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Aliases for PLEKHB1 Gene

Aliases for PLEKHB1 Gene

  • Pleckstrin Homology Domain Containing, Family B (Evectins) Member 1 2 3
  • KPL1 3 4 6
  • PHR1 3 4 6
  • 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
  • Pleckstrin Homology Domain-Containing Family B Member 1 3
  • PH Domain Containing Protein In Retina 1 3
  • EVT1 4

External Ids for PLEKHB1 Gene

Previous Symbols for PLEKHB1 Gene

  • PHRET1

Summaries for PLEKHB1 Gene

GeneCards Summary for PLEKHB1 Gene

PLEKHB1 (Pleckstrin Homology Domain Containing, Family B (Evectins) Member 1) is a Protein Coding gene. GO annotations related to this gene include protein homodimerization activity and signal transducer activity. 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.

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

Genomics for PLEKHB1 Gene

Genomic Location for PLEKHB1 Gene

Start:
73,646,178 bp from pter
End:
73,662,819 bp from pter
Size:
16,642 bases
Orientation:
Plus strand

Genomic View for PLEKHB1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PLEKHB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHB1 Gene

Regulatory Elements for PLEKHB1 Gene

Proteins for PLEKHB1 Gene

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

    Protein Symbol:
    Q9UF11-PKHB1_HUMAN
    Recommended name:
    Pleckstrin homology domain-containing family B member 1
    Protein Accession:
    Q9UF11
    Secondary Accessions:
    • A8K0Q5
    • B2RBP1
    • B7Z716
    • Q9UBF5
    • Q9UI37
    • Q9UI44

    Protein attributes for PLEKHB1 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for PLEKHB1 Gene

Proteomics data for PLEKHB1 Gene at MOPED

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 for PLEKHB1 Gene

Gene Families for PLEKHB1 Gene

HGNC:
  • PLEKH :Pleckstrin homology (PH) domain containing

Protein Domains for PLEKHB1 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

PKHB1_HUMAN
Domain:
  • Contains 1 PH domain.:
    • Q9UF11
genes like me logo Genes that share domains with PLEKHB1: view

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.

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 24705354
GO:0008022 protein C-terminus binding IEA --
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with PLEKHB1: view

Phenotypes for PLEKHB1 Gene

MGI mutant phenotypes for PLEKHB1:
inferred from 1 alleles
GenomeRNAi human phenotypes for PLEKHB1:
genes like me logo Genes that share phenotypes with PLEKHB1: view

miRNA for PLEKHB1 Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for PLEKHB1 Gene COMPARTMENTS Subcellular localization image for PLEKHB1 gene
Compartment Confidence
cytosol 2
nucleus 2
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:0016021 integral component of membrane IDA 10585447
genes like me logo Genes that share ontologies with PLEKHB1: view

Pathways 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 organismal development IEA --
GO:0007602 phototransduction NAS 10585447
GO:0045595 regulation of cell differentiation IEA --
genes like me logo Genes that share ontologies with PLEKHB1: view

No data available for Pathways by source for PLEKHB1 Gene

Transcripts for PLEKHB1 Gene

Unigene Clusters for PLEKHB1 Gene

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

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
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for PLEKHB1 Gene

GeneLoc Exon Structure for
PLEKHB1
ECgene alternative splicing isoforms for
PLEKHB1

Expression for PLEKHB1 Gene

mRNA expression in normal human tissues for PLEKHB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (12.6), Brain - Substantia nigra (6.7), Brain - Amygdala (4.4), Brain - Putamen (basal ganglia) (4.1), Brain - Hippocampus (4.1), and Brain - Hypothalamus (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PLEKHB1 Gene

SOURCE GeneReport for Unigene cluster for PLEKHB1 Gene Hs.445489

mRNA Expression by UniProt/SwissProt for PLEKHB1 Gene

Q9UF11-PKHB1_HUMAN
Tissue specificity: Highly expressed in retina and brain. Levels are very low or not detectable in all other tissues tested.
genes like me logo Genes that share expressions with PLEKHB1: view

Orthologs for PLEKHB1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PLEKHB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLEKHB1 36
  • 99.04 (n)
  • 99.18 (a)
PLEKHB1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PLEKHB1 36
  • 92.71 (n)
  • 96.43 (a)
PLEKHB1 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PLEKHB1 36
  • 91.46 (n)
  • 95.87 (a)
PLEKHB1 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Plekhb1 36
  • 87.65 (n)
  • 93.83 (a)
Plekhb1 16
Plekhb1 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PLEKHB1 37
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 56 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Plekhb1 36
  • 88.64 (n)
  • 93.72 (a)
chicken
(Gallus gallus)
Aves PLEKHB1 36
  • 71.78 (n)
  • 64.55 (a)
PLEKHB1 37
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.14721 36
zebrafish
(Danio rerio)
Actinopterygii PLEKHB1 (1 of 2) 37
  • 46 (a)
OneToMany
PLEKHB1 (2 of 2) 37
  • 42 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7950 37
  • 31 (a)
OneToMany
Species with no ortholog for PLEKHB1:
  • 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

ENSEMBL:
Gene Tree for PLEKHB1 (if available)
TreeFam:
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 Sequence Context AA Info Type MAF
rs6590 -- 73,662,507(+) TCTTT(A/G)TAGCT utr-variant-3-prime
rs581888 -- 73,650,220(+) aaaGA(C/G)AGAGA intron-variant
rs591804 -- 73,652,165(+) TTAGC(A/G)GCCTC intron-variant
rs593056 -- 73,645,833(+) TTCCC(C/G)TCTTT upstream-variant-2KB
rs593927 -- 73,646,028(+) GCGGT(A/T)TGGGA upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv525173 CNV Loss 19592680
nsv521125 CNV Loss 19592680
nsv528592 CNV Loss 19592680

Relevant External Links for PLEKHB1 Gene

HapMap Linkage Disequilibrium report
PLEKHB1

Disorders for PLEKHB1 Gene

Relevant External Links for PLEKHB1

Genetic Association Database (GAD)
PLEKHB1
Human Genome Epidemiology (HuGE) Navigator
PLEKHB1
genes like me logo Genes that share disorders with PLEKHB1: view

No data available for UniProtKB/Swiss-Prot 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. … Valle D. (J. Biol. Chem. 1999) 2 3 4 23
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. 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 S.D. … Anand S. (Diabetes Care 2010) 3 49
  5. KPL1, which encodes a novel PH domain-containing protein, is induced during ciliated cell differentiation of rat tracheal epithelial cells. (PMID: 10923244) Andrews K.L. … Ostrowski L.E. (Exp. Lung Res. 2000) 3 4

Products for PLEKHB1 Gene

Sources for PLEKHB1 Gene

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