Human Gene PCLAF (uc002ank.3)
  Description: Homo sapiens PCLAF (PCLAF), transcript variant 1, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr15:64,657,211-64,673,702 Size: 16,492 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr15:64,658,229-64,673,570 Size: 15,342 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:64,657,211-64,673,702)mRNA (may differ from genome)Protein (111 aa)
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-  Comments and Description Text from UniProtKB
  ID: PAF15_HUMAN
DESCRIPTION: RecName: Full=PCNA-associated factor; AltName: Full=Hepatitis C virus NS5A-transactivated protein 9; Short=HCV NS5A-transactivated protein 9; AltName: Full=Overexpressed in anaplastic thyroid carcinoma 1; Short=OEATC-1; AltName: Full=PCNA-associated factor of 15 kDa; Short=PAF15; Short=p15PAF;
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.
SUBUNIT: Interacts (when monoubiquitinated at Lys-15 and Lys-24) with PCNA. Interacts with isoform 2/p33ING1b of ING1. Interacts with BRCA1.
SUBCELLULAR LOCATION: Nucleus. Cytoplasm, perinuclear region. Note=Following DNA damage, localizes to DNA damage sites. Colocalizes with centrosomes in perinuclear region.
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.
DEVELOPMENTAL STAGE: Present only during S and G2 phases of the cell cycle. Peaks at the G2/M phase of the cell cycle and drops rapidly at mitotic exit in an APC/C-dependent manner (at protein level).
INDUCTION: By UV irradiation. By ATF3 in response to UV-stress.
DOMAIN: The PIP-box mediates the interaction with PCNA (PubMed:21628590, PubMed:23000965).
DOMAIN: The KEN box is required for the association with the APC/C complex (PubMed:21628590).
DOMAIN: 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 (By similarity).
DOMAIN: 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).
PTM: 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.
MISCELLANEOUS: Overexpression in adrenocortical neoplasms (ACC), may promote growth and invasion in adrenal cancer (PubMed:22096502).
SEQUENCE CAUTION: Sequence=BAA03491.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PCLAF
Diseases sorted by gene-association score: posterolateral myocardial infarction (3), hepatitis c virus (2), heart conduction disease (2), lateral myocardial infarction (2), blue toe syndrome (1), erysipeloid (1), posterior myocardial infarction (1), space motion sickness (1), critical illness polyneuropathy (1)

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 29.13 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 53.27 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -37.50132-0.284 Picture PostScript Text
3' UTR -290.801018-0.286 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF15715 - PCNA-associated factor

ModBase Predicted Comparative 3D Structure on Q15004
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003682 chromatin binding
GO:0005515 protein binding

Biological Process:
GO:0006260 DNA replication
GO:0006281 DNA repair
GO:0006974 cellular response to DNA damage stimulus
GO:0007098 centrosome cycle
GO:0009411 response to UV
GO:0019985 translesion synthesis
GO:0051726 regulation of cell cycle

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AK301858 - Homo sapiens cDNA FLJ58702 complete cds, highly similar to Casein kinase I isoform gamma-1 (EC 2.7.11.1).
BC005832 - Homo sapiens KIAA0101, mRNA (cDNA clone MGC:2250 IMAGE:2988995), complete cds.
BC016782 - Homo sapiens KIAA0101, mRNA (cDNA clone MGC:23764 IMAGE:4109322), complete cds.
BC007101 - Homo sapiens KIAA0101, mRNA (cDNA clone MGC:14744 IMAGE:4281110), complete cds.
D14657 - Homo sapiens KIAA0101 mRNA.
JD048923 - Sequence 29947 from Patent EP1572962.
AK290748 - Homo sapiens cDNA FLJ76548 complete cds.
JD348726 - Sequence 329750 from Patent EP1572962.
JD235194 - Sequence 216218 from Patent EP1572962.
JD562713 - Sequence 543737 from Patent EP1572962.
AF529370 - Homo sapiens NS5ATP9 (NS5ATP9) mRNA, complete cds.
AY598324 - Homo sapiens L5 mRNA, complete cds.
CU675545 - Synthetic construct Homo sapiens gateway clone IMAGE:100018494 5' read KIAA0101 mRNA.
HQ447907 - Synthetic construct Homo sapiens clone IMAGE:100071263; CCSB004523_01 KIAA0101 (KIAA0101) gene, encodes complete protein.
KJ892844 - Synthetic construct Homo sapiens clone ccsbBroadEn_02238 KIAA0101 gene, encodes complete protein.
AB463081 - Synthetic construct DNA, clone: pF1KA0101, Homo sapiens KIAA0101 gene, without stop codon, in Flexi system.
JD525852 - Sequence 506876 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q15004 (Reactome details) participates in the following event(s):

R-HSA-5656169 Termination of translesion DNA synthesis
R-HSA-110313 Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template
R-HSA-73893 DNA Damage Bypass
R-HSA-73894 DNA Repair

-  Other Names for This Gene
  Alternate Gene Symbols: A8K3Y3, G9G694, G9G696, KIAA0101, L5, NM_014736, NP_055551, NS5ATP9, PAF, PAF15_HUMAN, Q15004
UCSC ID: uc002ank.3
RefSeq Accession: NM_014736
Protein: Q15004 (aka PAF15_HUMAN)
CCDS: CCDS10193.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_014736.4
exon count: 4CDS single in 3' UTR: no RNA size: 1508
ORF size: 336CDS single in intron: no Alignment % ID: 99.93
txCdsPredict score: 872.00frame shift in genome: no % Coverage: 98.54
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 962# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.