PAIP1 (poly(A) binding protein interacting protein 1) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: PAIP1 (poly(A) binding protein interacting protein 1) Homo sapiens
Analyze
Symbol: PAIP1
Name: poly(A) binding protein interacting protein 1
RGD ID: 1313834
HGNC Page HGNC:16945
Description: Enables translation activator activity. Involved in CRD-mediated mRNA stabilization; negative regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; and positive regulation of cytoplasmic translation. Acts upstream of with a positive effect on viral translation. Located in mCRD-mediated mRNA stability complex. Is active in cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MGC12360; PABC1-interacting protein 1; PABP-interacting protein 1; PAIP-1; poly(A)-binding protein-interacting protein 1; polyadenylate binding protein-interacting protein 1; polyadenylate-binding protein-interacting protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: PAIP1P1   PAIP1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38543,526,267 - 43,557,411 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl543,526,267 - 43,557,758 (-)EnsemblGRCh38hg38GRCh38
GRCh37543,526,369 - 43,557,513 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36543,562,126 - 43,593,244 (-)NCBINCBI36Build 36hg18NCBI36
Celera543,417,454 - 43,449,931 (-)NCBICelera
Cytogenetic Map5p12NCBI
HuRef543,477,803 - 43,510,165 (-)NCBIHuRef
CHM1_1543,527,580 - 43,558,743 (-)NCBICHM1_1
T2T-CHM13v2.0543,778,980 - 43,811,059 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9548260   PMID:10970864   PMID:11051545   PMID:11172725   PMID:11230166   PMID:11287654   PMID:11997512   PMID:12477932   PMID:14685257   PMID:15252450   PMID:15489334   PMID:16344560  
PMID:18725400   PMID:19460752   PMID:19615732   PMID:19851022   PMID:21145461   PMID:21282530   PMID:21539810   PMID:21726813   PMID:21873635   PMID:22863883   PMID:22939629   PMID:24396066  
PMID:24457600   PMID:25266661   PMID:25544563   PMID:26186194   PMID:26224628   PMID:26344197   PMID:26496610   PMID:26979993   PMID:27342126   PMID:28514442   PMID:28718761   PMID:28977470  
PMID:29258905   PMID:29358694   PMID:29395067   PMID:29791485   PMID:29802200   PMID:30731074   PMID:30797814   PMID:30992367   PMID:31010277   PMID:31932471   PMID:32296183   PMID:32344865  
PMID:32529326   PMID:32687490   PMID:32807901   PMID:32871777   PMID:32994395   PMID:33306668   PMID:33545068   PMID:33876849   PMID:33961781   PMID:34011540   PMID:34672954   PMID:35013218  
PMID:35044719   PMID:35153296   PMID:35271311   PMID:35509820   PMID:35676246   PMID:35831314   PMID:35944360   PMID:36114006   PMID:36215168   PMID:37100772   PMID:37827155   PMID:38341068  


Genomics

Comparative Map Data
PAIP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38543,526,267 - 43,557,411 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl543,526,267 - 43,557,758 (-)EnsemblGRCh38hg38GRCh38
GRCh37543,526,369 - 43,557,513 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36543,562,126 - 43,593,244 (-)NCBINCBI36Build 36hg18NCBI36
Celera543,417,454 - 43,449,931 (-)NCBICelera
Cytogenetic Map5p12NCBI
HuRef543,477,803 - 43,510,165 (-)NCBIHuRef
CHM1_1543,527,580 - 43,558,743 (-)NCBICHM1_1
T2T-CHM13v2.0543,778,980 - 43,811,059 (-)NCBIT2T-CHM13v2.0
Paip1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3913119,564,960 - 119,596,858 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl13119,565,137 - 119,594,754 (+)EnsemblGRCm39 Ensembl
GRCm3813119,428,331 - 119,460,323 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl13119,428,601 - 119,458,218 (+)EnsemblGRCm38mm10GRCm38
MGSCv3713120,217,407 - 120,249,127 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3613120,547,809 - 120,576,242 (+)NCBIMGSCv36mm8
Celera13123,883,557 - 123,913,895 (+)NCBICelera
Cytogenetic Map13D2.3NCBI
cM Map1367.22NCBI
Paip1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8253,255,916 - 53,282,965 (+)NCBIGRCr8
mRatBN7.2251,523,190 - 51,550,241 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl251,522,921 - 51,550,241 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx258,642,073 - 58,669,134 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0256,700,784 - 56,727,845 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0251,634,949 - 51,662,000 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0252,300,921 - 52,328,212 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl252,301,798 - 52,328,205 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0270,662,617 - 70,691,628 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4251,610,582 - 51,637,190 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1251,538,463 - 51,557,556 (+)NCBI
Celera247,179,162 - 47,205,199 (+)NCBICelera
Cytogenetic Map2q15NCBI
Paip1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544618,801,578 - 18,831,963 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544618,801,971 - 18,830,816 (+)NCBIChiLan1.0ChiLan1.0
PAIP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2466,767,973 - 66,799,653 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1564,921,599 - 64,954,083 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0566,815,814 - 66,848,051 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1571,866,623 - 71,898,324 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl571,867,224 - 71,913,384 (+)Ensemblpanpan1.1panPan2
PAIP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1466,460,946 - 66,490,437 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl466,461,257 - 66,528,051 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha466,221,848 - 66,251,623 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0466,953,520 - 66,983,319 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl466,954,175 - 66,983,336 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1466,711,651 - 66,741,420 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0466,842,471 - 66,872,080 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0467,377,845 - 67,407,634 (+)NCBIUU_Cfam_GSD_1.0
Paip1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213209,767,829 - 209,796,873 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648018,704,753 - 18,733,368 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648018,704,407 - 18,733,368 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PAIP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1628,098,581 - 28,133,788 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11628,098,580 - 28,134,296 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21629,585,578 - 29,658,741 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PAIP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1442,302,814 - 42,334,174 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl442,302,390 - 42,333,536 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607132,775,842 - 32,807,407 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Paip1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475911,646,848 - 11,686,871 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475911,646,632 - 11,687,981 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PAIP1
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5p14.1-q11.1(chr5:26593632-50288555)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|See cases [RCV000051834] Chr5:26593632..50288555 [GRCh38]
Chr5:26593741..49584389 [GRCh37]
Chr5:26629498..49620146 [NCBI36]
Chr5:5p14.1-q11.1		 pathogenic
GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3 copy number gain See cases [RCV000051835] Chr5:35700480..45260029 [GRCh38]
Chr5:35700582..45260131 [GRCh37]
Chr5:35736339..45295888 [NCBI36]
Chr5:5p13.2-12		 pathogenic
GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3 copy number gain See cases [RCV000051836] Chr5:36374107..51103841 [GRCh38]
Chr5:36374209..50399675 [GRCh37]
Chr5:36409966..50435432 [NCBI36]
Chr5:5p13.2-q11.1		 pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12		 pathogenic
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11		 pathogenic
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 copy number gain See cases [RCV000137302] Chr5:35201559..61903141 [GRCh38]
Chr5:35201661..61198968 [GRCh37]
Chr5:35237418..61234725 [NCBI36]
Chr5:5p13.2-q12.1		 pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3		 pathogenic
GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3 copy number gain See cases [RCV000239779] Chr5:13461664..46098927 [GRCh37]
Chr5:5p15.2-12		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3 copy number gain See cases [RCV000512120] Chr5:24281195..46389339 [GRCh37]
Chr5:5p14.2-11		 likely pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_006451.5(PAIP1):c.1021G>C (p.Asp341His) single nucleotide variant not specified [RCV004326499] Chr5:43535592 [GRCh38]
Chr5:43535694 [GRCh37]
Chr5:5p12		 uncertain significance
GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3 copy number gain not provided [RCV000682542] Chr5:27227243..45685844 [GRCh37]
Chr5:5p14.1-12		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p12(chr5:43556816-43557145)x0 copy number loss not provided [RCV000744680] Chr5:43556816..43557145 [GRCh37]
Chr5:5p12		 benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
NM_006451.5(PAIP1):c.121G>C (p.Ala41Pro) single nucleotide variant not specified [RCV004296550] Chr5:43556726 [GRCh38]
Chr5:43556828 [GRCh37]
Chr5:5p12		 uncertain significance
GRCh37/hg19 5p13.1-q11.1(chr5:38432180-49441945)x3 copy number gain not provided [RCV001005674] Chr5:38432180..49441945 [GRCh37]
Chr5:5p13.1-q11.1		 pathogenic
GRCh37/hg19 5p12(chr5:43383397-43687730)x3 copy number gain not provided [RCV000847714] Chr5:43383397..43687730 [GRCh37]
Chr5:5p12		 uncertain significance
GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3 copy number gain not provided [RCV000848003] Chr5:34453883..46389339 [GRCh37]
Chr5:5p13.2-11		 pathogenic
NM_006451.5(PAIP1):c.740G>A (p.Arg247Gln) single nucleotide variant not specified [RCV004298047] Chr5:43539030 [GRCh38]
Chr5:43539132 [GRCh37]
Chr5:5p12		 uncertain significance
GRCh37/hg19 5p13.2-11(chr5:36053583-46389339)x3 copy number gain musculoskeletal system issues [RCV002284293] Chr5:36053583..46389339 [GRCh37]
Chr5:5p13.2-11		 pathogenic
NM_006451.5(PAIP1):c.193A>G (p.Thr65Ala) single nucleotide variant not specified [RCV004312440] Chr5:43556654 [GRCh38]
Chr5:43556756 [GRCh37]
Chr5:5p12		 likely benign
GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3 copy number gain See cases [RCV001310288] Chr5:29081195..45294031 [GRCh37]
Chr5:5p13.3-12		 pathogenic
GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3 copy number gain not provided [RCV001537930] Chr5:34984696..46405042 [GRCh37]
Chr5:5p13.2-11		 pathogenic
GRCh37/hg19 5p14.1-11(chr5:26382110-46389339) copy number gain not specified [RCV002053485] Chr5:26382110..46389339 [GRCh37]
Chr5:5p14.1-11		 pathogenic
NC_000005.9:g.(?_42688972)_(44388784_?)del deletion not provided [RCV001956361] Chr5:42688972..44388784 [GRCh37]
Chr5:5p12		 pathogenic
GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3 copy number gain not provided [RCV002474514] Chr5:29348753..46389339 [GRCh37]
Chr5:5p13.3-11		 pathogenic
NM_006451.5(PAIP1):c.127C>T (p.His43Tyr) single nucleotide variant not specified [RCV004197212] Chr5:43556720 [GRCh38]
Chr5:43556822 [GRCh37]
Chr5:5p12		 uncertain significance
NM_006451.5(PAIP1):c.58G>A (p.Gly20Ser) single nucleotide variant not specified [RCV004245879] Chr5:43556789 [GRCh38]
Chr5:43556891 [GRCh37]
Chr5:5p12		 uncertain significance
NM_006451.5(PAIP1):c.1145C>T (p.Ala382Val) single nucleotide variant not specified [RCV004115530] Chr5:43534905 [GRCh38]
Chr5:43535007 [GRCh37]
Chr5:5p12		 uncertain significance
NM_006451.5(PAIP1):c.197C>G (p.Pro66Arg) single nucleotide variant not specified [RCV004113316] Chr5:43556650 [GRCh38]
Chr5:43556752 [GRCh37]
Chr5:5p12		 uncertain significance
NM_006451.5(PAIP1):c.415G>A (p.Gly139Ser) single nucleotide variant not specified [RCV004228204] Chr5:43555850 [GRCh38]
Chr5:43555952 [GRCh37]
Chr5:5p12		 uncertain significance
NM_006451.5(PAIP1):c.716G>T (p.Arg239Leu) single nucleotide variant not specified [RCV004170375] Chr5:43543022 [GRCh38]
Chr5:43543124 [GRCh37]
Chr5:5p12		 uncertain significance
NM_006451.5(PAIP1):c.290C>T (p.Pro97Leu) single nucleotide variant not specified [RCV004241646] Chr5:43555975 [GRCh38]
Chr5:43556077 [GRCh37]
Chr5:5p12		 uncertain significance
NM_006451.5(PAIP1):c.910C>G (p.Leu304Val) single nucleotide variant not specified [RCV004127877] Chr5:43536881 [GRCh38]
Chr5:43536983 [GRCh37]
Chr5:5p12		 uncertain significance
NM_006451.5(PAIP1):c.88G>A (p.Gly30Ser) single nucleotide variant not specified [RCV004137161] Chr5:43556759 [GRCh38]
Chr5:43556861 [GRCh37]
Chr5:5p12		 uncertain significance
NM_006451.5(PAIP1):c.137C>T (p.Pro46Leu) single nucleotide variant not specified [RCV004116055] Chr5:43556710 [GRCh38]
Chr5:43556812 [GRCh37]
Chr5:5p12		 uncertain significance
NM_006451.5(PAIP1):c.380A>G (p.Lys127Arg) single nucleotide variant not specified [RCV004166989] Chr5:43555885 [GRCh38]
Chr5:43555987 [GRCh37]
Chr5:5p12		 uncertain significance
NM_006451.5(PAIP1):c.1054G>A (p.Val352Ile) single nucleotide variant not specified [RCV004193656] Chr5:43535559 [GRCh38]
Chr5:43535661 [GRCh37]
Chr5:5p12		 uncertain significance
NM_006451.5(PAIP1):c.1336G>C (p.Ala446Pro) single nucleotide variant not specified [RCV004285276] Chr5:43529796 [GRCh38]
Chr5:43529898 [GRCh37]
Chr5:5p12		 uncertain significance
NM_006451.5(PAIP1):c.134C>T (p.Pro45Leu) single nucleotide variant not specified [RCV004279363] Chr5:43556713 [GRCh38]
Chr5:43556815 [GRCh37]
Chr5:5p12		 uncertain significance
GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3 copy number gain See cases [RCV003482191] Chr5:29299893..45899898 [GRCh38]
Chr5:5p13.3-12		 likely pathogenic
NM_006451.5(PAIP1):c.140A>G (p.Gln47Arg) single nucleotide variant not specified [RCV004499937] Chr5:43556707 [GRCh38]
Chr5:43556809 [GRCh37]
Chr5:5p12		 uncertain significance
NM_006451.5(PAIP1):c.797G>T (p.Arg266Leu) single nucleotide variant not specified [RCV004499938] Chr5:43538973 [GRCh38]
Chr5:43539075 [GRCh37]
Chr5:5p12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1171
Count of miRNA genes:616
Interacting mature miRNAs:674
Transcripts:ENST00000306846, ENST00000338972, ENST00000436644, ENST00000504075, ENST00000504639, ENST00000508537, ENST00000511321, ENST00000514514, ENST00000514816, ENST00000515338
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH67717  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371718,555,713 - 18,555,828UniSTSGRCh37
GRCh37543,526,554 - 43,526,669UniSTSGRCh37
Build 36543,562,311 - 43,562,426RGDNCBI36
Celera543,417,639 - 43,417,754RGD
Cytogenetic Map5p12UniSTS
Cytogenetic Map17p11.2UniSTS
HuRef1718,158,687 - 18,158,802UniSTS
HuRef543,477,988 - 43,478,103UniSTS
G34968  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37543,526,554 - 43,526,669UniSTSGRCh37
GRCh371718,555,713 - 18,555,828UniSTSGRCh37
Celera543,417,639 - 43,417,754UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map17p11.2UniSTS
HuRef543,477,988 - 43,478,103UniSTS
HuRef1718,158,687 - 18,158,802UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 2426 2090 1651 557 1212 398 4324 2068 3443 402 1457 1612 175 1 1204 2776 6 2
Low 13 898 75 67 736 67 33 129 291 17 2 1 12
Below cutoff 3 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_006451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_182789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_183323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC114956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF013758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG430290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG719757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB089732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ786248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ786326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000306846   ⟹   ENSP00000302768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,526,267 - 43,557,077 (-)Ensembl
RefSeq Acc Id: ENST00000338972   ⟹   ENSP00000339622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,527,093 - 43,557,695 (-)Ensembl
RefSeq Acc Id: ENST00000436644   ⟹   ENSP00000387729
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,527,092 - 43,557,093 (-)Ensembl
RefSeq Acc Id: ENST00000504075   ⟹   ENSP00000427410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,543,061 - 43,557,077 (-)Ensembl
RefSeq Acc Id: ENST00000504639   ⟹   ENSP00000422084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,527,145 - 43,557,053 (-)Ensembl
RefSeq Acc Id: ENST00000508537   ⟹   ENSP00000425736
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,538,929 - 43,556,378 (-)Ensembl
RefSeq Acc Id: ENST00000511321   ⟹   ENSP00000425675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,536,854 - 43,557,734 (-)Ensembl
RefSeq Acc Id: ENST00000514514   ⟹   ENSP00000425084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,527,113 - 43,557,077 (-)Ensembl
RefSeq Acc Id: ENST00000514816   ⟹   ENSP00000426089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,527,093 - 43,533,792 (-)Ensembl
RefSeq Acc Id: ENST00000515338   ⟹   ENSP00000425406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,547,728 - 43,557,758 (-)Ensembl
RefSeq Acc Id: NM_006451   ⟹   NP_006442
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38543,526,267 - 43,557,077 (-)NCBI
GRCh37543,526,369 - 43,557,521 (-)ENTREZGENE
Build 36543,562,126 - 43,592,947 (-)NCBI Archive
HuRef543,477,803 - 43,510,165 (-)ENTREZGENE
CHM1_1543,527,580 - 43,558,417 (-)NCBI
T2T-CHM13v2.0543,778,980 - 43,810,725 (-)NCBI
Sequence:
RefSeq Acc Id: NM_182789   ⟹   NP_877590
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38543,526,267 - 43,557,077 (-)NCBI
GRCh37543,526,369 - 43,557,521 (-)ENTREZGENE
Build 36543,562,126 - 43,592,947 (-)NCBI Archive
HuRef543,477,803 - 43,510,165 (-)ENTREZGENE
CHM1_1543,527,580 - 43,558,417 (-)NCBI
T2T-CHM13v2.0543,778,980 - 43,810,725 (-)NCBI
Sequence:
RefSeq Acc Id: NM_183323   ⟹   NP_899152
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38543,526,267 - 43,557,411 (-)NCBI
GRCh37543,526,369 - 43,557,521 (-)ENTREZGENE
Build 36543,562,126 - 43,593,244 (-)NCBI Archive
HuRef543,477,803 - 43,510,165 (-)ENTREZGENE
CHM1_1543,527,580 - 43,558,743 (-)NCBI
T2T-CHM13v2.0543,778,980 - 43,811,059 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_899152   ⟸   NM_183323
- Peptide Label: isoform 3
- UniProtKB: D6REB4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_006442   ⟸   NM_006451
- Peptide Label: isoform 1
- UniProtKB: Q96B61 (UniProtKB/Swiss-Prot),   O60455 (UniProtKB/Swiss-Prot),   A6NKV8 (UniProtKB/Swiss-Prot),   Q9BS63 (UniProtKB/Swiss-Prot),   Q9H074 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_877590   ⟸   NM_182789
- Peptide Label: isoform 2
- UniProtKB: D6REB4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000302768   ⟸   ENST00000306846
RefSeq Acc Id: ENSP00000427410   ⟸   ENST00000504075
RefSeq Acc Id: ENSP00000422084   ⟸   ENST00000504639
RefSeq Acc Id: ENSP00000425736   ⟸   ENST00000508537
RefSeq Acc Id: ENSP00000339622   ⟸   ENST00000338972
RefSeq Acc Id: ENSP00000425675   ⟸   ENST00000511321
RefSeq Acc Id: ENSP00000425084   ⟸   ENST00000514514
RefSeq Acc Id: ENSP00000426089   ⟸   ENST00000514816
RefSeq Acc Id: ENSP00000425406   ⟸   ENST00000515338
RefSeq Acc Id: ENSP00000387729   ⟸   ENST00000436644
Protein Domains
Ataxin-2 C-terminal   MIF4G

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H074-F1-model_v2 AlphaFold Q9H074 1-479 view protein structure

Promoters
RGD ID:6869542
Promoter ID:EPDNEW_H7936
Type:initiation region
Name:PAIP1_1
Description:poly binding protein interacting protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7937  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38543,557,077 - 43,557,137EPDNEW
RGD ID:6869544
Promoter ID:EPDNEW_H7937
Type:initiation region
Name:PAIP1_2
Description:poly binding protein interacting protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7936  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38543,557,695 - 43,557,755EPDNEW
RGD ID:6803419
Promoter ID:HG_KWN:50076
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_182789,   NM_183323,   OTTHUMT00000214024,   UC010IVO.1,   UC010IVP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36543,592,816 - 43,593,382 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16945 AgrOrtholog
COSMIC PAIP1 COSMIC
Ensembl Genes ENSG00000172239 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000306846 ENTREZGENE
  ENST00000306846.8 UniProtKB/Swiss-Prot
  ENST00000338972 ENTREZGENE
  ENST00000338972.8 UniProtKB/Swiss-Prot
  ENST00000436644 ENTREZGENE
  ENST00000436644.6 UniProtKB/Swiss-Prot
  ENST00000504075.1 UniProtKB/TrEMBL
  ENST00000504639.5 UniProtKB/TrEMBL
  ENST00000508537.1 UniProtKB/TrEMBL
  ENST00000511321.5 UniProtKB/TrEMBL
  ENST00000514514.5 UniProtKB/TrEMBL
  ENST00000514816.5 UniProtKB/TrEMBL
  ENST00000515338.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.180 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000172239 GTEx
HGNC ID HGNC:16945 ENTREZGENE
Human Proteome Map PAIP1 Human Proteome Map
InterPro ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ataxin-2_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MIF4G-like_typ-3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10605 UniProtKB/Swiss-Prot
NCBI Gene 10605 ENTREZGENE
OMIM 605184 OMIM
PANTHER EIF4G DOMAIN PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  POLYADENYLATE-BINDING PROTEIN-INTERACTING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MIF4G UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAM2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134941557 PharmGKB
SMART MIF4G UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1D5RMS4_HUMAN UniProtKB/TrEMBL
  A6NKV8 ENTREZGENE
  D6R9H8_HUMAN UniProtKB/TrEMBL
  D6RD97_HUMAN UniProtKB/TrEMBL
  D6REB4 ENTREZGENE, UniProtKB/TrEMBL
  D6RJ02_HUMAN UniProtKB/TrEMBL
  D6RJF2_HUMAN UniProtKB/TrEMBL
  H0YA44_HUMAN UniProtKB/TrEMBL
  O60455 ENTREZGENE
  PAIP1_HUMAN UniProtKB/Swiss-Prot
  Q96B61 ENTREZGENE
  Q9BS63 ENTREZGENE
  Q9H074 ENTREZGENE
UniProt Secondary A6NKV8 UniProtKB/Swiss-Prot
  O60455 UniProtKB/Swiss-Prot
  Q96B61 UniProtKB/Swiss-Prot
  Q9BS63 UniProtKB/Swiss-Prot