PAPPA-AS1 (PAPPA antisense RNA 1)

Gene Basic Information

Gene Basic Information

symbol
PAPPA-AS1
locus group
non-coding RNA
location
9q33.2
gene_family
-
alias symbol
PAPPA-AS|DIPAS|TAF4B|TAF2C2|TAFII105|NCRNA00156
alias name
DIPLA1-antisense expressed|non-pro…
entrez id
493913
ensembl gene id
ENSG00000256040
ucsc gene id
uc033dge.2
refseq accession
XR_041634
hgnc_id
HGNC:35152
approved reserved
2008-09-22

Chromosome Location

Chromosome Location

9q33.2

Gene Summary

Gene Summary

PAPPA-AS1（Pregnancy-Associated Plasma Protein A Antisense RNA 1）是一种长链非编码RNA（lncRNA），位于人类染色体9q33.1区域，与PAPPA基因（妊娠相关血浆蛋白A）的启动子区域重叠，但以反义方向转录。PAPPA-AS1通过调控PAPPA的表达参与多种生物学过程，包括细胞增殖、凋亡和迁移。PAPPA是一种金属蛋白酶，在妊娠期间由胎盘分泌，参与胰岛素样生长因子（IGF）系统的调控，影响胎儿生长和发育。PAPPA-AS1通过表观遗传修饰或竞争性结合miRNA来调节PAPPA的表达水平。研究发现，PAPPA-AS1的突变或异常表达可能影响PAPPA的功能，进而干扰IGF信号通路，导致生长异常或妊娠相关疾病，如子痫前期或胎儿生长受限。PAPPA-AS1的过表达可能促进肿瘤细胞的侵袭和转移，尤其在乳腺癌和卵巢癌中表现显著，而降低其表达则可能抑制肿瘤进展。此外，PAPPA-AS1还与其他基因如IGFBP-4（胰岛素样生长因子结合蛋白4）相互作用，影响细胞外基质的重塑和组织修复。PAPPA-AS1属于lncRNA家族，这类RNA通常不编码蛋白质，但通过调控基因表达、染色质修饰或信号通路参与多种生理和病理过程。PAPPA-AS1的异常表达与心血管疾病、癌症和妊娠并发症等多种疾病相关，可能成为潜在的诊断标志物或治疗靶点。

OMIM entry for PAPPA-AS1     Wikipedia entry for PAPPA-AS1

Gene Sequence

Gene Sequence

Nucleotide sequence of PAPPA-AS1:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MRYGFVRKKH RGLFLTTVAA LPIWNPISEF VKWYKSHKLS
41QHCIRICGHL CQKHLDMFLS VIGQRWPIDV FSSVFDHQVS
81 AIGSDIIWW FLKLFLVSFF FFF
Structure predicted by AlphaFold DB(UniProt: Q5QFB9). Color indicates pLDDT confidence (dark blue = high, yellow/orange = low).

Gene Variants

Gene Variants

SNP variants of PAPPA-AS1:           Showing partial SNPs
rs2565       rs6548       rs8653       rs9366       rs9535       rs1054402       rs1507908       rs3040235       rs3194846       rs3810937       rs3810939       rs3810940       rs6478235       rs10817885       rs11789208       rs16933502       rs41266655      

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
GGATAAGGACTGATTTGAGGG
58
TGATGTGATTTCAGGAGCCA
60
AGGATAAGGACTGATTTGAGGG
59
GATGTGATTTCAGGAGCCA
58
GTGAAGATAGAAAGAGGATAAGGAC
59
AGCCACAGAAGAACCTTACC
60

Gene Ontology

Subcellular localization of PAPPA-AS1 (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 PAPPA-AS1:

GO ID
Protein
Source DB
GO:0003674
Q5QFB9 (UniProtKB)
ND
GO:0005575
Q5QFB9 (UniProtKB)
ND
GO:0005789
Q5QFB9 (UniProtKB)
IEA
GO:0008150
Q5QFB9 (UniProtKB)
ND
GO:0016021
Q5QFB9 (UniProtKB)
IEA

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
Behcet Syndrome 0.002367032 1 1 GAD
Tumor Progression 0.000271442 1 0 BeFree
Adenocarcinoma of colon 0.000271442 1 0 BeFree
Ovarian Failure, Premature 0.000271442 1 0 BeFree

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