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UniProtKB - Q9Y462 (ZN711_HUMAN)

Entry version 179 (02 Dec 2020)
Sequence version 2 (05 Oct 2010)
Previous versions | rss
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9Y462

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-212436, Generic Transcription Pathway

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Zinc finger protein 711
Alternative name(s):
Zinc finger protein 6
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ZNF711
Synonyms:CMPX1, ZNF6
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000147180.16

Human Gene Nomenclature Database

More...HGNCi		HGNC:13128, ZNF711

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		314990, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9Y462

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_062990139G → E in MRX97; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs367654949Ensembl.1
Natural variantiVAR_078572244I → T in MRX97. 1 PublicationCorresponds to variant dbSNP:rs1060505033EnsemblClinVar.1
Natural variantiVAR_062992274H → R in MRX97; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs777239465Ensembl.1
Natural variantiVAR_062994601N → S in MRX97; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs760346140EnsemblClinVar.1
Natural variantiVAR_062995622E → D in MRX97; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		7552

MalaCards human disease database

More...MalaCardsi		ZNF711
MIMi300803, phenotype

Open Targets

More...OpenTargetsi		ENSG00000147180

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		777, X-linked non-syndromic intellectual disability

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA37702

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9Y462, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ZNF711

Domain mapping of disease mutations (DMDM)

More...DMDMi		308153535

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000473291 – 761Zinc finger protein 711Add BLAST761

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki224Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki235Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki296Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9Y462

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9Y462

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9Y462

PeptideAtlas

More...PeptideAtlasi		Q9Y462

PRoteomics IDEntifications database

More...PRIDEi		Q9Y462

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		86107 [Q9Y462-1]
86108 [Q9Y462-2]
86109 [Q9Y462-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9Y462

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9Y462

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in neural tissues.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000147180, Expressed in neocortex and 200 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9Y462, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000147180, Tissue enhanced (testis)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with PHF8.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		113384, 7 interactors

Protein interaction database and analysis system

More...IntActi		Q9Y462, 5 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000362260

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9Y462, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9Y462

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the krueppel C2H2-type zinc-finger protein family.Curated

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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1721, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000159611

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_021097_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9Y462

Identification of Orthologs from Complete Genome Data

More...OMAi		CGHCPQA

Database of Orthologous Groups

More...OrthoDBi		1318335at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9Y462

TreeFam database of animal gene trees

More...TreeFami		TF335557

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR006794, Transcrp_activ_Zfx/Zfy-dom
IPR036236, Znf_C2H2_sf
IPR013087, Znf_C2H2_type

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00096, zf-C2H2, 6 hits
PF04704, Zfx_Zfy_act, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00355, ZnF_C2H2, 12 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF57667, SSF57667, 6 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00028, ZINC_FINGER_C2H2_1, 6 hits
PS50157, ZINC_FINGER_C2H2_2, 11 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9Y462-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

Show »
Length:807
Mass (Da):91,128
Checksum:i4B0FA684E635D721
GO

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAG61766 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence CAA39837 differs from that shown. Chimera.Curated
The sequence CAA39837 differs from that shown. Reason: Frameshift.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 MRX97; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs367654949Ensembl.1
Natural variantiVAR_062991221T → A1 PublicationCorresponds to variant dbSNP:rs148609081Ensembl.1
Natural variantiVAR_078572244I → T in MRX97. 1 PublicationCorresponds to variant dbSNP:rs1060505033EnsemblClinVar.1
Natural variantiVAR_062992274H → R in MRX97; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs777239465Ensembl.1
Natural variantiVAR_062993524M → T1 PublicationCorresponds to variant dbSNP:rs368788919Ensembl.1
Natural variantiVAR_062994601N → S in MRX97; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs760346140EnsemblClinVar.1
Natural variantiVAR_062995622E → D in MRX97; unknown pathological significance. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS35344.1 [Q9Y462-1]
CCDS83481.1 [Q9Y462-3]

Protein sequence database of the Protein Information Resource

More...PIRi		S25409

NCBI Reference Sequences

More...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

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000276123; ENSP00000276123; ENSG00000147180 [Q9Y462-1]
ENST00000360700; ENSP00000353922; ENSG00000147180 [Q9Y462-3]
ENST00000373165; ENSP00000362260; ENSG00000147180 [Q9Y462-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		7552

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:7552

UCSC genome browser

More...UCSCi		uc004eeo.4, human [Q9Y462-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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 [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

SMRiQ9Y462
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi113384, 7 interactors
IntActiQ9Y462, 5 interactors
STRINGi9606.ENSP00000362260

PTM databases

iPTMnetiQ9Y462
PhosphoSitePlusiQ9Y462

Polymorphism and mutation databases

BioMutaiZNF711
DMDMi308153535

Proteomic databases

jPOSTiQ9Y462
MassIVEiQ9Y462
PaxDbiQ9Y462
PeptideAtlasiQ9Y462
PRIDEiQ9Y462
ProteomicsDBi86107 [Q9Y462-1]
86108 [Q9Y462-2]
86109 [Q9Y462-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		44077, 49 antibodies

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

Comparative Toxicogenomics Database

More...CTDi		7552
DisGeNETi7552
EuPathDBiHostDB:ENSG00000147180.16

GeneCards: human genes, protein and diseases

More...GeneCardsi		ZNF711
HGNCiHGNC:13128, ZNF711
HPAiENSG00000147180, Tissue enhanced (testis)
MalaCardsiZNF711
MIMi300803, phenotype
314990, gene
neXtProtiNX_Q9Y462
OpenTargetsiENSG00000147180
Orphaneti777, X-linked non-syndromic intellectual disability
PharmGKBiPA37702

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1721, Eukaryota
GeneTreeiENSGT00940000159611
HOGENOMiCLU_021097_0_0_1
InParanoidiQ9Y462
OMAiCGHCPQA
OrthoDBi1318335at2759
PhylomeDBiQ9Y462
TreeFamiTF335557

Enzyme and pathway databases

PathwayCommonsiQ9Y462
ReactomeiR-HSA-212436, Generic Transcription Pathway

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		7552, 4 hits in 492 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		ZNF711, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		7552
PharosiQ9Y462, Tbio

Protein Ontology

More...PROi		PR:Q9Y462
RNActiQ9Y462, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000147180, Expressed in neocortex and 200 other tissues
GenevisibleiQ9Y462, HS

Family and domain databases

InterProiView protein in InterPro
IPR006794, Transcrp_activ_Zfx/Zfy-dom
IPR036236, Znf_C2H2_sf
IPR013087, Znf_C2H2_type
PfamiView protein in Pfam
PF00096, zf-C2H2, 6 hits
PF04704, Zfx_Zfy_act, 2 hits
SMARTiView protein in SMART
SM00355, ZnF_C2H2, 12 hits
SUPFAMiSSF57667, SSF57667, 6 hits
PROSITEiView protein in PROSITE
PS00028, ZINC_FINGER_C2H2_1, 6 hits
PS50157, ZINC_FINGER_C2H2_2, 11 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiZN711_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Y462
Secondary accession number(s): B4DSV4, Q6NX42, Q9Y4J6
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  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
  4. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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