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Aliases for PLEKHB1 Gene

Aliases for PLEKHB1 Gene

  • Pleckstrin Homology Domain Containing B1 2 3 5
  • Pleckstrin Homology Domain Containing, Family B (Evectins) Member 1 2 3
  • Pleckstrin Homology Domain Retinal Protein 1 3 4
  • PH Domain-Containing Protein In Retina 1 3 4
  • PH Domain-Containing Family B Member 1 3 4
  • PH Domain Containing, Retinal 1 2 3
  • Evectin-1 3 4
  • PHRET1 3 4
  • KPL1 3 4
  • PHR1 3 4
  • Pleckstrin Homology Domain-Containing Family B Member 1 3
  • EVT1 4

External Ids for PLEKHB1 Gene

Previous HGNC Symbols for PLEKHB1 Gene

  • PHRET1

Previous GeneCards Identifiers for PLEKHB1 Gene

  • GC11P074896
  • GC11P073579
  • GC11P073083
  • GC11P073022
  • GC11P073357
  • GC11P069652

Summaries for PLEKHB1 Gene

GeneCards Summary for PLEKHB1 Gene

PLEKHB1 (Pleckstrin Homology Domain Containing B1) is a Protein Coding gene. Diseases associated with PLEKHB1 include Wallerian Degeneration and Deafness, Autosomal Recessive 63. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein C-terminus binding. An important paralog of this gene is PLEKHB2.

UniProtKB/Swiss-Prot for PLEKHB1 Gene

  • Required for proper localization of retinogeniculate projections but not for eye-specific segregation.

Additional gene information for PLEKHB1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLEKHB1 Gene

Genomics for PLEKHB1 Gene

GeneHancer (GH) Regulatory Elements for PLEKHB1 Gene

Promoters and enhancers for PLEKHB1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I073645 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 565.5 +0.9 931 3.8 HDGF PKNOX1 ATF1 FOXA2 ARID4B SIN3A DMAP1 ZNF48 ETS1 ZNF143 PLEKHB1 MRPL48 PPME1 FAM168A P4HA3 GC11M073664
GH11I073872 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.1 +228.8 228776 5.9 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 COA4 PAAF1 MRPL48 POLD3 RNF169 PLEKHB1 FAM168A CCDC58P5
GH11I073757 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.2 +113.5 113526 4.6 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 ENSG00000256034 RAB6A MRPL48 POLD3 ENSG00000206913 ENSG00000255928 COA4 PAAF1 RNF169 PLEKHB1
GH11I073786 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 8.1 +142.2 142183 3.2 CLOCK FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 MRPL48 POLD3 ENSG00000206913 RNF169 ARPC3P4 RAB6A C2CD3 P4HA3 ENSG00000256034 ENSG00000254837
GH11I073660 Enhancer 1.3 Ensembl ENCODE dbSUPER 7.7 +15.0 15020 1.6 RB1 KLF17 SIN3A ZNF2 IRF4 ZNF48 RAD21 ZNF335 ELK1 ARID2 ENSG00000206913 POLD3 MRPL48 ENSG00000256448 RELT ARHGEF17 ENSG00000255928 COA4 PAAF1 PLEKHB1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PLEKHB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PLEKHB1 gene promoter:

Genomic Locations for PLEKHB1 Gene

Genomic Locations for PLEKHB1 Gene
16,642 bases
Plus strand

Genomic View for PLEKHB1 Gene

Genes around PLEKHB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLEKHB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLEKHB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHB1 Gene

Proteins for PLEKHB1 Gene

  • Protein details for PLEKHB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Pleckstrin homology domain-containing family B member 1
    Protein Accession:
    Secondary Accessions:
    • A8K0Q5
    • B2RBP1
    • B7Z716
    • Q9UBF5
    • Q9UI37
    • Q9UI44

    Protein attributes for PLEKHB1 Gene

    243 amino acids
    Molecular mass:
    27186 Da
    Quaternary structure:
    • Homodimer. Interacts (via PH domain) with MYO1C. Interacts (via PH domain) with MYO7A (By similarity). Binds transducins.

    Alternative splice isoforms for PLEKHB1 Gene


neXtProt entry for PLEKHB1 Gene

Post-translational modifications for PLEKHB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PLEKHB1 Gene

Domains & Families for PLEKHB1 Gene

Gene Families for PLEKHB1 Gene

Protein Domains for PLEKHB1 Gene


Suggested Antigen Peptide Sequences for PLEKHB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PLEKHB1: view

No data available for UniProtKB/Swiss-Prot for PLEKHB1 Gene

Function for PLEKHB1 Gene

Molecular function for PLEKHB1 Gene

UniProtKB/Swiss-Prot Function:
Required for proper localization of retinogeniculate projections but not for eye-specific segregation.

Phenotypes From GWAS Catalog for PLEKHB1 Gene

Gene Ontology (GO) - Molecular Function for PLEKHB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity TAS 10585447
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with PLEKHB1: view

Phenotypes for PLEKHB1 Gene

genes like me logo Genes that share phenotypes with PLEKHB1: view

Animal Models for PLEKHB1 Gene

MGI Knock Outs for PLEKHB1:

Animal Model Products

CRISPR Products

miRNA for PLEKHB1 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PLEKHB1 Gene

Localization for PLEKHB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLEKHB1 Gene

Membrane. Cytoplasm. 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. {ECO:0000250}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLEKHB1 gene
Compartment Confidence
nucleus 3
cytosol 2
plasma membrane 1
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PLEKHB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IDA 10585447
genes like me logo Genes that share ontologies with PLEKHB1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PLEKHB1 Gene

Pathways & Interactions for PLEKHB1 Gene

SuperPathways for PLEKHB1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PLEKHB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007602 phototransduction NAS 10585447
GO:0045595 regulation of cell differentiation IBA --
genes like me logo Genes that share ontologies with PLEKHB1: view

No data available for Pathways by source and SIGNOR curated interactions for PLEKHB1 Gene

Drugs & Compounds for PLEKHB1 Gene

No Compound Related Data Available

Transcripts for PLEKHB1 Gene

Unigene Clusters for PLEKHB1 Gene

Pleckstrin homology domain containing, family B (evectins) member 1:
Representative Sequences:

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHB1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c ·
SP1: - - - - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - - - - -
SP4: - - - - - - - -
SP5: - - - - - - -
SP6: - - - - -
SP7: - - - - - - - - - - -
SP8: - - - - - -
SP9: - - - - - - - - - - - - -
SP10: - - - - - - - - - - - - -
SP11: - - - - - - - - - -
SP12: - - - - - - - - -
SP13: - - -
SP14: - -
SP15: - -

ExUns: 13d · 13e · 13f · 13g · 13h · 13i

Relevant External Links for PLEKHB1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PLEKHB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PLEKHB1 Gene

mRNA differential expression in normal tissues according to GTEx for PLEKHB1 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x12.6), Brain - Substantia nigra (x6.7), Brain - Amygdala (x4.4), Brain - Putamen (basal ganglia) (x4.1), Brain - Hippocampus (x4.1), and Brain - Hypothalamus (x4.1).

Protein differential expression in normal tissues from HIPED for PLEKHB1 Gene

This gene is overexpressed in Urine (42.1), Spinal cord (13.5), and Frontal cortex (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PLEKHB1 Gene

Protein tissue co-expression partners for PLEKHB1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PLEKHB1 Gene:


SOURCE GeneReport for Unigene cluster for PLEKHB1 Gene:


mRNA Expression by UniProt/SwissProt for PLEKHB1 Gene:

Tissue specificity: Highly expressed in retina and brain. Levels are very low or not detectable in all other tissues tested.

Evidence on tissue expression from TISSUES for PLEKHB1 Gene

  • Nervous system(5)
  • Eye(4.8)
  • Lung(4.4)
  • Skin(4.4)
  • Stomach(4.2)
  • Kidney(3.6)
genes like me logo Genes that share expression patterns with PLEKHB1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PLEKHB1 Gene

Orthologs for PLEKHB1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PLEKHB1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PLEKHB1 33 34
  • 99.04 (n)
(Bos Taurus)
Mammalia PLEKHB1 33 34
  • 92.71 (n)
(Canis familiaris)
Mammalia PLEKHB1 33 34
  • 91.46 (n)
(Rattus norvegicus)
Mammalia Plekhb1 33
  • 88.64 (n)
(Mus musculus)
Mammalia Plekhb1 33 16 34
  • 87.65 (n)
(Monodelphis domestica)
Mammalia PLEKHB1 34
  • 61 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 56 (a)
(Gallus gallus)
Aves PLEKHB1 33 34
  • 71.78 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.14721 33
(Danio rerio)
Actinopterygii PLEKHB1 (1 of 2) 34
  • 46 (a)
PLEKHB1 (2 of 2) 34
  • 42 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7950 34
  • 31 (a)
Species where no ortholog for PLEKHB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • lizard (Anolis carolinensis)
  • 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 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 PLEKHB1 Gene

Gene Tree for PLEKHB1 (if available)
Gene Tree for PLEKHB1 (if available)

Paralogs for PLEKHB1 Gene

Paralogs for PLEKHB1 Gene

genes like me logo Genes that share paralogs with PLEKHB1: view

Variants for PLEKHB1 Gene

Sequence variations from dbSNP and Humsavar for PLEKHB1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000070921 -- 73,662,308(+) A/G 3_prime_UTR_variant
rs1000458325 -- 73,655,800(+) C/G intron_variant
rs1001073779 -- 73,660,868(+) G/A intron_variant
rs1001125254 -- 73,654,250(+) G/A intron_variant
rs1001331057 -- 73,646,697(+) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PLEKHB1 Gene

Variant ID Type Subtype PubMed ID
nsv1045149 CNV gain 25217958
nsv521125 CNV loss 19592680
nsv525173 CNV loss 19592680
nsv528592 CNV loss 19592680

Variation tolerance for PLEKHB1 Gene

Residual Variation Intolerance Score: 75.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.39; 27.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLEKHB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEKHB1 Gene

Disorders for PLEKHB1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PLEKHB1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
wallerian degeneration
  • wallerian degeneration of the pyramidal tract
deafness, autosomal recessive 63
  • dfnb63
amyotrophic lateral sclerosis 1
  • als1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PLEKHB1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PLEKHB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLEKHB1 Gene

Publications for PLEKHB1 Gene

  1. PHR1 encodes an abundant, pleckstrin homology domain-containing integral membrane protein in the photoreceptor outer segments. (PMID: 10585447) Xu S … McInnes RR (The Journal of biological chemistry 1999) 2 3 4 22 58
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. KPL1, which encodes a novel PH domain-containing protein, is induced during ciliated cell differentiation of rat tracheal epithelial cells. (PMID: 10923244) Andrews KL … Ostrowski LE (Experimental lung research 2000) 3 4 58

Products for PLEKHB1 Gene

Sources for PLEKHB1 Gene

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