SOX5P1 (SOX5 pseudogene 1)

Gene Basic Information

Gene Basic Information

symbol:
SOX5P1
locus group:
pseudogene
location:
8q21.3
gene_family:
alias symbol:
SOX29
alias name:
None
entrez id:
6661
ensembl gene id:
ENSG00000254376
ucsc gene id:
None
refseq accession:
NG_002726
hgnc_id:
HGNC:11202
approved reserved:
1997-07-07

Chromosome Location

Chromosome Location

8q21.3

Gene Summary

Gene Summary

SOX5P1（SRY-box transcription factor 5 pseudogene 1）是一个假基因（pseudogene），属于SOX基因家族。假基因是指与功能基因序列相似但通常因突变失去功能的DNA片段。SOX基因家族编码转录因子（调控其他基因表达的蛋白质），其共同特点是含有SRY（性别决定区Y）同源盒（HMG box），这是一个能结合DNA并调控发育相关基因的结构域。SOX5P1是SOX5的假基因版本，SOX5本身参与神经发育、软骨形成和细胞分化等过程。由于假基因通常不表达或产生功能性蛋白，SOX5P1可能通过调控SOX5或其他基因的表达间接发挥作用，例如作为竞争性内源RNA（ceRNA）吸附微小RNA（miRNA）从而影响靶基因表达。目前对SOX5P1的具体功能研究较少，但假基因的突变或表达异常可能与疾病相关，例如某些癌症中假基因的异常表达可干扰正常基因调控网络。SOX5P1若过表达可能通过ceRNA机制影响SOX5或其他基因的表达水平，进而干扰发育或细胞分化过程；而降低表达则可能解除对相关miRNA的抑制，导致靶基因表达异常。SOX基因家族的成员多参与胚胎发育和组织特异性分化，其异常常导致发育缺陷或疾病，如SOX5突变与智力障碍或骨骼异常有关。尽管SOX5P1的功能尚不明确，但假基因的深入研究有助于理解基因调控网络的复杂性和疾病机制。

ChineseEnglish

None

OMIM entry for SOX5P1     Wikipedia entry for SOX5P1

Gene Sequence

Gene Sequence

Nucleotide sequence of SOX5P1:[NCBI]
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Gene Variants

Gene Variants

SNP variants of SOX5P1:           Showing partial SNPs

Gene Expression

Gene Expression

Tissue expression of SOX5P1:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score

Transcription Factors

Transcription Factors

      No data available

Gene Ontology

Subcellular localization of SOX5P1 (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 SOX5P1:

Related microRNA

Related microRNA

microRNAs potentially regulating SOX5P1:     

Gene Interactions

Gene Interactions

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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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