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    Dmtn dematin actin binding protein [ Mus musculus (house mouse) ]

    Gene ID: 13829, updated on 9-May-2024

    Summary

    Official Symbol
    Dmtnprovided by MGI
    Official Full Name
    dematin actin binding proteinprovided by MGI
    Primary source
    MGI:MGI:99670
    See related
    Ensembl:ENSMUSG00000022099 AllianceGenome:MGI:99670
    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
    Epb49; Epb4.9; dematin
    Summary
    Enables protein self-association. Involved in several processes, including calcium-mediated signaling; negative regulation of protein phosphorylation; and regulation of cell-substrate adhesion. Located in several cellular components, including cortical cytoskeleton; perinuclear region of cytoplasm; and postsynaptic density. Is expressed in central nervous system; dorsal root ganglion; liver lobe; and sensory organ. Orthologous to human DMTN (dematin actin binding protein). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in cortex adult (RPKM 39.5), liver E14.5 (RPKM 37.0) and 16 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Dmtn in Genome Data Viewer
    Location:
    14 D2; 14 36.32 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (70839624..70873488, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (70602184..70636048, complement)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E8570 Neighboring gene nudix hydrolase 18 Neighboring gene FHF complex subunit HOOK interacting protein 2B Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:70999253-70999362 Neighboring gene STARR-seq mESC enhancer starr_37085 Neighboring gene predicted gene, 38605 Neighboring gene fibroblast growth factor 17 Neighboring gene predicted gene, 52133 Neighboring gene nucleophosmin/nucleoplasmin 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables actin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables signaling receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables spectrin binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in actin filament bundle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in actin filament bundle assembly ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within actin filament capping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to cAMP ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to calcium ion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in erythrocyte development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lamellipodium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of cell-substrate adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of focal adhesion assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of peptidyl-serine phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of peptidyl-threonine phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of peptidyl-tyrosine phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of protein targeting to membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of substrate adhesion-dependent cell spreading IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of blood coagulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of fibroblast migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of wound healing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein-containing complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein-containing complex assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of actin cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of cell shape IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cell shape IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cell shape ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of filopodium assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of lamellipodium assembly ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    is_active_in actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in actin filament ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell projection membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cortical cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasmic vesicle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in platelet dense tubular network membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in postsynaptic density IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in spectrin-associated cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in synapse EXP
    Inferred from Experiment
    more info
    PubMed 
    is_active_in synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    dematin
    Names
    erythrocyte membrane protein band 4.9
    erythrocyte protein band 4.9

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001252662.1NP_001239591.1  dematin isoform 1

      See identical proteins and their annotated locations for NP_001239591.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1, 7, 8 and 9 encode the same isoform (1).
      Source sequence(s)
      AK162866, AK165204, BY601680, BY789340
      Consensus CDS
      CCDS88708.1
      UniProtKB/Swiss-Prot
      F8WIF9, Q3TYC5, Q8JZV5, Q9WV69, Q9WVM2
      UniProtKB/TrEMBL
      Q3UEW2
      Related
      ENSMUSP00000022694.11, ENSMUST00000022694.17
      Conserved Domains (2) summary
      smart00153
      Location:370405
      VHP; Villin headpiece domain
      pfam16182
      Location:8369
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
    2. NM_001252663.1NP_001239592.1  dematin isoform 2

      See identical proteins and their annotated locations for NP_001239592.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an in-frame coding exon in the 3' region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1. Variants 2, 3 and 10 encode the same isoform 2.
      Source sequence(s)
      AI413696, AK165204, AK165294, BY601680, BY789340
      Consensus CDS
      CCDS27259.1
      UniProtKB/TrEMBL
      Q3UEW2
      Related
      ENSMUSP00000106612.3, ENSMUST00000110984.4
      Conserved Domains (2) summary
      smart00153
      Location:348383
      VHP; Villin headpiece domain
      pfam16182
      Location:24347
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
    3. NM_001252664.1NP_001239593.1  dematin isoform 3

      See identical proteins and their annotated locations for NP_001239593.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks an in-frame coding exon in the 5' region, compared to variant 1. The resulting isoform (3) lacks an internal segment, compared to isoform 1. Variants 4, 11 and 12 encode the same isoform (3).
      Source sequence(s)
      AI413696, AK158744, AK165204, BY282941, BY601680
      Consensus CDS
      CCDS88707.1
      UniProtKB/TrEMBL
      Q3UEW2
      Related
      ENSMUSP00000154373.2, ENSMUST00000228295.2
      Conserved Domains (2) summary
      smart00153
      Location:345380
      VHP; Villin headpiece domain
      pfam16182
      Location:7344
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
    4. NM_001252665.1NP_001239594.1  dematin isoform 4

      See identical proteins and their annotated locations for NP_001239594.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and lacks an in-frame coding exon in the 5' region and an in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (4) lacks two internal segments, compared to isoform 1. Variants 5, 6 and 13 encode the same isoform 4.
      Source sequence(s)
      AI413696, AK162866, AK165204, BY270342, BY601680
      Consensus CDS
      CCDS88706.1
      UniProtKB/TrEMBL
      Q3UEW2
      Related
      ENSMUSP00000154045.2, ENSMUST00000228824.2
      Conserved Domains (2) summary
      smart00153
      Location:323358
      VHP; Villin headpiece domain
      pfam16182
      Location:3322
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
    5. NM_001252666.1NP_001239595.1  dematin isoform 4

      See identical proteins and their annotated locations for NP_001239595.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and lacks an in-frame coding exon in the 5' region and an in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (4) lacks two internal segments, compared to isoform 1. Variants 5, 6 and 13 encode the same isoform 4.
      Source sequence(s)
      AI413696, AK165204, BC037021, BY000876, BY601680
      Consensus CDS
      CCDS88706.1
      UniProtKB/TrEMBL
      Q3UEW2
      Related
      ENSMUSP00000153945.2, ENSMUST00000228001.2
      Conserved Domains (2) summary
      smart00153
      Location:323358
      VHP; Villin headpiece domain
      pfam16182
      Location:3322
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
    6. NM_001360024.1NP_001346953.1  dematin isoform 1

      Status: VALIDATED

      Source sequence(s)
      AI413696, AK162866, AK165204, BY270342, BY601680, CJ070069
      Consensus CDS
      CCDS88708.1
      UniProtKB/Swiss-Prot
      F8WIF9, Q3TYC5, Q8JZV5, Q9WV69, Q9WVM2
      UniProtKB/TrEMBL
      Q3UEW2
      Conserved Domains (2) summary
      smart00153
      Location:370405
      VHP; Villin headpiece domain
      pfam16182
      Location:8369
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
    7. NM_001360025.1NP_001346954.1  dematin isoform 1

      Status: VALIDATED

      Source sequence(s)
      AI413696, AK162866, AK165204, BY259253, BY282941, BY601680, CJ070069
      Consensus CDS
      CCDS88708.1
      UniProtKB/Swiss-Prot
      F8WIF9, Q3TYC5, Q8JZV5, Q9WV69, Q9WVM2
      UniProtKB/TrEMBL
      Q3UEW2
      Conserved Domains (2) summary
      smart00153
      Location:370405
      VHP; Villin headpiece domain
      pfam16182
      Location:8369
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
    8. NM_001360026.1NP_001346955.1  dematin isoform 1

      Status: VALIDATED

      Source sequence(s)
      AI413696, AK162866, AK165204, BB873101, BY270342, BY278973, BY601680, CJ070069
      Consensus CDS
      CCDS88708.1
      UniProtKB/Swiss-Prot
      F8WIF9, Q3TYC5, Q8JZV5, Q9WV69, Q9WVM2
      UniProtKB/TrEMBL
      Q3UEW2
      Conserved Domains (2) summary
      smart00153
      Location:370405
      VHP; Villin headpiece domain
      pfam16182
      Location:8369
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
    9. NM_001360027.1NP_001346956.1  dematin isoform 2

      Status: VALIDATED

      Source sequence(s)
      AA510592, AI413696, AK162866, AK165204, BY270342, BY601680, CB527108, CJ070069
      Consensus CDS
      CCDS27259.1
      UniProtKB/TrEMBL
      Q3UEW2
      Conserved Domains (2) summary
      smart00153
      Location:348383
      VHP; Villin headpiece domain
      pfam16182
      Location:24347
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
    10. NM_001360028.1NP_001346957.1  dematin isoform 3

      Status: VALIDATED

      Source sequence(s)
      AI413696, AK158744, AK165204, BY270342, BY601680, CX243464
      Consensus CDS
      CCDS88707.1
      UniProtKB/TrEMBL
      Q3UEW2
      Conserved Domains (2) summary
      smart00153
      Location:345380
      VHP; Villin headpiece domain
      pfam16182
      Location:7344
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
    11. NM_001360029.1NP_001346958.1  dematin isoform 4

      Status: VALIDATED

      Source sequence(s)
      AI413696, AK162866, AK165204, BE946350, BQ555736, BY601680, BY789340
      Consensus CDS
      CCDS88706.1
      UniProtKB/TrEMBL
      Q3UEW2
      Conserved Domains (2) summary
      smart00153
      Location:323358
      VHP; Villin headpiece domain
      pfam16182
      Location:3322
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
    12. NM_001360030.1NP_001346959.1  dematin isoform 3

      Status: VALIDATED

      Source sequence(s)
      AI413696, AK158744, AK165204, BY270342, BY601680, CX243464
      Consensus CDS
      CCDS88707.1
      UniProtKB/TrEMBL
      Q3UEW2
      Conserved Domains (2) summary
      smart00153
      Location:345380
      VHP; Villin headpiece domain
      pfam16182
      Location:7344
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
    13. NM_013514.4NP_038542.1  dematin isoform 2

      See identical proteins and their annotated locations for NP_038542.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an in-frame coding exon in the 3' region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1. Variants 2, 3 and 10 encode the same isoform 2.
      Source sequence(s)
      AC154563
      Consensus CDS
      CCDS27259.1
      UniProtKB/TrEMBL
      Q3UEW2
      Related
      ENSMUSP00000153828.2, ENSMUST00000228009.2
      Conserved Domains (2) summary
      smart00153
      Location:348383
      VHP; Villin headpiece domain
      pfam16182
      Location:24347
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    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_000080.7 Reference GRCm39 C57BL/6J

      Range
      70839624..70873488 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036158453.1XP_036014346.1  dematin isoform X5

      UniProtKB/TrEMBL
      Q3UEW2
      Conserved Domains (2) summary
      smart00153
      Location:345380
      VHP; Villin headpiece domain
      pfam16182
      Location:7344
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
    2. XM_036158454.1XP_036014347.1  dematin isoform X5

      UniProtKB/TrEMBL
      Q3UEW2
      Conserved Domains (2) summary
      smart00153
      Location:345380
      VHP; Villin headpiece domain
      pfam16182
      Location:7344
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
    3. XM_036158451.1XP_036014344.1  dematin isoform X4

      UniProtKB/TrEMBL
      Q3UEW2
      Conserved Domains (2) summary
      smart00153
      Location:364399
      VHP; Villin headpiece domain
      pfam16182
      Location:7363
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
    4. XM_036158446.1XP_036014339.1  dematin isoform X2

      UniProtKB/Swiss-Prot
      F8WIF9, Q3TYC5, Q8JZV5, Q9WV69, Q9WVM2
      UniProtKB/TrEMBL
      Q3UEW2
      Conserved Domains (2) summary
      smart00153
      Location:370405
      VHP; Villin headpiece domain
      pfam16182
      Location:8369
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
    5. XM_036158445.1XP_036014338.1  dematin isoform X1

      UniProtKB/TrEMBL
      Q3UEW2
      Conserved Domains (2) summary
      smart00153
      Location:389424
      VHP; Villin headpiece domain
      pfam16182
      Location:8388
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
    6. XM_036158448.1XP_036014341.1  dematin isoform X4

      UniProtKB/TrEMBL
      Q3UEW2
      Conserved Domains (2) summary
      smart00153
      Location:364399
      VHP; Villin headpiece domain
      pfam16182
      Location:7363
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
    7. XM_036158442.1XP_036014335.1  dematin isoform X1

      UniProtKB/TrEMBL
      Q3UEW2
      Conserved Domains (2) summary
      smart00153
      Location:389424
      VHP; Villin headpiece domain
      pfam16182
      Location:8388
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
    8. XM_036158449.1XP_036014342.1  dematin isoform X4

      UniProtKB/TrEMBL
      Q3UEW2
      Conserved Domains (2) summary
      smart00153
      Location:364399
      VHP; Villin headpiece domain
      pfam16182
      Location:7363
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
    9. XM_036158443.1XP_036014336.1  dematin isoform X1

      UniProtKB/TrEMBL
      Q3UEW2
      Conserved Domains (2) summary
      smart00153
      Location:389424
      VHP; Villin headpiece domain
      pfam16182
      Location:8388
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
    10. XM_036158452.1XP_036014345.1  dematin isoform X5

      UniProtKB/TrEMBL
      Q3UEW2
      Conserved Domains (2) summary
      smart00153
      Location:345380
      VHP; Villin headpiece domain
      pfam16182
      Location:7344
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
    11. XM_036158447.1XP_036014340.1  dematin isoform X3

      UniProtKB/TrEMBL
      Q3UEW2
      Conserved Domains (2) summary
      smart00153
      Location:367402
      VHP; Villin headpiece domain
      pfam16182
      Location:8366
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
    12. XM_036158441.1XP_036014334.1  dematin isoform X1

      UniProtKB/TrEMBL
      Q3UEW2
      Conserved Domains (2) summary
      smart00153
      Location:389424
      VHP; Villin headpiece domain
      pfam16182
      Location:8388
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
    13. XM_036158450.1XP_036014343.1  dematin isoform X4

      UniProtKB/TrEMBL
      Q3UEW2
      Conserved Domains (2) summary
      smart00153
      Location:364399
      VHP; Villin headpiece domain
      pfam16182
      Location:7363
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
    14. XM_036158444.1XP_036014337.1  dematin isoform X1

      UniProtKB/TrEMBL
      Q3UEW2
      Conserved Domains (2) summary
      smart00153
      Location:389424
      VHP; Villin headpiece domain
      pfam16182
      Location:8388
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM