KLHDC4 (16q24.2) ,biomerkitsijä syövässä

https://www.ncbi.nlm.nih.gov/gene/54758
Ilmentyy testiksessä ja imusolmukkeessa eniten . Koko: 463 a.a.

1. NM_001184854.2 → NP_001171783.1  kelch domain-containing protein 4 isoform 3
   See identical proteins and their annotated locations for NP_001171783.1
   
   

   ORIGIN      
           1 mgkkgkkekk grgaektaak mekkvskrsr keetflynel yvyntrkdtw tkvdipsppp
          61 rrcahqavvv pqgggqlwvf ggefaspnge qfyhykdlwv lhlatktweq vkstggpsgr
         121 sghrmvawkr qlilfggfhe strdyiyynd vyafnldtft wsklspsgtg ptprsgcqms
         181 vtpqggivvy ggyskqrvkk dvdkgtrhsd mfllkpedgr edkwvwtrmn psgvkptprs
         241 gfsvamapnh qtlffggvcd eeeeeslsge ffndlyfyda trnrwfegql kgpksekkkr
         301 rrgrkeepeg gsrpacggag tqgpvqlvke vvaedgtvvt ikqvltapgs agqprseded
         361 sleeagspap gpcprsnaml avkhgvlyvy ggmfeagdrq vtlsdlhcld lhrmeawkal
         421 vemdpetqew leetdseeds eevegaeggv ddedsgeesg aed

   
   

   Conserved Domains (3) summary

   sd00038
   Location:62 → 117

   Kelch; KELCH repeat [structural motif]

   pfam13415
   Location:129 → 181

   Kelch_3; Galactose oxidase, central domain

   pfam13418
   Location:173 → 229

   Kelch_4; Galactose oxidase, central domain

Related articles in PubMed

1. Upregulation of KLHDC4 Predicts a Poor Prognosis in Human Nasopharyngeal Carcinoma. Lian YF, et al. PLoS One, 2016. PMID 27030985, Free PMC ArticleKelch proteins are implicated in the pathogenesis of many human diseases, including cancer. Nasopharyngeal carcinoma (NPC) is a rare malignancy in most countries, but prevalent in southern China and certain areas of Southeast Asia. In this study, we identified Kelch Domain Containing 4 (KLHDC4), an orphan member of the kelch repeat superfamily, as a prognosis marker for NPC. We examined the expression of KLHDC4 in 168 NPC cases by immunohistochemical staining and found a substantially higher level of KLHDC4 in NPC biopsies compared to adjacent normal nasopharyngeal mucosa. KLHDC4 expression was significantly related to the T classification (P <0 .05="" and="" b="" classification="" expression="" had="" higher="" in="" klhdc4="" metastasis-free="" n="" npc="" overall="" patients="" poorer="" rates.="" staging="" survival="" total="" with=""> Knockout (KO) of KLHDC4 via CRISPR/Cas9-mediated gene editing in NPC cell line dramatically inhibited cell proliferation,

colony formation in soft agar and tumor formation in nude mice. In addition, cell migration and invasion were also impaired by KLHDC4 depletion as revealed by wound healing and Transwell assay. Mechanically, loss of KLHDC4 markedly induced spontaneous apoptosis in NPC cells, as evidenced by increased levels of cleaved caspase-3 and cleaved PARP. Consistently, KLHDC4 knockout cell-derived xenografts also showed elevated cleaved caspase-3 and PARP but reduced Ki-67 staining. In conclusion, our results suggest that KLHDC4 promotes NPC oncogenesis by suppressing cellular apoptosis. Thus, KLHDC4 may serve as a prognosis biomarker and a potential therapeutic target for NPC.

Huntington Disease-Like 2 Anderson DG, et al. , 1993. PMID 20301701

A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. Holmes SE, et al. Nat Genet, 2001 Dec. PMID 11694876

Hereditary Dystonia Overview Klein C, et al. , 1993. PMID 20301334

Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. Tomkins JE, et al. Proteomics, 2018 May. PMID 29513927, Free PMC Article

See all (19) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF? KLHDC4 promotes NPC oncogenesis by suppressing cellular apoptosis.