PACRG parkin coregulated [Homo sapiens (human)] - Gene

Summary

Official Symbol: PACRGprovided by HGNC
Official Full Name: parkin coregulatedprovided by HGNC
Primary source: HGNC:HGNC:19152
See related: Ensembl:ENSG00000112530 MIM:608427; AllianceGenome:HGNC:19152
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: GLUP; pf12; BUG21; PACRG2.1; PARK2CRG; HAK005771
Summary: This gene encodes a protein that is conserved across metazoans. In vertebrates, this gene is linked in a head-to-head arrangement with the adjacent parkin gene, which is associated with autosomal recessive juvenile Parkinson's disease. These genes are co-regulated in various tissues and they share a bi-directional promoter. Both genes are associated with susceptibility to leprosy. The parkin co-regulated gene protein forms a large molecular complex with chaperones, including heat shock proteins 70 and 90, and chaperonin components. This protein is also a component of Lewy bodies in Parkinson's disease patients, and it suppresses unfolded Pael receptor-induced neuronal cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 6q26

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (162727132..163315500)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (164090091..164679096)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (163148164..163736532)

Chromosome 6 - NC_000006.12 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?

Crystal structure of human PACRG in complex with MEIG1 reveals roles in axoneme formation and tubulin binding.
Title: Crystal structure of human PACRG in complex with MEIG1 reveals roles in axoneme formation and tubulin binding.
Associations of PRKN-PACRG SNPs and G x G and G x E interactions with the risk of hyperlipidaemia.
Title: Associations of PRKN-PACRG SNPs and G × G and G × E interactions with the risk of hyperlipidaemia.
The parkin-coregulated gene product PACRG promotes TNF signaling by stabilizing LUBAC.
Title: The parkin-coregulated gene product PACRG promotes TNF signaling by stabilizing LUBAC.
Mapping of the PARK2 and PACRG gene regulatory region with 96 SNPs, with a resolution of 1 SNP per 1 Kb for PARK2 gene regulatory region in a North Indian population, showed an involvement of 11 SNPs in determining the susceptibility towards leprosy.
Title: Mapping of PARK2 and PACRG overlapping regulatory region reveals LD structure and functional variants in association with leprosy in unrelated indian population groups.
PARK2 and PACRG are commonly downregulated in clear-cell renal cell carcinoma and are associated with aggressive disease and poor clinical outcome.
Title: PARK2 and PACRG are commonly downregulated in clear-cell renal cell carcinoma and are associated with aggressive disease and poor clinical outcome.
conducted high-density association mapping of PARK2/PACRG SNPs with leprosy and identified 69 SNPs significantly associated with leprosy in 198 single-case Vietnamese leprosy families
Title: Linkage disequilibrium pattern and age-at-diagnosis are critical for replicating genetic associations across ethnic groups in leprosy.
Elevated levels of PACRG result in increased neuronal autophagy.
Title: Parkin co-regulated gene is involved in aggresome formation and autophagy in response to proteasomal impairment.
single nucleotide polymorphisms of PARK2 with leprosy susceptibility in Chinese population
Title: Association study of the single nucleotide polymorphisms of PARK2 and PACRG with leprosy susceptibility in Chinese population.
the association of polymorphisms rs9356058 and rs1040079 in gene PARK2/PACRG with leprosy
Title: Leprosy epidemics during history increased protective allele frequency of PARK2/PACRG genes in the population of the Mljet Island, Croatia.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction See all GeneRIFs (23)

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

SHGC-83222 (e-PCR)
- UniSTS:100881

D6S1008 (e-PCR)
- UniSTS:3608

RH121808 (e-PCR)
- UniSTS:134957

SHGC-107229 (e-PCR)
- UniSTS:170303

D6S1175E (e-PCR)
- UniSTS:20304

SHGC-155508 (e-PCR)
- UniSTS:184410

D6S1035 (e-PCR), detects polymorphism
- UniSTS:10850

SHGC-86172 (e-PCR)
- UniSTS:104813

SHGC-106072 (e-PCR)
- UniSTS:169609

RH93900 (e-PCR)
- UniSTS:92812

D6S1071 (e-PCR)
- UniSTS:21168

D6S305 (e-PCR)
- UniSTS:24501

AL008745 (e-PCR)
- UniSTS:94672

G20697 (e-PCR)
- UniSTS:3804

A006C15 (e-PCR)
- UniSTS:3805

SHGC-144483 (e-PCR)
- UniSTS:172264

D6S1899 (e-PCR)
- UniSTS:83433

AL008752 (e-PCR)
- UniSTS:94697

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables Hsp70 protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables Hsp70 protein binding	IDA Inferred from Direct Assay more info	PubMed
enables Hsp90 protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables Hsp90 protein binding	IDA Inferred from Direct Assay more info	PubMed
enables actin binding	IDA Inferred from Direct Assay more info	PubMed
enables alpha-tubulin binding	IDA Inferred from Direct Assay more info	PubMed
enables beta-tubulin binding	IDA Inferred from Direct Assay more info	PubMed
enables heat shock protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-folding chaperone binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to unfolded protein	TAS Traceable Author Statement more info	PubMed
involved_in flagellated sperm motility	IEA Inferred from Electronic Annotation more info
involved_in protein localization	IEA Inferred from Electronic Annotation more info
involved_in spermatid development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in axonemal B tubule inner sheath	IEA Inferred from Electronic Annotation more info
located_in axonemal microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in axonemal microtubule	ISS Inferred from Sequence or Structural Similarity more info
located_in cell body	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in manchette	IEA Inferred from Electronic Annotation more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
located_in neuron projection	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	HDA more info	PubMed
located_in sperm midpiece	IEA Inferred from Electronic Annotation more info
is_active_in vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: parkin coregulated gene protein

Names: PARK2 co-regulated; PARK2 coregulated; molecular chaperone/chaperonin-binding protein; parkin co-regulated gene protein

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_011525.1 RefSeqGene

Range

5843..593369

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001080378.2 → NP_001073847.1 parkin coregulated gene protein isoform 2

See identical proteins and their annotated locations for NP_001073847.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1. Both variants 2 and 3 encode the same isoform.

Source sequence(s)

AL031121, AP001576, BC044227

Consensus CDS

CCDS43524.1

UniProtKB/Swiss-Prot

Q96M98

Related

ENSP00000355855.2, ENST00000366889.6

Conserved Domains (1) summary

pfam10274
Location:70 → 253

ParcG; Parkin co-regulated protein
NM_001080379.2 → NP_001073848.1 parkin coregulated gene protein isoform 2

See identical proteins and their annotated locations for NP_001073848.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an exon at its 5' end and an in-frame internal exon, compared to variant 1. These differences produce a unique 5' UTR and a protein (isoform 2) that is shorter than isoform 1. Both variants 2 and 3 encode the same isoform.

Source sequence(s)

AF546872, AL031121, BC044227

Consensus CDS

CCDS43524.1

UniProtKB/Swiss-Prot

Q96M98

Related

ENSP00000355854.2, ENST00000366888.7

Conserved Domains (1) summary

pfam10274
Location:70 → 253

ParcG; Parkin co-regulated protein
NM_152410.3 → NP_689623.2 parkin coregulated gene protein isoform 1

See identical proteins and their annotated locations for NP_689623.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).

Source sequence(s)

AK057286, AL031121, AL354942, BC044227

Consensus CDS

CCDS5284.1

UniProtKB/Swiss-Prot

E1P5B5, Q6IMB8, Q8IZM1, Q8NHP5, Q96M98, Q9H1V9

Related

ENSP00000337946.3, ENST00000337019.7

Conserved Domains (1) summary

pfam10274
Location:70 → 292

ParcG; Parkin co-regulated protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

162727132..163315500

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017010277.3 → XP_016865766.1 parkin coregulated gene protein isoform X1
XM_017010275.3 → XP_016865764.1 parkin coregulated gene protein isoform X1
XM_017010279.3 → XP_016865768.1 parkin coregulated gene protein isoform X1
XM_017010278.3 → XP_016865767.1 parkin coregulated gene protein isoform X1
XM_047418208.1 → XP_047274164.1 parkin coregulated gene protein isoform X5
XM_011535461.4 → XP_011533763.1 parkin coregulated gene protein isoform X4

Conserved Domains (1) summary

pfam10274
Location:70 → 227

ParcG; Parkin co-regulated protein
XM_011535462.4 → XP_011533764.1 parkin coregulated gene protein isoform X2

Conserved Domains (1) summary

pfam10274
Location:70 → 205

ParcG; Parkin co-regulated protein
XM_011535468.3 → XP_011533770.1 parkin coregulated gene protein isoform X12

Conserved Domains (1) summary

pfam10274
Location:70 → 204

ParcG; Parkin co-regulated protein
XM_006715344.5 → XP_006715407.1 parkin coregulated gene protein isoform X6

Conserved Domains (1) summary

pfam10274
Location:70 → 204

ParcG; Parkin co-regulated protein
XM_006715345.5 → XP_006715408.1 parkin coregulated gene protein isoform X10

Conserved Domains (1) summary

pfam10274
Location:70 → 204

ParcG; Parkin co-regulated protein
XM_011535469.3 → XP_011533771.1 parkin coregulated gene protein isoform X13

Conserved Domains (1) summary

pfam10274
Location:70 → 204

ParcG; Parkin co-regulated protein
XM_005266826.6 → XP_005266883.1 parkin coregulated gene protein isoform X11

Conserved Domains (1) summary

pfam10274
Location:70 → 204

ParcG; Parkin co-regulated protein
XM_005266825.6 → XP_005266882.1 parkin coregulated gene protein isoform X8

Conserved Domains (1) summary

pfam10274
Location:70 → 204

ParcG; Parkin co-regulated protein
XM_017010276.3 → XP_016865765.1 parkin coregulated gene protein isoform X1
XM_017010280.3 → XP_016865769.1 parkin coregulated gene protein isoform X3
XM_011535466.2 → XP_011533768.1 parkin coregulated gene protein isoform X9

Conserved Domains (1) summary

pfam10274
Location:70 → 204

ParcG; Parkin co-regulated protein
XM_011535471.3 → XP_011533773.1 parkin coregulated gene protein isoform X14

Conserved Domains (1) summary

pfam10274
Location:70 → 97

ParcG; Parkin co-regulated protein
XM_017010281.3 → XP_016865770.1 parkin coregulated gene protein isoform X7
XM_017010282.3 → XP_016865771.1 parkin coregulated gene protein isoform X7