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Plekhb1 pleckstrin homology domain containing, family B (evectins) member 1 [ Mus musculus (house mouse) ]

Gene ID: 27276, updated on 2-Nov-2024

Summary

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Official Symbol
Plekhb1provided by MGI
Official Full Name
pleckstrin homology domain containing, family B (evectins) member 1provided by MGI
Primary source
MGI:MGI:1351469
See related
Ensembl:ENSMUSG00000030701 AllianceGenome:MGI:1351469
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
PHR1; evt-1; Phret1
Summary
Enables protein homodimerization activity. Predicted to be involved in regulation of cell differentiation. Predicted to be located in Golgi membrane. Predicted to be active in membrane. Is expressed in central nervous system; sensory organ; and skeleton. Orthologous to human PLEKHB1 (pleckstrin homology domain containing B1). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in cerebellum adult (RPKM 133.7), cortex adult (RPKM 82.4) and 6 other tissues See more
Orthologs
human all
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Genomic context

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See Plekhb1 in Genome Data Viewer
Location:
7 E2; 7 54.36 cM
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (100291922..100311601, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (100643896..100662394, complement)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L48 Neighboring gene STARR-positive B cell enhancer ABC_E9294 Neighboring gene STARR-positive B cell enhancer ABC_E6573 Neighboring gene cytochrome c oxidase assembly protein 20B Neighboring gene STARR-positive B cell enhancer ABC_E1738 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:107756073-107756182 Neighboring gene RAB6A, member RAS oncogene family Neighboring gene predicted gene, 53385 Neighboring gene predicted gene, 35082 Neighboring gene STARR-seq mESC enhancer starr_19675 Neighboring gene STARR-seq mESC enhancer starr_19676 Neighboring gene family with sequence similarity 168, member A Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Identification of potential mediators of retinotopic mapping: a comparative proteomic analysis of optic nerve from WT and Phr1 retinal knockout mice. Lee AR, et al. J Proteome Res, 2012 Nov 2. PMID 22985349, Free PMC Article
  2. PHR1, a PH domain-containing protein expressed in primary sensory neurons. Xu S, et al. Mol Cell Biol, 2004 Oct. PMID 15456885, Free PMC Article
  3. Phr1 regulates retinogeniculate targeting independent of activity and ephrin-A signalling. Culican SM, et al. Mol Cell Neurosci, 2009 Jul. PMID 19371781, Free PMC Article
  4. 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
  5. Motor neuron translatome reveals deregulation of SYNGR4 and PLEKHB1 in mutant TDP-43 amyotrophic lateral sclerosis models. Marques RF, et al. Hum Mol Genet, 2020 Sep 29. PMID 32686835, Free PMC Article

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Motor neuron translatome reveals deregulation of SYNGR4 and PLEKHB1 in mutant TDP-43 amyotrophic lateral sclerosis models.
    Title: Motor neuron translatome reveals deregulation of SYNGR4 and PLEKHB1 in mutant TDP-43 amyotrophic lateral sclerosis models.
  2. increased levels of PHR1 target proteins may be instructive for retinotopic mapping of retinofugal projections
    Title: Identification of potential mediators of retinotopic mapping: a comparative proteomic analysis of optic nerve from WT and Phr1 retinal knockout mice.
  3. a key presynaptic regulator of retinogeniculate layer placement independent of activity, segregation, or ephrin-A signaling
    Title: Phr1 regulates retinogeniculate targeting independent of activity and ephrin-A signalling.
  4. The PHR1 is expressed in the vestibular and cochlear sensory cells, its direct interactions with the myosin 1c and VIIa tails are likely to play a role in anchoring the actin cytoskeleton to the plasma membrane of these cells.
    Title: PHR1, an integral membrane protein of the inner ear sensory cells, directly interacts with myosin 1c and myosin VIIa.
  5. Results describe the expression of specific Phr1 splice forms in olfactory receptor neurons and vestibular and cochlear hair cells as well as in photoreceptors, and show that mice lacking PHR1 do not have overt sensory deficits.
    Title: PHR1, a PH domain-containing protein expressed in primary sensory neurons.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Targeted (1)  1 citation

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 MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in regulation of cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in Golgi membrane ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
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 ISO
Inferred from Sequence Orthology
more info
  
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in photoreceptor outer segment TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
pleckstrin homology domain-containing family B member 1
Names
PH domain-containing family B member 1
PH domain-containing protein in retina 1
evectin-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_001163182.1 → NP_001156654.1  pleckstrin homology domain-containing family B member 1 isoform b

    See identical proteins and their annotated locations for NP_001156654.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC124531, BC024756, CD773826
    Consensus CDS
    CCDS52326.1
    UniProtKB/TrEMBL
    D3YZT7
    Related
    ENSMUSP00000102662.3, ENSMUST00000107047.10
    Conserved Domains (2) summary
    cd13265
    Location:20 → 127
    PH_evt; Evectin Pleckstrin homology (PH) domain
    pfam00169
    Location:22 → 126
    PH; PH domain

  2. NM_001163183.1 → NP_001156655.1  pleckstrin homology domain-containing family B member 1 isoform c

    See identical proteins and their annotated locations for NP_001156655.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 6 both encode isoform c.
    Source sequence(s)
    BC024756, BY284567, CD773826, CX201870
    Consensus CDS
    CCDS52325.1
    UniProtKB/TrEMBL
    D3YZT7
    Related
    ENSMUSP00000111991.3, ENSMUST00000116287.9
    Conserved Domains (1) summary
    cd13265
    Location:1 → 108
    PH_evt; Evectin Pleckstrin homology (PH) domain

  3. NM_001163184.1 → NP_001156656.1  pleckstrin homology domain-containing family B member 1 isoform d

    See identical proteins and their annotated locations for NP_001156656.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (d) is shorter at the N-terminus and lacks an internal segment compared to isoform a. Variants 4, 5, and 7 all encode isoform d.
    Source sequence(s)
    AK005102, BY284567, CD773826
    Consensus CDS
    CCDS52324.1
    UniProtKB/TrEMBL
    Q3TP62
    Related
    ENSMUSP00000102659.4, ENSMUST00000107044.10
    Conserved Domains (1) summary
    cd13265
    Location:1 → 108
    PH_evt; Evectin Pleckstrin homology (PH) domain

  4. NM_001163185.1 → NP_001156657.1  pleckstrin homology domain-containing family B member 1 isoform d

    See identical proteins and their annotated locations for NP_001156657.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (d) is shorter at the N-terminus and lacks an internal segment compared to isoform a. Variants 4, 5, and 7 all encode isoform d.
    Source sequence(s)
    AK005102, BY284567, CD773826
    Consensus CDS
    CCDS52324.1
    UniProtKB/TrEMBL
    Q3TP62
    Conserved Domains (1) summary
    cd13265
    Location:1 → 108
    PH_evt; Evectin Pleckstrin homology (PH) domain

  5. NM_001163186.1 → NP_001156658.1  pleckstrin homology domain-containing family B member 1 isoform c

    See identical proteins and their annotated locations for NP_001156658.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 6 both encode isoform c.
    Source sequence(s)
    BC024756, BY255927, CD773826
    Consensus CDS
    CCDS52325.1
    UniProtKB/TrEMBL
    D3YZT7
    Related
    ENSMUSP00000102660.2, ENSMUST00000107045.9
    Conserved Domains (1) summary
    cd13265
    Location:1 → 108
    PH_evt; Evectin Pleckstrin homology (PH) domain

  6. NM_001163187.1 → NP_001156659.1  pleckstrin homology domain-containing family B member 1 isoform d

    See identical proteins and their annotated locations for NP_001156659.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (d) is shorter at the N-terminus and lacks an internal segment compared to isoform a. Variants 4, 5, and 7 all encode isoform d.
    Source sequence(s)
    BC024756, BY255927, CD773826
    Consensus CDS
    CCDS52324.1
    UniProtKB/TrEMBL
    Q3TP62
    Related
    ENSMUSP00000102661.2, ENSMUST00000107046.8
    Conserved Domains (1) summary
    cd13265
    Location:1 → 108
    PH_evt; Evectin Pleckstrin homology (PH) domain

  7. NM_001291336.1 → NP_001278265.1  pleckstrin homology domain-containing family B member 1 isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR and coding sequence and lacks two alternate exons compared to variant 1, that causes a frameshift. The resulting isoform (e) is shorter at the N-terminus and has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AK005102, BY284567, CD776763
    Consensus CDS
    CCDS80756.1
    UniProtKB/TrEMBL
    D3YV71
    Related
    ENSMUSP00000102658.2, ENSMUST00000107043.8
    Conserved Domains (1) summary
    cd13265
    Location:1 → 97
    PH_evt; Evectin Pleckstrin homology (PH) domain

  8. NM_013746.3 → NP_038774.1  pleckstrin homology domain-containing family B member 1 isoform a

    See identical proteins and their annotated locations for NP_038774.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC124531, BC024756, CD773826
    Consensus CDS
    CCDS21504.1
    UniProtKB/Swiss-Prot
    Q9QYB3, Q9QYB4, Q9QYD2, Q9QYD3, Q9QYE9
    UniProtKB/TrEMBL
    D3YZT7
    Related
    ENSMUSP00000078175.7, ENSMUST00000079176.14
    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_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    100291922..100311601 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036153147.1 → XP_036009040.1  pleckstrin homology domain-containing family B member 1 isoform X2

    UniProtKB/TrEMBL
    Q3TP62
    Conserved Domains (1) summary
    cd13265
    Location:1 → 108
    PH_evt; Evectin Pleckstrin homology (PH) domain

  2. XM_036153149.1 → XP_036009042.1  pleckstrin homology domain-containing family B member 1 isoform X3

    UniProtKB/TrEMBL
    D3YV71
    Conserved Domains (1) summary
    cd13265
    Location:1 → 97
    PH_evt; Evectin Pleckstrin homology (PH) domain

  3. XM_006507906.2 → XP_006507969.1  pleckstrin homology domain-containing family B member 1 isoform X1

    See identical proteins and their annotated locations for XP_006507969.1

    UniProtKB/TrEMBL
    D3YZT7
    Conserved Domains (1) summary
    cd13265
    Location:1 → 108
    PH_evt; Evectin Pleckstrin homology (PH) domain

  4. XM_036153148.1 → XP_036009041.1  pleckstrin homology domain-containing family B member 1 isoform X3

    UniProtKB/TrEMBL
    D3YV71
    Conserved Domains (1) summary
    cd13265
    Location:1 → 97
    PH_evt; Evectin Pleckstrin homology (PH) domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9QYE9.1 GenPept UniProtKB/Swiss-Prot:Q9QYE9

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