PNN pinin, desmosome associated protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: PNNprovided by HGNC
Official Full Name: pinin, desmosome associated proteinprovided by HGNC
Primary source: HGNC:HGNC:9162
See related: Ensembl:ENSG00000100941 MIM:603154; AllianceGenome:HGNC:9162
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DRS; DRSP; SDK3; memA
Summary: Enables RNA binding activity. Predicted to be involved in cell adhesion and mRNA splicing, via spliceosome. Predicted to act upstream of or within cell-cell adhesion. Located in exon-exon junction complex and nuclear speck. Part of catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in bone marrow (RPKM 45.1), lymph node (RPKM 42.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q21.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (39175254..39183220)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (33363935..33371901)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (39644458..39652424)

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?

Identification of a Novel miR-195-5p/PNN Axis in Colorectal Cancer.
Title: Identification of a Novel miR-195-5p/PNN Axis in Colorectal Cancer.
Methyltransferase like 3 enhances pinin mRNA stability through N(6) -methyladenosine modification to augment tumourigenesis of colon adenocarcinoma.
Title: Methyltransferase like 3 enhances pinin mRNA stability through N(6) -methyladenosine modification to augment tumourigenesis of colon adenocarcinoma.
The prognostic effect of PNN in digestive tract cancers and its correlation with the tumor immune landscape in colon adenocarcinoma.
Title: The prognostic effect of PNN in digestive tract cancers and its correlation with the tumor immune landscape in colon adenocarcinoma.
Hsa_circ_0032463 acts as the tumor promoter in osteosarcoma by regulating the miR3303p/PNN axis.
Title: Hsa_circ_0032463 acts as the tumor promoter in osteosarcoma by regulating the miR‑330‑3p/PNN axis.
Pinin acts as a poor prognostic indicator for renal cell carcinoma by reducing apoptosis and promoting cell migration and invasion.
Title: Pinin acts as a poor prognostic indicator for renal cell carcinoma by reducing apoptosis and promoting cell migration and invasion.
It has been shown that in the absence of piRNAs, human PIWIL1 in pancreatic ductal adenocarcinoma (PDAC) functions as an oncoprotein by activating the anaphase promoting complex/cyclosome (APC/C) E3 complex, which then targets a critical cell adhesion-related protein, Pinin, to enhance PDAC metastasis.
Title: piRNA-independent function of PIWIL1 as a co-activator for anaphase promoting complex/cyclosome to drive pancreatic cancer metastasis.
By a transcriptomic approach and validates PNN and KCNQ1OT1 as molecular biomarkers.
Title: RNA sequencing reveals PNN and KCNQ1OT1 as predictive biomarkers of clinical outcome in stage III colorectal cancer patients treated with adjuvant chemotherapy.
Data suggest that SNRPA1, SNRPD1, and PNN are key players in the regulation of pluripotency-specific spliceosome assembly and the acquisition and maintenance of pluripotency.
Title: The unique spliceosome signature of human pluripotent stem cells is mediated by SNRPA1, SNRPD1, and PNN.
Pinin contributes to hepatocellular carcinoma progression and resistance to glucose deprivation-induced apoptosis via maintaining ERK1/2 activation
Title: Pinin associates with prognosis of hepatocellular carcinoma through promoting cell proliferation and suppressing glucose deprivation-induced apoptosis.
Our findings suggested that PNN, as a valuable marker of prognosis, has important influence on the progression of colorectal cancer
Title: Pinin facilitated proliferation and metastasis of colorectal cancer through activating EGFR/ERK signaling pathway.

Submit: New GeneRIF Correction See all GeneRIFs (22)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G54093 (e-PCR)
- UniSTS:109330

OPRM1 (e-PCR)
- UniSTS:278868

NoName (e-PCR)
- UniSTS:532324

Pnn (e-PCR), detects polymorphism
- UniSTS:532324

D14S1290 (e-PCR)
- UniSTS:12907

RH44450 (e-PCR)
- UniSTS:53613

G20375 (e-PCR)
- UniSTS:20088

A005O20 (e-PCR)
- UniSTS:20089

RH160 (e-PCR)
- UniSTS:45961

Pnn (e-PCR), detects polymorphism
- UniSTS:496522

PNN (e-PCR)
- UniSTS:503183

SGC31797 (e-PCR)
- UniSTS:23986

D12Ertd512e (e-PCR), detects polymorphism
- UniSTS:167090

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural molecule activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cell adhesion	TAS Traceable Author Statement more info	PubMed
involved_in mRNA splicing, via spliceosome	IC Inferred by Curator more info	PubMed

Component	Evidence Code	Pubs
part_of catalytic step 2 spliceosome	IBA Inferred from Biological aspect of Ancestor more info
part_of catalytic step 2 spliceosome	IDA Inferred from Direct Assay more info	PubMed
located_in cell-cell junction	TAS Traceable Author Statement more info	PubMed
located_in desmosome	IEA Inferred from Electronic Annotation more info
part_of exon-exon junction complex	IDA Inferred from Direct Assay more info	PubMed
located_in intermediate filament	TAS Traceable Author Statement more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: pinin

Names: 140 kDa nuclear and cell adhesion-related phosphoprotein; SR-like protein; desmosome-associated protein; domain-rich serine protein; melanoma metastasis clone A protein; neutrophil protein; nuclear protein SDK3

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.

mRNA and Protein(s)

NM_002687.4 → NP_002678.3 pinin

Status: VALIDATED

Source sequence(s)

AL132639

Consensus CDS

CCDS9671.1

UniProtKB/Swiss-Prot

B4DZX8, O60899, Q53EM7, Q6P5X4, Q7KYL1, Q99738, Q9H307, Q9UHZ9, Q9UQR9

UniProtKB/TrEMBL

A8K964

Related

ENSP00000216832.4, ENST00000216832.9

Conserved Domains (2) summary

pfam04696
Location:136 → 261

Pinin_SDK_memA; pinin/SDK/memA/ protein conserved region

pfam04697
Location:5 → 132

Pinin_SDK_N; pinin/SDK conserved region