PFDN5 prefoldin subunit 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PFDN5provided by HGNC
Official Full Name: prefoldin subunit 5provided by HGNC
Primary source: HGNC:HGNC:8869
See related: Ensembl:ENSG00000123349 MIM:604899; AllianceGenome:HGNC:8869
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: MM1; MM-1; PFD5
Summary: This gene encodes a member of the prefoldin alpha subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. The encoded protein may also repress the transcriptional activity of the proto-oncogene c-Myc. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in ovary (RPKM 223.5), thyroid (RPKM 192.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.13

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (53295542..53299450)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (53261253..53265162)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (53689326..53693234)

Chromosome 12 - NC_000012.12 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 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?

PFDN5 plays a dual role in breast cancer and regulates tumor immune microenvironment: Insights from integrated bioinformatics analysis and experimental validation.
Title: PFDN5 plays a dual role in breast cancer and regulates tumor immune microenvironment: Insights from integrated bioinformatics analysis and experimental validation.
Lysine demethylase 5C inhibits transcription of prefoldin subunit 5 to activate c-Myc signal transduction and colorectal cancer progression.
Title: Lysine demethylase 5C inhibits transcription of prefoldin subunit 5 to activate c-Myc signal transduction and colorectal cancer progression.
Physical interaction of p73 with c-Myc and MM1, a c-Myc-binding protein, and modulation of the p73 function.
Title: Physical interaction of p73 with c-Myc and MM1, a c-Myc-binding protein, and modulation of the p73 function.
Results from a study on gene expression variability markers in early-stage human embryos shows that PFDN5 is a putative expression variability marker for the 3-day, 8-cell embryo stage.
Title: Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.
knockdown of PFD2 and PFD5 disrupted prefoldin formation in HTT-expressing cells, resulting in accumulation of aggregates of a pathogenic form of HTT and in induction of cell death.
Title: Prefoldin protects neuronal cells from polyglutamine toxicity by preventing aggregation formation.
Rabring7 stimulates c-Myc degradation via mono-ubiquitination of MM-1
Title: Rabring7 degrades c-Myc through complex formation with MM-1.
MM-1, a c-Myc interacting protein, interacts with HCV ARFP/F protein, which can result in the enhancement of the c-Myc activity.
Title: Hepatitis C virus ARFP/F protein interacts with cellular MM-1 protein and enhances the gene trans-activation activity of c-Myc.
Wnt4 gene, a member of the Wnt-beta-catenin pathway, was identified as a target gene of MM-1.
Title: Negative regulation of the Wnt signal by MM-1 through inhibiting expression of the wnt4 gene.
MM-1alpha, MM-1gamma, and MM-1gamma, but not MM-1beta, were found to repress transcription activity of c-Myc
Title: Distinct localizations and repression activities of MM-1 isoforms toward c-Myc.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH79802 (e-PCR)
- UniSTS:88688

SHGC-31943 (e-PCR)
- UniSTS:73358

D16S325 (e-PCR)
- UniSTS:147089

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables amyloid-beta binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription corepressor activity	TAS Traceable Author Statement more info	PubMed
enables unfolded protein binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA polymerase I assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in RNA polymerase II core complex assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in RNA polymerase III assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in chaperone-mediated protein folding	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of amyloid fibril formation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein folding	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	TAS Traceable Author Statement more info	PubMed
involved_in retina development in camera-type eye	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in intermediate filament cytoskeleton	IDA Inferred from Direct Assay more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
part_of prefoldin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of prefoldin complex	IDA Inferred from Direct Assay more info	PubMed
part_of prefoldin complex	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: prefoldin subunit 5

Names: c-myc binding protein; myc modulator-1

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_029695.1 RefSeqGene

Range

5092..9000

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002624.4 → NP_002615.2 prefoldin subunit 5 isoform alpha

See identical proteins and their annotated locations for NP_002615.2

Status: REVIEWED

Description

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

Source sequence(s)

AB055803, AB055805

Consensus CDS

CCDS8853.1

UniProtKB/Swiss-Prot

A8K9A8, Q54AA8, Q99471, Q9C083, Q9C084

UniProtKB/TrEMBL

H3BPF6

Related

ENSP00000334188.4, ENST00000334478.9

Conserved Domains (1) summary

TIGR00293
Location:12 → 138

TIGR00293; prefoldin, archaeal alpha subunit/eukaryotic subunit 5
NM_145897.3 → NP_665904.1 prefoldin subunit 5 isoform gamma

See identical proteins and their annotated locations for NP_665904.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two exons in the coding region but maintains the reading frame, compared to variant 1. The encoded protein (isoform gamma) is shorter than isoform alpha.

Source sequence(s)

AB055805

Consensus CDS

CCDS8854.1

UniProtKB/Swiss-Prot

Q99471

Related

ENSP00000266964.4, ENST00000351500.7

Conserved Domains (1) summary

cl09111
Location:24 → 93

Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...

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_000012.12 Reference GRCh38.p14 Primary Assembly

Range

53295542..53299450

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

NW_025791795.1 Reference GRCh38.p14 PATCHES

Range

19302..23210

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

53261253..53265162

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_145896.2: Suppressed sequence

Description

NM_145896.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.