PIERCE1 - piercer of microtubule wall 1 Gene

Homo sapiens

Also known as RbEST47; C9orf116

Gene ID: 138162 | Gene type: protein coding

About PIERCE1

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:135,495,181-135,499,869 (from NCBI)

This gene has 5 transcripts (splice variants), 159 orthologues and 1 paralogue. Biased expression in testis (RPKM 17.0), lung (RPKM 3.3) and 9 other tissues.

Summary

Predicted to act upstream of or within several processes, including cellular response to DNA damage stimulus; cellular response to UV-C; and determination of left/right symmetry. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

PIERCE1 Products(2)

mRNA	Protein	Name
NM_001048265.2	NP_001041730.1	piercer of microtubule wall 1 protein isoform 1
NM_144654.3	NP_653255.1	piercer of microtubule wall 1 protein isoform 2

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in axonemal microtubule	IDA IDA: Inferred from direct assay	36191189	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

PIERCE1 Protein Structure

DUF4490

0
100
136 a.a.

Protein Preferred Names

Protein Names

piercer of microtubule wall 1 protein

UPF0691 protein C9orf116

Related Diseases

Diseases

Alias

Facial Neuralgia

Bardet-Biedl Syndrome 3

BBS3	Bardet-Biedl Syndrome, Type 3

Neurilemmoma Of The Fifth Cranial Nerve

Trigeminal Schwannoma

Trigeminal Neurilemmoma

Trigeminal Nerve Neoplasm

Neoplasm Of Trigeminal Nerve

Tumor Of Trigeminal Nerve

Meckel Syndrome, Type 5

Meckel Syndrome 5	MKS5
Meckel-Gruber Syndrome, Type 5

Tolosa-Hunt Syndrome

Painful Ophthalmoplegia	Tolosa Hunt Syndrome
Nonspecific Inflammation Of The Cavernous Sinus Or Superior Orbital Fissure	Ths
Ophthalmoplegia, Painful

Visceral Heterotaxy

Situs Ambiguus	Heterotaxia
Heterotaxy Syndrome	Heterotaxy
Lateralization Defect	Situs Ambiguous
Left Isomerism	Htx
Ivemark Syndrome	Right Isomerism
Situs Ambiguus Viscerum	Incomplete Situs Inversus
Partial Situs Inversus	Heterotaxy, Visceral
Asplenia Syndrome	Bilateral Left-Sidedness
Polysplenia Syndrome	Moller Syndrome

Situs Inversus

Situs Inversus Viscerum	Laterality Sequence
Complete Transposition	Siv

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-RS10482	PIERCE1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PIERCE1	VGNC	VGNC:104881
Rattus norvegicus	PIERCE1	RGD	RGD:1306233
Felis catus	PIERCE1	VGNC	VGNC:102907
Bos taurus	PIERCE1	VGNC	VGNC:102817
Mus musculus	PIERCE1	MGD	MGI:1916577

Name
Email *

	Sorry, but the email address you supplied was invalid.