POC1B-GALNT4 (POC1B-GALNT4 readthrough)

Gene Basic Information

Gene Basic Information

symbol:
POC1B-GALNT4
locus group:
other
location:
12q21.33
gene_family:
alias symbol:
None
alias name:
None
entrez id:
100528030
ensembl gene id:
ENSG00000259075
ucsc gene id:
uc001tbe.4
refseq accession:
NM_001199781
hgnc_id:
HGNC:42957
approved reserved:
2011-09-28

Chromosome Location

Chromosome Location

12q21.33

Gene Summary

Gene Summary

POC1B-GALNT4是一个融合基因，由POC1B（Proteasome Maturation Protein）和GALNT4（Polypeptide N-Acetylgalactosaminyltransferase 4）两个基因的部分序列组成。POC1B基因编码的蛋白是中心体和纤毛组装的关键调控因子，参与细胞周期调控和微管组织。GALNT4基因编码的蛋白属于多肽N-乙酰半乳糖胺转移酶家族（GALNT家族），负责在蛋白质的丝氨酸或苏氨酸残基上添加N-乙酰半乳糖胺（GalNAc），这是O-糖基化的第一步。GALNT家族共有20个成员，它们共同参与蛋白质翻译后修饰，影响蛋白质的稳定性、定位和功能，尤其在粘蛋白型O-糖基化中起核心作用。POC1B-GALNT4融合基因可能导致两种蛋白功能的异常结合，可能影响细胞周期和糖基化过程。POC1B的突变或表达异常与纤毛病如视网膜色素变性有关，而GALNT4的异常表达可能影响粘蛋白的糖基化，与某些癌症如胃癌和结肠癌的发展相关。如果POC1B-GALNT4过表达，可能导致细胞周期紊乱或异常的糖基化模式，进而影响细胞增殖和分化；降低表达则可能损害纤毛功能或糖基化过程，影响细胞信号传导和组织稳态。该融合基因的具体功能尚需进一步研究，但其组成基因的独立功能提示它可能在发育和疾病中扮演重要角色。

ChineseEnglish

This locus represents naturally occurring transcripts that splice the 5' exons of the POC1B (POC1 centriolar protein homolog B) gene on chromosome 12 to the GALNT4 (UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4) gene, which is located within a POC1B intron. Alternative splicing results in two transcript variants, one of which encodes a fusion isoform that shares sequence identity with the products of each individual gene. [provided by RefSeq, Dec 2010]

OMIM entry for POC1B-GALNT4     Wikipedia entry for POC1B-GALNT4

Gene Sequence

Gene Sequence

Nucleotide sequence of POC1B-GALNT4:[NCBI]
Loading Gene Browser...

Gene Variants

Gene Variants

SNP variants of POC1B-GALNT4:           Showing partial SNPs
rs1054807       rs2230281       rs2230282       rs2230283       rs3168593       rs3759319       rs3864928       rs4589356       rs7133847       rs7299750       rs7306772       rs10745507       rs10777184       rs10858892       rs10858893       rs10858894       rs10858895      

Gene Expression

Gene Expression

Tissue expression of POC1B-GALNT4:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
TGGAGCGTTATTTCAAAGGC
59
CTGTCCCTTTCCAAGTTGC
59
GATCACCTCCTTGGACCTC
59
GTCTGAGAGCCTTCTTGAC
58
GATCACCTCCTTGGACCTC
59
TCTGAGAGCCTTCTTGACC
59
TGGAGCGTTATTTCAAAGGC
59
TGTCCCTTTCCAAGTTGCT
60
GATCACCTCCTTGGACCTC
59
CTGAGAGCCTTCTTGACCC
60
GAGCGTTATTTCAAAGGCCA
59
CTGTCCCTTTCCAAGTTGC
59

Transcription Factors

Transcription Factors

      No data available

Gene Ontology

Subcellular localization of POC1B-GALNT4 (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for POC1B-GALNT4:

GO ID
Protein
Source DB
GO:0000139
F8VUJ3 (UniProtKB)
IEA
GO:0006486
F8VUJ3 (UniProtKB)
IEA
GO:0016021
F8VUJ3 (UniProtKB)
IEA
GO:0016757
F8VUJ3 (UniProtKB)
IEA
GO:0030246
F8VUJ3 (UniProtKB)
IEA

Related microRNA

Related microRNA

microRNAs potentially regulating POC1B-GALNT4:     

Gene Interactions

Gene Interactions

IntAct
mentha
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Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source

Related Publications

Related Publications

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Johansson Åsa, Eriksson Niclas, Lindholm Daniel, Varenhorst Christoph, James Stefan, Syvänen Ann-Christine, Axelsson Tomas, Siegbahn Agneta, Barratt Bryan J, Becker Richard C, Himmelmann Anders, Katus Hugo A, Steg Philippe Gabriel, Storey Robert F, Wallentin Lars, Hum Mol Genet IF: 3.1 0000-00-00

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