HOOK1

Last update 08 May 2025

Basic Info

Synonyms

h-hook1, hHK1, HK1

+ [3]

Introduction

Component of the FTS/Hook/FHIP complex (FHF complex) (PubMed:18799622, PubMed:32073997). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex) (PubMed:18799622). FHF complex promotes the distribution of AP-4 complex to the perinuclear area of the cell (PubMed:32073997). Required for spermatid differentiation. Probably involved in the positioning of the microtubules of the manchette and the flagellum in relation to the membrane skeleton (By similarity).

100 Clinical Results associated with HOOK1

100 Translational Medicine associated with HOOK1

0 Patents (Medical) associated with HOOK1

Literatures (Medical) associated with HOOK1

01 Apr 2025·Journal of Dairy Science

Genomic selection and weighted single-step genome-wide association study of sheep body weight and milk yield: Imputing low-coverage sequencing data with similar genetic background panels

Article

Author: An, X ; Xiao, Y ; Xu, X ; Chen, Z ; Song, Y ; Zhang, L ; Jiang, Y ; Li, D ; Li, R ; Chen, X ; Zhao, X

Low-coverage whole-genome sequencing (LcWGS), a cost-effective genotyping method, offers greater flexibility in variant detection than SNP chips. However, to our knowledge, no studies have explored the application of LcWGS in sheep. This study aimed to evaluate the feasibility of implementing LcWGS and genotype imputation and assess their applicability in genomic studies of body weight and milk yield in sheep. A total of 45,787 birth weight (BiW), 31,135 weaning daily gain (WDG), 8,928 milk yield (MY), and 4,918 milk yield per unit of metabolic body weight (MWMY) data records were analyzed. Among these, 2,366 sheep had imputed high-density genotypes. Simulated sequencing depths from 0.1× to 3× were imputed using reference panels of 100 to 600 individuals. Genotype concordance with true data improved from 0.8875 to 0.9852 as the sequencing depth and panel size increased. The single-step GBLUP method applied to the imputed data yielded higher accuracy for BiW, WDG, MY, and MWMY than the classical pedigree-based BLUP, and notably increased MY accuracy from 0.61 to 0.66. Furthermore, a weighted single-step genome-wide association study identified key genes associated with BiW (ANKS1B, OPRM1, CSMD1), WDG (TKDP5, GRP, RAX, IGFBP7), MY (CCSER1, FGGY, HOOK1), and MWMY (NDUFA10, ZNF385D, NWD1), revealing the importance of multiple pathways in sheep growth and milk production. This is the first study to assess the feasibility of combining LcWGS with genotype imputation for sheep genomic selection, balancing economic costs and imputation efficiency. Furthermore, we demonstrate an effective approach for identifying genetic variants linked to body weight and milk production, offering a cost-effective strategy for dairy sheep breeding.

01 Aug 2024·Modern Pathology

ALK-Rearranged Renal Cell Carcinoma: A Multi-Institutional Study of 9 Cases With Expanding the Morphologic and Molecular Genetic Spectrum

Article

Author: Xu, Jiayun ; Bai, Yanfeng ; Fang, Rong ; Yang, Xiaoqun ; Zhao, Ming ; Gan, Hualei ; Teng, Xiaodong ; Yin, Xiaona ; Wang, Suying ; Duan, Guangjie ; Teng, Lisong ; Chen, Ni ; Wang, Xiaotong ; Zhong, Shan

ALK-rearranged renal cell carcinoma (ALK-RCC) is rare, molecularly defined RCC subtype in the recently published fifth edition of World Health Organization classification of tumors. In this study, we described 9 ALK-RCCs from a clinicopathologic, immunohistochemical, and molecular genetic aspect, supporting and extending upon the observations by previous studies regarding this rare subgroup of RCC. There were 6 male and 3 female patients with ages ranging from 14 to 59 years (mean, 34.4 years). None of the patients had sickle cell trait. The diagnosis was based on radical or partial nephrectomy specimen for 8 patients and on biopsy specimen for 1. Tumor size ranged from 2.5 to 7.2 cm (mean, 2.8 cm). Follow-up was available for 6 of 9 patients (6-36 months); 5 had no tumor recurrence or metastasis and 1 developed lung metastasis at 24 months. The patient was subsequently treated with resection of the metastatic tumor followed by crizotinib-targeted therapy, and he was alive without tumor 12 months later. Histologically, the tumors showed a mixed growth of multiple patterns, including papillary, solid, tubular, tubulocystic, cribriform, and corded, often set in a mucinous background. The neoplastic cells had predominantly eosinophilic cytoplasm. Focally, clear cytoplasm with polarized nuclei and subnuclear vacuoles (n = 1), and pale foamy cytoplasm (n = 1) were observed on the tumor cells. The biopsied tumor showed solid growth of elongated tubules merging with bland spindle cells. Other common and uncommon features included psammomatous microcalcifications (n = 5), rhabdoid cells (n = 4), prominent intracytoplasmic vacuoles (n = 4), prominent chronic inflammatory infiltrate (n = 3), signet ring cell morphology (n = 2), and pleomorphic cells (n = 2). By immunohistochemistry, all 9 tumors were diffusely positive for ALK(5A4) and 4 of 8 tested cases showed reactivity for TFE3 protein. By fluorescence in situ hybridization analysis, ALK rearrangement was identified in all the 9 tumors; none of the tested tumors harbored TFE3 rearrangement (0/4) or gains of chromosomes 7 and 17 (0/3). ALK fusion partners were identified by RNA-sequencing in all 8 cases analyzed, including EML4 (n = 2), STRN (n = 1), TPM3 (n = 1), KIF5B (n = 1), HOOK1 (n = 1), SLIT1 (n = 1), and TPM1(3' UTR) (n = 1). Our study further expands the morphologic and molecular genetic spectrum of ALK-RCC.

01 Jan 2024·eBioMedicine

Analysis of multiple programmed cell death-related prognostic genes and functional validations of necroptosis-associated genes in oesophageal squamous cell carcinoma

Article

Author: Qi, Cuicui ; Wei, Shenshui ; Zhang, Jinfeng ; Ma, Jianqun ; Ling, Xiaodong ; Zhu, Jinhong ; Yang, Yingnan ; Lu, Mengdi ; Zhang, Luquan ; Zhang, Yanqiao ; Cao, Kui

BACKGROUNDOesophageal squamous cell carcinoma (ESCC) is a lethal malignancy. Immune checkpoint inhibitors (ICIs) showed great clinical benefits for patients with ESCC. We aimed to construct a model predicting prognosis and response to ICIs by integrating diverse programmed cell death (PCD) forms.METHODSGenes related to 14 PCDs were collected to generate multi-gene signatures, including apoptosis, necroptosis, pyroptosis, ferroptosis, and cuproptosis. Bulk and single-cell RNA transcriptome datasets were used to develop and validate the model. We assessed the functions of two necroptosis-related genes in ESCC cells by Western blot, co-immunoprecipitation (Co-IP), LDH release assay, CCK-8, and migration assay, followed by immunohistochemistry (IHC) staining on samples of patients with ESCC (n = 67).FINDINGSWe built and validated a 16-gene prognostic combined cell death index (CCDI) by combining immunogenic cell death (ICD) and necroptosis signatures. The CCDI could also predict response to ICIs in cancer, as shown by Tumour Immune Dysfunction and Exclusion (TIDE) analysis, confirmed in four independent ICI clinical trials. Trajectory analysis revealed that HOOK1 and CUL4A might affect ESCC cell fate. We found that HOOK1 induced necroptosis and inhibited the proliferation and migration of ESCC cells, while CUL4A exhibited the opposite effects. Co-IP assay confirmed that HOOK1 and CUL4A promoted and reduced necrosome formation in ESCC cells. Data from patients with ESCC further supported that HOOK1 and CUL4A might be a tumour suppressor and oncogene, respectively.INTERPRETATIONWe constructed a CCDI model with potential in predicting prognosis and response to ICIs in cancer. HOOK1 and CUL4A in the CCDI model are crucial prognostic biomarkers in ESCC.FUNDINGThe Natural Science Foundation of China [82172786], The National Cancer Center Climbing Fund of China [NCC201908B06], The Natural Science Foundation of Heilongjiang Province [LH2021H077].

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HOOK1

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