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UniProtKB - Q8WXW3 (PIBF1_HUMAN)

Entry version 138 (05 Jun 2019)
Sequence version 2 (30 Aug 2005)
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Protein

Progesterone-induced-blocking factor 1

Gene

PIBF1

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

Plays a role in ciliogenesis.1 Publication
Isoform 1: Pericentriolar protein required to maintain mitotic spindle pole integrity (PubMed:21224392). Required for the centrosomal accumulation of PCM1 and the recruitment of centriolar satellite proteins such as BBS4. Via association with PCM1 may be involved in primary cilia formation (PubMed:23110211). Required for CEP63 centrosomal localization and its interaction with WDR62. Together with CEP63 promotes centriole duplication. Promotes the centrosomal localization of CDK2 (PubMed:26297806).3 Publications
Isoform 4: The secreted form is a mediator of progesterone that by acting on the phospholipase A2 enzyme interferes with arachidonic acid metabolism, induces a Th2 biased immune response, and by controlling decidual naturakl killer cells (NK) activity exerts an anti-abortive effect (PubMed:14634107, PubMed:3863495, PubMed:12516630). Increases the production of Th2-type cytokines by signaling via the JAK/STAT pathway. Activates STAT6 and inhibits STAT4 phosphorylation. Signaling via a not identified receptor seems to implicate IL4R and a GPI-anchored protein (PubMed:16393965, PubMed:25218441).1 Publication5 Publications

Miscellaneous

During normal pregnancy, the production is continuously increasing until the 37th gestational week and is followed by a sharp decrease after the 41st week of gestation. In pathological pregnancies, urinary levels fail to increase. Candidate for the diagnosis of threatened premature pregnancy termination.1 Publication

<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

Biological processImmunity

<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:
Progesterone-induced-blocking factor 1
Short name:
PIBF
Alternative name(s):
Centrosomal protein of 90 kDa
Short name:
CEP901 Publication
<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:PIBF1
Synonyms:C13orf24, PIBF
<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 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_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 13

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:23352 PIBF1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607532 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8WXW3

<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

Cytoplasm, Cytoskeleton, Nucleus, Secreted

<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

May be associated with microcephaly.1 Publication
Joubert syndrome 33 (JBTS33)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS33 inheritance is autosomal recessive.
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_051280405R → Q in JBTS33; loss of function in ciliogenesis. 1 PublicationCorresponds to variant dbSNP:rs17089782EnsemblClinVar.1
Natural variantiVAR_080441637D → A in JBTS33; loss of function in ciliogenesis. 1 PublicationCorresponds to variant dbSNP:rs987735817EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome

Organism-specific databases

DisGeNET

More...DisGeNETi		10464

MalaCards human disease database

More...MalaCardsi		PIBF1
MIMi617767 phenotype

Open Targets

More...OpenTargetsi		ENSG00000083535

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

More...Orphaneti		475 Joubert syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162399421

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PIBF1

Domain mapping of disease mutations (DMDM)

More...DMDMi		73920251

<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_00000584261 – 757Progesterone-induced-blocking factor 1Add BLAST757

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8WXW3

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8WXW3

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8WXW3

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

More...PaxDbi		Q8WXW3

PeptideAtlas

More...PeptideAtlasi		Q8WXW3

PRoteomics IDEntifications database

More...PRIDEi		Q8WXW3

ProteomicsDB human proteome resource

More...ProteomicsDBi		75105
75106 [Q8WXW3-2]
75107 [Q8WXW3-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8WXW3

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

More...PhosphoSitePlusi		Q8WXW3

<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 at highest levels in testis. Moderate expression is detected in spleen, thymus, prostate, ovary, small intestine, and colon (PubMed:11935316). Expressed in the first trimester pregnancy decidua (PubMed:12516630). Localized to extravillous cytotrophoblast (at protein level). Also found in syncytiotrophoblast and part of the villous cytotrophoblast. Isoform 1 is expressed in first trimester and term villous trophoblast; trophoblast cells can additionally express other isoforms (PubMed:18817979). Overexpressed in solid tumors from stomach and uterus and in cells from ovary, cervical, breast, lymphoma and leukemia cancer (PubMed:25218441).1 Publication3 Publications

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By progesterone.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000083535 Expressed in 212 organ(s), highest expression level in kidney

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8WXW3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8WXW3 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA052269
HPA066120

<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

Isoform 1 interacts with PCM1, BBS4 and CEP63 (PubMed:21224392, PubMed:23110211, PubMed:26297806). Interacts with IL4R (PubMed:25218441).4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		115727, 69 interactors

Database of interacting proteins

More...DIPi		DIP-56669N

Protein interaction database and analysis system

More...IntActi		Q8WXW3, 51 interactors

Molecular INTeraction database

More...MINTi		Q8WXW3

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000317144

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

3D structure databases

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

More...SMRi		Q8WXW3

Database of comparative protein structure models

More...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>Regioni1 – 419Mediates modulation of Th2 dominant cytokine production1 PublicationAdd BLAST419
Regioni1 – 184Sufficient for NK inhibitory function1 PublicationAdd BLAST184
Regioni271 – 363Required for interaction with PCM11 PublicationAdd BLAST93

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IFCG Eukaryota
ENOG410YQJ9 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000015293

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000006812

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8WXW3

KEGG Orthology (KO)

More...KOi		K16538

Identification of Orthologs from Complete Genome Data

More...OMAi		QTKNQMA

Database of Orthologous Groups

More...OrthoDBi		421171at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8WXW3

TreeFam database of animal gene trees

More...TreeFami		TF329068

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR026205 PIBF1

The PANTHER Classification System

More...PANTHERi		PTHR18950 PTHR18950, 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>. 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 (4+)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.

This entry describes 4 <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
Note: Additional isoforms seem to exist.

This entry has 4 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8WXW3-1) [UniParc]FASTAAdd to basket
Also known as: 90 kDa form

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
MSRKISKESK KVNISSSLES EDISLETTVP TDDISSSEER EGKVRITRQL 
        60         70         80         90        100
IERKELLHNI QLLKIELSQK TMMIDNLKVD YLTKIEELEE KLNDALHQKQ 
       110        120        130        140        150
LLTLRLDNQL AFQQKDASKY QELMKQEMET ILLRQKQLEE TNLQLREKAG 
       160        170        180        190        200
DVRRNLRDFE LTEEQYIKLK AFPEDQLSIP EYVSVRFYEL VNPLRKEICE 
       210        220        230        240        250
LQVKKNILAE ELSTNKNQLK QLTETYEEDR KNYSEVQIRC QRLALELADT 
       260        270        280        290        300
KQLIQQGDYR QENYDKVKSE RDALEQEVIE LRRKHEILEA SHMIQTKERS 
       310        320        330        340        350
ELSKEVVTLE QTVTLLQKDK EYLNRQNMEL SVRCAHEEDR LERLQAQLEE 
       360        370        380        390        400
SKKAREEMYE KYVASRDHYK TEYENKLHDE LEQIRLKTNQ EIDQLRNASR 
       410        420        430        440        450
EMYERENRNL REARDNAVAE KERAVMAEKD ALEKHDQLLD RYRELQLSTE 
       460        470        480        490        500
SKVTEFLHQS KLKSFESERV QLLQEETARN LTQCQLECEK YQKKLEVLTK 
       510        520        530        540        550
EFYSLQASSE KRITELQAQN SEHQARLDIY EKLEKELDEI IMQTAEIENE 
       560        570        580        590        600
DEAERVLFSY GYGANVPTTA KRRLKQSVHL ARRVLQLEKQ NSLILKDLEH 
       610        620        630        640        650
RKDQVTQLSQ ELDRANSLLN QTQQPYRYLI ESVRQRDSKI DSLTESIAQL 
       660        670        680        690        700
EKDVSNLNKE KSALLQTKNQ MALDLEQLLN HREELAAMKQ ILVKMHSKHS 
       710        720        730        740        750
ENSLLLTKTE PKHVTENQKS KTLNVPKEHE DNIFTPKPTL FTKKEAPEWS 

KKQKMKT
Length:757
Mass (Da):89,805
Last modified:August 30, 2005 - 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:iB469FB3BCC7E80FD
GO
Isoform 2 (identifier: Q8WXW3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-541: Missing.

Note: No experimental confirmation available.
Show »
Length:216
Mass (Da):25,125
Checksum:i83A174B20DF2240F
GO
Isoform 3 (identifier: Q8WXW3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     101-103: LLT → QTF
     104-757: Missing.

Note: No experimental confirmation available.
Show »
Length:103
Mass (Da):12,016
Checksum:iDBD92AF3CD8037CB
GO
Isoform 4 (identifier: Q8WXW3-4) [UniParc]FASTAAdd to basket
Also known as: 34/35 kDa form

The sequence of this isoform differs from the canonical sequence as follows:
     225-683: Missing.

Show »
Length:298
Mass (Da):35,071
Checksum:i87F4C162AF5BEB52
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WUI6A0A087WUI6_HUMAN
Progesterone-induced-blocking facto...
PIBF1
698Annotation 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>

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 conflicti155N → S in CAA70844 (Ref. 3) Curated1
Sequence conflicti333R → C in CAA70844 (Ref. 3) Curated1
Sequence conflicti597 – 614DLEHR…QELDR → RSGTSKGPSNTAFTRSLTE in AAQ67659 (Ref. 3) CuratedAdd BLAST18
Sequence conflicti610Q → P in AAL37481 (PubMed:11935316).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07395289E → Q Probable disease-associated mutation found in patients with microcephaly and intellectual disability; disrupts interaction with CEP63; no effect on interaction with PCM1. 1 PublicationCorresponds to variant dbSNP:rs865883692Ensembl.1
Natural variantiVAR_051279167I → V. Corresponds to variant dbSNP:rs1372000Ensembl.1
Natural variantiVAR_051280405R → Q in JBTS33; loss of function in ciliogenesis. 1 PublicationCorresponds to variant dbSNP:rs17089782EnsemblClinVar.1
Natural variantiVAR_051281630I → V. Corresponds to variant dbSNP:rs11544631Ensembl.1
Natural variantiVAR_080441637D → A in JBTS33; loss of function in ciliogenesis. 1 PublicationCorresponds to variant dbSNP:rs987735817EnsemblClinVar.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0153021 – 541Missing in isoform 2. 1 PublicationAdd BLAST541
Alternative sequenceiVSP_015303101 – 103LLT → QTF in isoform 3. 1 Publication3
Alternative sequenceiVSP_015304104 – 757Missing in isoform 3. 1 PublicationAdd BLAST654
Alternative sequenceiVSP_057956225 – 683Missing in isoform 4. 1 PublicationAdd BLAST459

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
AF330046 mRNA Translation: AAL37481.1
AY375528 mRNA Translation: AAQ67659.1
AY370776 mRNA Translation: AAQ73282.1
Y09631 Genomic DNA Translation: CAA70844.1
AL354720 Genomic DNA No translation available.
AL391384 Genomic DNA No translation available.
BC051911 mRNA Translation: AAH51911.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS31991.1 [Q8WXW3-1]

NCBI Reference Sequences

More...RefSeqi		NP_006337.2, NM_006346.2 [Q8WXW3-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000326291; ENSP00000317144; ENSG00000083535 [Q8WXW3-1]
ENST00000615625; ENSP00000483286; ENSG00000083535 [Q8WXW3-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10464

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10464

UCSC genome browser

More...UCSCi		uc001vjc.4 human [Q8WXW3-1]

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
AF330046 mRNA Translation: AAL37481.1
AY375528 mRNA Translation: AAQ67659.1
AY370776 mRNA Translation: AAQ73282.1
Y09631 Genomic DNA Translation: CAA70844.1
AL354720 Genomic DNA No translation available.
AL391384 Genomic DNA No translation available.
BC051911 mRNA Translation: AAH51911.1
CCDSiCCDS31991.1 [Q8WXW3-1]
RefSeqiNP_006337.2, NM_006346.2 [Q8WXW3-1]

3D structure databases

SMRiQ8WXW3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115727, 69 interactors
DIPiDIP-56669N
IntActiQ8WXW3, 51 interactors
MINTiQ8WXW3
STRINGi9606.ENSP00000317144

PTM databases

iPTMnetiQ8WXW3
PhosphoSitePlusiQ8WXW3

Polymorphism and mutation databases

BioMutaiPIBF1
DMDMi73920251

Proteomic databases

EPDiQ8WXW3
jPOSTiQ8WXW3
MaxQBiQ8WXW3
PaxDbiQ8WXW3
PeptideAtlasiQ8WXW3
PRIDEiQ8WXW3
ProteomicsDBi75105
75106 [Q8WXW3-2]
75107 [Q8WXW3-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000326291; ENSP00000317144; ENSG00000083535 [Q8WXW3-1]
ENST00000615625; ENSP00000483286; ENSG00000083535 [Q8WXW3-2]
GeneIDi10464
KEGGihsa:10464
UCSCiuc001vjc.4 human [Q8WXW3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		10464
DisGeNETi10464

GeneCards: human genes, protein and diseases

More...GeneCardsi		PIBF1
HGNCiHGNC:23352 PIBF1
HPAiHPA052269
HPA066120
MalaCardsiPIBF1
MIMi607532 gene
617767 phenotype
neXtProtiNX_Q8WXW3
OpenTargetsiENSG00000083535
Orphaneti475 Joubert syndrome
PharmGKBiPA162399421

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IFCG Eukaryota
ENOG410YQJ9 LUCA
GeneTreeiENSGT00390000015293
HOGENOMiHOG000006812
InParanoidiQ8WXW3
KOiK16538
OMAiQTKNQMA
OrthoDBi421171at2759
PhylomeDBiQ8WXW3
TreeFamiTF329068

Miscellaneous databases

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

More...ChiTaRSi		PIBF1 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		C13orf24

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

More...GenomeRNAii		10464

Protein Ontology

More...PROi		PR:Q8WXW3

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000083535 Expressed in 212 organ(s), highest expression level in kidney
ExpressionAtlasiQ8WXW3 baseline and differential
GenevisibleiQ8WXW3 HS

Family and domain databases

InterProiView protein in InterPro
IPR026205 PIBF1
PANTHERiPTHR18950 PTHR18950, 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 nameiPIBF1_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: Q8WXW3
Secondary accession number(s): O95664
, Q6U9V2, Q6UG50, Q86V07, Q96SF4
<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 22, 2003
Last sequence update: August 30, 2005
Last modified: June 5, 2019
This is version 138 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: 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
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