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UniProtKB - Q96BD5 (PF21A_HUMAN)

Entry version 168 (12 Aug 2020)
Sequence version 1 (01 Dec 2001)
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Protein

PHD finger protein 21A

Gene

PHF21A

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

Component of the BHC complex, a corepressor complex that represses transcription of neuron-specific genes in non-neuronal cells. The BHC complex is recruited at RE1/NRSE sites by REST and acts by deacetylating and demethylating specific sites on histones, thereby acting as a chromatin modifier. In the BHC complex, it may act as a scaffold. Inhibits KDM1A-mediated demethylation of 'Lys-4' of histone H3 in vitro, suggesting a role in demethylation regulation.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 and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi425 – 437A.T hookAdd BLAST13
<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 fingeri488 – 535PHD-typePROSITE-ProRule annotationAdd BLAST48

<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 functionChromatin regulator, DNA-binding, Repressor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q96BD5

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-3214815, HDACs deacetylate histones
R-HSA-983231, Factors involved in megakaryocyte development and platelet production

<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:
PHD finger protein 21A
Alternative name(s):
BHC80a
BRAF35-HDAC complex protein BHC80
<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:PHF21A
Synonyms:BHC80, KIAA1696
ORF Names:BM-006
<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 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000135365.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:24156, PHF21A

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608325, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96BD5

<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

Neurodevelopmental disorder with macrocephaly and with or without seizures (NEDMS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant neurodevelopmental disorder characterized by impaired intellectual development, developmental delay of varying severity, impaired motor skills and language delay. Additional clinical features include macrocephaly, obesity, overgrowth, craniofacial dysmorphism, epilepsy, and variable behavioral manifestations including autism and attention deficit hyperactivity disorder.
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_083199429G → S in NEDMS; unknown pathological significance. 1 Publication1
Natural variantiVAR_083200580 – 680Missing in NEDMS. 2 PublicationsAdd BLAST101

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		51317

MalaCards human disease database

More...MalaCardsi		PHF21A
MIMi618725, phenotype

Open Targets

More...OpenTargetsi		ENSG00000135365

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

More...Orphaneti		52022, Potocki-Shaffer syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134977844

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96BD5, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PHF21A

Domain mapping of disease mutations (DMDM)

More...DMDMi		74731224

<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_00002267671 – 680PHD finger protein 21AAdd BLAST680

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-linki65Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
<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 residuei350PhosphothreonineCombined sources1
Modified residuei444PhosphothreonineCombined sources1
Modified residuei447PhosphoserineCombined sources1

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q96BD5

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q96BD5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96BD5

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q96BD5

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

More...PaxDbi		Q96BD5

PeptideAtlas

More...PeptideAtlasi		Q96BD5

PRoteomics IDEntifications database

More...PRIDEi		Q96BD5

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		76065 [Q96BD5-1]
76066 [Q96BD5-2]
76067 [Q96BD5-3]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q96BD5, 2 sites, 1 O-linked glycan (2 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96BD5

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

More...PhosphoSitePlusi		Q96BD5

<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

Highly expressed in brain (PubMed:31649809). Expressed at lower level in other tissues, including heart, kidney, liver, lung and skeletal muscle (PubMed:31649809). Abundantly expressed in fetal brain (PubMed:31649809).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000135365, Expressed in corpus callosum and 233 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q96BD5, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96BD5, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000135365, Low tissue specificity

<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

Component of a BHC histone deacetylase complex that contains HDAC1, HDAC2, HMG20B/BRAF35, KDM1A, RCOR1/CoREST and PHF21A/BHC80. The BHC complex may also contain ZMYM2, ZNF217, ZMYM3, GSE1 and GTF2I. In the complex, it interacts directly with HDAC1, HDAC2, HMG20B/BRAF35, KDM1A and RCOR1/CoREST.

3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		119468, 65 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q96BD5

Database of interacting proteins

More...DIPi		DIP-60252N

Protein interaction database and analysis system

More...IntActi		Q96BD5, 38 interactors

Molecular INTeraction database

More...MINTi		Q96BD5

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000398824

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96BD5, 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

Secondary structure

1680
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		Q96BD5

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q96BD5

<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>Regioni486 – 680Required for transcriptional repressionAdd BLAST195

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili558 – 603Sequence analysisAdd BLAST46

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi4 – 108Gln-richAdd BLAST105

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri488 – 535PHD-typePROSITE-ProRule annotationAdd BLAST48

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0383, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156124

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_020260_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96BD5

Identification of Orthologs from Complete Genome Data

More...OMAi		AFNFNQT

Database of Orthologous Groups

More...OrthoDBi		1185408at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96BD5

TreeFam database of animal gene trees

More...TreeFami		TF331518

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR019786, Zinc_finger_PHD-type_CS
IPR011011, Znf_FYVE_PHD
IPR001965, Znf_PHD
IPR019787, Znf_PHD-finger
IPR013083, Znf_RING/FYVE/PHD

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00628, PHD, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00249, PHD, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF57903, SSF57903, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS01359, ZF_PHD_1, 1 hit
PS50016, ZF_PHD_2, 1 hit

<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

This entry has 3 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96BD5-1) [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
MELQTLQEAL KVEIQVHQKL VAQMKQDPQN ADLKKQLHEL QAKITALSEK 
        60         70         80         90        100
QKRVVEQLRK NLIVKQEQPD KFQIQPLPQS ENKLQTAQQQ PLQQLQQQQQ 
       110        120        130        140        150
YHHHHAQQSA AASPNLTASQ KTVTTASMIT TKTLPLVLKA ATATMPASVV 
       160        170        180        190        200
GQRPTIAMVT AINSQKAVLS TDVQNTPVNL QTSSKVTGPG AEAVQIVAKN 
       210        220        230        240        250
TVTLVQATPP QPIKVPQFIP PPRLTPRPNF LPQVRPKPVA QNNIPIAPAP 
       260        270        280        290        300
PPMLAAPQLI QRPVMLTKFT PTTLPTSQNS IHPVRVVNGQ TATIAKTFPM 
       310        320        330        340        350
AQLTSIVIAT PGTRLAGPQT VQLSKPSLEK QTVKSHTETD EKQTESRTIT 
       360        370        380        390        400
PPAAPKPKRE ENPQKLAFMV SLGLVTHDHL EEIQSKRQER KRRTTANPVY 
       410        420        430        440        450
SGAVFEPERK KSAVTYLNST MHPGTRKRGR PPKYNAVLGF GALTPTSPQS 
       460        470        480        490        500
SHPDSPENEK TETTFTFPAP VQPVSLPSPT STDGDIHEDF CSVCRKSGQL 
       510        520        530        540        550
LMCDTCSRVY HLDCLDPPLK TIPKGMWICP RCQDQMLKKE EAIPWPGTLA 
       560        570        580        590        600
IVHSYIAYKA AKEEEKQKLL KWSSDLKQER EQLEQKVKQL SNSISKCMEM 
       610        620        630        640        650
KNTILARQKE MHSSLEKVKQ LIRLIHGIDL SKPVDSEATV GAISNGPDCT 
       660        670        680
PPANAATSTP APSPSSQSCT ANCNQGEETK
Length:680
Mass (Da):74,854
Last modified:December 1, 2001 - 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:iC7AF87EB2984A796
GO
Isoform 2 (identifier: Q96BD5-2) [UniParc]FASTAAdd to basket
Also known as: hBHC80-4

The sequence of this isoform differs from the canonical sequence as follows:
     204-204: L → LQ
     429-483: GRPPKYNAVLGFGALTPTSPQSSHPDSPENEKTETTFTFPAPVQPVSLPSPTSTD → ANEEHWPK

Show »
Length:634
Mass (Da):70,210
Checksum:iB1F247CD92D7D411
GO
Isoform 3 (identifier: Q96BD5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     204-204: L → LQ

Show »
Length:681
Mass (Da):74,982
Checksum:iF95DC57A1D3C0FEC
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 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YCI1H0YCI1_HUMAN
PHD finger protein 21A
PHF21A
150Annotation 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>
H0YEK2H0YEK2_HUMAN
PHD finger protein 21A
PHF21A
116Annotation 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>
A0A1B0GX09A0A1B0GX09_HUMAN
PHD finger protein 21A
PHF21A
133Annotation 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>
E9PQM3E9PQM3_HUMAN
PHD finger protein 21A
PHF21A
101Annotation 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>
E9PLU5E9PLU5_HUMAN
PHD finger protein 21A
PHF21A
134Annotation 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>
H0YCM5H0YCM5_HUMAN
PHD finger protein 21A
PHF21A
93Annotation 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>
E9PLV4E9PLV4_HUMAN
PHD finger protein 21A
PHF21A
62Annotation 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>
E9PR02E9PR02_HUMAN
PHD finger protein 21A
PHF21A
51Annotation 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>
E9PS51E9PS51_HUMAN
PHD finger protein 21A
PHF21A
82Annotation 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>
E9PNN4E9PNN4_HUMAN
PHD finger protein 21A
PHF21A
11Annotation 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>
There are more potential isoformsShow all

<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 AAF64262 differs from that shown. Reason: Frameshift.Curated
The sequence BAB21787 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 conflicti447S → P in BAB13839 (PubMed:14702039).Curated1
Sequence conflicti662 – 680PSPSS…GEETK → LCSLPELHSEL (Ref. 7) CuratedAdd BLAST19

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_025515347R → H2 PublicationsCorresponds to variant dbSNP:rs3736508Ensembl.1
Natural variantiVAR_083199429G → S in NEDMS; unknown pathological significance. 1 Publication1
Natural variantiVAR_083200580 – 680Missing in NEDMS. 2 PublicationsAdd BLAST101

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_017448204L → LQ in isoform 2 and isoform 3. 3 Publications1
Alternative sequenceiVSP_017449429 – 483GRPPK…PTSTD → ANEEHWPK in isoform 2. 3 PublicationsAdd BLAST55

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
AY090777 mRNA Translation: AAM09095.1
AB051483 mRNA Translation: BAB21787.1 Different initiation.
AK021530 mRNA Translation: BAB13839.1
AK023258 mRNA Translation: BAB14492.1
CH471064 Genomic DNA Translation: EAW68012.1
CH471064 Genomic DNA Translation: EAW68013.1
CH471064 Genomic DNA Translation: EAW68015.1
CH471064 Genomic DNA Translation: EAW68017.1
BC015714 mRNA Translation: AAH15714.1
BX648236 mRNA Translation: CAH10542.1
AF208848 mRNA Translation: AAF64262.1 Frameshift.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS31474.1 [Q96BD5-2]
CCDS44578.1 [Q96BD5-1]

NCBI Reference Sequences

More...RefSeqi		NP_001095272.1, NM_001101802.1 [Q96BD5-1]
NP_057705.3, NM_016621.3 [Q96BD5-2]
XP_005253022.1, XM_005252965.4 [Q96BD5-3]
XP_011518475.1, XM_011520173.2
XP_011518476.1, XM_011520174.2 [Q96BD5-3]
XP_011518481.1, XM_011520179.2 [Q96BD5-2]
XP_016873380.1, XM_017017891.1 [Q96BD5-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000323180; ENSP00000323152; ENSG00000135365 [Q96BD5-2]
ENST00000418153; ENSP00000398824; ENSG00000135365 [Q96BD5-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		51317

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:51317

UCSC genome browser

More...UCSCi		uc001ncb.5, human [Q96BD5-1]

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
AY090777 mRNA Translation: AAM09095.1
AB051483 mRNA Translation: BAB21787.1 Different initiation.
AK021530 mRNA Translation: BAB13839.1
AK023258 mRNA Translation: BAB14492.1
CH471064 Genomic DNA Translation: EAW68012.1
CH471064 Genomic DNA Translation: EAW68013.1
CH471064 Genomic DNA Translation: EAW68015.1
CH471064 Genomic DNA Translation: EAW68017.1
BC015714 mRNA Translation: AAH15714.1
BX648236 mRNA Translation: CAH10542.1
AF208848 mRNA Translation: AAF64262.1 Frameshift.
CCDSiCCDS31474.1 [Q96BD5-2]
CCDS44578.1 [Q96BD5-1]
RefSeqiNP_001095272.1, NM_001101802.1 [Q96BD5-1]
NP_057705.3, NM_016621.3 [Q96BD5-2]
XP_005253022.1, XM_005252965.4 [Q96BD5-3]
XP_011518475.1, XM_011520173.2
XP_011518476.1, XM_011520174.2 [Q96BD5-3]
XP_011518481.1, XM_011520179.2 [Q96BD5-2]
XP_016873380.1, XM_017017891.1 [Q96BD5-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2PUYX-ray1.43A/B486-543[»]
2YQLNMR-A487-535[»]
SMRiQ96BD5
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi119468, 65 interactors
CORUMiQ96BD5
DIPiDIP-60252N
IntActiQ96BD5, 38 interactors
MINTiQ96BD5
STRINGi9606.ENSP00000398824

PTM databases

GlyGeniQ96BD5, 2 sites, 1 O-linked glycan (2 sites)
iPTMnetiQ96BD5
PhosphoSitePlusiQ96BD5

Polymorphism and mutation databases

BioMutaiPHF21A
DMDMi74731224

Proteomic databases

EPDiQ96BD5
jPOSTiQ96BD5
MassIVEiQ96BD5
MaxQBiQ96BD5
PaxDbiQ96BD5
PeptideAtlasiQ96BD5
PRIDEiQ96BD5
ProteomicsDBi76065 [Q96BD5-1]
76066 [Q96BD5-2]
76067 [Q96BD5-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		26236, 215 antibodies

The DNASU plasmid repository

More...DNASUi		51317

Genome annotation databases

EnsembliENST00000323180; ENSP00000323152; ENSG00000135365 [Q96BD5-2]
ENST00000418153; ENSP00000398824; ENSG00000135365 [Q96BD5-1]
GeneIDi51317
KEGGihsa:51317
UCSCiuc001ncb.5, human [Q96BD5-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		51317
DisGeNETi51317
EuPathDBiHostDB:ENSG00000135365.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		PHF21A
HGNCiHGNC:24156, PHF21A
HPAiENSG00000135365, Low tissue specificity
MalaCardsiPHF21A
MIMi608325, gene
618725, phenotype
neXtProtiNX_Q96BD5
OpenTargetsiENSG00000135365
Orphaneti52022, Potocki-Shaffer syndrome
PharmGKBiPA134977844

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0383, Eukaryota
GeneTreeiENSGT00940000156124
HOGENOMiCLU_020260_1_0_1
InParanoidiQ96BD5
OMAiAFNFNQT
OrthoDBi1185408at2759
PhylomeDBiQ96BD5
TreeFamiTF331518

Enzyme and pathway databases

PathwayCommonsiQ96BD5
ReactomeiR-HSA-3214815, HDACs deacetylate histones
R-HSA-983231, Factors involved in megakaryocyte development and platelet production

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		51317, 10 hits in 876 CRISPR screens

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

More...ChiTaRSi		PHF21A, human
EvolutionaryTraceiQ96BD5

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PHF21A

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

More...GenomeRNAii		51317
PharosiQ96BD5, Tbio

Protein Ontology

More...PROi		PR:Q96BD5
RNActiQ96BD5, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000135365, Expressed in corpus callosum and 233 other tissues
ExpressionAtlasiQ96BD5, baseline and differential
GenevisibleiQ96BD5, HS

Family and domain databases

Gene3Di3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR019786, Zinc_finger_PHD-type_CS
IPR011011, Znf_FYVE_PHD
IPR001965, Znf_PHD
IPR019787, Znf_PHD-finger
IPR013083, Znf_RING/FYVE/PHD
PfamiView protein in Pfam
PF00628, PHD, 1 hit
SMARTiView protein in SMART
SM00249, PHD, 1 hit
SUPFAMiSSF57903, SSF57903, 1 hit
PROSITEiView protein in PROSITE
PS01359, ZF_PHD_1, 1 hit
PS50016, ZF_PHD_2, 1 hit

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 nameiPF21A_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: Q96BD5
Secondary accession number(s): D3DQP5
, Q6AWA2, Q9C0G7, Q9H8V9, Q9HAK6, Q9NZE9
<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: March 7, 2006
Last sequence update: December 1, 2001
Last modified: August 12, 2020
This is version 168 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, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
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