PLEKHO1 (pleckstrin homology domain containing O1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: PLEKHO1 (pleckstrin homology domain containing O1) Homo sapiens
Analyze
Symbol: PLEKHO1
Name: pleckstrin homology domain containing O1
RGD ID: 1606003
HGNC Page HGNC:24310
Description: Predicted to be involved in regulation of myoblast fusion. Predicted to act upstream of or within several processes, including lamellipodium morphogenesis; myoblast fusion; and myoblast migration. Predicted to be located in cytoplasm; nucleus; and plasma membrane. Predicted to be active in muscle cell projection membrane and ruffle membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 2810052M02Rik; C-Jun-binding protein; casein kinase 2-interacting protein 1; CK2 interacting protein 1; CK2-interacting protein 1; CKIP-1; CKIP1; HQ0024c protein; JBP; OC120; osteoclast maturation-associated gene 120 protein; PH domain-containing family O member 1; pleckstrin homology domain containing, family O member 1; pleckstrin homology domain-containing family O member 1; RP11-458I7.3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381150,149,646 - 150,160,065 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1150,149,183 - 150,164,720 (+)EnsemblGRCh38hg38GRCh38
GRCh371150,121,836 - 150,132,260 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361148,388,794 - 148,398,449 (+)NCBINCBI36Build 36hg18NCBI36
Celera1123,237,889 - 123,247,544 (+)NCBICelera
Cytogenetic Map1q21.2NCBI
HuRef1121,502,507 - 121,511,229 (+)NCBIHuRef
CHM1_11151,518,106 - 151,527,756 (+)NCBICHM1_1
T2T-CHM13v2.01149,274,323 - 149,284,749 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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:8125298   PMID:10799509   PMID:11076863   PMID:12477932   PMID:14702039   PMID:15254037   PMID:15342556   PMID:15489336   PMID:15706351   PMID:15761153   PMID:15831458   PMID:16325375  
PMID:16344560   PMID:16381901   PMID:16713569   PMID:16987810   PMID:17197158   PMID:17942896   PMID:18624398   PMID:18641638   PMID:20171213   PMID:20368287   PMID:20484049   PMID:20580715  
PMID:21382345   PMID:21873635   PMID:22046132   PMID:22152476   PMID:22878216   PMID:23032291   PMID:23583459   PMID:23995790   PMID:24465689   PMID:24777252   PMID:25056061   PMID:25966172  
PMID:26160174   PMID:26186194   PMID:27840970   PMID:28083909   PMID:28212865   PMID:28402261   PMID:28404913   PMID:28514442   PMID:29852799   PMID:30021884   PMID:30194290   PMID:31082489  
PMID:31180521   PMID:31355268   PMID:32223671   PMID:32296183   PMID:32994395   PMID:33637726   PMID:33961781   PMID:35271311  


Genomics

Comparative Map Data
PLEKHO1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381150,149,646 - 150,160,065 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1150,149,183 - 150,164,720 (+)EnsemblGRCh38hg38GRCh38
GRCh371150,121,836 - 150,132,260 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361148,388,794 - 148,398,449 (+)NCBINCBI36Build 36hg18NCBI36
Celera1123,237,889 - 123,247,544 (+)NCBICelera
Cytogenetic Map1q21.2NCBI
HuRef1121,502,507 - 121,511,229 (+)NCBIHuRef
CHM1_11151,518,106 - 151,527,756 (+)NCBICHM1_1
T2T-CHM13v2.01149,274,323 - 149,284,749 (+)NCBIT2T-CHM13v2.0
Plekho1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39395,896,121 - 95,903,300 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl395,895,741 - 95,903,313 (-)EnsemblGRCm39 Ensembl
GRCm38395,988,809 - 95,999,355 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl395,988,429 - 95,996,001 (-)EnsemblGRCm38mm10GRCm38
MGSCv37395,792,751 - 95,799,762 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36396,074,233 - 96,081,244 (-)NCBIMGSCv36mm8
Celera397,422,723 - 97,429,850 (-)NCBICelera
Cytogenetic Map3F2.1NCBI
Plekho1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22183,544,487 - 183,552,928 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2183,544,499 - 183,552,785 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2191,208,081 - 191,216,052 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.02189,012,540 - 189,020,482 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.02183,840,633 - 183,848,604 (-)NCBIRnor_WKY
Rnor_6.02198,112,104 - 198,120,202 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2198,112,076 - 198,120,120 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02217,601,880 - 217,609,978 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42190,787,503 - 190,796,057 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12190,750,270 - 190,758,811 (-)NCBI
Celera2176,073,021 - 176,080,794 (-)NCBICelera
Cytogenetic Map2q34NCBI
Plekho1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955413603,128 - 616,015 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955413603,011 - 606,487 (-)NCBIChiLan1.0ChiLan1.0
PLEKHO1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11129,147,114 - 129,157,401 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1129,146,459 - 129,157,401 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01125,494,740 - 125,504,990 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PLEKHO1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11759,402,758 - 59,411,906 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1759,402,834 - 59,411,788 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1758,849,824 - 58,858,981 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01760,398,910 - 60,408,051 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1760,398,979 - 60,408,250 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11759,248,504 - 59,257,633 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01759,332,396 - 59,341,732 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01760,059,457 - 60,068,599 (+)NCBIUU_Cfam_GSD_1.0
Plekho1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505821,409,723 - 21,416,853 (+)NCBIHiC_Itri_2
SpeTri2.0NW_004936580440,111 - 448,651 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PLEKHO1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl498,923,996 - 98,934,189 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1498,924,115 - 98,934,610 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24108,197,951 - 108,208,439 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PLEKHO1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366603813,137,552 - 13,148,013 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Plekho1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477217,889,560 - 17,901,213 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477217,889,528 - 17,898,739 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Position Markers
A005Z14  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371150,131,628 - 150,131,769UniSTSGRCh37
Build 361148,398,252 - 148,398,393RGDNCBI36
Celera1123,247,347 - 123,247,488RGD
Cytogenetic Map1q21.2UniSTS
HuRef1121,511,032 - 121,511,173UniSTS
GeneMap99-GB4 RH Map1553.55UniSTS
NCBI RH Map1997.6UniSTS
D1S3340  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371150,131,535 - 150,131,785UniSTSGRCh37
Build 361148,398,159 - 148,398,409RGDNCBI36
Celera1123,247,254 - 123,247,504RGD
Cytogenetic Map1q21.2UniSTS
HuRef1121,510,939 - 121,511,189UniSTS
GeneMap99-GB4 RH Map1552.86UniSTS
GeneMap99-GB4 RH Map1543.71UniSTS
Whitehead-RH Map1627.5UniSTS
NCBI RH Map1997.6UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2317
Count of miRNA genes:884
Interacting mature miRNAs:1074
Transcripts:ENST00000025469, ENST00000369124, ENST00000369126, ENST00000441340, ENST00000466659, ENST00000477309, ENST00000479194, ENST00000485470, ENST00000492304
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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 2087 2791 1264 166 1810 86 3502 1920 3436 215 1327 1432 83 1195 2351 1
Low 309 197 461 458 126 379 853 275 289 202 126 171 90 1 9 437 2 2
Below cutoff 40 1 14 1 7 2 6 9 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001304722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001304723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001304724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC242988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF073836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF168676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF192912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF217956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF291105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL358073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP329810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX353413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX376480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX394578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA604331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB023901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY006501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000369124   ⟹   ENSP00000358120
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1150,149,916 - 150,160,065 (+)Ensembl
RefSeq Acc Id: ENST00000369126   ⟹   ENSP00000358122
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1150,149,183 - 150,159,630 (+)Ensembl
RefSeq Acc Id: ENST00000441340
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1150,156,929 - 150,159,324 (+)Ensembl
RefSeq Acc Id: ENST00000477309
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1150,155,790 - 150,157,195 (+)Ensembl
RefSeq Acc Id: ENST00000479194
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1150,150,607 - 150,159,043 (+)Ensembl
RefSeq Acc Id: ENST00000485470
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1150,157,017 - 150,158,986 (+)Ensembl
RefSeq Acc Id: ENST00000492304
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1150,150,637 - 150,153,023 (+)Ensembl
RefSeq Acc Id: ENST00000502767
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1150,159,405 - 150,164,720 (+)Ensembl
RefSeq Acc Id: ENST00000607609
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1150,153,483 - 150,159,628 (+)Ensembl
RefSeq Acc Id: NM_001304722   ⟹   NP_001291651
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,149,646 - 150,160,065 (+)NCBI
CHM1_11151,517,560 - 151,528,191 (+)NCBI
T2T-CHM13v2.01149,274,323 - 149,284,749 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001304723   ⟹   NP_001291652
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,150,597 - 150,160,065 (+)NCBI
CHM1_11151,518,712 - 151,528,191 (+)NCBI
T2T-CHM13v2.01149,275,274 - 149,284,749 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001304724   ⟹   NP_001291653
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,149,646 - 150,160,065 (+)NCBI
CHM1_11151,517,560 - 151,528,191 (+)NCBI
T2T-CHM13v2.01149,274,323 - 149,284,749 (+)NCBI
Sequence:
RefSeq Acc Id: NM_016274   ⟹   NP_057358
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,149,916 - 150,160,065 (+)NCBI
GRCh371150,122,170 - 150,131,825 (+)ENTREZGENE
Build 361148,388,794 - 148,398,449 (+)NCBI Archive
HuRef1121,502,507 - 121,511,229 (+)ENTREZGENE
CHM1_11151,518,028 - 151,528,191 (+)NCBI
T2T-CHM13v2.01149,274,593 - 149,284,749 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_057358   ⟸   NM_016274
- Peptide Label: isoform a
- UniProtKB: Q9UL48 (UniProtKB/Swiss-Prot),   Q53GL0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001291651   ⟸   NM_001304722
- Peptide Label: isoform b
- UniProtKB: Q53GL0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001291653   ⟸   NM_001304724
- Peptide Label: isoform c
- UniProtKB: Q53GL0 (UniProtKB/Swiss-Prot),   Q5T4P9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001291652   ⟸   NM_001304723
- Peptide Label: isoform b
- UniProtKB: Q53GL0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000358122   ⟸   ENST00000369126
RefSeq Acc Id: ENSP00000358120   ⟸   ENST00000369124
Protein Domains
PH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q53GL0-F1-model_v2 AlphaFold Q53GL0 1-409 view protein structure

Promoters
RGD ID:6809664
Promoter ID:HG_ACW:3977
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:PLEKHO1.MAPR07,   PLEKHO1.NAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 361148,390,261 - 148,390,762 (+)MPROMDB
RGD ID:6786265
Promoter ID:HG_KWN:4903
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000087240,   UC001ETU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361148,393,311 - 148,394,312 (+)MPROMDB
RGD ID:6786267
Promoter ID:HG_KWN:4904
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000087239,   OTTHUMT00000095839
Position:
Human AssemblyChrPosition (strand)Source
Build 361148,395,961 - 148,396,461 (+)MPROMDB
RGD ID:6857122
Promoter ID:EPDNEW_H1637
Type:initiation region
Name:PLEKHO1_1
Description:pleckstrin homology domain containing O1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1638  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,149,916 - 150,149,976EPDNEW
RGD ID:6856946
Promoter ID:EPDNEW_H1638
Type:initiation region
Name:PLEKHO1_2
Description:pleckstrin homology domain containing O1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1637  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,151,033 - 150,151,093EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q21.2(chr1:150034379-150414215)x1 copy number loss See cases [RCV000051175] Chr1:150034379..150414215 [GRCh38]
Chr1:150006344..150311095 [GRCh37]
Chr1:148272968..148653315 [NCBI36]
Chr1:1q21.2
uncertain significance
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2
pathogenic
GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV000223957] Chr1:144927578..153223600 [GRCh37]
Chr1:1q21.1-21.3
pathogenic
GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3 copy number gain See cases [RCV000447109] Chr1:143753740..151399970 [GRCh37]
Chr1:1q21.1-21.3
pathogenic
GRCh37/hg19 1q21.2(chr1:149895368-150130518)x1 copy number loss See cases [RCV000448613] Chr1:149895368..150130518 [GRCh37]
Chr1:1q21.2
pathogenic|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_016274.6(PLEKHO1):c.865C>T (p.Leu289=) single nucleotide variant not provided [RCV000893847] Chr1:150159158 [GRCh38]
Chr1:150131353 [GRCh37]
Chr1:1q21.2
benign
NM_016274.6(PLEKHO1):c.31-4G>T single nucleotide variant not provided [RCV000965565] Chr1:150150908 [GRCh38]
Chr1:150123098 [GRCh37]
Chr1:1q21.2
benign
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NC_000001.10:g.(?_149895434)_(156851434_?)dup duplication Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001958273]|Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001958271]|MHC class II deficiency [RCV001992607]|Symmetrical dyschromatosis of extremities [RCV001958272] Chr1:149895434..156851434 [GRCh37]
Chr1:1q21.2-23.1
uncertain significance
NC_000001.10:g.(?_150044213)_(150477474_?)dup duplication Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001920742] Chr1:150044213..150477474 [GRCh37]
Chr1:1q21.2-21.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24310 AgrOrtholog
COSMIC PLEKHO1 COSMIC
Ensembl Genes ENSG00000023902 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000358120 ENTREZGENE
  ENSP00000358120.4 UniProtKB/Swiss-Prot
  ENSP00000358122 ENTREZGENE
  ENSP00000358122.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000369124 ENTREZGENE
  ENST00000369124.5 UniProtKB/Swiss-Prot
  ENST00000369126 ENTREZGENE
  ENST00000369126.5 UniProtKB/TrEMBL
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot
GTEx ENSG00000023902 GTEx
HGNC ID HGNC:24310 ENTREZGENE
Human Proteome Map PLEKHO1 Human Proteome Map
InterPro CKIP-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot
  PH_domain UniProtKB/Swiss-Prot
  PKHO1/2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51177 UniProtKB/Swiss-Prot
NCBI Gene 51177 ENTREZGENE
OMIM 608335 OMIM
PANTHER PTHR15871 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15871:SF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF00169 UniProtKB/Swiss-Prot
PharmGKB PA142671167 PharmGKB
PROSITE PH_DOMAIN UniProtKB/Swiss-Prot
SMART SM00233 UniProtKB/Swiss-Prot
UniProt PKHO1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5T4P8_HUMAN UniProtKB/TrEMBL
  Q5T4P9 ENTREZGENE, UniProtKB/TrEMBL
  Q9UL48 ENTREZGENE
UniProt Secondary Q336K5 UniProtKB/Swiss-Prot
  Q8IZ51 UniProtKB/Swiss-Prot
  Q9NRV3 UniProtKB/Swiss-Prot
  Q9UL48 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PLEKHO1  pleckstrin homology domain containing O1    pleckstrin homology domain containing, family O member 1  Symbol and/or name change 5135510 APPROVED