PITHD1

Last update 08 May 2025

Basic Info

Synonyms

C1orf128, HT014, PITH domain containing 1

+ [3]

Introduction

Promotes megakaryocyte differentiation by up-regulating RUNX1 expression (PubMed:25134913). Regulates RUNX1 expression by activating the proximal promoter of the RUNX1 gene and by enhancing the translation activity of an internal ribosome entry site (IRES) element in the RUNX1 gene (PubMed:25134913).

100 Clinical Results associated with PITHD1

100 Translational Medicine associated with PITHD1

0 Patents (Medical) associated with PITHD1

Literatures (Medical) associated with PITHD1

01 Feb 2024·Veterinary Research Communications

Effect of feeding corn silage on semen quality and spermatogenesis of bulls

Article

Author: Mei, Chugang ; Zan, Linsen ; Raza, Sayed Haidar Abbas ; Wang, Juze ; Wang, Meng ; Ma, Jing ; Zhang, Dianqi ; Aloufi, Bander Hamad ; He, Jie ; Xie, Kuncheng ; Du, Xinze ; Pant, Sameer D

Bovine reproduction, including male fertility traits like semen quality, are influenced by a variety of different factors like breed, nutrition, environment, and feeding management. Diet in a crucial determinant, and in this regard although corn silage is generally considered to be a favorable roughage for fattening meat type breeds, it tends to have a negative impact on semen quality. In the current study, alfalfa hay was substituted by corn silage as a roughage source in the diet of bulls to investigate its effects on the fertility of breeding bulls. A feeding trail spanning 140 days was conducted, with semen collection occurring twice a week commencing 60 days after the start of trial. Semen quality parameters, serum antioxidant indexes, sex hormone content in semen, rumen microflora, and sperm transcriptome were characterized. Feeding corn silage enhanced host antioxidant capacity, significantly decreased spermatozoal motility and increased sperm deformity rate in bulls. Furthermore, follicle-stimulating hormone (FSH) and luteinizing hormone (LH) content in semen were significantly decreased (P < 0.05), and the inhibin B (INHB) content was significantly increased (P < 0.01). Feeding corn silage led to significant changes in the diversity of rumen microbiota of cattle at the phylum and genus levels, some of which were significantly correlated with semen quality. Subsequent RNA sequencing indicated that DHH and PITHD1, two genes related to sperm and reproductive development, were differentially expressed, and enrichment analysis also identified several pathways and biological functions relevant to sperm development and reproduction. These results indicate that feeding corn silage modulates semen quality via different pathways. Firstly, corn silage metabolites likely affect the secretion of INHB through the testicular capillaries, which affects semen quality by regulating genes involved in spermatogenesis. Secondly, low lignin content in silage corn appears to reduce abundance of rumen flora that are positively correlated with semen quality. Overall, results indicate that feeding bulls corn silage as the primary source of forage could negatively impact semen quality and may not be appropriate as the primary roughage of forage for breeding bulls.

01 Dec 2023·Investigative Opthalmology & Visual Science

Vitreous Humor Proteomic Profile in Patients With Vitreoretinal Lymphoma

Article

Author: Nezu, Naoya ; Hamada, Kazuki ; Yamaguchi, Takefumi ; Usui, Yoshihiko ; Ueda, Koji ; Maruyama, Kazuichi ; Asakage, Masaki ; Yamakawa, Naoyuki ; Komatsu, Hiroyuki ; Wakita, Ryo ; Tsubota, Kinya ; Goto, Hiroshi ; Fujii, Risa

PurposeVitreoretinal lymphoma is a high-grade malignant non-Hodgkin lymphoma with poor prognosis. The objective of this study was to elucidate the proteome profile of the vitreous in patients with vitreoretinal lymphoma (VRL), aiming to advance understanding of the pathophysiology of VRL.MethodsComprehensive proteomic analyses of vitreous humor using liquid chromatography with tandem mass spectrometry were performed for 10 patients with VRL, 10 control patients with idiopathic epiretinal membrane or macular hole, and 10 patients with ocular sarcoidosis. Differentially expressed proteins (DEPs) were identified by comparing VRL with controls and sarcoidosis, and functional pathway analysis was performed. Finally, vitreous concentrations of representative DEPs that were significantly upregulated in proteomics study were measured by ELISA using a separate cohort.ResultsIn total, 1594 proteins were identified in the vitreous humor of VRL, control, and sarcoidosis samples. Also, 282 DEPs were detected in VRL, 249 upregulated and 33 downregulated, compared with controls. Enrichment pathway analysis showed alterations in proteasome-related pathways. Compared to controls and sarcoidosis, 14 DEPs in VRL showed significant upregulation. In the validation study, ELISA confirmed significantly higher vitreous concentrations of PSAT1, YWHAG, and 20S/26S proteasome complex in VRL compared with controls and sarcoidosis. Among the upregulated DEPs, vitreous PITHD1 and NCSTN concentrations correlated positively with vitreous IL-10 concentrations.ConclusionsThis study highlights aberrations in protein expression pattern in the vitreous of patients with VRL. The DEPs identified in this study may play pivotal roles in VRL pathogenesis, providing insights to enhance understanding of VRL pathophysiology and contribute to the development of VRL biomarkers.

04 Dec 2020·Journal of Proteome ResearchQ2 · BIOLOGY

Smelling the Dark Proteome: Functional Characterization of PITH Domain-Containing Protein 1 (C1orf128) in Olfactory Metabolism

Q2 · BIOLOGY

Article

Author: Ferrer, Isidre ; Robledo, Patricia ; de la Torre, Rafael ; Fernández-Irigoyen, Joaquín ; Santamaría, Enrique ; Lachén-Montes, Mercedes ; Pérez-Mediavilla, Alberto ; Kondo, Hiroyuki ; Iloro, Ibon ; Azkargorta, Mikel ; Ohigashi, Izumi ; Mendizuri, Naroa ; Elortza, Felix ; Ausín, Karina

The Human Proteome Project (HPP) consortium aims to functionally characterize the dark proteome. On the basis of the relevance of olfaction in early neurodegeneration, we have analyzed the dark proteome using data mining in public resources and omics data sets derived from the human olfactory system. Multiple dark proteins localize at synaptic terminals and may be involved in amyloidopathies such as Alzheimer's disease (AD). We have characterized the dark PITH domain-containing protein 1 (PITHD1) in olfactory metabolism using bioinformatics, proteomics, in vitro and in vivo studies, and neuropathology. PITHD1^-/- mice exhibit olfactory bulb (OB) proteome changes related to synaptic transmission, cognition, and memory. OB PITHD1 expression increases with age in wild-type (WT) mice and decreases in Tg2576 AD mice at late stages. The analysis across 6 neurological disorders reveals that olfactory tract (OT) PITHD1 is specifically upregulated in human AD. Stimulation of olfactory neuroepithelial (ON) cells with PITHD1 alters the ON phosphoproteome, modifies the proliferation rate, and induces a pro-inflammatory phenotype. This workflow applied by the Spanish C-HPP and Human Brain Proteome Project (HBPP) teams across the ON-OB-OT axis can be adapted as a guidance to decipher functional features of dark proteins. Data are available via ProteomeXchange with identifiers PXD018784 and PXD021634.

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PITHD1

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