PIN4 peptidylprolyl cis/trans isomerase, NIMA-interacting 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PIN4provided by HGNC
Official Full Name: peptidylprolyl cis/trans isomerase, NIMA-interacting 4provided by HGNC
Primary source: HGNC:HGNC:8992
See related: Ensembl:ENSG00000102309 MIM:300252; AllianceGenome:HGNC:8992
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: EPVH; PAR14; PAR17; hEPVH; hPar14; hPar17
Summary: This gene encodes a member of the parvulin subfamily of the peptidyl-prolyl cis/trans isomerase protein family. The encoded protein catalyzes the isomerization of peptidylprolyl bonds, and may play a role in the cell cycle, chromatin remodeling, and/or ribosome biogenesis. The encoded protein may play an additional role in the mitochondria. [provided by RefSeq, Dec 2009]
Expression: Ubiquitous expression in liver (RPKM 5.5), kidney (RPKM 4.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq13.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (72181676..72263964)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (70614580..70696859)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (71401526..71483814)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Par14 interacts with the androgen receptor, augmenting both its transcriptional activity and prostate cancer proliferation.
Title: Par14 interacts with the androgen receptor, augmenting both its transcriptional activity and prostate cancer proliferation.
In the presence of HBx, the Par14 and Par17 proteins bound to cccDNA.
Title: Parvulin 14 and Parvulin 17 Bind to HBx and cccDNA and Upregulate Hepatitis B Virus Replication from cccDNA to Virion in an HBx-Dependent Manner.
Numerous other proteins in addition to PIN1 are endowed with PPIase activity. These include other members of the parvulin family to which PIN1 belongs, such as PIN4, as well as several cyclophilins and FK506-binding proteins...This review will discuss studies providing evidence for multiple roles of PIN1 and other PPIases in glioblastoma and medulloblastoma, the most frequent adult and pediatric primary brain tumors.
Title: The Multiple Roles of Peptidyl Prolyl Isomerases in Brain Cancer.
Par14 can be described as an endogenous non-histone chromatin protein, which binds DNA in vivo
Title: Human DNA-binding peptidyl-prolyl cis/trans isomerase Par14 is cell cycle dependently expressed and associates with chromatin in vivo.
Ca(2+)/Calmodulin binding to the N-terminal of Par17 causes steric hindrance of the Par17 active site, thus interfering with the Par17/tubulin interaction.
Title: Parvulin 17-catalyzed Tubulin Polymerization Is Regulated by Calmodulin in a Calcium-dependent Manner.
Data indicate that Pin1 prolyl isomerase active site cysteine, Cys113, is highly susceptible to oxidation.
Title: Peroxide-mediated oxidation and inhibition of the peptidyl-prolyl isomerase Pin1.
Data indicate the association of Par14 with insulin receptor substrate 1 (IRS-1) in human HepG2 cells overexpressing both as well as endogenously in the mouse liver.
Title: Par14 protein associates with insulin receptor substrate 1 (IRS-1), thereby enhancing insulin-induced IRS-1 phosphorylation and metabolic actions.
Identification of a longer Parvulin isoform (Par17) that has an extension at the 5' end including a 75 bp extended open reading frame.
Title: Characterization of novel elongated Parvulin isoforms that are ubiquitously expressed in human tissues and originate from alternative transcription initiation.
The N-terminal basic domain of human parvulin hPar14 is responsible for the entry to the nucleus and high-affinity DNA-binding.
Title: The N-terminal basic domain of human parvulin hPar14 is responsible for the entry to the nucleus and high-affinity DNA-binding.
subcellular localization and DNA binding properties of hPar14 are regulated by phosphorylation of the N-terminal domain
Title: Phosphorylation of the N-terminal domain regulates subcellular localization and DNA binding properties of the peptidyl-prolyl cis/trans isomerase hPar14.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G59402 (e-PCR)
- UniSTS:136714

DXS6732 (e-PCR)
- UniSTS:2324

PMC156606P3 (e-PCR)
- UniSTS:271410

D8S2279 (e-PCR)
- UniSTS:473907

REN38008 (e-PCR)
- UniSTS:362808

AF020179 (e-PCR)
- UniSTS:76860

PIN4_1037 (e-PCR)
- UniSTS:277585

RH98807 (e-PCR)
- UniSTS:87415

RH93163 (e-PCR)
- UniSTS:84652

RH80498 (e-PCR)
- UniSTS:86200

AF020151 (e-PCR)
- UniSTS:22237

DXS7706 (e-PCR)
- UniSTS:65246

SGC38245 (e-PCR)
- UniSTS:11748

NoName (e-PCR)
- UniSTS:484351

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 bent DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables peptidyl-prolyl cis-trans isomerase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in rRNA processing	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in chromosome	IDA Inferred from Direct Assay more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of preribosome	IDA Inferred from Direct Assay more info	PubMed
located_in spindle	IDA Inferred from Direct Assay more info	PubMed
located_in spindle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: peptidyl-prolyl cis-trans isomerase NIMA-interacting 4

Names: PPIase PIN4; eukaryotic parvulin homolog; parvulin; parvulin-14; parvulin-17; peptidyl-prolyl cis-trans isomerase Pin4; peptidyl-prolyl cis/trans isomerase EPVH; protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin); rotamase PIN4

NP_001164218.1

EC 5.2.1.8

NP_006214.3

EC 5.2.1.8

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_016328.1 RefSeqGene

Range

5082..21665

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001170747.1 → NP_001164218.1 peptidyl-prolyl cis-trans isomerase NIMA-interacting 4 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.

Source sequence(s)

AK127605, AU098526, AV709926

Consensus CDS

CCDS55447.1

UniProtKB/TrEMBL

H0Y8P6

Related

ENSP00000409154.2, ENST00000423432.6
NM_006223.4 → NP_006214.3 peptidyl-prolyl cis-trans isomerase NIMA-interacting 4 isoform 1

Status: REVIEWED

Description

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

Source sequence(s)

AL135749, AV709926, BC112281, BE504461

Consensus CDS

CCDS14417.2

UniProtKB/Swiss-Prot

A8E0G6, B3KXM0, F5H1P5, Q0D2H3, Q3MHV0, Q52M21, Q5HYW6, Q6IRW4, Q9Y237

Related

ENSP00000362773.3, ENST00000373669.8

Conserved Domains (1) summary

cl29122
Location:26 → 131

Rotamase_2; PPIC-type PPIASE domain

RNA

NR_033187.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AV709926, BC111394, BC112281, BE504461