PFDN6 prefoldin subunit 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PFDN6provided by HGNC
Official Full Name: prefoldin subunit 6provided by HGNC
Primary source: HGNC:HGNC:4926
See related: Ensembl:ENSG00000204220 MIM:605660; AllianceGenome:HGNC:4926
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: HKE2; KE-2; PFD6; H2-KE2
Summary: PFDN6 is a subunit of the heteromeric prefoldin complex that chaperones nascent actin (see MIM 102560) and alpha- and beta-tubulin (see MIM 602529 and MIM 191130, respectively) chains pending their transfer to the cytosolic chaperonin containing TCP1 (MIM 186980) (CCT) complex (Hansen et al., 1999 [PubMed 10209023]).[supplied by OMIM, Jul 2010]
Expression: Ubiquitous expression in testis (RPKM 26.0), kidney (RPKM 25.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.32

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (33289197..33290934)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (33110554..33112296)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (33257374..33258711)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
Is part of an RNA polymerase II-associated complex with possible chaperone activity.
Title: High-resolution mapping of the protein interaction network for the human transcription machinery and affinity purification of RNA polymerase II-associated complexes.
The localization of the HKE2 gene to the class II region, its cytoplasmic expression and putative protein-binding domain suggest that HKE2 may function in adaptive immunity and cancer.
Title: Characterization of HKE2: an ancient antigen encoded in the major histocompatibility complex.

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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	FITC-labeled Tat 47-59 peptide upregulates gene expression of prefoldin subunit 6 (PFDN6) in U-937 macrophages	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

MARC_1913-1914:991931657:2 (e-PCR)
- UniSTS:230887

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 protein-folding chaperone binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein-folding chaperone binding	IDA Inferred from Direct Assay more info	PubMed
enables unfolded protein binding	IDA Inferred from Direct Assay more info	PubMed
enables unfolded protein binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in chaperone-mediated protein complex assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in chaperone-mediated protein complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in chaperone-mediated protein folding	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of amyloid fibril formation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein folding	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein folding	IDA Inferred from Direct Assay more info	PubMed
involved_in protein folding	NAS Non-traceable Author Statement more info	PubMed
involved_in protein stabilization	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of RPAP3/R2TP/prefoldin-like complex	IPI Inferred from Physical Interaction more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor 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
part_of protein folding chaperone complex	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: prefoldin subunit 6

Names: HLA class II region expressed gene KE2; KE2 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.

mRNA and Protein(s)

NM_001185181.3 → NP_001172110.1 prefoldin subunit 6

See identical proteins and their annotated locations for NP_001172110.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript. All variants encode the same protein.

Source sequence(s)

AL662820, BE794658, BM686351, CB124036

Consensus CDS

CCDS4773.1

UniProtKB/Swiss-Prot

O15212

UniProtKB/TrEMBL

Q5STK2

Related

ENSP00000363734.5, ENST00000374606.10

Conserved Domains (1) summary

cd00632
Location:9 → 113

Prefoldin_beta; Prefoldin beta; Prefoldin is a hexameric molecular chaperone complex, composed of two evolutionarily related subunits (alpha and beta), which are found in both eukaryotes and archaea. Prefoldin binds and stabilizes newly synthesized polypeptides ...
NM_001265595.2 → NP_001252524.1 prefoldin subunit 6

See identical proteins and their annotated locations for NP_001252524.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. All variants encode the same protein.

Source sequence(s)

BE794658, BM818422

Consensus CDS

CCDS4773.1

UniProtKB/Swiss-Prot

O15212

UniProtKB/TrEMBL

Q5STK2

Related

ENSP00000363738.2, ENST00000374610.6

Conserved Domains (1) summary

cd00632
Location:9 → 113

Prefoldin_beta; Prefoldin beta; Prefoldin is a hexameric molecular chaperone complex, composed of two evolutionarily related subunits (alpha and beta), which are found in both eukaryotes and archaea. Prefoldin binds and stabilizes newly synthesized polypeptides ...
NM_001265596.1 → NP_001252525.1 prefoldin subunit 6

See identical proteins and their annotated locations for NP_001252525.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. All variants encode the same protein.

Source sequence(s)

BE794658, BM745352, DA256816

Consensus CDS

CCDS4773.1

UniProtKB/Swiss-Prot

O15212

UniProtKB/TrEMBL

Q5STK2

Related

ENSP00000378563.1, ENST00000395131.5

Conserved Domains (1) summary

cd00632
Location:9 → 113

Prefoldin_beta; Prefoldin beta; Prefoldin is a hexameric molecular chaperone complex, composed of two evolutionarily related subunits (alpha and beta), which are found in both eukaryotes and archaea. Prefoldin binds and stabilizes newly synthesized polypeptides ...
NM_014260.4 → NP_055075.1 prefoldin subunit 6

See identical proteins and their annotated locations for NP_055075.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. All variants encode the same protein.

Source sequence(s)

BE794658, BM745352, BM792413

Consensus CDS

CCDS4773.1

UniProtKB/Swiss-Prot

O15212

UniProtKB/TrEMBL

Q5STK2

Related

ENSP00000363735.1, ENST00000374607.5

Conserved Domains (1) summary

cd00632
Location:9 → 113

Prefoldin_beta; Prefoldin beta; Prefoldin is a hexameric molecular chaperone complex, composed of two evolutionarily related subunits (alpha and beta), which are found in both eukaryotes and archaea. Prefoldin binds and stabilizes newly synthesized polypeptides ...