PIH1D1 - PIH1 domain containing 1 Gene

Homo sapiens

Also known as Pih1; MOT48; NOP17; DNAAF14

Gene ID: 55011 | Gene type: protein coding

About PIH1D1

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:49,446,298-49,451,814 (from NCBI)

This gene has 24 transcripts (splice variants), 175 orthologues and 2 paralogues. Ubiquitous expression in placenta (RPKM 13.7), lymph node (RPKM 13.6) and 25 other tissues.

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]

PIH1D1 Products(1)

mRNA	Protein	Name
NM_017916.3	NP_060386.1	PIH1 domain-containing protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATPase binding	IPI IPI: Inferred from physical interaction	17636026	GOA
NOT enables RNA polymerase I cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	22368283	GOA
enables histone binding	IPI IPI: Inferred from physical interaction	22368283	GOA
enables histone reader activity	IMP IMP: Inferred from mutant phenotype	22368283	GOA
enables phosphoprotein binding	IPI IPI: Inferred from physical interaction	20864032	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	24036451	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in TORC1 complex assembly	IDA IDA: Inferred from direct assay	24036451	GOA
involved in box C/D snoRNP assembly	IMP IMP: Inferred from mutant phenotype	17636026	GOA
involved in chromatin remodeling	IMP IMP: Inferred from mutant phenotype	22368283	GOA
involved in epithelial cell differentiation	IEP IEP: Inferred from expression pattern	21492153	GOA
involved in negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway	IMP IMP: Inferred from mutant phenotype	21078300	GOA
involved in positive regulation of TORC1 signaling	IMP IMP: Inferred from mutant phenotype	24036451	GOA
involved in positive regulation of glucose mediated signaling pathway	IMP IMP: Inferred from mutant phenotype	22368283	GOA
involved in positive regulation of protein serine/threonine kinase activity	IMP IMP: Inferred from mutant phenotype	24036451	GOA
involved in positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	IGI IGI: Inferred from genetic interaction	22368283	GOA
involved in positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	IMP IMP: Inferred from mutant phenotype	22368283	GOA
NOT involved in regulation of TORC2 signaling	IMP IMP: Inferred from mutant phenotype	24036451	GOA
involved in snoRNA localization	IMP IMP: Inferred from mutant phenotype	17636026	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of R2TP complex	IDA IDA: Inferred from direct assay	21078300	GOA
part of R2TP complex	IPI IPI: Inferred from physical interaction	29662061	GOA
part of RPAP3/R2TP/prefoldin-like complex	IPI IPI: Inferred from physical interaction	31738558	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	22368283	GOA
located in nucleolus	IDA IDA: Inferred from direct assay	22368283	GOA
located in nucleus	IDA IDA: Inferred from direct assay	22368283	GOA
part of pre-snoRNP complex	IDA IDA: Inferred from direct assay	17636026	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PIH1D1 Protein Structure

PIH1

0
100
200
290 a.a.

Protein Preferred Names

Protein Names

PIH1 domain-containing protein 1

dynein axonemal assembly factor 14

PIH1D1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PIH1D1	Q9NWS0	TELO2	Homo sapiens	Q9Y4R8	Anti Tag CoIP	24656813
Intra	PIH1D1	Q9NWS0	TELO2	Homo sapiens	Q9Y4R8	X-Ray Diffraction	24656813
Intra	PIH1D1	Q9NWS0	TELO2	Homo sapiens	Q9Y4R8	ITC	24656813
Intra	PIH1D1	Q9NWS0	RCOR3	Homo sapiens	Q9P2K3-2	Validated Y2H	32296183
Cross	PIH1D1	Q9NWS0	Ruvbl1	Mus musculus	P60122	Pull Down	17636026
Intra	PIH1D1	Q9NWS0	ECD	Homo sapiens	O95905	ITC	24656813
Intra	PIH1D1	Q9NWS0	ECD	Homo sapiens	O95905	Anti Bait CoIP	26711270
Intra	PIH1D1	Q9NWS0	RPAP2	Homo sapiens	Q8IXW5	Anti Tag CoIP	33961781
Intra	PIH1D1	Q9NWS0	RPAP2	Homo sapiens	Q8IXW5	Anti Tag CoIP	24656813
Intra	PIH1D1	Q9NWS0	FARP1	Homo sapiens	Q9Y4F1	Validated Y2H	32296183
Intra	PIH1D1	Q9NWS0	TSC22D4	Homo sapiens	Q9Y3Q8	Y2H Pooling	16189514
Intra	PIH1D1	Q9NWS0	RBPMS	Homo sapiens	Q93062	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Ciliary Dyskinesia, Primary, 38

CILD38	Ciliary Dyskinesia, Primary, 38, With Or Without Situs Inversus
Primary Ciliary Dyskinesia 38	Primary Ciliary Dyskinesia 38 With Or Without Situs Inversus

Ciliary Dyskinesia, Primary, 28

Primary Ciliary Dyskinesia 28	CILD28
Primary Ciliary Dyskinesia 28 With Or Without Situs Inversus	Ciliary Dyskinesia, Primary, 28, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 28, Without Situs Inversus	Dyskinesia, Ciliary, Primary, 28

Coffin-Siris Syndrome 3

CSS3	Mrd15
Mental Retardation, Autosomal Dominant 15	Autosomal Dominant Mental Retardation 15
Coffin-Siris Syndrome, Type 3

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome	Kartagener Syndrome
Dextrocardia Bronchiectasis And Sinusitis	Pcd
Ciliary Motility Disorders	Ciliary Motility Disorder
Immotile Ciliary Syndrome	Ciliary Dyskinesia Primary
Ics	Polynesian Bronchiectasis
Dextrocardia-Bronchiectasis-Sinusitis Syndrome	Immotile Cilia Syndrome, Kartagener Type
Primary Ciliary Dyskinesia And Situs Inversus	Primary Ciliary Dyskinesia, Kartagener Type
Siewert Syndrome	Dyskinesia, Ciliary, Primary

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10509	PIH1D1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PIH1D1	VGNC	VGNC:75868
Mus musculus	PIH1D1	MGD	MGI:1916095
Bos taurus	PIH1D1	VGNC	VGNC:32883
Felis catus	PIH1D1	VGNC	VGNC:64173
Canis familiaris	PIH1D1	VGNC	VGNC:44547
Rattus norvegicus	PIH1D1	RGD	RGD:1309809

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