PIERCE1 - piercer of microtubule wall 1 Gene

Also Known as RbEST47; C9orf116

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 138162

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 References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Cellular Component GO Annotation Evidence References 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

DUF4490: Domain of unknown function (DUF4490) (1 - 106)

  • 0
  • 100
  • 136 a.a.
Protein Preferred Names Protein Names

piercer of microtubule wall 1 protein

  • UPF0691 protein C9orf116

PIERCE1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PIERCE1 Q5BN46 FHL3 Homo sapiens Q13643
Y2H Prey Pooling
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. 상품명
효과
Purity
Rare Diseases
HY-RS10482 PIERCE1 Human Pre-designed siRNA Set A Pre-designed Set / 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
Others PIERCE1 NCBI