Human Gene PLEKHB1 (ENST00000398492.8) from GENCODE V44
  Description: Homo sapiens pleckstrin homology domain containing B1 (PLEKHB1), transcript variant 3, mRNA. (from RefSeq NM_001130033)
Gencode Transcript: ENST00000398492.8
Gencode Gene: ENSG00000021300.14
Transcript (Including UTRs)
   Position: hg38 chr11:73,646,178-73,662,819 Size: 16,642 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg38 chr11:73,646,609-73,661,602 Size: 14,994 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:73,646,178-73,662,819)mRNA (may differ from genome)Protein (208 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PKHB1_HUMAN
DESCRIPTION: RecName: Full=Pleckstrin homology domain-containing family B member 1; Short=PH domain-containing family B member 1; AltName: Full=Evectin-1; AltName: Full=PH domain-containing protein in retina 1; Short=PHRET1; AltName: Full=Pleckstrin homology domain retinal protein 1;
FUNCTION: Required for proper localization of retinogeniculate projections but not for eye-specific segregation (By similarity).
SUBUNIT: Homodimer. Interacts (via PH domain) with MYO1C. Interacts (via PH domain) with MYO7A (By similarity). Binds transducins.
SUBCELLULAR LOCATION: Membrane. Cytoplasm (By similarity). Note=Localizes to the apical juxta-nuclear Golgi region of the cytoplasm (By similarity). Membrane-associated. Highly expressed in the outer segments of photoreceptor cells, both in rods and cones.
TISSUE SPECIFICITY: Highly expressed in retina and brain. Levels are very low or not detectable in all other tissues tested.
SIMILARITY: Contains 1 PH domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PLEKHB1
Diseases sorted by gene-association score: wallerian degeneration (2), deafness, autosomal recessive 63 (2), amyotrophic lateral sclerosis 1 (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 729.89 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 3595.01 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -161.00431-0.374 Picture PostScript Text
3' UTR -384.501217-0.316 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology

ModBase Predicted Comparative 3D Structure on Q9UF11
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004871 signal transducer activity
GO:0005515 protein binding

Biological Process:
GO:0007275 multicellular organism development
GO:0007602 phototransduction
GO:0045595 regulation of cell differentiation

Cellular Component:
GO:0005737 cytoplasm
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AF101054 - Homo sapiens PHR1 isoform 2 mRNA, alternatively spliced, complete cds.
U89715 - Homo sapiens PHR1 isoform 1 mRNA, alternatively spliced, complete cds.
BC008075 - Homo sapiens pleckstrin homology domain containing, family B (evectins) member 1, mRNA (cDNA clone MGC:2933 IMAGE:3050369), complete cds.
AB209716 - Homo sapiens mRNA for pleckstrin homology domain containing, family B (evectins) member 1 variant protein.
AF093249 - Homo sapiens PHR1 isoform 4 (PHRET1) mRNA, alternatively spliced, complete cds.
AF100612 - Homo sapiens PHR1 isoform 3 (PHR1) mRNA, alternatively spliced, complete cds.
AF081583 - Homo sapiens KPL1 (KPL1) mRNA, complete cds.
AK054725 - Homo sapiens cDNA FLJ30163 fis, clone BRACE2000577, moderately similar to Pleckstrin homology domain-containing familyB member 1.
JD126452 - Sequence 107476 from Patent EP1572962.
JD536763 - Sequence 517787 from Patent EP1572962.
JD045229 - Sequence 26253 from Patent EP1572962.
JD537839 - Sequence 518863 from Patent EP1572962.
JD124345 - Sequence 105369 from Patent EP1572962.
JD183537 - Sequence 164561 from Patent EP1572962.
JD466333 - Sequence 447357 from Patent EP1572962.
JD470710 - Sequence 451734 from Patent EP1572962.
JD328414 - Sequence 309438 from Patent EP1572962.
JD519457 - Sequence 500481 from Patent EP1572962.
JD253315 - Sequence 234339 from Patent EP1572962.
JD132318 - Sequence 113342 from Patent EP1572962.
JD397375 - Sequence 378399 from Patent EP1572962.
JD415474 - Sequence 396498 from Patent EP1572962.
JD507981 - Sequence 489005 from Patent EP1572962.
AK314748 - Homo sapiens cDNA, FLJ95612, Homo sapiens pleckstrin homology domain containing, family B(evectins) member 1 (PLEKHB1), mRNA.
AK289620 - Homo sapiens cDNA FLJ75544 complete cds, highly similar to Homo sapiens pleckstrin homology domain containing, family B (evectins) member 1, mRNA.
AK301299 - Homo sapiens cDNA FLJ53624 complete cds, highly similar to Pleckstrin homology domain-containing family B member 1.
AK296033 - Homo sapiens cDNA FLJ52506 complete cds, highly similar to Pleckstrin homology domain-containing family B member 1.
AK289909 - Homo sapiens cDNA FLJ78545 complete cds, highly similar to Homo sapiens pleckstrin homology domain containing, family B (evectins) member 1, mRNA.
AK311158 - Homo sapiens cDNA, FLJ18200.
AK290109 - Homo sapiens cDNA FLJ78354 complete cds, highly similar to Homo sapiens pleckstrin homology domain containing, family B (evectins) member 1, mRNA.
JF432611 - Synthetic construct Homo sapiens clone IMAGE:100073848 pleckstrin homology domain containing, family B (evectins) member 1 (PLEKHB1) gene, encodes complete protein.
JD231756 - Sequence 212780 from Patent EP1572962.
JD184018 - Sequence 165042 from Patent EP1572962.
JD145602 - Sequence 126626 from Patent EP1572962.
JD167536 - Sequence 148560 from Patent EP1572962.
JD210743 - Sequence 191767 from Patent EP1572962.
JD519244 - Sequence 500268 from Patent EP1572962.
JD530846 - Sequence 511870 from Patent EP1572962.
JD218129 - Sequence 199153 from Patent EP1572962.
JD418613 - Sequence 399637 from Patent EP1572962.
JD046465 - Sequence 27489 from Patent EP1572962.
JD277391 - Sequence 258415 from Patent EP1572962.
JD551343 - Sequence 532367 from Patent EP1572962.
JD351331 - Sequence 332355 from Patent EP1572962.
JD530704 - Sequence 511728 from Patent EP1572962.
JD109379 - Sequence 90403 from Patent EP1572962.
JD124168 - Sequence 105192 from Patent EP1572962.
JD270995 - Sequence 252019 from Patent EP1572962.
JD487373 - Sequence 468397 from Patent EP1572962.
JD020994 - Sequence 2018 from Patent EP1572962.
JD028413 - Sequence 9437 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K0Q5, B2RBP1, B7Z716, ENST00000398492.1, ENST00000398492.2, ENST00000398492.3, ENST00000398492.4, ENST00000398492.5, ENST00000398492.6, ENST00000398492.7, EVT1, KPL1, NM_001130033, PHR1, PHRET1, PKHB1_HUMAN, Q9UBF5, Q9UF11, Q9UI37, Q9UI44, uc001oub.1, uc001oub.2, uc001oub.3
UCSC ID: ENST00000398492.8
RefSeq Accession: NM_001130033
Protein: Q9UF11 (aka PKHB1_HUMAN)
CCDS: CCDS44673.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.