990, gene |
neXtProti | NX_Q9Y462 |
OpenTargetsi | ENSG00000147180 |
Orphaneti | 777, X-linked non-syndromic intellectual disability |
PharmGKBi | PA37702 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1721, Eukaryota |
GeneTreei | ENSGT00940000159611 |
HOGENOMi | CLU_021097_0_0_1 |
InParanoidi | Q9Y462 |
OMAi | CGHCPQA |
OrthoDBi | 1318335at2759 |
PhylomeDBi | Q9Y462 |
TreeFami | TF335557 |
Enzyme and pathway databases
PathwayCommonsi | Q9Y462 |
Reactomei | R-HSA-212436, Generic Transcription Pathway |
Miscellaneous databases
BioGRID-ORCSi | 7552, 4 hits in 492 CRISPR screens |
ChiTaRSi | ZNF711, human |
GenomeRNAii | 7552 |
Pharosi | Q9Y462, Tbio |
PROi | PR:Q9Y462 |
RNActi | Q9Y462, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000147180, Expressed in neocortex and 200 other tissues |
Genevisiblei | Q9Y462, HS |
Family and domain databases
InterProi | View protein in InterPro IPR006794, Transcrp_activ_Zfx/Zfy-dom IPR036236, Znf_C2H2_sf IPR013087, Znf_C2H2_type |
Pfami | View protein in Pfam PF00096, zf-C2H2, 6 hits PF04704, Zfx_Zfy_act, 2 hits |
SMARTi | View protein in SMART SM00355, ZnF_C2H2, 12 hits |
SUPFAMi | SSF57667, SSF57667, 6 hits |
PROSITEi | View protein in PROSITE PS00028, ZINC_FINGER_C2H2_1, 6 hits PS50157, ZINC_FINGER_C2H2_2, 11 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ZN711_HUMAN | |
Accessioni | Q9Y462Primary (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: | December 2, 2020 | |
This is version 179 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 polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations