POLDIP3 (DNA polymerase delta interacting protein 3)

2014-11-01  

Identity

HGNC
POLDIP3
LOCATION
22q13.2
LOCUSID
84271
ALIAS
PDIP3,PDIP46,SKAR
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84271
MIM: 611520
HGNC: 23782
Ensembl: ENSG00000100227

Variants:

dbSNP: 84271
ClinVar: 84271
TCGA: ENSG00000100227
COSMIC: POLDIP3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100227ENST00000252115Q9BY77
ENSG00000100227ENST00000339677Q6R954
ENSG00000100227ENST00000348657Q9BY77
ENSG00000100227ENST00000445215F8WCX5
ENSG00000100227ENST00000451060F6VRR5
ENSG00000100227ENST00000454057F8WEE2
ENSG00000100227ENST00000617178Q8WUT1

Expression (GTEx)

0
50
100
150
200
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase II TranscriptionREACTOMER-HSA-73857
RNA Polymerase II Transcription TerminationREACTOMER-HSA-73856
Cleavage of Growing Transcript in the Termination RegionREACTOMER-HSA-109688
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA 3'-end processingREACTOMER-HSA-72187
Transport of Mature Transcript to CytoplasmREACTOMER-HSA-72202
Transport of Mature mRNA derived from an Intron-Containing TranscriptREACTOMER-HSA-159236

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
184232012008SKAR links pre-mRNA splicing to mTOR/S6K1-mediated enhanced translation efficiency of spliced mRNAs.124
153417402004SKAR is a specific target of S6 kinase 1 in cell growth control.64
229000962012Alteration of POLDIP3 splicing associated with loss of function of TDP-43 in tissues affected with ALS.24
169843962006Human enhancer of rudimentary is a molecular partner of PDIP46/SKAR, a protein interacting with DNA polymerase delta and S6K1 and regulating cell growth.20
229280372012The proteins PDIP3 and ZC11A associate with the human TREX complex in an ATP-dependent manner and function in mRNA export.14
253785562015Nuclear TDP-43 causes neuronal toxicity by escaping from the inhibitory regulation by hnRNPs.13
250493932014Regulatory effects of SKAR in interferon α signaling and its role in the generation of type I IFN responses.5
268193722016PDIP46 (DNA polymerase δ interacting protein 46) is an activating factor for human DNA polymerase δ.5

Citation

Dessen P

POLDIP3 (DNA polymerase delta interacting protein 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72046/poldip3