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Protein

PHD finger protein 6

Gene

PHF6

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

Transcriptional regulator that associates with ribosomal RNA promoters and suppresses ribosomal RNA (rRNA) transcription.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 fingeri14 – 52C2HC pre-PHD-type 1PROSITE-ProRule annotationAdd BLAST39
Zinc fingeri80 – 132PHD-type 1PROSITE-ProRule annotationAdd BLAST53
Zinc fingeri209 – 249C2HC pre-PHD-type 2PROSITE-ProRule annotationAdd BLAST41
Zinc fingeri278 – 330PHD-type 2PROSITE-ProRule annotationAdd BLAST53

<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

GO - Biological processi

<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

SIGNOR Signaling Network Open Resource

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SIGNORi
Q8IWS0

<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_and_taxonomy_section">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:
PHD finger protein 6
Alternative name(s):
PHD-like zinc finger protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:PHF6
Synonyms:CENP-31, KIAA1823
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 Database Resources

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EuPathDBi
HostDB:ENSG00000156531.16

Human Gene Nomenclature Database

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HGNCi
HGNC:18145 PHF6

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300414 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8IWS0

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Centromere, Chromosome, Kinetochore, 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

Boerjeson-Forssman-Lehmann syndrome (BFLS)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA X-linked recessive disorder characterized by moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.
See also OMIM:301900
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_01763345C → Y in BFLS; Loss of interaction with UBTF. 2 PublicationsCorresponds to variant dbSNP:rs132630299EnsemblClinVar.1
Natural variantiVAR_01763499C → F in BFLS; Loss of interaction with UBTF. 2 PublicationsCorresponds to variant dbSNP:rs132630298EnsemblClinVar.1
Natural variantiVAR_017635229H → R in BFLS. 1 PublicationCorresponds to variant dbSNP:rs104894918EnsemblClinVar.1
Natural variantiVAR_017636234K → E in BFLS. 1 PublicationCorresponds to variant dbSNP:rs104894917EnsemblClinVar.1
Natural variantiVAR_017637257R → G in BFLS. 1 PublicationCorresponds to variant dbSNP:rs104894919EnsemblClinVar.1
Natural variantiVAR_076933305C → F in BFLS. 1 PublicationCorresponds to variant dbSNP:rs587777489EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Epilepsy, Hypotrichosis, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
84295

MalaCards human disease database

More...
MalaCardsi
PHF6
MIMi301900 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000156531

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

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Orphaneti
127 Borjeson-Forssman-Lehmann syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA33263

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PHF6

Domain mapping of disease mutations (DMDM)

More...
DMDMi
42559482

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000592932 – 365PHD finger protein 6Add BLAST364

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylserineCombined sources1
Modified residuei138PhosphoserineCombined sources1
Modified residuei145PhosphoserineCombined sources1
Modified residuei155PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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-linki173Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei183PhosphoserineBy similarity1
Modified residuei199PhosphoserineCombined sources1
Cross-linki227Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei358PhosphothreonineCombined sources1
Isoform 2 (identifier: Q8IWS0-2)
Modified residuei146PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8IWS0

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8IWS0

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

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PaxDbi
Q8IWS0

PeptideAtlas

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PeptideAtlasi
Q8IWS0

PRoteomics IDEntifications database

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PRIDEi
Q8IWS0

ProteomicsDB human proteome resource

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ProteomicsDBi
70885
70886 [Q8IWS0-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8IWS0

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

More...
PhosphoSitePlusi
Q8IWS0

<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

Ubiquitously expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000156531 Expressed in 207 organ(s), highest expression level in female gonad

CleanEx database of gene expression profiles

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CleanExi
HS_PHF6

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8IWS0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8IWS0 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA001023

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with UBTF. Interacts with the NuRD complex component RBBP4 (via the nucleolar localization motif), the interaction mediates transcriptional repression activity.2 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
124022, 47 interactors

Protein interaction database and analysis system

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IntActi
Q8IWS0, 8 interactors

Molecular INTeraction database

More...
MINTi
Q8IWS0

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000329097

<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

Secondary structure

1365
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q8IWS0

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

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SMRi
Q8IWS0

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni14 – 132Extended PHD1 domain (ePHD1)PROSITE-ProRule annotationAdd BLAST119
Regioni209 – 330Extended PHD2 domain (ePHD2)PROSITE-ProRule annotationAdd BLAST122

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi13 – 16Nuclear localization signalSequence analysis4
Motifi129 – 133Nuclear localization signalSequence analysis5
Motifi157 – 169Nucleolar localization signalSequence analysisAdd BLAST13

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The PHD-type zinc finger 1 mediates both nucleolar localization and interaction with UBTF.
The ePHD2 domain folds as an integrated structural module comprizing the C2HC pre-PHD-type 2 zinc finger and the PHD-type 2 zinc finger. It mediates non-specific binding to dsDNA, but doesn't bind histones in contrast to many PHD-type zinc fingers.

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri14 – 52C2HC pre-PHD-type 1PROSITE-ProRule annotationAdd BLAST39
Zinc fingeri80 – 132PHD-type 1PROSITE-ProRule annotationAdd BLAST53
Zinc fingeri209 – 249C2HC pre-PHD-type 2PROSITE-ProRule annotationAdd BLAST41
Zinc fingeri278 – 330PHD-type 2PROSITE-ProRule annotationAdd BLAST53

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IPTE Eukaryota
ENOG410XS42 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00530000063780

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000026798

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG049389

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8IWS0

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8IWS0

TreeFam database of animal gene trees

More...
TreeFami
TF325426

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.30.40.10, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR034732 EPHD
IPR001965 Znf_PHD
IPR013083 Znf_RING/FYVE/PHD

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00249 PHD, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51805 EPHD, 2 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8IWS0-1) [UniParc]FASTAAdd to basket
Also known as: PHF6a, PHF6b

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
MSSSVEQKKG PTRQRKCGFC KSNRDKECGQ LLISENQKVA AHHKCMLFSS
60 70 80 90 100
ALVSSHSDNE SLGGFSIEDV QKEIKRGTKL MCSLCHCPGA TIGCDVKTCH
110 120 130 140 150
RTYHYHCALH DKAQIREKPS QGIYMVYCRK HKKTAHNSEA DLEESFNEHE
160 170 180 190 200
LEPSSPKSKK KSRKGRPRKT NFKGLSEDTR STSSHGTDEM ESSSYRDRSP
210 220 230 240 250
HRSSPSDTRP KCGFCHVGEE ENEARGKLHI FNAKKAAAHY KCMLFSSGTV
260 270 280 290 300
QLTTTSRAEF GDFDIKTVLQ EIKRGKRMKC TLCSQPGATI GCEIKACVKT
310 320 330 340 350
YHYHCGVQDK AKYIENMSRG IYKLYCKNHS GNDERDEEDE ERESKSRGKV
360
EIDQQQLTQQ QLNGN
Length:365
Mass (Da):41,290
Last modified:March 1, 2003 - v1
<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:iE8E587909EF9701D
GO
Isoform 2 (identifier: Q8IWS0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     140-140: A → AA
     279-311: KCTLCSQPGATIGCEIKACVKTYHYHCGVQDKA → VCSFYICYATLHLICCFKFRVHPKFIQSSENLK
     312-365: Missing.

Note: No experimental confirmation available.Combined sources
Show »
Length:312
Mass (Da):35,329
Checksum:i107F45F45063D7A0
GO
Isoform 3 (identifier: Q8IWS0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     140-140: Missing.

Note: No experimental confirmation available.
Show »
Length:364
Mass (Da):41,219
Checksum:i2BEB117AF92F7ECC
GO
Isoform 4 (identifier: Q8IWS0-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     140-140: Missing.
     279-311: KCTLCSQPGATIGCEIKACVKTYHYHCGVQDKA → VCSFYICYATLHLICCFKFRVHPKFIQSSENLK
     312-365: Missing.

Note: No experimental confirmation available.
Show »
Length:310
Mass (Da):35,187
Checksum:iB6091E6AC014F78A
GO
Isoform 5 (identifier: Q8IWS0-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     47-80: Missing.

Note: No experimental confirmation available.
Show »
Length:331
Mass (Da):37,628
Checksum:iCA296A2F39167444
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5JRC6Q5JRC6_HUMAN
PHD finger protein 6, isoform CRA_d
PHF6 hCG_1783600
324Annotation score:

Annotation score:2 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>
A0A0D9SGE8A0A0D9SGE8_HUMAN
PHD finger protein 6
PHF6
366Annotation score:

Annotation score:1 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>

<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 BAB47452 differs from that shown. Reason: Erroneous initiation.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 conflicti126V → A in AAH05994 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01763345C → Y in BFLS; Loss of interaction with UBTF. 2 PublicationsCorresponds to variant dbSNP:rs132630299EnsemblClinVar.1
Natural variantiVAR_01763499C → F in BFLS; Loss of interaction with UBTF. 2 PublicationsCorresponds to variant dbSNP:rs132630298EnsemblClinVar.1
Natural variantiVAR_017635229H → R in BFLS. 1 PublicationCorresponds to variant dbSNP:rs104894918EnsemblClinVar.1
Natural variantiVAR_017636234K → E in BFLS. 1 PublicationCorresponds to variant dbSNP:rs104894917EnsemblClinVar.1
Natural variantiVAR_017637257R → G in BFLS. 1 PublicationCorresponds to variant dbSNP:rs104894919EnsemblClinVar.1
Natural variantiVAR_076933305C → F in BFLS. 1 PublicationCorresponds to variant dbSNP:rs587777489EnsemblClinVar.1

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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_05493747 – 80Missing in isoform 5. 1 PublicationAdd BLAST34
Alternative sequenceiVSP_009372140A → AA in isoform 2. 1 Publication1
Alternative sequenceiVSP_053441140Missing in isoform 3 and isoform 4. 1 Publication1
Alternative sequenceiVSP_009373279 – 311KCTLC…VQDKA → VCSFYICYATLHLICCFKFR VHPKFIQSSENLK in isoform 2 and isoform 4. 2 PublicationsAdd BLAST33
Alternative sequenceiVSP_009374312 – 365Missing in isoform 2 and isoform 4. 2 PublicationsAdd BLAST54

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AY157622 mRNA Translation: AAO13214.1
AB058726 mRNA Translation: BAB47452.1 Different initiation.
AK290095 mRNA Translation: BAF82784.1
AK303369 mRNA Translation: BAG64426.1
AC004383 Genomic DNA No translation available.
AL591668 Genomic DNA No translation available.
CH471107 Genomic DNA Translation: EAX11762.1
CH471107 Genomic DNA Translation: EAX11763.1
CH471107 Genomic DNA Translation: EAX11766.1
BC005994 mRNA Translation: AAH05994.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS14639.1 [Q8IWS0-1]
CCDS14640.1 [Q8IWS0-2]

NCBI Reference Sequences

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RefSeqi
NP_001015877.1, NM_001015877.1 [Q8IWS0-1]
NP_115711.2, NM_032335.3 [Q8IWS0-2]
NP_115834.1, NM_032458.2 [Q8IWS0-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.356501

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000332070; ENSP00000329097; ENSG00000156531 [Q8IWS0-1]
ENST00000370800; ENSP00000359836; ENSG00000156531 [Q8IWS0-2]
ENST00000370803; ENSP00000359839; ENSG00000156531 [Q8IWS0-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
84295

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:84295

UCSC genome browser

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UCSCi
uc004exh.4 human [Q8IWS0-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AY157622 mRNA Translation: AAO13214.1
AB058726 mRNA Translation: BAB47452.1 Different initiation.
AK290095 mRNA Translation: BAF82784.1
AK303369 mRNA Translation: BAG64426.1
AC004383 Genomic DNA No translation available.
AL591668 Genomic DNA No translation available.
CH471107 Genomic DNA Translation: EAX11762.1
CH471107 Genomic DNA Translation: EAX11763.1
CH471107 Genomic DNA Translation: EAX11766.1
BC005994 mRNA Translation: AAH05994.1
CCDSiCCDS14639.1 [Q8IWS0-1]
CCDS14640.1 [Q8IWS0-2]
RefSeqiNP_001015877.1, NM_001015877.1 [Q8IWS0-1]
NP_115711.2, NM_032335.3 [Q8IWS0-2]
NP_115834.1, NM_032458.2 [Q8IWS0-1]
UniGeneiHs.356501

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4NN2X-ray1.47A/B208-333[»]
4R7AX-ray1.85A157-171[»]
ProteinModelPortaliQ8IWS0
SMRiQ8IWS0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124022, 47 interactors
IntActiQ8IWS0, 8 interactors
MINTiQ8IWS0
STRINGi9606.ENSP00000329097

PTM databases

iPTMnetiQ8IWS0
PhosphoSitePlusiQ8IWS0

Polymorphism and mutation databases

BioMutaiPHF6
DMDMi42559482

Proteomic databases

EPDiQ8IWS0
MaxQBiQ8IWS0
PaxDbiQ8IWS0
PeptideAtlasiQ8IWS0
PRIDEiQ8IWS0
ProteomicsDBi70885
70886 [Q8IWS0-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
84295
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000332070; ENSP00000329097; ENSG00000156531 [Q8IWS0-1]
ENST00000370800; ENSP00000359836; ENSG00000156531 [Q8IWS0-2]
ENST00000370803; ENSP00000359839; ENSG00000156531 [Q8IWS0-1]
GeneIDi84295
KEGGihsa:84295
UCSCiuc004exh.4 human [Q8IWS0-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
84295
DisGeNETi84295
EuPathDBiHostDB:ENSG00000156531.16

GeneCards: human genes, protein and diseases

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GeneCardsi
PHF6
HGNCiHGNC:18145 PHF6
HPAiHPA001023
MalaCardsiPHF6
MIMi300414 gene
301900 phenotype
neXtProtiNX_Q8IWS0
OpenTargetsiENSG00000156531
Orphaneti127 Borjeson-Forssman-Lehmann syndrome
PharmGKBiPA33263

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IPTE Eukaryota
ENOG410XS42 LUCA
GeneTreeiENSGT00530000063780
HOGENOMiHOG000026798
HOVERGENiHBG049389
InParanoidiQ8IWS0
PhylomeDBiQ8IWS0
TreeFamiTF325426

Enzyme and pathway databases

SIGNORiQ8IWS0

Miscellaneous databases

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

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ChiTaRSi
PHF6 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PHF6

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

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GenomeRNAii
84295

Protein Ontology

More...
PROi
PR:Q8IWS0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000156531 Expressed in 207 organ(s), highest expression level in female gonad
CleanExiHS_PHF6
ExpressionAtlasiQ8IWS0 baseline and differential
GenevisibleiQ8IWS0 HS

Family and domain databases

Gene3Di3.30.40.10, 2 hits
InterProiView protein in InterPro
IPR034732 EPHD
IPR001965 Znf_PHD
IPR013083 Znf_RING/FYVE/PHD
SMARTiView protein in SMART
SM00249 PHD, 2 hits
PROSITEiView protein in PROSITE
PS51805 EPHD, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiPHF6_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: Q8IWS0
Secondary accession number(s): A8K230
, B4E0G4, D3DTG3, E9PC97, Q5JRC7, Q5JRC8, Q96JK3, Q9BRU0
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 16, 2004
Last sequence update: March 1, 2003
Last modified: December 5, 2018
This is version 151 of the entry and version 1 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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