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    Frmd4b FERM domain containing 4B [ Mus musculus (house mouse) ]

    Gene ID: 232288, updated on 9-May-2024

    Summary

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    Official Symbol
    Frmd4bprovided by MGI
    Official Full Name
    FERM domain containing 4Bprovided by MGI
    Primary source
    MGI:MGI:2141794
    See related
    Ensembl:ENSMUSG00000030064 AllianceGenome:MGI:2141794
    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
    GRSP1; GOBLIN; 6030440G05Rik
    Summary
    Acts upstream of or within establishment of epithelial cell polarity. Located in several cellular components, including adherens junction; bicellular tight junction; and ruffle. Is expressed in several structures, including gallbladder; genitourinary system; gut; nervous system; and vascular system. Orthologous to human FRMD4B (FERM domain containing 4B). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in CNS E14 (RPKM 6.5), CNS E11.5 (RPKM 6.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    6 D3; 6 44.93 cM
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (97263828..97594618, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (97286867..97617657, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_16780 Neighboring gene ADP-ribosylation factor-like 6 interacting protein 5 Neighboring gene leiomodin 3 (fetal) Neighboring gene predicted gene, 32191 Neighboring gene STARR-seq mESC enhancer starr_16782 Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:97271123-97271316 Neighboring gene STARR-seq mESC enhancer starr_16786 Neighboring gene STARR-seq mESC enhancer starr_16788 Neighboring gene STARR-seq mESC enhancer starr_16791 Neighboring gene uncharacterized protein C3orf38 homolog Neighboring gene STARR-seq mESC enhancer starr_16793 Neighboring gene STARR-seq mESC enhancer starr_16794 Neighboring gene STARR-seq mESC enhancer starr_16795 Neighboring gene predicted gene, 46970 Neighboring gene predicted gene, 25852 Neighboring gene predicted gene, 46969 Neighboring gene predicted gene, 23510 Neighboring gene STARR-seq mESC enhancer starr_16799 Neighboring gene predicted gene, 53199 Neighboring gene STARR-seq mESC enhancer starr_16800 Neighboring gene predicted gene, 32247 Neighboring gene predicted gene, 53319 Neighboring gene predicted gene, 32481

    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. An FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency. Kong Y, et al. Hum Mol Genet, 2018 Oct 1. PMID 29947801, Free PMC Article
    2. Signaling complexes of the FERM domain-containing protein GRSP1 bound to ARF exchange factor GRP1. Klarlund JK, et al. J Biol Chem, 2001 Oct 26. PMID 11445584
    3. FRMD4A regulates epithelial polarity by connecting Arf6 activation with the PAR complex. Ikenouchi J, et al. Proc Natl Acad Sci U S A, 2010 Jan 12. PMID 20080746, Free PMC Article
    4. Identification of 14-3-3epsilon substrates from embryonic murine brain. Ballif BA, et al. J Proteome Res, 2006 Sep. PMID 16944949
    5. Transcriptome analysis of mouse stem cells and early embryos. Sharov AA, et al. PLoS Biol, 2003 Dec. PMID 14691545, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. his study reveals a critical role of FRMD4B in maintaining ELM integrity and in rescuing morphological abnormalities of the outer nuclear layer in photoreceptor dysplasia.
      Title: An FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1)  1 citation
    • Endonuclease-mediated (2) 
    • Targeted (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1013

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within establishment of epithelial cell polarity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in adherens junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in anchoring junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in bicellular tight junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in bicellular tight junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in ruffle IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    FERM domain-containing protein 4B
    Names
    GRP1 binding protein GRSP1
    golgi-associated band 4.1-like protein

    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_001346637.1 → NP_001333566.1  FERM domain-containing protein 4B isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC155725, AF327856, BC052390
      Consensus CDS
      CCDS85102.1
      UniProtKB/Swiss-Prot
      Q3V1S1, Q920B0, Q920B1, Q9ESP9
      Related
      ENSMUSP00000032146.8, ENSMUST00000032146.14

    2. NM_001346639.1 → NP_001333568.1  FERM domain-containing protein 4B isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon and represents the use of an alternate promoter, resulting in different 5' UTR and 5' coding region, compared to variant 1. It encodes isoform 2, which has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC155725, AF327856, BC052390
      Consensus CDS
      CCDS85101.1
      UniProtKB/TrEMBL
      Q6ZQ04
      Related
      ENSMUSP00000108986.2, ENSMUST00000113359.8

    3. NM_145148.2 → NP_660130.2  FERM domain-containing protein 4B isoform 3

      See identical proteins and their annotated locations for NP_660130.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (3) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AF327857, AK132280, BC039783, CN693106
      Consensus CDS
      CCDS39577.1
      UniProtKB/Swiss-Prot
      Q920B0
      Related
      ENSMUSP00000108982.3, ENSMUST00000113355.9
      Conserved Domains (5) summary
      smart00295
      Location:21 → 206
      B41; Band 4.1 homologues
      cd13191
      Location:202 → 312
      FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
      cd17200
      Location:3 → 91
      FERM_F1_FRMD4B; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 4B (FRMD4B)
      pfam11819
      Location:341 → 474
      DUF3338; Domain of unknown function (DUF3338)
      pfam16006
      Location:479 → 628
      NUSAP; Nucleolar and spindle-associated protein

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      97263828..97594618 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030255350.1 → XP_030111210.1  FERM domain-containing protein 4B isoform X1

      Conserved Domains (5) summary
      smart00295
      Location:21 → 206
      B41; Band 4.1 homologues
      cd13191
      Location:202 → 312
      FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
      cd17200
      Location:3 → 91
      FERM_F1_FRMD4B; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 4B (FRMD4B)
      pfam11819
      Location:341 → 474
      DUF3338; Domain of unknown function (DUF3338)
      pfam16006
      Location:479 → 628
      NUSAP; Nucleolar and spindle-associated protein

    2. XM_017321537.2 → XP_017177026.1  FERM domain-containing protein 4B isoform X1

      UniProtKB/Swiss-Prot
      Q920B0
      Conserved Domains (5) summary
      smart00295
      Location:21 → 206
      B41; Band 4.1 homologues
      cd13191
      Location:202 → 312
      FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
      cd17200
      Location:3 → 91
      FERM_F1_FRMD4B; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 4B (FRMD4B)
      pfam11819
      Location:341 → 474
      DUF3338; Domain of unknown function (DUF3338)
      pfam16006
      Location:479 → 628
      NUSAP; Nucleolar and spindle-associated protein

    3. XM_017321538.1 → XP_017177027.1  FERM domain-containing protein 4B isoform X2

      UniProtKB/TrEMBL
      Q6PE61
      Conserved Domains (3) summary
      cd13191
      Location:11 → 121
      FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
      pfam11819
      Location:150 → 283
      DUF3338; Domain of unknown function (DUF3338)
      pfam16006
      Location:288 → 437
      NUSAP; Nucleolar and spindle-associated protein

    4. XM_017321539.2 → XP_017177028.1  FERM domain-containing protein 4B isoform X3

      UniProtKB/TrEMBL
      Q6PE61, Q8C0E8
      Conserved Domains (2) summary
      pfam11819
      Location:47 → 180
      DUF3338; Domain of unknown function (DUF3338)
      cl17171
      Location:1 → 18
      PH-like; Pleckstrin homology-like domain

    5. XM_006506006.1 → XP_006506069.1  FERM domain-containing protein 4B isoform X3

      See identical proteins and their annotated locations for XP_006506069.1

      UniProtKB/TrEMBL
      Q6PE61, Q8C0E8
      Related
      ENSMUST00000143698.8
      Conserved Domains (2) summary
      pfam11819
      Location:47 → 180
      DUF3338; Domain of unknown function (DUF3338)
      cl17171
      Location:1 → 18
      PH-like; Pleckstrin homology-like domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q920B0.2 GenPept UniProtKB/Swiss-Prot:Q920B0

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