Aliases for PCLAF Gene

Aliases for PCLAF Gene

  • PCNA Clamp Associated Factor 2 3 5
  • PCNA-Associated Factor 2 3 4
  • KIAA0101 2 3 4
  • NS5ATP9 2 3 4
  • OEATC-1 2 3 4
  • PAF15 2 3 4
  • Hepatitis C Virus NS5A-Transactivated Protein 9 3 4
  • Overexpressed In Anaplastic Thyroid Carcinoma 1 3 4
  • HCV NS5A-Transactivated Protein 9 3 4
  • PCNA-Associated Factor Of 15 KDa 3 4
  • P15(PAF) 2 3
  • P15PAF 3 4
  • PAF 3 4
  • PCNA-Clamp-Associated Factor 4
  • P15/PAF 3
  • OEATC1 3
  • OEATC 3
  • PCLAF 5
  • L5 3

External Ids for PCLAF Gene

Previous HGNC Symbols for PCLAF Gene

  • KIAA0101

Previous GeneCards Identifiers for PCLAF Gene

  • GC15M064366
  • GC15M064369
  • GC15M064395
  • GC15M064549

Summaries for PCLAF Gene

GeneCards Summary for PCLAF Gene

PCLAF (PCNA Clamp Associated Factor) is a Protein Coding gene. Diseases associated with PCLAF include Thyroid Carcinoma and Heart Conduction Disease. Among its related pathways are Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template and DNA Double-Strand Break Repair. An important paralog of this gene is ENSG00000259316.

UniProtKB/Swiss-Prot Summary for PCLAF Gene

  • PCNA-binding protein that acts as a regulator of DNA repair during DNA replication. Following DNA damage, the interaction with PCNA is disrupted, facilitating the interaction between monoubiquitinated PCNA and the translesion DNA synthesis DNA polymerase eta (POLH) at stalled replisomes, facilitating the bypass of replication-fork-blocking lesions. Also acts as a regulator of centrosome number.

Gene Wiki entry for PCLAF Gene

Additional gene information for PCLAF Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PCLAF Gene

Genomics for PCLAF Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PCLAF Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J064386 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 -0.5 -514 2.8 BRCA1 SP1 HNRNPL CREB1 GATAD2A TEAD4 PRDM10 ZNF629 ZNF512 RFX1 TRIP4 PCLAF PARP16 SNX1 CSNK1G1 ZNF609 USP3 RBPMS2 UBAP1L FBXL22
GH15J064378 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 611.5 +7.4 7444 4.3 ARHGAP35 SP1 CREB1 PRDM10 ZNF512 IKZF1 ZNF692 POLR2A FOS PRDM1 PCLAF ENSG00000259316 RF00017-1812 lnc-CSNK1G1-1 TRIP4 CSNK1G1 ZNF609 L13712-006
GH15J064376 Promoter 0.3 EPDnew 600.4 +10.8 10784 0.1 RF00017-1812 piR-52079-066 PCLAF ENSG00000259316 lnc-CSNK1G1-1 NONHSAG017152.2 CSNK1G1 L13712-006
GH15J064365 Promoter 0.3 EPDnew 600.4 +22.6 22610 0.1 PCLAF ENSG00000252774 SNX22 RNU6-549P RBPMS2 CSNK1G1 NONHSAG017152.2 lnc-CSNK1G1-1 ENSG00000259316 L13712-006
GH15J064367 Promoter 0.3 EPDnew 600.4 +21.6 21592 0.1 PCLAF ENSG00000252774 SNX22 RNU6-549P RBPMS2 NONHSAG017152.2 CSNK1G1 lnc-CSNK1G1-1 ENSG00000259316 L13712-006
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PCLAF on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PCLAF

Genomic Locations for PCLAF Gene

Genomic Locations for PCLAF Gene
chr15:64,364,304-64,387,687
(GRCh38/hg38)
Size:
23,384 bases
Orientation:
Minus strand
chr15:64,657,193-64,679,886
(GRCh37/hg19)
Size:
22,694 bases
Orientation:
Minus strand

Genomic View for PCLAF Gene

Genes around PCLAF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCLAF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCLAF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCLAF Gene

Proteins for PCLAF Gene

  • Protein details for PCLAF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15004-PAF15_HUMAN
    Recommended name:
    PCNA-associated factor
    Protein Accession:
    Q15004
    Secondary Accessions:
    • A6NNU5
    • A8K3Y3
    • G9G694
    • G9G696

    Protein attributes for PCLAF Gene

    Size:
    111 amino acids
    Molecular mass:
    11986 Da
    Quaternary structure:
    • Interacts (when monoubiquitinated at Lys-15 and Lys-24) with PCNA. Interacts with isoform 2/p33ING1b of ING1. Interacts with BRCA1.
    SequenceCaution:
    • Sequence=BAA03491.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • Overexpression in adrenocortical neoplasms (ACC), may promote growth and invasion in adrenal cancer.

    Three dimensional structures from OCA and Proteopedia for PCLAF Gene

    Alternative splice isoforms for PCLAF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCLAF Gene

Post-translational modifications for PCLAF Gene

  • Monoubiquitinated at Lys-15 and Lys-24 during normal S phase, promoting its association with PCNA. Also diubiquitinated at these 2 sites. Following DNA damage, monoubiquitin chains at Lys-15 and Lys-24 are probably extended, leading to disrupt the interaction with PCNA. Polyubiquitinated by the APC/C complex at the mitotic exit, leading to its degradation by the proteasome.
  • Ubiquitination at Lys15 and Lys63
  • Modification sites at PhosphoSitePlus

Other Protein References for PCLAF Gene

No data available for DME Specific Peptides for PCLAF Gene

Domains & Families for PCLAF Gene

Gene Families for PCLAF Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PCLAF Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PCLAF Gene

GenScript: Design optimal peptide antigens:
  • p15PAF (PAF_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15004

UniProtKB/Swiss-Prot:

PAF15_HUMAN :
  • The PIP-box mediates the interaction with PCNA (PubMed:21628590, PubMed:23000965).
Domain:
  • The PIP-box mediates the interaction with PCNA (PubMed:21628590, PubMed:23000965).
  • The KEN box is required for the association with the APC/C complex.
  • The D-box (destruction box) mediates the interaction with APC/C proteins, and acts as a recognition signal for degradation via the ubiquitin-proteasome pathway.
  • The initiation motif is required for efficient chain initiation by the APC/C complex E2 ligase UBE2C. It determines the rate of substrate's degradation without affecting its affinity for the APC/C, a mechanism used by the APC/C to control the timing of substrate proteolysis during the cell cycle (PubMed:21700221).
genes like me logo Genes that share domains with PCLAF: view

Function for PCLAF Gene

Molecular function for PCLAF Gene

UniProtKB/Swiss-Prot Function:
PCNA-binding protein that acts as a regulator of DNA repair during DNA replication. Following DNA damage, the interaction with PCNA is disrupted, facilitating the interaction between monoubiquitinated PCNA and the translesion DNA synthesis DNA polymerase eta (POLH) at stalled replisomes, facilitating the bypass of replication-fork-blocking lesions. Also acts as a regulator of centrosome number.
UniProtKB/Swiss-Prot Induction:
By UV irradiation. By ATF3 in response to UV-stress.

Phenotypes From GWAS Catalog for PCLAF Gene

Gene Ontology (GO) - Molecular Function for PCLAF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IBA,IDA 23000965
GO:0005515 protein binding IPI 21628590
genes like me logo Genes that share ontologies with PCLAF: view
genes like me logo Genes that share phenotypes with PCLAF: view

Animal Models for PCLAF Gene

MGI Knock Outs for PCLAF:
  • Pclaf Pclaf<tm1.1Lkd>
  • Pclaf Pclaf<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for PCLAF Gene

miRTarBase miRNAs that target PCLAF

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCLAF

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PCLAF Gene

Localization for PCLAF Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCLAF Gene

Nucleus. Cytoplasm, perinuclear region. Note=Following DNA damage, localizes to DNA damage sites (PubMed:21628590). Colocalizes with centrosomes in perinuclear region (PubMed:21673012).

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCLAF gene
Compartment Confidence
nucleus 5
cytoskeleton 4
mitochondrion 4
cytosol 3
plasma membrane 2
extracellular 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PCLAF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 21628590
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA --
GO:0048471 perinuclear region of cytoplasm IEA,IDA 21673012
genes like me logo Genes that share ontologies with PCLAF: view

Pathways & Interactions for PCLAF Gene

genes like me logo Genes that share pathways with PCLAF: view

SIGNOR curated interactions for PCLAF Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PCLAF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006260 DNA replication IDA 23000965
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA,IDA 21628590
GO:0007098 centrosome cycle IMP 21673012
GO:0009411 response to UV IDA 23000965
genes like me logo Genes that share ontologies with PCLAF: view

Drugs & Compounds for PCLAF Gene

No Compound Related Data Available

Transcripts for PCLAF Gene

mRNA/cDNA for PCLAF Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCLAF

Alternative Splicing Database (ASD) splice patterns (SP) for PCLAF Gene

No ASD Table

Relevant External Links for PCLAF Gene

GeneLoc Exon Structure for
PCLAF

Expression for PCLAF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PCLAF

mRNA Expression by UniProt/SwissProt for PCLAF Gene:

Q15004-PAF15_HUMAN
Tissue specificity: Expressed predominantly in liver, pancreas and placenta. Not detected in heart or brain. Highly expressed in a number of tumors, especially esophageal tumors, in anaplastic thyroid carcinomas, adrenocortical carcinomas, and in non-small-cell lung cancer lines.

Evidence on tissue expression from TISSUES for PCLAF Gene

  • Nervous system(4.9)
  • Bone marrow(4.6)
  • Adrenal gland(4.2)
  • Blood(3.9)
  • Liver(3)
  • Intestine(2.8)
  • Lung(2.8)
  • Heart(2.7)
  • Lymph node(2.6)
  • Skin(2.6)
  • Spleen(2.4)
  • Muscle(2.3)
  • Stomach(2.2)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with PCLAF: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PCLAF Gene

Orthologs for PCLAF Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCLAF Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KIAA0101 30 31
  • 99.1 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PAF 31
  • 91 (a)
OneToOne
KIAA0101 30
  • 90.09 (n)
Rat
(Rattus norvegicus)
Mammalia Ns5atp9 30
  • 86.06 (n)
Mouse
(Mus musculus)
Mammalia 2810417H13Rik 30 31
  • 84.85 (n)
OneToOne
Pclaf 17
Oppossum
(Monodelphis domestica)
Mammalia KIAA0101 31
  • 73 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KIAA0101 31
  • 70 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia KIAA0101 31
  • 63 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KIAA0101 31
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kiaa0101 30
  • 63.11 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100333229 30
  • 54.21 (n)
Dr.12145 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8724 30
Species where no ortholog for PCLAF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PCLAF Gene

ENSEMBL:
Gene Tree for PCLAF (if available)
TreeFam:
Gene Tree for PCLAF (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PCLAF: view image

Paralogs for PCLAF Gene

Paralogs for PCLAF Gene

genes like me logo Genes that share paralogs with PCLAF: view

Variants for PCLAF Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PCLAF Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs11554313 - p.Glu79Lys

Additional dbSNP identifiers (rs#s) for PCLAF Gene

Structural Variations from Database of Genomic Variants (DGV) for PCLAF Gene

Variant ID Type Subtype PubMed ID
dgv1224n106 CNV deletion 24896259
esv1497681 CNV deletion 17803354
esv2319425 CNV deletion 18987734
esv2675981 CNV deletion 23128226
esv2749782 CNV deletion 23290073
esv2749783 CNV deletion 23290073
esv3337124 CNV insertion 20981092
esv3552562 CNV deletion 23714750
esv3636733 CNV loss 21293372
esv3892709 CNV loss 25118596
esv4243 CNV loss 18987735
nsv94581 CNV deletion 16902084

Variation tolerance for PCLAF Gene

Residual Variation Intolerance Score: 52.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.04; 21.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCLAF Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCLAF

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCLAF Gene

Disorders for PCLAF Gene

MalaCards: The human disease database

(13) MalaCards diseases for PCLAF Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
thyroid carcinoma
  • thyroid cancer
heart conduction disease
  • heart rhythm disease
posterolateral myocardial infarction
cardiac tamponade
  • pericardial tamponade
anaerobic pneumonia
  • pneumonia due to anaerobes
- elite association - COSMIC cancer census association via MalaCards
Search PCLAF in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with PCLAF: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PCLAF Gene

Publications for PCLAF Gene

  1. p15(PAF), a novel PCNA associated factor with increased expression in tumor tissues. (PMID: 11313979) Yu P … Luo Y (Oncogene 2001) 2 3 4 23
  2. The PCNA-associated factor KIAA0101/p15(PAF) binds the potential tumor suppressor product p33ING1b. (PMID: 16288740) Simpson F … Wicking C (Experimental cell research 2006) 2 3 4
  3. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PMID: 23000965) Povlsen LK … Choudhary C (Nature cell biology 2012) 3 4
  4. KIAA0101 interacts with BRCA1 and regulates centrosome number. (PMID: 21673012) Kais Z … Parvin JD (Molecular cancer research : MCR 2011) 3 4
  5. Proliferating cell nuclear antigen (PCNA)-associated KIAA0101/PAF15 protein is a cell cycle-regulated anaphase-promoting complex/cyclosome substrate. (PMID: 21628590) Emanuele MJ … Elledge SJ (Proceedings of the National Academy of Sciences of the United States of America 2011) 3 4

Products for PCLAF Gene

Sources for PCLAF Gene