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Protein

PH-interacting protein

Gene

PHIP

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

Probable regulator of the insulin and insulin-like growth factor signaling pathways. Stimulates cell proliferation through regulation of cyclin transcription and has an anti-apoptotic activity through AKT1 phosphorylation and activation. Plays a role in the regulation of cell morphology and cytoskeletal organization.2 Publications

<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

  • insulin receptor binding Source: UniProtKB
  • lysine-acetylated histone binding Source: UniProtKB

GO - Biological processi

Enzyme and pathway databases

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q8WWQ0

<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:
PH-interacting protein
Short name:
PHIP
Alternative name(s):
DDB1- and CUL4-associated factor 14
IRS-1 PH domain-binding protein
WD repeat-containing protein 11
<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:PHIP
Synonyms:DCAF14, WDR11
<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 6

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000146247.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:15673 PHIP

Online Mendelian Inheritance in Man (OMIM)

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MIMi
612870 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8WWQ0

<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

<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>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

Developmental delay, intellectual disability, obesity, and dysmorphic features (DIDOD)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by developmental delay, intellectual disability, autistic features, anxiety, hypotonia, obesity, and dysmorphic features.
See also OMIM:617991
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_08098117F → S in DIDOD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs878854420EnsemblClinVar.1
Natural variantiVAR_080982110R → C in DIDOD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs768324201Ensembl.1
Natural variantiVAR_080983110R → S in DIDOD; unknown pathological significance. 1 Publication1
Natural variantiVAR_080984274 – 1821Missing in DIDOD. 1 PublicationAdd BLAST1548
Natural variantiVAR_080985555 – 1821Missing in DIDOD. 1 PublicationAdd BLAST1267
Natural variantiVAR_080986634 – 1821Missing in DIDOD. 1 PublicationAdd BLAST1188
Natural variantiVAR_080987968 – 1821Missing in DIDOD. 1 PublicationAdd BLAST854
Natural variantiVAR_0786911149 – 1821Missing in DIDOD. 2 PublicationsAdd BLAST673
Natural variantiVAR_0809881191 – 1821Missing in DIDOD. 1 PublicationAdd BLAST631
Natural variantiVAR_0809891263Q → E in DIDOD; unknown pathological significance; found in a patient who also carries a de novo missense variant in TBC1D8B. 1 Publication1
Natural variantiVAR_0809901298 – 1821Missing in DIDOD. 1 PublicationAdd BLAST524
Natural variantiVAR_0809911354 – 1821Missing in DIDOD. 1 PublicationAdd BLAST468

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
55023

MalaCards human disease database

More...
MalaCardsi
PHIP
MIMi617991 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000146247

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA33265

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2176773

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PHIP

Domain mapping of disease mutations (DMDM)

More...
DMDMi
308153472

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002977571 – 1821PH-interacting proteinAdd BLAST1821

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 residuei136PhosphoserineCombined 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-linki421Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei641PhosphoserineCombined sources1
Modified residuei659PhosphoserineCombined sources1
Modified residuei674PhosphoserineCombined sources1
Modified residuei677PhosphoserineCombined sources1
Modified residuei683PhosphoserineCombined sources1
Modified residuei692PhosphoserineCombined sources1
Modified residuei879PhosphoserineCombined sources1
Modified residuei880PhosphoserineCombined sources1
Modified residuei881PhosphoserineCombined sources1
Modified residuei911PhosphoserineCombined sources1
Modified residuei1281PhosphoserineCombined sources1
Modified residuei1283PhosphoserineCombined sources1
Modified residuei1296PhosphoserineCombined sources1
Modified residuei1315PhosphoserineCombined sources1
Modified residuei1359PhosphothreonineCombined sources1
Modified residuei1405PhosphoserineCombined sources1
Cross-linki1470Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki1470Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei1479PhosphoserineCombined sources1
Modified residuei1497N6-acetyllysineCombined sources1
Modified residuei1525PhosphoserineCombined sources1
Modified residuei1533N6-acetyllysineCombined sources1
Modified residuei1560PhosphoserineCombined sources1
Cross-linki1644Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1651PhosphoserineCombined sources1
Cross-linki1670Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1762PhosphoserineCombined sources1
Modified residuei1783PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8WWQ0

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8WWQ0

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

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PaxDbi
Q8WWQ0

PeptideAtlas

More...
PeptideAtlasi
Q8WWQ0

PRoteomics IDEntifications database

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PRIDEi
Q8WWQ0

ProteomicsDB human proteome resource

More...
ProteomicsDBi
74919

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8WWQ0

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

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PhosphoSitePlusi
Q8WWQ0

<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 myeloma and epidermoid carcinoma cell lines.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000146247 Expressed in 244 organ(s), highest expression level in cerebral cortex

CleanEx database of gene expression profiles

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CleanExi
HS_PHIP

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8WWQ0 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA019140
HPA019838

<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 IRS1 and IRS2 (By similarity). Interacts (via bromo domain) with acetylated lysine residues on histone H1.4, histone H3 and H4 (in vitro).By similarity1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
120353, 30 interactors

Protein interaction database and analysis system

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IntActi
Q8WWQ0, 21 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000275034

<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

11821
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
Q8WWQ0

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

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SMRi
Q8WWQ0

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q8WWQ0

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati181 – 222WD 1Add BLAST42
Repeati224 – 262WD 2Add BLAST39
Repeati265 – 310WD 3Add BLAST46
Repeati319 – 360WD 4Add BLAST42
Repeati363 – 402WD 5Add BLAST40
Repeati422 – 461WD 6Add BLAST40
Repeati464 – 504WD 7Add BLAST41
Repeati512 – 551WD 8Add BLAST40
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini1176 – 1246Bromo 1PROSITE-ProRule annotationAdd BLAST71
Domaini1333 – 1403Bromo 2PROSITE-ProRule annotationAdd BLAST71

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>Regioni924 – 1129Mediates interaction with IRS1By similarityAdd BLAST206

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 biasi867 – 923Lys-richAdd BLAST57
Compositional biasi1752 – 1758Poly-Glu7

Keywords - Domaini

Bromodomain, Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0644 Eukaryota
ENOG410YCD8 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000153647

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG108248

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8WWQ0

KEGG Orthology (KO)

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KOi
K11797

Identification of Orthologs from Complete Genome Data

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OMAi
PTVSKNH

Database of Orthologous Groups

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OrthoDBi
EOG091G00HZ

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8WWQ0

TreeFam database of animal gene trees

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TreeFami
TF324197

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.20.920.10, 2 hits
2.130.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001487 Bromodomain
IPR036427 Bromodomain-like_sf
IPR018359 Bromodomain_CS
IPR028738 PHIP
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf

The PANTHER Classification System

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PANTHERi
PTHR16266:SF4 PTHR16266:SF4, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00439 Bromodomain, 2 hits
PF00400 WD40, 5 hits

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00503 BROMODOMAIN

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00297 BROMO, 2 hits
SM00320 WD40, 8 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47370 SSF47370, 2 hits
SSF50978 SSF50978, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00633 BROMODOMAIN_1, 1 hit
PS50014 BROMODOMAIN_2, 2 hits
PS00678 WD_REPEATS_1, 2 hits
PS50082 WD_REPEATS_2, 5 hits
PS50294 WD_REPEATS_REGION, 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_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>Sequencei

<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.

Q8WWQ0-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSCERKGLSE LRSELYFLIA RFLEDGPCQQ AAQVLIREVA EKELLPRRTD
60 70 80 90 100
WTGKEHPRTY QNLVKYYRHL APDHLLQICH RLGPLLEQEI PQSVPGVQTL
110 120 130 140 150
LGAGRQSLLR TNKSCKHVVW KGSALAALHC GRPPESPVNY GSPPSIADTL
160 170 180 190 200
FSRKLNGKYR LERLVPTAVY QHMKMHKRIL GHLSSVYCVT FDRTGRRIFT
210 220 230 240 250
GSDDCLVKIW ATDDGRLLAT LRGHAAEISD MAVNYENTMI AAGSCDKMIR
260 270 280 290 300
VWCLRTCAPL AVLQGHSASI TSLQFSPLCS GSKRYLSSTG ADGTICFWLW
310 320 330 340 350
DAGTLKINPR PAKFTERPRP GVQMICSSFS AGGMFLATGS TDHIIRVYFF
360 370 380 390 400
GSGQPEKISE LEFHTDKVDS IQFSNTSNRF VSGSRDGTAR IWQFKRREWK
410 420 430 440 450
SILLDMATRP AGQNLQGIED KITKMKVTMV AWDRHDNTVI TAVNNMTLKV
460 470 480 490 500
WNSYTGQLIH VLMGHEDEVF VLEPHPFDPR VLFSAGHDGN VIVWDLARGV
510 520 530 540 550
KIRSYFNMIE GQGHGAVFDC KCSPDGQHFA CTDSHGHLLI FGFGSSSKYD
560 570 580 590 600
KIADQMFFHS DYRPLIRDAN NFVLDEQTQQ APHLMPPPFL VDVDGNPHPS
610 620 630 640 650
RYQRLVPGRE NCREEQLIPQ MGVTSSGLNQ VLSQQANQEI SPLDSMIQRL
660 670 680 690 700
QQEQDLRRSG EAVISNTSRL SRGSISSTSE VHSPPNVGLR RSGQIEGVRQ
710 720 730 740 750
MHSNAPRSEI ATERDLVAWS RRVVVPELSA GVASRQEEWR TAKGEEEIKT
760 770 780 790 800
YRSEEKRKHL TVPKENKIPT VSKNHAHEHF LDLGESKKQQ TNQHNYRTRS
810 820 830 840 850
ALEETPRPSE EIENGSSSSD EGEVVAVSGG TSEEEERAWH SDGSSSDYSS
860 870 880 890 900
DYSDWTADAG INLQPPKKVP KNKTKKAESS SDEEEESEKQ KQKQIKKEKK
910 920 930 940 950
KVNEEKDGPI SPKKKKPKER KQKRLAVGEL TENGLTLEEW LPSTWITDTI
960 970 980 990 1000
PRRCPFVPQM GDEVYYFRQG HEAYVEMARK NKIYSINPKK QPWHKMELRE
1010 1020 1030 1040 1050
QELMKIVGIK YEVGLPTLCC LKLAFLDPDT GKLTGGSFTM KYHDMPDVID
1060 1070 1080 1090 1100
FLVLRQQFDD AKYRRWNIGD RFRSVIDDAW WFGTIESQEP LQLEYPDSLF
1110 1120 1130 1140 1150
QCYNVCWDNG DTEKMSPWDM ELIPNNAVFP EELGTSVPLT DGECRSLIYK
1160 1170 1180 1190 1200
PLDGEWGTNP RDEECERIVA GINQLMTLDI ASAFVAPVDL QAYPMYCTVV
1210 1220 1230 1240 1250
AYPTDLSTIK QRLENRFYRR VSSLMWEVRY IEHNTRTFNE PGSPIVKSAK
1260 1270 1280 1290 1300
FVTDLLLHFI KDQTCYNIIP LYNSMKKKVL SDSEDEEKDA DVPGTSTRKR
1310 1320 1330 1340 1350
KDHQPRRRLR NRAQSYDIQA WKKQCEELLN LIFQCEDSEP FRQPVDLLEY
1360 1370 1380 1390 1400
PDYRDIIDTP MDFATVRETL EAGNYESPME LCKDVRLIFS NSKAYTPSKR
1410 1420 1430 1440 1450
SRIYSMSLRL SAFFEEHISS VLSDYKSALR FHKRNTITKR RKKRNRSSSV
1460 1470 1480 1490 1500
SSSAASSPER KKRILKPQLK SESSTSAFST PTRSIPPRHN AAQINGKTES
1510 1520 1530 1540 1550
SSVVRTRSNR VVVDPVVTEQ PSTSSAAKTF ITKANASAIP GKTILENSVK
1560 1570 1580 1590 1600
HSKALNTLSS PGQSSFSHGT RNNSAKENME KEKPVKRKMK SSVLPKASTL
1610 1620 1630 1640 1650
SKSSAVIEQG DCKNNALVPG TIQVNGHGGQ PSKLVKRGPG RKPKVEVNTN
1660 1670 1680 1690 1700
SGEIIHKKRG RKPKKLQYAK PEDLEQNNVH PIRDEVLPSS TCNFLSETNN
1710 1720 1730 1740 1750
VKEDLLQKKN RGGRKPKRKM KTQKLDADLL VPASVKVLRR SNRKKIDDPI
1760 1770 1780 1790 1800
DEEEEFEELK GSEPHMRTRN QGRRTAFYNE DDSEEEQRQL LFEDTSLTFG
1810 1820
TSSRGRVRKL TEKAKANLIG W
Length:1,821
Mass (Da):206,689
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:i88688EF8743C980F
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 AAH21905 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence BAC11417 differs from that shown. Reason: Frameshift at position 1648.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 conflicti2S → P in BAB71353 (PubMed:14702039).Curated1
Sequence conflicti770T → I in BAB71353 (PubMed:14702039).Curated1
Sequence conflicti1648N → I in BAC11417 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08098117F → S in DIDOD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs878854420EnsemblClinVar.1
Natural variantiVAR_080982110R → C in DIDOD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs768324201Ensembl.1
Natural variantiVAR_080983110R → S in DIDOD; unknown pathological significance. 1 Publication1
Natural variantiVAR_080984274 – 1821Missing in DIDOD. 1 PublicationAdd BLAST1548
Natural variantiVAR_036238469V → I in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_080985555 – 1821Missing in DIDOD. 1 PublicationAdd BLAST1267
Natural variantiVAR_080986634 – 1821Missing in DIDOD. 1 PublicationAdd BLAST1188
Natural variantiVAR_034683663V → GCombined sources5 PublicationsCorresponds to variant dbSNP:rs7747479Ensembl.1
Natural variantiVAR_034684874T → I1 PublicationCorresponds to variant dbSNP:rs11547228Ensembl.1
Natural variantiVAR_080987968 – 1821Missing in DIDOD. 1 PublicationAdd BLAST854
Natural variantiVAR_0346851093L → P2 PublicationsCorresponds to variant dbSNP:rs9350797Ensembl.1
Natural variantiVAR_0346861135T → P. Corresponds to variant dbSNP:rs34841569Ensembl.1
Natural variantiVAR_0786911149 – 1821Missing in DIDOD. 2 PublicationsAdd BLAST673
Natural variantiVAR_0809881191 – 1821Missing in DIDOD. 1 PublicationAdd BLAST631
Natural variantiVAR_0809891263Q → E in DIDOD; unknown pathological significance; found in a patient who also carries a de novo missense variant in TBC1D8B. 1 Publication1
Natural variantiVAR_0809901298 – 1821Missing in DIDOD. 1 PublicationAdd BLAST524
Natural variantiVAR_0809911354 – 1821Missing in DIDOD. 1 PublicationAdd BLAST468
Natural variantiVAR_0346871445N → T. Corresponds to variant dbSNP:rs36048894Ensembl.1
Natural variantiVAR_0362391767R → I in a colorectal cancer sample; somatic mutation. 1 Publication1

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
DQ924532 mRNA Translation: ABK76299.1
AJ303102 mRNA Translation: CAC83118.1
AL450327 Genomic DNA No translation available.
AL356776 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48718.1
BC008909 mRNA Translation: AAH08909.2
BC021905 mRNA Translation: AAH21905.1 Sequence problems.
BC081569 mRNA Translation: AAH81569.1
BC137488 mRNA Translation: AAI37489.1
AK057039 mRNA Translation: BAB71353.1
AK075124 mRNA Translation: BAC11417.1 Frameshift.
AL161957 mRNA Translation: CAH10776.1
AF310250 mRNA Translation: AAG45145.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS4987.1

NCBI Reference Sequences

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RefSeqi
NP_060404.4, NM_017934.6

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.511817
Hs.606356

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000275034; ENSP00000275034; ENSG00000146247

Database of genes from NCBI RefSeq genomes

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GeneIDi
55023

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:55023

UCSC genome browser

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UCSCi
uc003pir.4 human

Keywords - Coding sequence diversityi

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
DQ924532 mRNA Translation: ABK76299.1
AJ303102 mRNA Translation: CAC83118.1
AL450327 Genomic DNA No translation available.
AL356776 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48718.1
BC008909 mRNA Translation: AAH08909.2
BC021905 mRNA Translation: AAH21905.1 Sequence problems.
BC081569 mRNA Translation: AAH81569.1
BC137488 mRNA Translation: AAI37489.1
AK057039 mRNA Translation: BAB71353.1
AK075124 mRNA Translation: BAC11417.1 Frameshift.
AL161957 mRNA Translation: CAH10776.1
AF310250 mRNA Translation: AAG45145.1
CCDSiCCDS4987.1
RefSeqiNP_060404.4, NM_017934.6
UniGeneiHs.511817
Hs.606356

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
3MB3X-ray2.25A1302-1434[»]
5ENBX-ray1.73A1315-1440[»]
5ENCX-ray1.59A1315-1440[»]
5ENEX-ray1.49A1315-1440[»]
5ENFX-ray1.37A1315-1440[»]
5ENHX-ray1.95A1315-1440[»]
5ENIX-ray1.69A1315-1440[»]
5ENJX-ray1.63A1315-1440[»]
ProteinModelPortaliQ8WWQ0
SMRiQ8WWQ0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120353, 30 interactors
IntActiQ8WWQ0, 21 interactors
STRINGi9606.ENSP00000275034

Chemistry databases

ChEMBLiCHEMBL2176773

PTM databases

iPTMnetiQ8WWQ0
PhosphoSitePlusiQ8WWQ0

Polymorphism and mutation databases

BioMutaiPHIP
DMDMi308153472

Proteomic databases

EPDiQ8WWQ0
MaxQBiQ8WWQ0
PaxDbiQ8WWQ0
PeptideAtlasiQ8WWQ0
PRIDEiQ8WWQ0
ProteomicsDBi74919

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000275034; ENSP00000275034; ENSG00000146247
GeneIDi55023
KEGGihsa:55023
UCSCiuc003pir.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
55023
DisGeNETi55023
EuPathDBiHostDB:ENSG00000146247.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PHIP

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0032894
HGNCiHGNC:15673 PHIP
HPAiHPA019140
HPA019838
MalaCardsiPHIP
MIMi612870 gene
617991 phenotype
neXtProtiNX_Q8WWQ0
OpenTargetsiENSG00000146247
PharmGKBiPA33265

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0644 Eukaryota
ENOG410YCD8 LUCA
GeneTreeiENSGT00940000153647
HOVERGENiHBG108248
InParanoidiQ8WWQ0
KOiK11797
OMAiPTVSKNH
OrthoDBiEOG091G00HZ
PhylomeDBiQ8WWQ0
TreeFamiTF324197

Enzyme and pathway databases

SignaLinkiQ8WWQ0

Miscellaneous databases

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

More...
ChiTaRSi
PHIP human
EvolutionaryTraceiQ8WWQ0

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

More...
GenomeRNAii
55023

Protein Ontology

More...
PROi
PR:Q8WWQ0

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000146247 Expressed in 244 organ(s), highest expression level in cerebral cortex
CleanExiHS_PHIP
GenevisibleiQ8WWQ0 HS

Family and domain databases

Gene3Di1.20.920.10, 2 hits
2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR001487 Bromodomain
IPR036427 Bromodomain-like_sf
IPR018359 Bromodomain_CS
IPR028738 PHIP
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PANTHERiPTHR16266:SF4 PTHR16266:SF4, 1 hit
PfamiView protein in Pfam
PF00439 Bromodomain, 2 hits
PF00400 WD40, 5 hits
PRINTSiPR00503 BROMODOMAIN
SMARTiView protein in SMART
SM00297 BROMO, 2 hits
SM00320 WD40, 8 hits
SUPFAMiSSF47370 SSF47370, 2 hits
SSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS00633 BROMODOMAIN_1, 1 hit
PS50014 BROMODOMAIN_2, 2 hits
PS00678 WD_REPEATS_1, 2 hits
PS50082 WD_REPEATS_2, 5 hits
PS50294 WD_REPEATS_REGION, 1 hit

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 nameiPHIP_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: Q8WWQ0
Secondary accession number(s): A7J992
, B2RPK4, Q05CQ9, Q5VVH4, Q66I29, Q69YV1, Q8NBZ5, Q96H52, Q96ME2, Q9H261
<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: August 21, 2007
Last sequence update: October 5, 2010
Last modified: December 5, 2018
This is version 147 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  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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