PAPOLA poly(A) polymerase alpha [Homo sapiens (human)] - Gene

Summary

Official Symbol: PAPOLAprovided by HGNC
Official Full Name: poly(A) polymerase alphaprovided by HGNC
Primary source: HGNC:HGNC:14981
See related: Ensembl:ENSG00000090060 MIM:605553; AllianceGenome:HGNC:14981
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: PAP; PAP-alpha
Summary: The protein encoded by this gene belongs to the poly(A) polymerase family. It is required for the addition of adenosine residues for the creation of the 3'-poly(A) tail of mRNAs. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Expression: Ubiquitous expression in testis (RPKM 27.7), thyroid (RPKM 22.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q32.2

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (96502376..96567116)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (90733979..90798717)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (96968713..97033453)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PAPOLA contributes to cyclin D1 mRNA alternative polyadenylation and promotes breast cancer cell proliferation.
Title: PAPOLA contributes to cyclin D1 mRNA alternative polyadenylation and promotes breast cancer cell proliferation.
Whereas PABPN1 strongly increases the activity of its cognate poly(A) polymerase in vitro, Pab2 was unable to stimulate Pla1 to any significant extent.
Title: The nuclear poly(A) binding protein of mammals, but not of fission yeast, participates in mRNA polyadenylation.
Lack of CstF-64 binding excludes PAPalpha from Star-PAP target pre-mRNA UTRs.CstF-64 and 3'-UTR cis-element determine Star-PAP specificity for target mRNA selection by excluding poly A polymerase.
Title: CstF-64 and 3'-UTR cis-element determine Star-PAP specificity for target mRNA selection by excluding PAPα.
The ability of PABPN1 to promote splicing requires its RNA binding and, to a lesser extent, poly(A)polymerase (PAP) - stimulatory functions.
Title: Poly(A) Polymerase and the Nuclear Poly(A) Binding Protein, PABPN1, Coordinate the Splicing and Degradation of a Subset of Human Pre-mRNAs.
Observations imply that translational regulation is among the conserved mechanisms regulating PAPOLA expression.
Title: The structure of the 5'-untranslated region of mammalian poly(A) polymerase-alpha mRNA suggests a mechanism of translational regulation.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	The poly(A) site in the HIV-1 5'-LTR is occluded in a Tat-dependent manner, suggesting a role for Tat in regulating this nucleotide signal	PubMed
Vpr	vpr	HIV-1 Vpr dephosphorylates poly(A) polymerase (PAP), presumably through inhibition of the p34cdc2/cyclin B kinase complex, leading to enhanced PAP activity	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-13790 (e-PCR)
- UniSTS:81416

RH68570 (e-PCR)
- UniSTS:26896

D14S720E (e-PCR)
- UniSTS:151594

SHGC-132361 (e-PCR)
- UniSTS:170794

G35681 (e-PCR)
- UniSTS:23628

A006O03 (e-PCR)
- UniSTS:56398

L18426 (e-PCR)
- UniSTS:34648

D1S1423 (e-PCR)
- UniSTS:149619

SHGC-67307 (e-PCR)
- UniSTS:89991

RH68050 (e-PCR)
- UniSTS:85905

WI-15985 (e-PCR)
- UniSTS:81327

SHGC-23980 (e-PCR)
- UniSTS:18100

RH103398 (e-PCR)
- UniSTS:97724

G35762 (e-PCR)
- UniSTS:52715

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	ISS Inferred from Sequence or Structural Similarity more info
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables magnesium ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables manganese ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables poly(A) RNA polymerase activity	IBA Inferred from Biological aspect of Ancestor more info
enables poly(A) RNA polymerase activity	IDA Inferred from Direct Assay more info	PubMed
enables poly(A) RNA polymerase activity	ISS Inferred from Sequence or Structural Similarity more info
enables poly(A) RNA polymerase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in co-transcriptional mRNA 3'-end processing, cleavage and polyadenylation pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cytosolic mRNA polyadenylation	IEA Inferred from Electronic Annotation more info
involved_in mRNA 3'-end processing	IDA Inferred from Direct Assay more info	PubMed
involved_in mRNA 3'-end processing	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: poly(A) polymerase alpha

Names: polynucleotide adenylyltransferase alpha

NP_001238935.1

EC 2.7.7.19

NP_001238936.1

EC 2.7.7.19

NP_001280556.1

EC 2.7.7.19

NP_001280557.1

EC 2.7.7.19

NP_001280561.1

EC 2.7.7.19

NP_001350591.1

EC 2.7.7.19

NP_001350593.1

EC 2.7.7.19

NP_001350594.1

EC 2.7.7.19

NP_001350595.1

EC 2.7.7.19

NP_116021.2

EC 2.7.7.19

NCBI Reference Sequences (RefSeq)

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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.

Genomic

NG_030439.1 RefSeqGene

Range

5007..69741

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001252006.1 → NP_001238935.1 poly(A) polymerase alpha isoform 2

See identical proteins and their annotated locations for NP_001238935.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks multiple exons and its transcription extends past a splice site that is used in variant 1, resulting in a novel 3' coding region and 3' UTR compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AL163051, BX089817, BX248753, DB045100

Consensus CDS

CCDS58334.1

UniProtKB/Swiss-Prot

P51003

Related

ENSP00000450437.1, ENST00000557320.5

Conserved Domains (1) summary

pfam04928
Location:21 → 279

PAP_central; Poly(A) polymerase central domain
NM_001252007.1 → NP_001238936.1 poly(A) polymerase alpha isoform 3

See identical proteins and their annotated locations for NP_001238936.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks multiple exons and its transcription extends past a splice site that is used in variant 1, resulting in a novel 3' coding region and 3' UTR compared to variant 1. It encodes isoform 3 which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AL163051, BX089817, BX161482, DB045100

Consensus CDS

CCDS58335.1

UniProtKB/TrEMBL

A0A0C4DGK1

Related

ENSP00000450812.1, ENST00000557471.5

Conserved Domains (1) summary

cl11966
Location:21 → 205

NT_Pol-beta-like; Nucleotidyltransferase (NT) domain of DNA polymerase beta and similar proteins
NM_001293627.1 → NP_001280556.1 poly(A) polymerase alpha isoform 4

See identical proteins and their annotated locations for NP_001280556.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) has an alternate splice site in the 3' coding region, compared to variant 1. The resulting isoform (4) lacks an internal aa, compared to isoform 1.

Source sequence(s)

BC015150, BC036014, CD655865, DB483858

UniProtKB/TrEMBL

B4DYF4

Conserved Domains (2) summary

pfam04926
Location:366 → 495

PAP_RNA-bind; Poly(A) polymerase predicted RNA binding domain

pfam04928
Location:21 → 363

PAP_central; Poly(A) polymerase central domain
NM_001293628.2 → NP_001280557.1 poly(A) polymerase alpha isoform 5

See identical proteins and their annotated locations for NP_001280557.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) has an alternate 5' terminal exon, which results in a downstream AUG start codon, compared to variant 1. The resulting isoform (5) has a shorter N-terminus, compared to isoform 1. Both variants 5 and 6 encode the same isoform 5.

Source sequence(s)

AL163051, BC036014, BX248301, CD655865

Conserved Domains (3) summary

cl11966
Location:1 → 113

NT_Pol-beta-like; Nucleotidyltransferase (NT) domain of DNA polymerase beta and similar proteins

cl26091
Location:251 → 396

MotB_plug; Membrane MotB of proton-channel complex MotA/MotB

cl27098
Location:1 → 317

PAP_RNA-bind; Poly(A) polymerase predicted RNA binding domain
NM_001293632.3 → NP_001280561.1 poly(A) polymerase alpha isoform 5

See identical proteins and their annotated locations for NP_001280561.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks two consecutive exons in the 5' region, which results in a downstream AUG start codon, compared to variant 1. The resulting isoform (5) has a shorter N-terminus, compared to isoform 1. Both variants 5 and 6 encode the same isoform 5.

Source sequence(s)

AK307659, AL163051, BC036014, DB483858

Conserved Domains (3) summary

cl11966
Location:1 → 113

NT_Pol-beta-like; Nucleotidyltransferase (NT) domain of DNA polymerase beta and similar proteins

cl26091
Location:251 → 396

MotB_plug; Membrane MotB of proton-channel complex MotA/MotB

cl27098
Location:1 → 317

PAP_RNA-bind; Poly(A) polymerase predicted RNA binding domain
NM_001363662.3 → NP_001350591.1 poly(A) polymerase alpha isoform 6

Status: REVIEWED

Source sequence(s)

AL163051

Consensus CDS

CCDS86431.1

UniProtKB/TrEMBL

B4DHB8, G3XAH6

Related

ENSP00000376716.2, ENST00000392990.6

Conserved Domains (3) summary

PRK12799
Location:501 → 646

motB; flagellar motor protein MotB; Reviewed

pfam04926
Location:366 → 495

PAP_RNA-bind; Poly(A) polymerase predicted RNA binding domain

pfam04928
Location:21 → 363

PAP_central; Poly(A) polymerase central domain
NM_001363664.3 → NP_001350593.1 poly(A) polymerase alpha isoform 7

Status: REVIEWED

Source sequence(s)

AL163051

UniProtKB/TrEMBL

B4DHB8

Conserved Domains (3) summary

pfam04926
Location:366 → 495

PAP_RNA-bind; Poly(A) polymerase predicted RNA binding domain

pfam04928
Location:21 → 363

PAP_central; Poly(A) polymerase central domain

cl26091
Location:501 → 645

MotB_plug; Membrane MotB of proton-channel complex MotA/MotB
NM_001363665.3 → NP_001350594.1 poly(A) polymerase alpha isoform 8

Status: REVIEWED

Source sequence(s)

AL163051

UniProtKB/TrEMBL

B4DHB8

Conserved Domains (3) summary

PRK12799
Location:501 → 646

motB; flagellar motor protein MotB; Reviewed

pfam04926
Location:366 → 495

PAP_RNA-bind; Poly(A) polymerase predicted RNA binding domain

pfam04928
Location:21 → 363

PAP_central; Poly(A) polymerase central domain
NM_001363666.3 → NP_001350595.1 poly(A) polymerase alpha isoform 9

Status: REVIEWED

Source sequence(s)

AL163051

UniProtKB/TrEMBL

B4DHB8

Conserved Domains (3) summary

pfam04926
Location:366 → 495

PAP_RNA-bind; Poly(A) polymerase predicted RNA binding domain

pfam04928
Location:21 → 363

PAP_central; Poly(A) polymerase central domain

cl26091
Location:501 → 645

MotB_plug; Membrane MotB of proton-channel complex MotA/MotB
NM_032632.5 → NP_116021.2 poly(A) polymerase alpha isoform 1

See identical proteins and their annotated locations for NP_116021.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AL163051

Consensus CDS

CCDS9946.1

UniProtKB/Swiss-Prot

P51003, Q86SX4, Q86TV0, Q8IYF5, Q9BVU2

UniProtKB/TrEMBL

B4DYF4

Related

ENSP00000216277.8, ENST00000216277.13

Conserved Domains (3) summary

PRK12799
Location:501 → 646

motB; flagellar motor protein MotB; Reviewed

pfam04926
Location:366 → 495

PAP_RNA-bind; Poly(A) polymerase predicted RNA binding domain

pfam04928
Location:21 → 363

PAP_central; Poly(A) polymerase central domain