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This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternat... See more...
Aliases for PLEKHA1 Gene
Aliases for PLEKHA1 Gene
External Ids for PLEKHA1 Gene
- HGNC: 14335
- Entrez Gene: 59338
- Ensembl: ENSG00000107679
- OMIM: 607772
- UniProtKB: Q9HB21
Previous GeneCards Identifiers for PLEKHA1 Gene
- GC10P123153
- GC10P123377
- GC10P124276
- GC10P123810
- GC10P124124
- GC10P117765
Summaries for PLEKHA1 Gene
-
This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Sep 2010]
GeneCards Summary for PLEKHA1 Gene
PLEKHA1 (Pleckstrin Homology Domain Containing A1) is a Protein Coding gene. Diseases associated with PLEKHA1 include Macular Degeneration, Age-Related, 1 and Degeneration Of Macula And Posterior Pole. Among its related pathways are ICos-ICosL Pathway in T-Helper Cell and IL-2 Pathway. Gene Ontology (GO) annotations related to this gene include PDZ domain binding and phosphatidylinositol-3,4-bisphosphate binding. An important paralog of this gene is PLEKHA2.
UniProtKB/Swiss-Prot Summary for PLEKHA1 Gene
-
Binds specifically to phosphatidylinositol 3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane.
Additional gene information for PLEKHA1 Gene
- HGNC(14335)
- Entrez Gene(59338)
- Ensembl(ENSG00000107679)
- OMIM(607772)
- UniProtKB(Q9HB21)
- Open Targets Platform(ENSG00000107679)
- Monarch Initiative
- Search for PLEKHA1 at DataMed
- Search for PLEKHA1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLEKHA1 Gene
Genomics for PLEKHA1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PLEKHA1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around PLEKHA1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLEKHA1
- Top Transcription factor binding sites by QIAGEN in the PLEKHA1 gene promoter:
-
- HNF-3beta
- HNF-4alpha1
- Pax-2
- Pax-2a
- TBP
- TFIID
Genomic Locations for PLEKHA1 Gene
Genomic Locations for PLEKHA1 Gene
- chr10:122,374,675-122,442,602
- (GRCh38/hg38)
- Size:
- 67,928 bases
- Orientation:
- Plus strand
- chr10:124,134,094-124,191,871
- (GRCh37/hg19)
- Size:
- 57,778 bases
- Orientation:
- Plus strand
Genomic View for PLEKHA1 Gene
Genes around PLEKHA1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10q26.13 by HGNC
- 10q26.13 by Entrez Gene
- 10q26.13 by Ensembl
PLEKHA1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PLEKHA1 Gene
Proteins for PLEKHA1 Gene
-
Protein details for PLEKHA1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9HB21-PKHA1_HUMAN
- Recommended name:
- Pleckstrin homology domain-containing family A member 1
- Protein Accession:
- Q9HB21
- B3KQ55
- D3DRE2
- Q9BVK0
Protein attributes for PLEKHA1 Gene
- Size:
- 404 amino acids
- Molecular mass:
- 45553 Da
- Quaternary structure:
-
- Interacts with MPDZ and PTPN13.
Protein Expression for PLEKHA1 Gene
Post-translational modifications for PLEKHA1 Gene
Other Protein References for PLEKHA1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_011538319.1
- XP_011538320.1
- XP_011538321.1
- XP_011538323.1
- XP_011538324.1
- XP_011538326.1
- XP_016871967.1
- XP_016871968.1
- XP_016871969.1
- XP_016871970.1
- XP_016871971.1
- XP_016871972.1
- XP_016871973.1
- XP_016871975.1
- XP_016871976.1
- XP_016871978.1
- XP_016871979.1
- XP_024303875.1
- XP_024303876.1
- XP_024303877.1
- XP_024303878.1
- XP_024303879.1
- XP_024303881.1
- XP_024303882.1
- XP_024303883.1
- NP_001001974.1
- NP_001182537.1
- NP_001317107.1
- NP_001364159.1
- NP_001364160.1
- NP_001364161.1
- NP_001364163.1
- NP_001364164.1
- NP_001364166.1
- NP_001364167.1
- NP_001364169.1
- NP_001364170.1
- NP_001364171.1
- NP_001364172.1
- NP_001364173.1
- NP_001364174.1
- NP_001364175.1
- NP_001364176.1
- NP_001364177.1
- NP_001364178.1
- NP_001364179.1
- NP_001364180.1
- NP_001364181.1
- NP_001364182.1
- NP_001364183.1
- NP_001364184.1
- NP_001364185.1
- NP_001364186.1
- NP_001364187.1
- NP_067635.2
Antibody Products
- Creative Diagnostics Anti-PLEKHA1 monoclonal antibody, clone FQS23172
-
Custom Antibody ServicesOriGene Antibodies for PLEKHA1
- Novus Biologicals Antibodies for PLEKHA1
- Invitrogen Antibodies for PLEKHA1 (AFLGC-PLEKHA1)
-
Biorbyt antibodies for PLEKHA1
-
Boster Bio Antibodies for PLEKHA1
-
Santa Cruz Biotechnology (SCBT) Antibodies for PLEKHA1
Protein Products
-
OriGene Purified Proteins for PLEKHA1
- Search Origene for MassSpec and Protein Over-expression Lysates for PLEKHA1
- Origene Custom Protein Services for PLEKHA1
-
Signalway Proteins for PLEKHA1
-
Abcam proteins for PLEKHA1
No data available for DME Specific Peptides for PLEKHA1 Gene
Domains & Families for PLEKHA1 Gene
Gene Families for PLEKHA1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for PLEKHA1 Gene
- InterPro:
- Blocks:
-
- Pleckstrin-like
- ProtoNet:
Suggested Antigen Peptide Sequences for PLEKHA1 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ32901 fis, clone TESTI2005584, highly similar to Pleckstrin homology domain-containing family A member 1 (B3KQ55_HUMAN)
- Tandem PH domain-containing protein 1 (PKHA1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9HB21UniProtKB/Swiss-Prot:
PKHA1_HUMAN :- Binds to membranes enriched in PtdIns3,4P2 via the C-terminal PH domain.
- Domain:
-
- Binds to membranes enriched in PtdIns3,4P2 via the C-terminal PH domain.
Function for PLEKHA1 Gene
Molecular function for PLEKHA1 Gene
- UniProtKB/Swiss-Prot Function:
- Binds specifically to phosphatidylinositol 3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane.
Phenotypes From GWAS Catalog for PLEKHA1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 11802782 |
| GO:0008289 | lipid binding | IEA | -- |
| GO:0030165 | PDZ domain binding | IPI | 11802782 |
| GO:0043325 | phosphatidylinositol-3,4-bisphosphate binding | IDA | 11001876 |
Phenotypes for PLEKHA1 Gene
- MGI mutant phenotypes for PLEKHA1:
-
inferred from 3 alleles
- normal phenotype
- cardiovascular system phenotype
- cellular phenotype
- mortality/aging
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- skeleton phenotype
- hematopoietic system phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for PLEKHA1:
Animal Models for PLEKHA1 Gene
- MGI Knock Outs for PLEKHA1:
-
- Plekha1 Plekha1<tm1b(EUCOMM)Hmgu>
Animal Model Products
-
Taconic Biosciences Mouse Models for PLEKHA1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PLEKHA1 - Select products 50% OFF >
- * PLEKHA1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PLEKHA1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PLEKHA1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PLEKHA1
miRNA for PLEKHA1 Gene
- miRTarBase miRNAs that target PLEKHA1
-
- mmu-miR-362-5p (MIRT009056)
- mmu-miR-340-5p (MIRT010657)
- mmu-miR-30e-5p (MIRT013460)
- mmu-miR-181a-5p (MIRT014371)
- hsa-miR-590-3p (MIRT016210)
- hsa-miR-335-5p (MIRT017173)
- hsa-miR-124-3p (MIRT022329)
- hsa-miR-93-5p (MIRT028076)
- hsa-miR-32-5p (MIRT028276)
- hsa-miR-26b-5p (MIRT029065)
- hsa-miR-21-5p (MIRT030792)
- hsa-miR-769-5p (MIRT039173)
- hsa-miR-25-3p (MIRT055786)
- hsa-miR-92a-3p (MIRT055787)
- hsa-miR-125b-2-3p (MIRT055788)
- hsa-miR-190a-3p (MIRT055789)
- hsa-miR-363-3p (MIRT055790)
- hsa-miR-367-3p (MIRT055791)
- hsa-miR-338-3p (MIRT055792)
- hsa-miR-92b-3p (MIRT055793)
- hsa-miR-634 (MIRT055795)
- hsa-miR-1179 (MIRT055796)
- hsa-miR-4310 (MIRT055797)
- hsa-miR-5011-5p (MIRT055800)
- hsa-miR-5697 (MIRT055801)
- hsa-miR-7157-5p (MIRT055802)
- hsa-miR-371a-5p (MIRT055803)
- hsa-miR-372-5p (MIRT055804)
- hsa-miR-373-5p (MIRT055805)
- hsa-miR-616-5p (MIRT055806)
- hsa-miR-630 (MIRT055807)
- hsa-miR-371b-5p (MIRT055809)
- hsa-miR-6883-3p (MIRT055810)
- hsa-miR-15a-5p (MIRT055811)
- hsa-miR-16-5p (MIRT055812)
- hsa-miR-103a-3p (MIRT055813)
- hsa-miR-107 (MIRT055814)
- hsa-miR-15b-5p (MIRT055816)
- hsa-miR-195-5p (MIRT055817)
- hsa-miR-424-5p (MIRT055818)
- hsa-miR-497-5p (MIRT055819)
- hsa-miR-3607-5p (MIRT055824)
- hsa-miR-4524a-5p (MIRT055826)
- hsa-miR-5197-5p (MIRT055827)
- hsa-miR-4524b-5p (MIRT055828)
- hsa-miR-6838-5p (MIRT055829)
- hsa-let-7e-3p (MIRT055836)
- hsa-miR-545-3p (MIRT055837)
- hsa-miR-570-5p (MIRT055838)
- hsa-miR-3148 (MIRT055840)
- hsa-miR-548ag (MIRT055841)
- hsa-miR-548ai (MIRT055842)
- hsa-miR-4477a (MIRT055843)
- hsa-miR-4678 (MIRT055845)
- hsa-miR-548ba (MIRT055846)
- hsa-miR-3973 (MIRT110447)
- hsa-miR-124-5p (MIRT110455)
- hsa-miR-3607-3p (MIRT261690)
- hsa-miR-1206 (MIRT404445)
- hsa-miR-3650 (MIRT404446)
- hsa-miR-7154-5p (MIRT404448)
- hsa-miR-411-5p (MIRT470910)
- hsa-miR-520h (MIRT501583)
- hsa-miR-520g-3p (MIRT501584)
- hsa-miR-4272 (MIRT501585)
- hsa-miR-4470 (MIRT555554)
- hsa-miR-548o-3p (MIRT555555)
- hsa-miR-1323 (MIRT555556)
- hsa-miR-1278 (MIRT555557)
- hsa-miR-646 (MIRT555558)
- hsa-miR-503-5p (MIRT555559)
- hsa-miR-1183 (MIRT555560)
- hsa-miR-101-3p (MIRT555561)
- hsa-miR-433-3p (MIRT566382)
- hsa-miR-6853-3p (MIRT566383)
- hsa-miR-4455 (MIRT566384)
- hsa-miR-8060 (MIRT566385)
- hsa-miR-514b-5p (MIRT566386)
- hsa-miR-513c-5p (MIRT566387)
- hsa-miR-454-5p (MIRT566388)
- hsa-miR-6866-3p (MIRT566389)
- hsa-miR-188-5p (MIRT566390)
- hsa-miR-6513-5p (MIRT674065)
- hsa-miR-887-5p (MIRT674066)
- hsa-miR-3913-5p (MIRT674067)
- hsa-miR-3122 (MIRT674068)
- hsa-miR-450a-1-3p (MIRT674069)
- hsa-miR-6780a-5p (MIRT674070)
- hsa-miR-6779-5p (MIRT674071)
- hsa-miR-3689c (MIRT674072)
- hsa-miR-3689b-3p (MIRT674073)
- hsa-miR-3689a-3p (MIRT674074)
- hsa-miR-30b-3p (MIRT674075)
- hsa-miR-1273h-5p (MIRT674076)
- hsa-miR-6788-5p (MIRT674077)
- hsa-miR-30c-2-3p (MIRT674078)
- hsa-miR-30c-1-3p (MIRT674079)
- hsa-miR-7977 (MIRT674080)
- hsa-miR-4483 (MIRT674081)
- hsa-miR-1293 (MIRT674082)
- hsa-miR-6766-5p (MIRT674083)
- hsa-miR-6756-5p (MIRT674084)
- hsa-miR-6745 (MIRT674085)
- hsa-miR-363-5p (MIRT674086)
- hsa-miR-6799-5p (MIRT674087)
- hsa-miR-6883-5p (MIRT674088)
- hsa-miR-6785-5p (MIRT674089)
- hsa-miR-4728-5p (MIRT674090)
- hsa-miR-149-3p (MIRT674091)
- hsa-miR-7106-5p (MIRT674092)
- hsa-miR-6884-5p (MIRT674093)
- hsa-miR-485-5p (MIRT674094)
- hsa-miR-1273f (MIRT674095)
- hsa-miR-4708-5p (MIRT674096)
- hsa-miR-6088 (MIRT674097)
- hsa-miR-4770 (MIRT674098)
- hsa-miR-143-3p (MIRT674099)
- hsa-miR-383-3p (MIRT674100)
- hsa-miR-4478 (MIRT674101)
- hsa-miR-4419b (MIRT674102)
- hsa-miR-3929 (MIRT674103)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PLEKHA1
- Browse OriGene Inhibitory RNA Products For PLEKHA1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLEKHA1
Clone Products
- Applied Biological Materials (abm): Clones for PLEKHA1 - Select products 50% OFF >
- * PLEKHA1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG205433
- MR205433
- MR205433L3
- MR205433L4
- RC207285
- RC207285L3
- RC207285L4
- RC212312
- RC212312L3
- RC212312L4
- RC231168
- RC231168L3
- RC231168L4
- RG207285
- RG212312
- RG231168
- RR202490
- RR202490L3
- RR202490L4
- MR205433L3V
- MR205433L4V
- RC207285L3V
- RC207285L4V
- RC212312L3V
- RC212312L4V
- RC231168L3V
- RC231168L4V
- RR202490L3V
- RR202490L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PLEKHA1
- Addgene plasmids for PLEKHA1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PLEKHA1
Cell Line Products
-
Horizon Cell Lines for PLEKHA1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PLEKHA1 Gene
Localization for PLEKHA1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PLEKHA1 Gene
- Cytoplasm. Cell membrane. Peripheral membrane protein. Nucleus. Note=Locates to the plasma membrane after treatments that stimulate the production of PtdIns3,4P2. {ECO:0000269 PubMed:11802782}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 5 |
| cytosol | 5 |
| extracellular | 4 |
| cytoskeleton | 2 |
| endosome | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (4)
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IBA,IDA | 12101241 |
| GO:0005829 | cytosol | IDA | -- |
| GO:0005886 | plasma membrane | TAS | -- |
Pathways & Interactions for PLEKHA1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism |
.40
|
|
| 2 | PI Metabolism |
.63
|
|
| 3 | ICos-ICosL Pathway in T-Helper Cell |
ICos-ICosL Pathway in T-Helper Cell
.66
|
|
| 4 | IL-2 Pathway |
PI3K Signaling in B-Lymphocyte
.35
|
|
| 5 | Glycerophospholipid biosynthesis | ||
Pathways by source for PLEKHA1 Gene
1 BioSystems pathway for PLEKHA1 Gene
5 Reactome pathways for PLEKHA1 Gene
2 Qiagen pathways for PLEKHA1 Gene
- ICos-ICosL Pathway in T-Helper Cell
- PI3K Signaling in B-Lymphocyte
Interacting Proteins for PLEKHA1 Gene
Selected Interacting proteins:
Q9HB21-PKHA1_HUMAN
ENSP00000357986
for PLEKHA1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for PLEKHA1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001553 | luteinization | IEA | -- |
| GO:0006661 | phosphatidylinositol biosynthetic process | TAS | -- |
| GO:0007283 | spermatogenesis | IEA | -- |
| GO:0008209 | androgen metabolic process | IEA | -- |
| GO:0008210 | estrogen metabolic process | IEA | -- |
No data available for SIGNOR curated interactions for PLEKHA1 Gene
Drugs & Compounds for PLEKHA1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Citric acid | Approved, Vet_approved | Nutra | Activator, Agonist, Target | 1509 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for PLEKHA1 Gene
mRNA/cDNA for PLEKHA1 Gene
- 30 REFSEQ mRNAs :
- 18 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000368988 3872 nts (view in UCSC)
- ENST00000368989 3771 nts (view in UCSC)
- ENST00000368990 14010 nts (view in UCSC)
- ENST00000392799 3221 nts (view in UCSC)
- ENST00000433307 3704 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PLEKHA1 - Select products 50% OFF >
- * PLEKHA1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PLEKHA1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PLEKHA1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PLEKHA1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PLEKHA1
- Browse OriGene Inhibitory RNA Products For PLEKHA1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLEKHA1
Clone Products
- Applied Biological Materials (abm): Clones for PLEKHA1 - Select products 50% OFF >
- * PLEKHA1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG205433
- MR205433
- MR205433L3
- MR205433L4
- RC207285
- RC207285L3
- RC207285L4
- RC212312
- RC212312L3
- RC212312L4
- RC231168
- RC231168L3
- RC231168L4
- RG207285
- RG212312
- RG231168
- RR202490
- RR202490L3
- RR202490L4
- MR205433L3V
- MR205433L4V
- RC207285L3V
- RC207285L4V
- RC212312L3V
- RC212312L4V
- RC231168L3V
- RC231168L4V
- RR202490L3V
- RR202490L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PLEKHA1
- Addgene plasmids for PLEKHA1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PLEKHA1
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | · | 3c | · | 3d | · | 3e | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | · | 13c | ^ | 14a | · | 14b | ^ | 15a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
| SP14: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP17: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP18: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP19: |
| ExUns: | 15b | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | · | 18c | ^ | 19a | · | 19b | ^ | 20a | · | 20b | · | 20c | ^ | 21a | · | 21b | · | 21c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | |||||||||||||||||||||
| SP3: | - | - | - | - | - | - | |||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||||||
| SP13: | |||||||||||||||||||||||||||
| SP14: | |||||||||||||||||||||||||||
| SP15: | - | ||||||||||||||||||||||||||
| SP16: | - | - | - | - | - | ||||||||||||||||||||||
| SP17: | |||||||||||||||||||||||||||
| SP18: | - | - | - | - | |||||||||||||||||||||||
| SP19: | - |
Relevant External Links for PLEKHA1 Gene
- GeneLoc Exon Structure for
- PLEKHA1
Expression for PLEKHA1 Gene
This gene is overexpressed in Frontal cortex (21.3), Adrenal (12.6), and Pancreas (6.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PLEKHA1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLEKHA1
SOURCE GeneReport for Unigene cluster for PLEKHA1 Gene:
Hs.643512mRNA Expression by UniProt/SwissProt for PLEKHA1 Gene:
Q9HB21-PKHA1_HUMAN
Tissue specificity:
Highly expressed in skeletal muscle, thymus, pancreas, placenta and lung. Detected at low levels in brain, heart, peripheral blood leukocytes, testis, ovary, spinal cord, thyroid, kidney, liver, small intestine and colon.
Evidence on tissue expression from TISSUES for PLEKHA1 Gene
- Intestine(4.3)
- Nervous system(4.1)
- Kidney(2.6)
- Skin(2.5)
- Heart(2.2)
- Muscle(2.2)
- Blood(2.1)
Primer Products
-
OriGene qPCR primer pairs for PLEKHA1
-
OriGene qPCR primer pairs and template standards for PLEKHA1
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLEKHA1 Gene
Orthologs for PLEKHA1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PLEKHA1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PLEKHA1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Plekha1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Plekha1 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PLEKHA1 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PLEKHA1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | PLEKHA1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | PLEKHA1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PLEKHA1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | plekha1 30 |
|
||
| Str.3942 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | PLEKHA1 (2 of 2) 31 |
|
OneToMany | |
| plekha1 30 31 |
|
OneToMany | |||
| Dr.8510 30 |
|
||||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for PLEKHA1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for PLEKHA1 Gene
- ENSEMBL:
- Gene Tree for PLEKHA1 (if available)
- TreeFam:
- Gene Tree for PLEKHA1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PLEKHA1: view image
Paralogs for PLEKHA1 Gene
(1) SIMAP similar genes for PLEKHA1 Gene using alignment to 3 proteins:
- PKHA1_HUMAN
- Q5RGS4_HUMAN
- R4GMZ9_HUMAN
Pseudogenes.org Pseudogenes for PLEKHA1 Gene
Variants for PLEKHA1 Gene
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv987n100 | CNV | loss | 25217958 |
| nsv1042640 | CNV | loss | 25217958 |
| nsv1069520 | CNV | deletion | 25765185 |
| nsv1118188 | CNV | deletion | 24896259 |
| nsv552250 | CNV | loss | 21841781 |
| nsv7578 | CNV | deletion | 18451855 |
Residual Variation Intolerance Score:
67% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.15;
23.25% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PLEKHA1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- PLEKHA1
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEKHA1 Gene
Disorders for PLEKHA1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| macular degeneration, age-related, 1 |
|
|
| degeneration of macula and posterior pole |
|
|
| eye disease |
|
|
| neuropathy, congenital hypomyelinating, 1, autosomal recessive |
|
|
Search PLEKHA1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PLEKHA1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for PLEKHA1 Gene
Publications for PLEKHA1 Gene
- Identification of pleckstrin-homology-domain-containing proteins with novel phosphoinositide-binding specificities. (PMID: 11001876) Dowler S … Alessi DR (The Biochemical journal 2000) 2 3 4 23
- Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration. (PMID: 18164066) Deangelis MM … Kim IK (Ophthalmology 2008) 3 23 41
- A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. (PMID: 17884985) Kanda A … Swaroop A (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 23 41
- PLEKHA1-LOC387715-HTRA1 polymorphisms and exudative age-related macular degeneration in the French population. (PMID: 18079691) Leveziel N … Benlian P (Molecular vision 2007) 3 23 41
- Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. (PMID: 16174643) Rivera A … Weber BH (Human molecular genetics 2005) 3 23 41
ExternalLinks
Products for PLEKHA1 Gene
- Custom Antibody ServicesOriGene Antibodies for PLEKHA1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for PLEKHA1
- Search Origene for MassSpec and Protein Over-expression Lysates for PLEKHA1
- Origene Custom Protein Services for PLEKHA1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PLEKHA1
- Browse OriGene Inhibitory RNA Products For PLEKHA1
- OriGene qPCR primer pairs for PLEKHA1
- OriGene qPCR primer pairs and template standards for PLEKHA1
- OriGene CRISPR knockouts for PLEKHA1
- MG205433
- MR205433
- MR205433L3
- MR205433L4
- RC207285
- RC207285L3
- RC207285L4
- RC212312
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- RC212312L4
- RC231168
- RC231168L3
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- RG207285
- RG212312
- RG231168
- RR202490
- RR202490L3
- RR202490L4
- MR205433L3V
- MR205433L4V
- RC207285L3V
- RC207285L4V
- RC212312L3V
- RC212312L4V
- RC231168L3V
- RC231168L4V
- RR202490L3V
- RR202490L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For PLEKHA1
- Sino Biological Human cDNA Clone for PLEKHA1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for PLEKHA1
- Novus Biologicals proteins and lysates for PLEKHA1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam proteins for PLEKHA1
- Find your target
- Browse Primary Antibodies
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- Browse ELISA Kits
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- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
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- Taconic Biosciences Mouse Models for PLEKHA1
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for PLEKHA1 (AFLGC-PLEKHA1)
- VectorBuilder Custom and pre-made DNA vectors for PLEKHA1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for PLEKHA1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for PLEKHA1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for PLEKHA1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for PLEKHA1
- Addgene plasmids for PLEKHA1
- antibodies-online: Show 14 available PLEKHA1 Antibodies ranked by validation data
- Compare Top PLEKHA1 Antibodies
- antibodies-online: Search results for available PLEKHA1 related products ranked by validation data
- antibodies-online: Show 8 available PLEKHA1 Proteins ranked by validation data
- Compare Top PLEKHA1 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for PLEKHA1
- Search Santa Cruz Biotechnology (SCBT) for PLEKHA1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for PLEKHA1
- Horizon Cell Lines for PLEKHA1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PLEKHA1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PLEKHA1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for PLEKHA1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLEKHA1
- Boster Bio Antibodies for PLEKHA1
- Browse Boster Bio ELISA Kits
- Biorbyt antibodies for PLEKHA1
- Signalway Proteins for PLEKHA1
Sources for PLEKHA1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
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- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
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- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
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- (124) Horizon
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- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB