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

    Gene ID: 27276, updated on 12-May-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 C-terminus binding activity and protein homodimerization activity. Predicted to be involved in regulation of cell differentiation. Predicted to be located in Golgi membrane. Predicted to be integral component of 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, Apr 2022]
    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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    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
    • 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 regulates retinogeniculate targeting independent of activity and ephrin-A signalling. Culican SM, et al. Mol Cell Neurosci, 2009 Jul. PMID 19371781, Free PMC Article
    3. 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
    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 (28) 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
    acts_upstream_of_or_within multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
    		  
    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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