PIH1D1 PIH1 domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PIH1D1provided by HGNC
Official Full Name: PIH1 domain containing 1provided by HGNC
Primary source: HGNC:HGNC:26075
See related: Ensembl:ENSG00000104872 MIM:611480; AllianceGenome:HGNC:26075
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: Pih1; MOT48; NOP17; DNAAF14
Summary: Enables several functions, including RNA polymerase I core promoter sequence-specific DNA binding activity; enzyme binding activity; and phosphoprotein binding activity. Involved in several processes, including box C/D snoRNP assembly; positive regulation of signal transduction; and regulation of cellular protein metabolic process. Located in cytoplasm and nucleolus. Part of R2TP complex and pre-snoRNP complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in placenta (RPKM 13.7), lymph node (RPKM 13.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.33

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (49446298..49451814, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (52443763..52449272, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (49949555..49955071, complement)

Chromosome 19 - NC_000019.10 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: 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?

An RPAP3:PIH1D1 sub-complex is found demonstrating the need for a 34-residue insertion, specific of RPAP3 isoform 1, for the tight binding of PIH1D1.
Title: Deep Structural Analysis of RPAP3 and PIH1D1, Two Components of the HSP90 Co-chaperone R2TP Complex.
We propose that protein complexes assembled by the R2TP complex are defined by phosphorylation of a specific motif and recognition by the PIH1D1 subunit
Title: Phosphorylation-dependent PIH1D1 interactions define substrate specificity of the R2TP cochaperone complex.
PIH1D1 interacts with mTOR complex 1 and enhances ribosome RNA transcription.
Title: PIH1D1 interacts with mTOR complex 1 and enhances ribosome RNA transcription.
Human PIH1 domain-containing protein 1 (PIH1) interacts directly with histone H4 and recruits the Brg1-SWI/SNF complex via SNF5 to human rRNA genes.
Title: Human PIH1 associates with histone H4 to mediate the glucose-dependent enhancement of pre-rRNA synthesis.
this study investigated the interaction between RPAP3 and PIH1D1.
Title: RPAP3 splicing variant isoform 1 interacts with PIH1D1 to compose R2TP complex for cell survival.
PIH1D1 may stabilize SNF5 by attenuating its proteasome degradation pathway.
Title: [Effect of PIH1D1 on the degradation of its binding protein SNF5].
These results suggest that PIH1D1 may also function as a novel modulator of apoptosis pathway.
Title: PIH1D1, a subunit of R2TP complex, inhibits doxorubicin-induced apoptosis.
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.

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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

A002I45 (e-PCR)
- UniSTS:37657

RH16140 (e-PCR)
- UniSTS:52821

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase binding	IPI Inferred from Physical Interaction more info	PubMed
NOT enables RNA polymerase I cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables histone binding	IPI Inferred from Physical Interaction more info	PubMed
enables histone reader activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables phosphoprotein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in TORC1 complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in box C/D snoRNP assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in box C/D snoRNP assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromatin remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epithelial cell differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of TORC1 signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of glucose mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein serine/threonine kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein stabilization	NAS Non-traceable Author Statement more info	PubMed
involved_in rRNA processing	IBA Inferred from Biological aspect of Ancestor more info
NOT involved_in regulation of TORC2 signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in snoRNA localization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of R2TP complex	IBA Inferred from Biological aspect of Ancestor more info
part_of R2TP complex	IDA Inferred from Direct Assay more info	PubMed
part_of R2TP complex	IPI Inferred from Physical Interaction more info	PubMed
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
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of pre-snoRNP complex	IDA Inferred from Direct Assay more info	PubMed
part_of ribonucleoprotein complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: PIH1 domain-containing protein 1

Names: dynein axonemal assembly factor 14; nucleolar protein 17 homolog

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_017916.3 → NP_060386.1 PIH1 domain-containing protein 1

See identical proteins and their annotated locations for NP_060386.1

Status: VALIDATED

Source sequence(s)

AA018444, AK000650, DC385084

Consensus CDS

CCDS12765.1

UniProtKB/Swiss-Prot

B4DGN7, B4E2X7, Q9BVL0, Q9NWS0

UniProtKB/TrEMBL

M0QYA2

Related

ENSP00000262265.4, ENST00000262265.10

Conserved Domains (1) summary

cl00175
Location:30 → 284

alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

49446298..49451814 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024451570.2 → XP_024307338.1 PIH1 domain-containing protein 1 isoform X3

Conserved Domains (1) summary

cl00175
Location:6 → 157

alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.
XM_047439024.1 → XP_047294980.1 PIH1 domain-containing protein 1 isoform X1
XM_047439025.1 → XP_047294981.1 PIH1 domain-containing protein 1 isoform X2

Related

ENSP00000520492.1, ENST00000715674.1