POLDIP3 polymerase (DNA-directed), delta interacting protein 3 [Homo sapiens] - Gene

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Summary

Official Symbol: POLDIP3provided by HGNC
Official Full Name: polymerase (DNA-directed), delta interacting protein 3provided by HGNC
Primary source: HGNC:23782
Locus tag: RP1-222E13.9
See related: Ensembl:ENSG00000100227; HPRD:17875; MIM:611520; Vega:OTTHUMG00000150887
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SKAR; PDIP46; KIAA1649
Summary: This gene encodes a protein that interacts with the DNA polymerase delta p50 subunit. This protein is a specific target of S6 kinase 1 and regulates cell growth. Two transcript variants that encode different protein isoforms have been identified. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 22q13.2

Sequence :: Chromosome: 22; NC_000022.10 (42979727..43010962, complement)

See POLDIP3 in Epigenomics, MapViewer

Chromosome 22 - NC_000022.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

SKAR-mediated recruitment of activated S6K1 to newly processed mRNPs serves as a conduit between mTOR checkpoint signaling and the pioneer round of translation when cells exist in conditions supportive of protein synthesis.
Title: SKAR links pre-mRNA splicing to mTOR/S6K1-mediated enhanced translation efficiency of spliced mRNAs.
This study showed that PDIP46 aka SKAR, a protein possessing one RNA recognition motif (RRM) and being a protein partner of both the p50 subunit of DNA polymerase delta and p70 ribosomal protein S6 kinase 1 (S6K1).
Title: Human enhancer of rudimentary is a molecular partner of PDIP46/SKAR, a protein interacting with DNA polymerase delta and S6K1 and regulating cell growth.
SKAR is a specific target of S6K1 and regulates cell growth.
Title: SKAR is a specific target of S6 kinase 1 in cell growth control.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_115687.2	NP_006221.1	POLD2	BIND	PubMed	PDIP46 interacts with p50 subunit of DNA polymerase delta.
Q9BY77	P49005	POLD2	HPRD	PubMed
Q9BY77	P23443	RPS6KB1	HPRD	PubMed
BioGRID:123998	BioGRID:199505	Erh	BioGRID	PubMed	Affinity Capture-MS
BioGRID:123998	BioGRID:109318	HDGF	BioGRID	PubMed	Affinity Capture-MS
BioGRID:123998	BioGRID:117417	POT1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:123998	BioGRID:112112	RPS6KB1	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity; Two-hybrid
BioGRID:123998	BioGRID:112873	TERF2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:123998	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:123998	BioGRID:116077	USP20	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
RNA binding	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
positive regulation of translation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	TAS Traceable Author Statement more info	PubMed
colocalizes_with exon-exon junction complex	IDA Inferred from Direct Assay more info	PubMed
intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info	PubMed
nuclear speck	IDA Inferred from Direct Assay more info	PubMed
NOT nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: polymerase delta-interacting protein 3

Names: polymerase delta-interacting protein 3; p46; RNA-binding protein P46; S6K1 Aly/REF-like target; polymerase delta interacting protein 46; 46 kDa DNA polymerase delta interaction protein

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_032311.3 → NP_115687.2 polymerase delta-interacting protein 3 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) is the longer transcript and it encodes the longer isoform (1).

Source sequence(s)

AL160111, BE268664

Consensus CDS

CCDS14038.1

UniProtKB/Swiss-Prot

Q9BY77

Related

ENSP00000252115, OTTHUMP00000198658, ENST00000252115, OTTHUMT00000320433

Conserved Domains (2) summary

COG0724
Location:275 – 407
Blast Score: 99

COG0724; RNA-binding proteins (RRM domain) [General function prediction only]

cd00590
Location:284 – 348
Blast Score: 146

RRM; RRM (RNA recognition motif), also known as RBD (RNA binding domain) or RNP (ribonucleoprotein domain), is a highly abundant domain in eukaryotes found in proteins involved in post-transcriptional gene expression processes including mRNA and rRNA ...
NM_178136.1 → NP_835237.1 polymerase delta-interacting protein 3 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame segment of the coding region, when compared to variant 1. The resulting protein (isoform 2) is shorter when compared to isoform 1.

Source sequence(s)

AL160112, BE268664

Consensus CDS

CCDS14039.1

UniProtKB/Swiss-Prot

Q9BY77

Related

ENSP00000252116, OTTHUMP00000198659, ENST00000348657, OTTHUMT00000320434

Conserved Domains (2) summary

COG0724
Location:246 – 378
Blast Score: 98

COG0724; RNA-binding proteins (RRM domain) [General function prediction only]

cd00590
Location:255 – 319
Blast Score: 145

RRM; RRM (RNA recognition motif), also known as RBD (RNA binding domain) or RNP (ribonucleoprotein domain), is a highly abundant domain in eukaryotes found in proteins involved in post-transcriptional gene expression processes including mRNA and rRNA ...

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000022.10 Reference GRCh37.p5 Primary Assembly

Range

42979727..43010962, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000154.1 Alternate HuRef

Range

25940392..25971593, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AY422990.1	AAQ94604.1
genomic	CH471138.1	EAW73264.1
		EAW73265.1
		EAW73266.1
		EAW73267.1
genomic	Z93241.11	CAI19835.1
		CAQ08413.1
genomic	Z93241.11	CAI19835.1
		CAQ08413.1
mRNA	AB055760.2	BAB33368.2
mRNA	AK024626.1	None
mRNA	AK291623.1	BAF84312.1
mRNA	AK291774.1	BAF84463.1
mRNA	AK297532.1	BAG59934.1
mRNA	AK299751.1	BAG61641.1
mRNA	AK303419.1	BAG64472.1
mRNA	AL080227.1	None
mRNA	AL137743.1	CAH56378.1
mRNA	AL160111.1	CAB77058.1
mRNA	AL160112.1	CAB77059.1
mRNA	AY506562.1	AAR91612.1
mRNA	BC001488.2	AAH01488.2
mRNA	BC007397.2	None
mRNA	BC019643.1	AAH19643.1
mRNA	BC049840.1	AAH49840.1
mRNA	BC056912.1	AAH56912.2
mRNA	BC095411.1	AAH95411.1
mRNA	BE268664.1	None
mRNA	CR456456.1	CAG30342.1
mRNA	DQ887818.1	ABI74675.1
other-genetic	CU013006.1	CAK54437.1
other-genetic	CU013294.1	CAK54736.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q659C6	GenPept	UniProtKB/TrEMBL:Q659C6
Q6R954	GenPept	UniProtKB/TrEMBL:Q6R954
Q8WUT1	GenPept	UniProtKB/TrEMBL:Q8WUT1
Q96DI9	GenPept	UniProtKB/TrEMBL:Q96DI9
Q9BY77.2	GenPept	UniProtKB/Swiss-Prot:Q9BY77