EPB49

Protein-coding gene in the species Homo sapiens
DMTN
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

1QZP, 1ZV6

Identifiers
AliasesDMTN, DMT, EPB49, dematin actin binding protein
External IDsOMIM: 125305; MGI: 99670; HomoloGene: 1496; GeneCards: DMTN; OMA:DMTN - orthologs
Gene location (Human)
Chromosome 8 (human)
Chr.Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for DMTN
Genomic location for DMTN
Band8p21.3Start22,048,995 bp[1]
End22,082,527 bp[1]
Gene location (Mouse)
Chromosome 14 (mouse)
Chr.Chromosome 14 (mouse)[2]
Chromosome 14 (mouse)
Genomic location for DMTN
Genomic location for DMTN
Band14 D2|14 36.32 cMStart70,601,263 bp[2]
End70,636,048 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right frontal lobe

  • cingulate gyrus

  • anterior cingulate cortex

  • prefrontal cortex

  • Brodmann area 10

  • nucleus accumbens

  • amygdala

  • Brodmann area 9

  • caudate nucleus

  • right hemisphere of cerebellum
Top expressed in
  • primary visual cortex

  • superior frontal gyrus

  • dentate gyrus of hippocampal formation granule cell

  • fetal liver hematopoietic progenitor cell

  • entorhinal cortex

  • perirhinal cortex

  • primary motor cortex

  • prefrontal cortex

  • olfactory tubercle

  • CA3 field
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • spectrin binding
  • protein binding
  • actin binding
  • signaling receptor binding
  • protein self-association
  • actin filament binding
Cellular component
  • cytoplasm
  • cytosol
  • cell projection
  • membrane
  • cortical cytoskeleton
  • plasma membrane
  • platelet dense tubular network membrane
  • cell projection membrane
  • actin filament
  • actin cytoskeleton
  • spectrin-associated cytoskeleton
  • perinuclear region of cytoplasm
  • endomembrane system
  • cytoskeleton
  • postsynaptic density
  • cytoplasmic vesicle
Biological process
  • negative regulation of cell-substrate adhesion
  • regulation of lamellipodium assembly
  • cellular response to calcium ion
  • regulation of filopodium assembly
  • actin filament reorganization
  • regulation of actin cytoskeleton organization
  • negative regulation of peptidyl-threonine phosphorylation
  • positive regulation of wound healing
  • actin filament bundle assembly
  • positive regulation of substrate adhesion-dependent cell spreading
  • negative regulation of protein targeting to membrane
  • negative regulation of peptidyl-tyrosine phosphorylation
  • positive regulation of blood coagulation
  • calcium-mediated signaling using extracellular calcium source
  • cytoskeleton organization
  • actin filament capping
  • transmembrane transport
  • negative regulation of peptidyl-serine phosphorylation
  • positive regulation of integrin-mediated signaling pathway
  • protein secretion by platelet
  • negative regulation of substrate adhesion-dependent cell spreading
  • calcium-mediated signaling using intracellular calcium source
  • positive regulation of fibroblast migration
  • negative regulation of focal adhesion assembly
  • actin cytoskeleton organization
  • positive regulation of platelet aggregation
  • cellular response to cAMP
  • erythrocyte development
  • regulation of cell shape
  • protein-containing complex assembly
  • lamellipodium assembly
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

2039

13829

Ensembl

ENSG00000158856

ENSMUSG00000022099

UniProt

Q08495

Q9WV69

RefSeq (mRNA)
NM_001114135
NM_001114136
NM_001114137
NM_001114138
NM_001114139

NM_001302816
NM_001302817
NM_001978
NM_001323378
NM_001323380
NM_001323381
NM_001323382
NM_001323383
NM_001323384
NM_001323385
NM_001323387
NM_001323388
NM_001323389
NM_001323390
NM_001323391
NM_001323392
NM_001323393
NM_001323394
NM_001323395
NM_001323396
NM_001323397
NM_001323398
NM_001323399
NM_001323400
NM_001323401
NM_001323379
NM_001387723
NM_001387726
NM_001387727
NM_001387728
NM_001387730
NM_001387732
NM_001387734
NM_001387735
NM_001387736
NM_001387737
NM_001387742
NM_001387743
NM_001387744
NM_001387745
NM_001387750
NM_001387751
NM_001387752
NM_001387753
NM_001387754
NM_001387755
NM_001387756
NM_001387757

NM_001252662
NM_001252663
NM_001252664
NM_001252665
NM_001252666

NM_013514
NM_001360024
NM_001360025
NM_001360026
NM_001360027
NM_001360028
NM_001360029
NM_001360030

RefSeq (protein)
NP_001107607
NP_001107608
NP_001107609
NP_001107610
NP_001107611

NP_001289745
NP_001289746
NP_001310307
NP_001310308
NP_001310309
NP_001310310
NP_001310311
NP_001310312
NP_001310313
NP_001310314
NP_001310316
NP_001310317
NP_001310318
NP_001310319
NP_001310320
NP_001310321
NP_001310322
NP_001310323
NP_001310324
NP_001310325
NP_001310326
NP_001310327
NP_001310328
NP_001310329
NP_001310330
NP_001969

NP_001239591
NP_001239592
NP_001239593
NP_001239594
NP_001239595

NP_038542
NP_001346953
NP_001346954
NP_001346955
NP_001346956
NP_001346957
NP_001346958
NP_001346959

Location (UCSC)Chr 8: 22.05 – 22.08 MbChr 14: 70.6 – 70.64 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Dematin is a protein that in humans is encoded by the EPB49 gene.[5][6][7]


References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000158856 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022099 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Rana AP, Ruff P, Maalouf GJ, Speicher DW, Chishti AH (Aug 1993). "Cloning of human erythroid dematin reveals another member of the villin family". Proc Natl Acad Sci U S A. 90 (14): 6651–5. Bibcode:1993PNAS...90.6651R. doi:10.1073/pnas.90.14.6651. PMC 46990. PMID 8341682.
  6. ^ Khanna R, Chang SH, Andrabi S, Azam M, Kim A, Rivera A, Brugnara C, Low PS, Liu SC, Chishti AH (May 2002). "Headpiece domain of dematin is required for the stability of the erythrocyte membrane". Proc Natl Acad Sci U S A. 99 (10): 6637–42. Bibcode:2002PNAS...99.6637K. doi:10.1073/pnas.052155999. PMC 124455. PMID 12011427.
  7. ^ "Entrez Gene: EPB49 erythrocyte membrane protein band 4.9 (dematin)".

Further reading

  • Azim AC, Knoll JH, Beggs AH, Chishti AH (1995). "Isoform cloning, actin binding, and chromosomal localization of human erythroid dematin, a member of the villin superfamily". J. Biol. Chem. 270 (29): 17407–13. doi:10.1074/jbc.270.29.17407. PMID 7615546.
  • Azim AC, Marfatia SM, Korsgren C, et al. (1996). "Human erythrocyte dematin and protein 4.2 (pallidin) are ATP binding proteins". Biochemistry. 35 (9): 3001–6. doi:10.1021/bi951745y. PMID 8608138.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Millar JK, Christie S, Porteous DJ (2004). "Yeast two-hybrid screens implicate DISC1 in brain development and function". Biochem. Biophys. Res. Commun. 311 (4): 1019–25. doi:10.1016/j.bbrc.2003.10.101. PMID 14623284.
  • Frank BS, Vardar D, Chishti AH, McKnight CJ (2004). "The NMR structure of dematin headpiece reveals a dynamic loop that is conformationally altered upon phosphorylation at a distal site". J. Biol. Chem. 279 (9): 7909–16. doi:10.1074/jbc.M310524200. PMID 14660664.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Vermeulen W, Van Troys M, Bourry D, et al. (2006). "Identification of the PXW sequence as a structural gatekeeper of the headpiece C-terminal subdomain fold". J. Mol. Biol. 359 (5): 1277–92. doi:10.1016/j.jmb.2006.04.042. PMID 16697408.
  • v
  • t
  • e
  • 1qzp: NMR structure of the human dematin headpiece domain
    1qzp: NMR structure of the human dematin headpiece domain
  • 1zv6: NMR structure of the human dematin headpiece S74E mutant
    1zv6: NMR structure of the human dematin headpiece S74E mutant


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