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

Gene ID: 13829, updated on 11-Apr-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
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Genomic context

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)
  • Targeted (2)  1 citation
  • Endonuclease-mediated (2) 

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 calcium-mediated signaling using intracellular calcium source IMP
Inferred from Mutant Phenotype
more info
PubMed 
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