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

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

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		/	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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