Human Gene DMTN (ENST00000265800.9_5) from GENCODE V47lift37
  Description: dematin actin binding protein, transcript variant 63 (from RefSeq NM_001387753.1)
Gencode Transcript: ENST00000265800.9_5
Gencode Gene: ENSG00000158856.19_13
Transcript (Including UTRs)
   Position: hg19 chr8:21,915,376-21,940,038 Size: 24,663 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg19 chr8:21,924,387-21,938,974 Size: 14,588 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:21,915,376-21,940,038)mRNA (may differ from genome)Protein (405 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsMalacards
MGIPubMedReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: DEMA_HUMAN
DESCRIPTION: RecName: Full=Dematin; AltName: Full=Erythrocyte membrane protein band 4.9;
FUNCTION: Actin-bundling protein. May function in mitogen- activated protein kinase pathway.
SUBUNIT: Exists in solution as a trimer of two short isoforms and one long isoform linked by disulfide bonds (Probable). Interacts with RASGRF2.
SUBCELLULAR LOCATION: Cytoplasm.
TISSUE SPECIFICITY: Heart, brain, lung, skeletal muscle, and kidney.
DOMAIN: Contains at least two actin-binding sites, one in the headpiece domain and one in the N-terminal portion.
DOMAIN: Consists of a large core fragment, the N-terminal portion, and a small headpiece, the C-terminal portion. The headpiece can bind but cannot bundle actin filaments.
PTM: Actin-bundling activity is abolished upon phosphorylation by cAMP-dependent protein kinase.
PTM: The N-terminus is blocked.
SIMILARITY: Belongs to the villin/gelsolin family.
SIMILARITY: Contains 1 HP (headpiece) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DMTN
Diseases sorted by gene-association score: hypotrichosis (5), hereditary spherocytosis (3), malaria (3), prostate cancer (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 138.86 RPKM in Brain - Cortex
Total median expression: 1443.41 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -119.00272-0.438 Picture PostScript Text
3' UTR -441.501064-0.415 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003128 - Villin_headpiece

Pfam Domains:
PF02209 - Villin headpiece domain
PF16182 - Putative adherens-junction anchoring region of AbLIM

SCOP Domains:
47050 - VHP, Villin headpiece domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1QZP - NMR MuPIT 1ZV6 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q08495
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0005102 receptor binding
GO:0005515 protein binding
GO:0030507 spectrin binding
GO:0043621 protein self-association

Biological Process:
GO:0007010 cytoskeleton organization
GO:0008360 regulation of cell shape
GO:0010591 regulation of lamellipodium assembly
GO:0010763 positive regulation of fibroblast migration
GO:0010801 negative regulation of peptidyl-threonine phosphorylation
GO:0010812 negative regulation of cell-substrate adhesion
GO:0030036 actin cytoskeleton organization
GO:0030194 positive regulation of blood coagulation
GO:0032956 regulation of actin cytoskeleton organization
GO:0033137 negative regulation of peptidyl-serine phosphorylation
GO:0035584 calcium-mediated signaling using intracellular calcium source
GO:0035585 calcium-mediated signaling using extracellular calcium source
GO:0048821 erythrocyte development
GO:0050732 negative regulation of peptidyl-tyrosine phosphorylation
GO:0051017 actin filament bundle assembly
GO:0051489 regulation of filopodium assembly
GO:0051693 actin filament capping
GO:0051895 negative regulation of focal adhesion assembly
GO:0055085 transmembrane transport
GO:0065003 macromolecular complex assembly
GO:0070560 protein secretion by platelet
GO:0071277 cellular response to calcium ion
GO:0071320 cellular response to cAMP
GO:0090303 positive regulation of wound healing
GO:0090315 negative regulation of protein targeting to membrane
GO:0090527 actin filament reorganization
GO:1900025 negative regulation of substrate adhesion-dependent cell spreading
GO:1900026 positive regulation of substrate adhesion-dependent cell spreading
GO:1901731 positive regulation of platelet aggregation
GO:2001046 positive regulation of integrin-mediated signaling pathway

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005884 actin filament
GO:0005886 plasma membrane
GO:0012505 endomembrane system
GO:0014069 postsynaptic density
GO:0014731 spectrin-associated cytoskeleton
GO:0015629 actin cytoskeleton
GO:0016020 membrane
GO:0030863 cortical cytoskeleton
GO:0031095 platelet dense tubular network membrane
GO:0031253 cell projection membrane
GO:0031410 cytoplasmic vesicle
GO:0042995 cell projection
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  BC052805 - Homo sapiens erythrocyte membrane protein band 4.9 (dematin), mRNA (cDNA clone MGC:59859 IMAGE:6269658), complete cds.
AK289650 - Homo sapiens cDNA FLJ78462 complete cds, highly similar to Homo sapiens erythrocyte membrane protein band 4.9 (dematin), mRNA.
AK091581 - Homo sapiens cDNA FLJ34262 fis, clone FEBRA2001814, highly similar to DEMATIN.
AK308807 - Homo sapiens cDNA, FLJ98848.
AK295452 - Homo sapiens cDNA FLJ59528 complete cds, highly similar to Dematin.
BC006318 - Homo sapiens erythrocyte membrane protein band 4.9 (dematin), mRNA (cDNA clone MGC:12740 IMAGE:4125804), complete cds.
BC017445 - Homo sapiens erythrocyte membrane protein band 4.9 (dematin), mRNA (cDNA clone MGC:15601 IMAGE:3162732), complete cds.
LF385009 - JP 2014500723-A/192512: Polycomb-Associated Non-Coding RNAs.
L19713 - Human dematin (HRD1) mRNA, complete cds.
U28389 - Human dematin 52 kDa subunit mRNA, complete cds.
AK055842 - Homo sapiens cDNA FLJ31280 fis, clone KIDNE2006687, highly similar to DEMATIN.
JD383118 - Sequence 364142 from Patent EP1572962.
JD458056 - Sequence 439080 from Patent EP1572962.
CU675345 - Synthetic construct Homo sapiens gateway clone IMAGE:100023378 5' read EPB49 mRNA.
KJ891113 - Synthetic construct Homo sapiens clone ccsbBroadEn_00507 EPB49 gene, encodes complete protein.
DQ892779 - Synthetic construct clone IMAGE:100005409; FLH189649.01X; RZPDo839H0674D erythrocyte membrane protein band 4.9 (dematin) (EPB49) gene, encodes complete protein.
DQ896026 - Synthetic construct Homo sapiens clone IMAGE:100010486; FLH189645.01L; RZPDo839H0664D erythrocyte membrane protein band 4.9 (dematin) (EPB49) gene, encodes complete protein.
EU832755 - Synthetic construct Homo sapiens clone HAIB:100067784; DKFZo004H1032 erythrocyte membrane protein band 4.9 (dematin) protein (EPB49) gene, encodes complete protein.
EU832675 - Synthetic construct Homo sapiens clone HAIB:100067704; DKFZo008H1031 erythrocyte membrane protein band 4.9 (dematin) protein (EPB49) gene, encodes complete protein.
BT007396 - Homo sapiens erythrocyte membrane protein band 4.9 (dematin) mRNA, complete cds.
KJ904460 - Synthetic construct Homo sapiens clone ccsbBroadEn_13854 EPB49-like gene, encodes complete protein.
LF335152 - JP 2014500723-A/142655: Polycomb-Associated Non-Coding RNAs.
AB209718 - Homo sapiens premature mRNA for Dematin variant.
LF335148 - JP 2014500723-A/142651: Polycomb-Associated Non-Coding RNAs.
LF335145 - JP 2014500723-A/142648: Polycomb-Associated Non-Coding RNAs.
LF335144 - JP 2014500723-A/142647: Polycomb-Associated Non-Coding RNAs.
LF335143 - JP 2014500723-A/142646: Polycomb-Associated Non-Coding RNAs.
LF335142 - JP 2014500723-A/142645: Polycomb-Associated Non-Coding RNAs.
LF335141 - JP 2014500723-A/142644: Polycomb-Associated Non-Coding RNAs.
JD062673 - Sequence 43697 from Patent EP1572962.
JD259884 - Sequence 240908 from Patent EP1572962.
JD210352 - Sequence 191376 from Patent EP1572962.
JD125446 - Sequence 106470 from Patent EP1572962.
JD211509 - Sequence 192533 from Patent EP1572962.
JD340477 - Sequence 321501 from Patent EP1572962.
JD205927 - Sequence 186951 from Patent EP1572962.
JD304588 - Sequence 285612 from Patent EP1572962.
JD253449 - Sequence 234473 from Patent EP1572962.
JD217039 - Sequence 198063 from Patent EP1572962.
JD365579 - Sequence 346603 from Patent EP1572962.
JD074088 - Sequence 55112 from Patent EP1572962.
JD548599 - Sequence 529623 from Patent EP1572962.
JD332821 - Sequence 313845 from Patent EP1572962.
JD106677 - Sequence 87701 from Patent EP1572962.
JD121606 - Sequence 102630 from Patent EP1572962.
JD110279 - Sequence 91303 from Patent EP1572962.
JD325177 - Sequence 306201 from Patent EP1572962.
JD255009 - Sequence 236033 from Patent EP1572962.
JD524029 - Sequence 505053 from Patent EP1572962.
JD078512 - Sequence 59536 from Patent EP1572962.
JD407934 - Sequence 388958 from Patent EP1572962.
JD401097 - Sequence 382121 from Patent EP1572962.
JD102719 - Sequence 83743 from Patent EP1572962.
JD121990 - Sequence 103014 from Patent EP1572962.
JD054678 - Sequence 35702 from Patent EP1572962.
JD157373 - Sequence 138397 from Patent EP1572962.
JD054614 - Sequence 35638 from Patent EP1572962.
JD554257 - Sequence 535281 from Patent EP1572962.
JD456799 - Sequence 437823 from Patent EP1572962.
MA620586 - JP 2018138019-A/192512: Polycomb-Associated Non-Coding RNAs.
MA570729 - JP 2018138019-A/142655: Polycomb-Associated Non-Coding RNAs.
MA570725 - JP 2018138019-A/142651: Polycomb-Associated Non-Coding RNAs.
MA570722 - JP 2018138019-A/142648: Polycomb-Associated Non-Coding RNAs.
MA570721 - JP 2018138019-A/142647: Polycomb-Associated Non-Coding RNAs.
MA570720 - JP 2018138019-A/142646: Polycomb-Associated Non-Coding RNAs.
MA570719 - JP 2018138019-A/142645: Polycomb-Associated Non-Coding RNAs.
MA570718 - JP 2018138019-A/142644: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q08495 (Reactome details) participates in the following event(s):

R-HSA-5226979 ADD1:ADD2 binds DMTN
R-HSA-5226999 ADD1:ADD3 binds DMTN
R-HSA-5223345 Miscellaneous transport and binding events
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: A8K0T5, B3KP70, B3KRH3, B4DI75, DEMA_HUMAN, DMT, E9PEJ0, ENST00000265800.1, ENST00000265800.2, ENST00000265800.3, ENST00000265800.4, ENST00000265800.5, ENST00000265800.6, ENST00000265800.7, ENST00000265800.8, EPB49, NM_001387753, Q08495, Q13215, Q9BRE3, uc317iee.1
UCSC ID: ENST00000265800.9_5
RefSeq Accession: NM_001114135.5
Protein: Q08495 (aka DEMA_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.