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PLEKHB1 pleckstrin homology domain containing B1 [ Homo sapiens (human) ]

Gene ID: 58473, updated on 2-Nov-2024

Summary

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Official Symbol
PLEKHB1provided by HGNC
Official Full Name
pleckstrin homology domain containing B1provided by HGNC
Primary source
HGNC:HGNC:19079
See related
Ensembl:ENSG00000021300 MIM:607651; AllianceGenome:HGNC:19079
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KPL1; PHR1; PHRET1
Summary
Predicted to enable protein homodimerization activity. Predicted to be involved in regulation of cell differentiation. Located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in brain (RPKM 91.0), thyroid (RPKM 7.0) and 2 other tissues See more
Orthologs
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Genomic context

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See PLEKHB1 in Genome Data Viewer
Location:
11q13.4
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (73646581..73662819)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (73575709..73591948)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (73357626..73373864)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 168 member A Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:73308491-73309219 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3745 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 38 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:73336706-73337222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:73337223-73337737 Neighboring gene MIA SH3 domain ER export factor 2 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:73357191-73358109 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3746 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5239 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr11:73371326-73372170 and GRCh37_chr11:73372171-73373013 Neighboring gene musashi RNA binding protein 1 pseudogene Neighboring gene RAB6A, member RAS oncogene family Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:73461590-73462090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:73462091-73462591 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:73471270-73471770 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3747 Neighboring gene uncharacterized LOC124902711 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3748

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. PHR1 is a vesicle-bound protein abundantly expressed in mature olfactory neurons. Tan B, et al. Laryngoscope, 2010 May. PMID 20301200
  2. In vitro interaction between coxsackievirus B3 VP1 protein and human pleckstrin homology domain retinal protein (PHR1). Zhou Y, et al. Virus Genes, 2015 Oct. PMID 26318175
  3. KPL1, which encodes a novel PH domain-containing protein, is induced during ciliated cell differentiation of rat tracheal epithelial cells. Andrews KL, et al. Exp Lung Res, 2000 Jun. PMID 10923244
  4. Wallerian degeneration: an emerging axon death pathway linking injury and disease. Conforti L, et al. Nat Rev Neurosci, 2014 Jun. PMID 24840802
  5. Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree. Lesch KP, et al. Mol Psychiatry, 2011 May. PMID 20308990

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The human PHR1, a PH domain-containing protein with low expression in the heart and high expression in the brain, interacts with coxsackievirus B3 VP1, a major structural protein of coxsackievirus B3.
    Title: In vitro interaction between coxsackievirus B3 VP1 protein and human pleckstrin homology domain retinal protein (PHR1).
  2. Rapid Wallerian degeneration requires the pro-degenerative molecules PHR1.
    Title: Wallerian degeneration: an emerging axon death pathway linking injury and disease.
  3. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
  5. Phr1 is widely and abundantly expressed throughout mature olfactory neurons and other primary sensory neurons, but its absence does not appear to affect olfactory morphology, regeneration, sensory function, or adaptation.
    Title: PHR1 is a vesicle-bound protein abundantly expressed in mature olfactory neurons.
  6. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in phototransduction NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
pleckstrin homology domain-containing family B member 1
Names
PH domain containing, retinal 1
PH domain-containing family B member 1
PH domain-containing protein in retina 1
evectin-1
pleckstrin homology domain containing, family B (evectins) member 1
pleckstrin homology domain retinal protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001130033.2 → NP_001123505.1  pleckstrin homology domain-containing family B member 1 isoform c

    See identical proteins and their annotated locations for NP_001123505.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon, compared to variant 1. It encodes isoform c, which is shorter than isoform a.
    Source sequence(s)
    AP000860, AP002993
    Consensus CDS
    CCDS44673.1
    UniProtKB/TrEMBL
    Q59EU5
    Related
    ENSP00000381505.4, ENST00000398492.8
    Conserved Domains (2) summary
    cd13265
    Location:20 → 127
    PH_evt; Evectin Pleckstrin homology (PH) domain
    pfam00169
    Location:22 → 126
    PH; PH domain

  2. NM_001130034.2 → NP_001123506.1  pleckstrin homology domain-containing family B member 1 isoform b

    See identical proteins and their annotated locations for NP_001123506.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) includes an alternate exon in the 5' CDS and 5' UTR resulting in use of a downstream start codon, compared to variant 1. It encodes isoform b, which has a shorter N-terminus compared to isoform a.
    Source sequence(s)
    AP000860, AP002993
    Consensus CDS
    CCDS44674.1
    UniProtKB/TrEMBL
    Q59EU5
    Related
    ENSP00000381507.4, ENST00000398494.8
    Conserved Domains (2) summary
    cd13265
    Location:1 → 108
    PH_evt; Evectin Pleckstrin homology (PH) domain
    pfam00169
    Location:3 → 107
    PH; PH domain

  3. NM_001130035.2 → NP_001123507.1  pleckstrin homology domain-containing family B member 1 isoform d

    See identical proteins and their annotated locations for NP_001123507.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an in-frame exon and includes an alternate exon in the 5' CDS and 5' UTR resulting in use of a downstream start codon, compared to variant 1. It encodes isoform d, which shorter than isoform a.
    Source sequence(s)
    AP000860, AP002993
    Consensus CDS
    CCDS44675.1
    UniProtKB/TrEMBL
    Q59EU5
    Related
    ENSP00000227214.6, ENST00000227214.10
    Conserved Domains (2) summary
    cd13265
    Location:1 → 108
    PH_evt; Evectin Pleckstrin homology (PH) domain
    pfam00169
    Location:3 → 107
    PH; PH domain

  4. NM_001130036.2 → NP_001123508.1  pleckstrin homology domain-containing family B member 1 isoform d

    See identical proteins and their annotated locations for NP_001123508.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an in-frame exon and includes an alternate exon in the 5' CDS and 5' UTR resulting in use of a downstream start codon, compared to variant 1. It encodes isoform d, which shorter than isoform a.
    Source sequence(s)
    AP000860, AP002993
    Consensus CDS
    CCDS44675.1
    UniProtKB/TrEMBL
    Q59EU5
    Related
    ENSP00000442616.1, ENST00000535129.5
    Conserved Domains (2) summary
    cd13265
    Location:1 → 108
    PH_evt; Evectin Pleckstrin homology (PH) domain
    pfam00169
    Location:3 → 107
    PH; PH domain

  5. NM_021200.3 → NP_067023.1  pleckstrin homology domain-containing family B member 1 isoform a

    See identical proteins and their annotated locations for NP_067023.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AP000860, AP002993
    Consensus CDS
    CCDS44672.1
    UniProtKB/Swiss-Prot
    A8K0Q5, B2RBP1, B7Z716, Q9UBF5, Q9UF11, Q9UI37, Q9UI44
    UniProtKB/TrEMBL
    Q59EU5
    Related
    ENSP00000346127.5, ENST00000354190.10
    Conserved Domains (2) summary
    cd13265
    Location:20 → 127
    PH_evt; Evectin Pleckstrin homology (PH) domain
    pfam00169
    Location:22 → 126
    PH; PH domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    73646581..73662819
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545193.3 → XP_011543495.1  pleckstrin homology domain-containing family B member 1 isoform X2

    See identical proteins and their annotated locations for XP_011543495.1

    UniProtKB/TrEMBL
    Q59EU5
    Conserved Domains (2) summary
    cd13265
    Location:1 → 108
    PH_evt; Evectin Pleckstrin homology (PH) domain
    pfam00169
    Location:3 → 107
    PH; PH domain

  2. XM_011545192.3 → XP_011543494.1  pleckstrin homology domain-containing family B member 1 isoform X1

    See identical proteins and their annotated locations for XP_011543494.1

    UniProtKB/TrEMBL
    Q59EU5
    Conserved Domains (2) summary
    cd13265
    Location:1 → 108
    PH_evt; Evectin Pleckstrin homology (PH) domain
    pfam00169
    Location:3 → 107
    PH; PH domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    73575709..73591948
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054369566.1 → XP_054225541.1  pleckstrin homology domain-containing family B member 1 isoform X2

  2. XM_054369565.1 → XP_054225540.1  pleckstrin homology domain-containing family B member 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UF11.1 GenPept UniProtKB/Swiss-Prot:Q9UF11

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