PPFIA1 (PTPRF interacting protein alpha 1) - Rat Genome Database

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Gene: PPFIA1 (PTPRF interacting protein alpha 1) Homo sapiens
Analyze
Symbol: PPFIA1
Name: PTPRF interacting protein alpha 1
RGD ID: 1319111
HGNC Page HGNC
Description: Acts upstream of or within negative regulation of protein localization to plasma membrane and negative regulation of stress fiber assembly. Located in cytosol and focal adhesion.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: FLJ41337; FLJ42630; FLJ43474; LAR-interacting protein 1; LIP-1; LIP.1; LIP1; LIPRIN; liprin-alpha-1; Liprin-alpha1; MGC26800; protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-1; PTPRF-interacting protein alpha-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100422713   PPFIA1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1170,270,690 - 70,385,312 (+)EnsemblGRCh38hg38GRCh38
GRCh381170,270,687 - 70,384,405 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371170,116,796 - 70,230,502 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361169,794,471 - 69,908,150 (+)NCBINCBI36hg18NCBI36
Build 341169,794,470 - 69,902,146NCBI
Celera1167,376,164 - 67,491,698 (+)NCBI
Cytogenetic Map11q13.3NCBI
HuRef1166,374,574 - 66,491,659 (+)NCBIHuRef
CHM1_11169,999,952 - 70,114,102 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:7796809   PMID:8524829   PMID:9624153   PMID:10737800   PMID:11931740   PMID:12477932   PMID:12629171   PMID:12923177   PMID:14702039   PMID:15217342   PMID:15324660   PMID:15489334  
PMID:16189514   PMID:16313174   PMID:16713569   PMID:16973615   PMID:17081983   PMID:17363573   PMID:17419996   PMID:17898078   PMID:18196592   PMID:18782753   PMID:19060904   PMID:19156129  
PMID:19690048   PMID:19787783   PMID:20096687   PMID:20467437   PMID:21145461   PMID:21157931   PMID:21516116   PMID:21873635   PMID:22072677   PMID:22266902   PMID:22295056   PMID:22863883  
PMID:23443559   PMID:23453270   PMID:24255178   PMID:24722188   PMID:24778252   PMID:24982445   PMID:25184681   PMID:25416956   PMID:25492966   PMID:25921289   PMID:26186194   PMID:26344197  
PMID:26362536   PMID:26496610   PMID:26663347   PMID:26839216   PMID:26972000   PMID:27075696   PMID:27609421   PMID:27876801   PMID:27880917   PMID:28330616   PMID:28514442   PMID:28675297  
PMID:28720060   PMID:28986522   PMID:29117863   PMID:29121065   PMID:29348417   PMID:29507755   PMID:29509190   PMID:29884807   PMID:29892012   PMID:29997244   PMID:30005669   PMID:30021884  
PMID:30194290   PMID:30232004   PMID:30413534   PMID:30639242   PMID:30805892   PMID:30979931   PMID:31091453   PMID:31239290   PMID:31240132   PMID:31515488   PMID:31527615   PMID:31753913  
PMID:32296183   PMID:33001583   PMID:33187986   PMID:33215388   PMID:33957083   PMID:34079125  


Genomics

Comparative Map Data
PPFIA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1170,270,690 - 70,385,312 (+)EnsemblGRCh38hg38GRCh38
GRCh381170,270,687 - 70,384,405 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371170,116,796 - 70,230,502 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361169,794,471 - 69,908,150 (+)NCBINCBI36hg18NCBI36
Build 341169,794,470 - 69,902,146NCBI
Celera1167,376,164 - 67,491,698 (+)NCBI
Cytogenetic Map11q13.3NCBI
HuRef1166,374,574 - 66,491,659 (+)NCBIHuRef
CHM1_11169,999,952 - 70,114,102 (+)NCBICHM1_1
Ppfia1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397144,030,492 - 144,107,497 (-)NCBIGRCm39mm39
GRCm39 Ensembl7144,030,495 - 144,107,466 (-)Ensembl
GRCm387144,476,755 - 144,553,762 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7144,476,758 - 144,553,729 (-)EnsemblGRCm38mm10GRCm38
MGSCv377151,662,883 - 151,739,591 (-)NCBIGRCm37mm9NCBIm37
MGSCv367144,286,155 - 144,363,119 (-)NCBImm8
Celera7144,239,654 - 144,316,313 (-)NCBICelera
Cytogenetic Map7F5NCBI
Ppfia1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21199,641,277 - 199,718,371 (-)NCBImRatBN7.2
Rnor_6.0 Ensembl1217,644,224 - 217,721,376 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01217,644,259 - 217,721,285 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01224,501,043 - 224,578,551 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01222,200,653 - 222,216,178 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41204,907,328 - 204,984,408 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11205,061,640 - 205,139,124 (-)NCBI
Celera1197,200,811 - 197,276,774 (-)NCBICelera
Cytogenetic Map1q42NCBI
Ppfia1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542215,892,566 - 15,998,786 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542215,892,945 - 15,998,786 (-)NCBIChiLan1.0ChiLan1.0
PPFIA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11168,656,692 - 68,770,842 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1168,657,638 - 68,769,464 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01165,368,262 - 65,486,023 (+)NCBIMhudiblu_PPA_v0panPan3
PPFIA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11847,974,109 - 48,060,331 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1847,975,441 - 48,058,377 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1846,584,324 - 46,669,897 (-)NCBI
ROS_Cfam_1.01848,651,631 - 48,737,237 (-)NCBI
UMICH_Zoey_3.11848,098,783 - 48,184,312 (-)NCBI
UNSW_CanFamBas_1.01847,684,611 - 47,770,122 (-)NCBI
UU_Cfam_GSD_1.01848,430,559 - 48,516,177 (-)NCBI
Ppfia1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049474,081,185 - 4,167,361 (-)NCBI
SpeTri2.0NW_004936599523,534 - 609,782 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PPFIA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl23,073,236 - 3,164,038 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.123,073,236 - 3,165,476 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.221,493,699 - 1,537,667 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PPFIA1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.114,184,592 - 4,302,677 (-)NCBI
ChlSab1.1 Ensembl14,181,681 - 4,301,206 (-)Ensembl
Vero_WHO_p1.0NW_023666038101,453,538 - 101,571,666 (-)NCBI
Ppfia1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476716,905,196 - 17,024,407 (-)NCBI

Position Markers
SHGC-147791  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,139,471 - 70,139,756UniSTSGRCh37
Build 361169,817,119 - 69,817,404RGDNCBI36
Celera1167,398,808 - 67,399,093RGD
Cytogenetic Map11q13.3UniSTS
HuRef1166,397,020 - 66,397,305UniSTS
TNG Radiation Hybrid Map1131577.0UniSTS
SHGC-36533  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,230,379 - 70,230,503UniSTSGRCh37
Build 361169,908,027 - 69,908,151RGDNCBI36
Celera1167,491,575 - 67,491,699RGD
Cytogenetic Map11q13.3UniSTS
HuRef1166,491,431 - 66,491,555UniSTS
Stanford-G3 RH Map113072.0UniSTS
GeneMap99-G3 RH Map113072.0UniSTS
SHGC-35519  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,224,308 - 70,224,441UniSTSGRCh37
Build 361169,901,956 - 69,902,089RGDNCBI36
Celera1167,485,504 - 67,485,637RGD
Cytogenetic Map11q13.3UniSTS
HuRef1166,485,360 - 66,485,493UniSTS
Stanford-G3 RH Map113048.0UniSTS
GeneMap99-GB4 RH Map11259.82UniSTS
Whitehead-RH Map11362.4UniSTS
NCBI RH Map11587.1UniSTS
GeneMap99-G3 RH Map113048.0UniSTS
STS-N35019  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,230,288 - 70,230,500UniSTSGRCh37
Build 361169,907,936 - 69,908,148RGDNCBI36
Celera1167,491,484 - 67,491,696RGD
Cytogenetic Map11q13.3UniSTS
HuRef1166,491,340 - 66,491,552UniSTS
GeneMap99-GB4 RH Map11262.76UniSTS
D11S1223  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,209,273 - 70,209,423UniSTSGRCh37
Build 361169,886,921 - 69,887,071RGDNCBI36
Celera1167,468,612 - 67,468,762RGD
Cytogenetic Map11q13.3UniSTS
HuRef1166,466,668 - 66,466,818UniSTS
SGC36985  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q13.3UniSTS
GeneMap99-GB4 RH Map11253.84UniSTS
Whitehead-RH Map11356.8UniSTS
NCBI RH Map11597.0UniSTS
STS-H97922  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q13.3UniSTS
GeneMap99-GB4 RH Map11261.44UniSTS
NCBI RH Map11597.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7592
Count of miRNA genes:1307
Interacting mature miRNAs:1721
Transcripts:ENST00000253925, ENST00000389547, ENST00000525530, ENST00000525922, ENST00000526074, ENST00000526262, ENST00000526347, ENST00000526369, ENST00000527612, ENST00000528284, ENST00000528750, ENST00000528853, ENST00000530294, ENST00000530390, ENST00000530548, ENST00000530746, ENST00000530798, ENST00000530932, ENST00000531657, ENST00000532024, ENST00000532443, ENST00000532504, ENST00000532793, ENST00000533894
Prediction methods:Microtar, 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.


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
Medium 1875 1504 1279 219 899 110 3845 1242 2371 279 1389 1594 126 1 1169 2329 6 2
Low 564 1487 447 405 1052 355 512 955 1363 140 71 19 49 35 459
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001378006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_177423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_045286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW163189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF352121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK902590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D49354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LJII02000157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U22815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U22816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000253925   ⟹   ENSP00000253925
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1170,270,700 - 70,384,400 (+)Ensembl
RefSeq Acc Id: ENST00000389547   ⟹   ENSP00000374198
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1170,270,717 - 70,378,580 (+)Ensembl
RefSeq Acc Id: ENST00000525530
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1170,329,893 - 70,332,046 (+)Ensembl
RefSeq Acc Id: ENST00000525922
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1170,367,506 - 70,372,534 (+)Ensembl
RefSeq Acc Id: ENST00000526074
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1170,341,007 - 70,355,736 (+)Ensembl
RefSeq Acc Id: ENST00000526262   ⟹   ENSP00000435752
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1170,326,344 - 70,384,403 (+)Ensembl
RefSeq Acc Id: ENST00000526347
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1170,340,977 - 70,355,741 (+)Ensembl
RefSeq Acc Id: ENST00000526369   ⟹   ENSP00000437024
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1170,337,397 - 70,348,300 (+)Ensembl
RefSeq Acc Id: ENST00000527612
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1170,354,203 - 70,362,175 (+)Ensembl
RefSeq Acc Id: ENST00000528284
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1170,341,873 - 70,348,261 (+)Ensembl
RefSeq Acc Id: ENST00000528750   ⟹   ENSP00000434445
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1170,343,751 - 70,362,463 (+)Ensembl
RefSeq Acc Id: ENST00000528853   ⟹   ENSP00000434692
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1170,378,078 - 70,383,629 (+)Ensembl
RefSeq Acc Id: ENST00000530294
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1170,340,996 - 70,356,254 (+)Ensembl
RefSeq Acc Id: ENST00000530390   ⟹   ENSP00000435978
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1170,348,375 - 70,362,472 (+)Ensembl
RefSeq Acc Id: ENST00000530548
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1170,364,342 - 70,384,394 (+)Ensembl
RefSeq Acc Id: ENST00000530746   ⟹   ENSP00000432722
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1170,271,220 - 70,324,955 (+)Ensembl
RefSeq Acc Id: ENST00000530798   ⟹   ENSP00000433114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1170,335,613 - 70,356,205 (+)Ensembl
RefSeq Acc Id: ENST00000530932
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1170,327,554 - 70,335,571 (+)Ensembl
RefSeq Acc Id: ENST00000531657
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1170,371,327 - 70,384,394 (+)Ensembl
RefSeq Acc Id: ENST00000532024   ⟹   ENSP00000432065
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1170,271,907 - 70,324,434 (+)Ensembl
RefSeq Acc Id: ENST00000532443
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1170,334,352 - 70,339,201 (+)Ensembl
RefSeq Acc Id: ENST00000532504   ⟹   ENSP00000433619
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1170,270,773 - 70,384,387 (+)Ensembl
RefSeq Acc Id: ENST00000532793
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1170,362,135 - 70,362,795 (+)Ensembl
RefSeq Acc Id: ENST00000533894   ⟹   ENSP00000432913
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1170,345,915 - 70,355,712 (+)Ensembl
RefSeq Acc Id: ENST00000638133   ⟹   ENSP00000490647
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1170,355,704 - 70,372,539 (+)Ensembl
RefSeq Acc Id: ENST00000644155   ⟹   ENSP00000496327
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1170,272,228 - 70,385,312 (+)Ensembl
RefSeq Acc Id: ENST00000648755   ⟹   ENSP00000497908
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1170,271,922 - 70,385,312 (+)Ensembl
RefSeq Acc Id: NM_001378006   ⟹   NP_001364935
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,270,690 - 70,384,396 (+)NCBI
RefSeq Acc Id: NM_003626   ⟹   NP_003617
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,270,690 - 70,384,396 (+)NCBI
GRCh371170,116,806 - 70,230,607 (+)NCBI
Build 361169,794,471 - 69,908,150 (+)NCBI Archive
HuRef1166,374,574 - 66,491,659 (+)NCBI
CHM1_11169,999,952 - 70,114,102 (+)NCBI
Sequence:
RefSeq Acc Id: NM_177423   ⟹   NP_803172
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,270,690 - 70,378,471 (+)NCBI
GRCh371170,116,806 - 70,230,607 (+)NCBI
Build 361169,794,471 - 69,902,146 (+)NCBI Archive
HuRef1166,374,574 - 66,491,659 (+)NCBI
CHM1_11169,999,952 - 70,108,093 (+)NCBI
Sequence:
RefSeq Acc Id: NR_045286
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,270,690 - 70,384,396 (+)NCBI
GRCh371170,116,806 - 70,230,607 (+)NCBI
HuRef1166,374,574 - 66,491,659 (+)NCBI
CHM1_11169,999,952 - 70,114,102 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006718716   ⟹   XP_006718779
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,270,687 - 70,384,400 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545306   ⟹   XP_011543608
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,271,220 - 70,384,400 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545307   ⟹   XP_011543609
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,270,687 - 70,384,400 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545308   ⟹   XP_011543610
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,270,687 - 70,384,400 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545309   ⟹   XP_011543611
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,270,687 - 70,384,405 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545310   ⟹   XP_011543612
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,270,687 - 70,384,400 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545311   ⟹   XP_011543613
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,270,687 - 70,384,400 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545312   ⟹   XP_011543614
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,270,687 - 70,384,393 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545314   ⟹   XP_011543616
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,270,687 - 70,384,400 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545315   ⟹   XP_011543617
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,270,687 - 70,384,386 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545316   ⟹   XP_011543618
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,270,687 - 70,384,393 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545317   ⟹   XP_011543619
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,270,687 - 70,384,393 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545318   ⟹   XP_011543620
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,340,866 - 70,384,386 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545319   ⟹   XP_011543621
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,270,687 - 70,384,400 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018448   ⟹   XP_016873937
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,270,687 - 70,384,393 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018449   ⟹   XP_016873938
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,270,687 - 70,384,393 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018450   ⟹   XP_016873939
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,270,687 - 70,367,862 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001364935 (Get FASTA)   NCBI Sequence Viewer  
  NP_003617 (Get FASTA)   NCBI Sequence Viewer  
  NP_803172 (Get FASTA)   NCBI Sequence Viewer  
  XP_006718779 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543608 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543609 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543610 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543611 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543612 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543613 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543614 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543616 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543617 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543618 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543619 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543620 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543621 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873937 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873938 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873939 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC50172 (Get FASTA)   NCBI Sequence Viewer  
  AAC50173 (Get FASTA)   NCBI Sequence Viewer  
  AAH34046 (Get FASTA)   NCBI Sequence Viewer  
  BAA08353 (Get FASTA)   NCBI Sequence Viewer  
  BAD92551 (Get FASTA)   NCBI Sequence Viewer  
  BAG53890 (Get FASTA)   NCBI Sequence Viewer  
  BAG54059 (Get FASTA)   NCBI Sequence Viewer  
  EAW74763 (Get FASTA)   NCBI Sequence Viewer  
  EAW74764 (Get FASTA)   NCBI Sequence Viewer  
  EAW74765 (Get FASTA)   NCBI Sequence Viewer  
  Q13136 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_003617   ⟸   NM_003626
- Peptide Label: isoform b
- UniProtKB: Q13136 (UniProtKB/Swiss-Prot),   B3KVS8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_803172   ⟸   NM_177423
- Peptide Label: isoform a
- UniProtKB: Q13136 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006718779   ⟸   XM_006718716
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011543611   ⟸   XM_011545309
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011543609   ⟸   XM_011545307
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011543613   ⟸   XM_011545311
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011543614   ⟸   XM_011545312
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011543610   ⟸   XM_011545308
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011543618   ⟸   XM_011545316
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_011543616   ⟸   XM_011545314
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_011543619   ⟸   XM_011545317
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_011543612   ⟸   XM_011545310
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011543617   ⟸   XM_011545315
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_011543621   ⟸   XM_011545319
- Peptide Label: isoform X17
- Sequence:
RefSeq Acc Id: XP_011543608   ⟸   XM_011545306
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011543620   ⟸   XM_011545318
- Peptide Label: isoform X16
- Sequence:
RefSeq Acc Id: XP_016873937   ⟸   XM_017018448
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016873938   ⟸   XM_017018449
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: XP_016873939   ⟸   XM_017018450
- Peptide Label: isoform X15
- Sequence:
RefSeq Acc Id: NP_001364935   ⟸   NM_001378006
- Peptide Label: isoform c
RefSeq Acc Id: ENSP00000497908   ⟸   ENST00000648755
RefSeq Acc Id: ENSP00000253925   ⟸   ENST00000253925
RefSeq Acc Id: ENSP00000432722   ⟸   ENST00000530746
RefSeq Acc Id: ENSP00000435978   ⟸   ENST00000530390
RefSeq Acc Id: ENSP00000433114   ⟸   ENST00000530798
RefSeq Acc Id: ENSP00000490647   ⟸   ENST00000638133
RefSeq Acc Id: ENSP00000432065   ⟸   ENST00000532024
RefSeq Acc Id: ENSP00000374198   ⟸   ENST00000389547
RefSeq Acc Id: ENSP00000433619   ⟸   ENST00000532504
RefSeq Acc Id: ENSP00000432913   ⟸   ENST00000533894
RefSeq Acc Id: ENSP00000435752   ⟸   ENST00000526262
RefSeq Acc Id: ENSP00000437024   ⟸   ENST00000526369
RefSeq Acc Id: ENSP00000496327   ⟸   ENST00000644155
RefSeq Acc Id: ENSP00000434692   ⟸   ENST00000528853
RefSeq Acc Id: ENSP00000434445   ⟸   ENST00000528750
Protein Domains
SAM

Promoters
RGD ID:6789255
Promoter ID:HG_KWN:13550
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_003626,   NM_177423,   UC001OPP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361169,794,076 - 69,794,576 (+)MPROMDB
RGD ID:7221377
Promoter ID:EPDNEW_H16434
Type:initiation region
Name:PPFIA1_1
Description:PTPRF interacting protein alpha 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,270,690 - 70,270,750EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003626.3(PPFIA1):c.2961C>T (p.Cys987=) single nucleotide variant Malignant melanoma [RCV000069658] Chr11:70372310 [GRCh38]
Chr11:70218416 [GRCh37]
Chr11:69896064 [NCBI36]
Chr11:11q13.3
not provided
NM_003626.3(PPFIA1):c.1078-38G>T single nucleotide variant Lung cancer [RCV000110241] Chr11:70331922 [GRCh38]
Chr11:70178028 [GRCh37]
Chr11:11q13.3
uncertain significance
GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1 copy number loss See cases [RCV000142138] Chr11:68031693..71593495 [GRCh38]
Chr11:67799160..71304541 [GRCh37]
Chr11:67555736..70982189 [NCBI36]
Chr11:11q13.2-13.4
likely pathogenic
GRCh37/hg19 11q13.3-13.4(chr11:70091717-70723080)x3 copy number gain See cases [RCV000448513] Chr11:70091717..70723080 [GRCh37]
Chr11:11q13.3-13.4
uncertain significance
GRCh37/hg19 11q13.2-13.4(chr11:67799160-70701268)x1 copy number loss See cases [RCV000510219] Chr11:67799160..70701268 [GRCh37]
Chr11:11q13.2-13.4
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q13.3(chr11:70072759-70353476)x3 copy number gain not provided [RCV000683325] Chr11:70072759..70353476 [GRCh37]
Chr11:11q13.3
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_003626.4(PPFIA1):c.2892C>T (p.His964=) single nucleotide variant not provided [RCV000959986] Chr11:70372241 [GRCh38]
Chr11:70218347 [GRCh37]
Chr11:11q13.3
benign
NM_003626.4(PPFIA1):c.2273C>T (p.Ala758Val) single nucleotide variant not provided [RCV000959985] Chr11:70354410 [GRCh38]
Chr11:70200516 [GRCh37]
Chr11:11q13.3
benign
GRCh37/hg19 11q13.3-13.4(chr11:69849324-70478959)x3 copy number gain not provided [RCV000846557] Chr11:69849324..70478959 [GRCh37]
Chr11:11q13.3-13.4
uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9245 AgrOrtholog
COSMIC PPFIA1 COSMIC
Ensembl Genes ENSG00000131626 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000253925 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000374198 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000432065 UniProtKB/TrEMBL
  ENSP00000432722 UniProtKB/TrEMBL
  ENSP00000432913 UniProtKB/TrEMBL
  ENSP00000433114 UniProtKB/TrEMBL
  ENSP00000433619 UniProtKB/TrEMBL
  ENSP00000434445 UniProtKB/TrEMBL
  ENSP00000434692 UniProtKB/TrEMBL
  ENSP00000435752 UniProtKB/TrEMBL
  ENSP00000435978 UniProtKB/TrEMBL
  ENSP00000437024 UniProtKB/TrEMBL
  ENSP00000490647 UniProtKB/TrEMBL
  ENSP00000496327 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000497908 UniProtKB/TrEMBL
Ensembl Transcript ENST00000253925 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000389547 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000526262 UniProtKB/TrEMBL
  ENST00000526369 UniProtKB/TrEMBL
  ENST00000528750 UniProtKB/TrEMBL
  ENST00000528853 UniProtKB/TrEMBL
  ENST00000530390 UniProtKB/TrEMBL
  ENST00000530746 UniProtKB/TrEMBL
  ENST00000530798 UniProtKB/TrEMBL
  ENST00000532024 UniProtKB/TrEMBL
  ENST00000532504 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000533894 UniProtKB/TrEMBL
  ENST00000638133 UniProtKB/TrEMBL
  ENST00000644155 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000648755 UniProtKB/TrEMBL
Gene3D-CATH 1.10.150.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000131626 GTEx
HGNC ID HGNC:9245 ENTREZGENE
Human Proteome Map PPFIA1 Human Proteome Map
InterPro Liprin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Liprin-alpha_SAM_rpt_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Liprin-alpha_SAM_rpt_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Liprin-alpha_SAM_rpt_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPFIA1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM/pointed_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8500 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8500 ENTREZGENE
OMIM 611054 OMIM
PANTHER PTHR12587 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12587:SF15 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SAM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33566 PharmGKB
PROSITE SAM_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47769 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B0GVT3_HUMAN UniProtKB/TrEMBL
  A0A2R8Y7R9_HUMAN UniProtKB/TrEMBL
  A0A3B3ITS2_HUMAN UniProtKB/TrEMBL
  B3KVS8 ENTREZGENE, UniProtKB/TrEMBL
  E9PID5_HUMAN UniProtKB/TrEMBL
  E9PJZ7_HUMAN UniProtKB/TrEMBL
  E9PPF6_HUMAN UniProtKB/TrEMBL
  H0YD39_HUMAN UniProtKB/TrEMBL
  H0YD72_HUMAN UniProtKB/TrEMBL
  H0YDW2_HUMAN UniProtKB/TrEMBL
  H0YDZ8_HUMAN UniProtKB/TrEMBL
  H0YEF9_HUMAN UniProtKB/TrEMBL
  H0YEK0_HUMAN UniProtKB/TrEMBL
  H0YF15_HUMAN UniProtKB/TrEMBL
  LIPA1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A6NLE3 UniProtKB/Swiss-Prot
  Q13135 UniProtKB/Swiss-Prot
  Q14567 UniProtKB/Swiss-Prot
  Q8N4I2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 PPFIA1  PTPRF interacting protein alpha 1  PPFIA1  protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1  Symbol and/or name change 5135510 APPROVED