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DMTN dematin actin binding protein [ Homo sapiens (human) ]

Gene ID: 2039, updated on 8-Dec-2018

Summary

Official Symbol
DMTNprovided by HGNC
Official Full Name
dematin actin binding proteinprovided by HGNC
Primary source
HGNC:HGNC:3382
See related
Ensembl:ENSG00000158856 MIM:125305
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DMT; EPB49
Summary
The protein encoded by this gene is an actin binding and bundling protein that plays a structural role in erythrocytes, by stabilizing and attaching the spectrin/actin cytoskeleton to the erythrocyte membrane in a phosphorylation-dependent manner. This protein contains a core domain in the N-terminus, and a headpiece domain in the C-terminus that binds F-actin. When purified from erythrocytes, this protein exists as a trimer composed of two 48 kDa polypeptides and a 52 kDa polypeptide. The different subunits arise from alternative splicing in the 3' coding region, where the headpiece domain is located. Disruption of this gene has been correlated with the autosomal dominant Marie Unna hereditary hypotrichosis disease, while loss of heterozygosity of this gene is thought to play a role in prostate cancer progression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014]
Expression
Broad expression in brain (RPKM 41.4), bone marrow (RPKM 23.9) and 18 other tissues See more
Orthologs

Genomic context

See DMTN in Genome Data Viewer
Location:
8p21.3
Exon count:
21
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (22048955..22082527)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (21906660..21940036)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene nucleophosmin/nucleoplasmin 2 Neighboring gene VISTA enhancer hs782 Neighboring gene fibroblast growth factor 17 Neighboring gene VISTA enhancer hs781 Neighboring gene family with sequence similarity 160 member B2 Neighboring gene nudix hydrolase 18

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ78462, FLJ98848

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IDA
Inferred from Direct Assay
more info
PubMed 
actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein self-association IEA
Inferred from Electronic Annotation
more info
 
signaling receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
spectrin binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
actin cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
 
actin filament bundle assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin filament bundle assembly TAS
Traceable Author Statement
more info
PubMed 
actin filament capping IEA
Inferred from Electronic Annotation
more info
 
actin filament reorganization ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium-mediated signaling using extracellular calcium source ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT calcium-mediated signaling using extracellular calcium source ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium-mediated signaling using intracellular calcium source ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to cAMP IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to calcium ion ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoskeleton organization TAS
Traceable Author Statement
more info
PubMed 
erythrocyte development ISS
Inferred from Sequence or Structural Similarity
more info
 
lamellipodium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of cell-substrate adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of focal adhesion assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of peptidyl-serine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of peptidyl-threonine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of peptidyl-tyrosine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of protein targeting to membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of substrate adhesion-dependent cell spreading ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of blood coagulation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of fibroblast migration ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of integrin-mediated signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of platelet aggregation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of substrate adhesion-dependent cell spreading ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of wound healing ISS
Inferred from Sequence or Structural Similarity
more info
 
protein secretion by platelet ISS
Inferred from Sequence or Structural Similarity
more info
 
protein-containing complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of actin cytoskeleton organization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell shape IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of filopodium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of lamellipodium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
actin filament IDA
Inferred from Direct Assay
more info
PubMed 
cell projection membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
cortical cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endomembrane system IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
platelet dense tubular network membrane IDA
Inferred from Direct Assay
more info
PubMed 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
spectrin-associated cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001114135.4NP_001107607.1  dematin isoform 1

    See identical proteins and their annotated locations for NP_001107607.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR, compared to variant 1. Variants 1-3 and 9-13 all encode the same isoform (1, also known as the 52 kDa subunit, PMID:7615546).
    Source sequence(s)
    BC006318, BC052805, BF448882, BI222385, DA131656, DA267327
    Consensus CDS
    CCDS6020.1
    UniProtKB/Swiss-Prot
    Q08495
    Related
    ENSP00000265800.5, ENST00000265800.9
    Conserved Domains (2) summary
    smart00153
    Location:370405
    VHP; Villin headpiece domain
    pfam16182
    Location:10369
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  2. NM_001114136.2NP_001107608.1  dematin isoform 1

    See identical proteins and their annotated locations for NP_001107608.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-3 and 9-13 all encode the same isoform (1, also known as the 52 kDa subunit, PMID:7615546).
    Source sequence(s)
    AK289650, BC052805, BF448882, BI222385, DA521027
    Consensus CDS
    CCDS6020.1
    UniProtKB/Swiss-Prot
    Q08495
    Related
    ENSP00000416111.1, ENST00000432128.5
    Conserved Domains (2) summary
    smart00153
    Location:370405
    VHP; Villin headpiece domain
    pfam16182
    Location:10369
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  3. NM_001114137.3NP_001107609.1  dematin isoform 2

    See identical proteins and their annotated locations for NP_001107609.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate exon in the 5' UTR and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. Variants 4, 5, 7, 14, 15 and 16 encode the same isoform (2, also known as the 48 kDa subunit, PMID:7615546), which is shorter than isoform 1.
    Source sequence(s)
    AK055842, BC052805, BF448882, BI222385, DA267327, DA634148
    Consensus CDS
    CCDS47820.1
    UniProtKB/Swiss-Prot
    Q08495
    Related
    ENSP00000370879.3, ENST00000381470.7
    Conserved Domains (2) summary
    smart00153
    Location:348383
    VHP; Villin headpiece domain
    pfam16182
    Location:10347
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  4. NM_001114138.2NP_001107610.1  dematin isoform 2

    See identical proteins and their annotated locations for NP_001107610.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate splice site 5' UTR and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. Variants 4, 5, 7, 14, 15 and 16 encode the same isoform (2, also known as the 48 kDa subunit, PMID:7615546), which is shorter than isoform 1.
    Source sequence(s)
    AK055842, BC052805, BF448882, BI222385, DA261872
    Consensus CDS
    CCDS47820.1
    UniProtKB/Swiss-Prot
    Q08495
    Related
    ENSP00000401291.1, ENST00000415253.5
    Conserved Domains (2) summary
    smart00153
    Location:348383
    VHP; Villin headpiece domain
    pfam16182
    Location:10347
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  5. NM_001114139.3NP_001107611.1  dematin isoform 3

    See identical proteins and their annotated locations for NP_001107611.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains an alternate exon in the 5' UTR and lacks alternate in-frame exons in the 5' and 3' coding regions, compared to variant 1. Variants 6 and 17 encode the same isoform (3), which is shorter than isoform 1.
    Source sequence(s)
    AK091581, BC052805, BF448882, BI222385, DA267327, DA521027
    Consensus CDS
    CCDS47821.1
    UniProtKB/Swiss-Prot
    Q08495
    Related
    ENSP00000397904.2, ENST00000443491.6
    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_001302816.2NP_001289745.1  dematin isoform 2

    See identical proteins and their annotated locations for NP_001289745.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. Variants 4, 5 and 7 encode the same isoform (2, also known as the 48 kDa subunit, PMID:7615546), which is shorter than isoform 1.
    Source sequence(s)
    BC006318, BC052805, BF448882, BI222385, DA170493, DA261872, DA267327, L19713
    Consensus CDS
    CCDS47820.1
    UniProtKB/Swiss-Prot
    Q08495
    Related
    ENSP00000429377.1, ENST00000519907.5
    Conserved Domains (2) summary
    smart00153
    Location:348383
    VHP; Villin headpiece domain
    pfam16182
    Location:10347
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  7. NM_001302817.2NP_001289746.1  dematin isoform 4

    See identical proteins and their annotated locations for NP_001289746.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks two alternate in-frame exons in the 5' coding region, compared to variant 1. Variants 8 and 18 encode the same isoform (4), which is shorter than isoform 1.
    Source sequence(s)
    AK295452, BC052805, BF448882, BI222385, DA267327, DA521027
    Consensus CDS
    CCDS78311.1
    UniProtKB/Swiss-Prot
    Q08495
    Related
    ENSP00000430618.1, ENST00000517600.5
    Conserved Domains (2) summary
    smart00153
    Location:330365
    VHP; Villin headpiece domain
    pfam16182
    Location:3329
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  8. NM_001323378.1NP_001310307.1  dematin isoform 1

    Status: REVIEWED

    Source sequence(s)
    BC006318, BC052805, BF448882, BI222385, DA170493, DA267327, DA521027
    Consensus CDS
    CCDS6020.1
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:370405
    VHP; Villin headpiece domain
    pfam16182
    Location:10369
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  9. NM_001323379.1NP_001310308.1  dematin isoform 1

    Status: REVIEWED

    Source sequence(s)
    AK055842, AK289650, BC052805, BF448882, BI222385, DA261872
    Consensus CDS
    CCDS6020.1
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:370405
    VHP; Villin headpiece domain
    pfam16182
    Location:10369
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  10. NM_001323380.1NP_001310309.1  dematin isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC091171, AK055842, AK289650, BC052805, BF448882, BI222385, BM547218
    Consensus CDS
    CCDS6020.1
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:370405
    VHP; Villin headpiece domain
    pfam16182
    Location:10369
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  11. NM_001323381.1NP_001310310.1  dematin isoform 1

    Status: REVIEWED

    Source sequence(s)
    BC006318, BC052805, BF448882, BI222385, DA141491, DA170493, DA267327, DA383880
    Consensus CDS
    CCDS6020.1
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:370405
    VHP; Villin headpiece domain
    pfam16182
    Location:10369
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  12. NM_001323382.1NP_001310311.1  dematin isoform 1

    Status: REVIEWED

    Source sequence(s)
    AK289650, BC052805, BF448882, BI222385, BI547589, HY024046
    Consensus CDS
    CCDS6020.1
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:370405
    VHP; Villin headpiece domain
    pfam16182
    Location:10369
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  13. NM_001323383.1NP_001310312.1  dematin isoform 2

    Status: REVIEWED

    Source sequence(s)
    AK055842, BC052805, BF448882, BI222385, DA521027
    Consensus CDS
    CCDS47820.1
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:348383
    VHP; Villin headpiece domain
    pfam16182
    Location:10347
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  14. NM_001323384.1NP_001310313.1  dematin isoform 2

    Status: REVIEWED

    Source sequence(s)
    AK055842, BC052805, BF448882, BI222385, DA267327, DA521027
    Consensus CDS
    CCDS47820.1
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:348383
    VHP; Villin headpiece domain
    pfam16182
    Location:10347
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  15. NM_001323385.1NP_001310314.1  dematin isoform 2

    Status: REVIEWED

    Source sequence(s)
    AK055842, AK295452, BC052805, BF448882, BI222385, DA141491, DA267327, DA383880
    Consensus CDS
    CCDS47820.1
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:348383
    VHP; Villin headpiece domain
    pfam16182
    Location:10347
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  16. NM_001323387.1NP_001310316.1  dematin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC091171, AK091581, BC052805, BF448882, BI222385, BM547218, DA267327
    Consensus CDS
    CCDS47821.1
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:323358
    VHP; Villin headpiece domain
    pfam16182
    Location:3322
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  17. NM_001323388.1NP_001310317.1  dematin isoform 4

    Status: REVIEWED

    Source sequence(s)
    AK289650, AK295452, BC052805, BF448882, BI222385, DA521027
    Consensus CDS
    CCDS78311.1
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:330365
    VHP; Villin headpiece domain
    pfam16182
    Location:3329
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  18. NM_001323389.1NP_001310318.1  dematin isoform 5

    Status: REVIEWED

    Source sequence(s)
    BC006318, BC052805, BF448882, BI222385, DA170493, DA267327, DA521027
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:355390
    VHP; Villin headpiece domain
    pfam16182
    Location:10354
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  19. NM_001323390.1NP_001310319.1  dematin isoform 5

    Status: REVIEWED

    Source sequence(s)
    AK289650, BC006318, BC052805, BF448882, BI222385, DA521027
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:355390
    VHP; Villin headpiece domain
    pfam16182
    Location:10354
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  20. NM_001323391.1NP_001310320.1  dematin isoform 6

    Status: REVIEWED

    Source sequence(s)
    BC006318, BC052805, BF448882, BI222385, DA131656, DA521027
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:345380
    VHP; Villin headpiece domain
    pfam16182
    Location:3344
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  21. NM_001323392.1NP_001310321.1  dematin isoform 6

    Status: REVIEWED

    Source sequence(s)
    BC006318, BC052805, BF448882, BI222385, DA131656, DA170493, DA261872
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:345380
    VHP; Villin headpiece domain
    pfam16182
    Location:3344
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  22. NM_001323393.1NP_001310322.1  dematin isoform 6

    Status: REVIEWED

    Source sequence(s)
    AK289650, BC006318, BC052805, BF448882, BI222385, DA131656, DA521027
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:345380
    VHP; Villin headpiece domain
    pfam16182
    Location:3344
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  23. NM_001323394.1NP_001310323.1  dematin isoform 6

    Status: REVIEWED

    Source sequence(s)
    AK055842, AK289650, BC006318, BC052805, BF448882, BI222385, DA131656, DA261872
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:345380
    VHP; Villin headpiece domain
    pfam16182
    Location:3344
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  24. NM_001323395.1NP_001310324.1  dematin isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC091171, AK289650, BC006318, BC052805, BF448882, BI222385, BM547218, DA131656
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:345380
    VHP; Villin headpiece domain
    pfam16182
    Location:3344
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  25. NM_001323396.1NP_001310325.1  dematin isoform 6

    Status: REVIEWED

    Source sequence(s)
    BC006318, BC052805, BF448882, BI222385, DA131656
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:345380
    VHP; Villin headpiece domain
    pfam16182
    Location:3344
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  26. NM_001323397.1NP_001310326.1  dematin isoform 6

    Status: REVIEWED

    Source sequence(s)
    BC006318, BC052805, BF448882, BI222385, BI547589, DA131656, HY024046
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:345380
    VHP; Villin headpiece domain
    pfam16182
    Location:3344
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  27. NM_001323398.1NP_001310327.1  dematin isoform 7

    Status: REVIEWED

    Source sequence(s)
    AK295452, BC052805, BF448882, BI222385, DA267327, DA521027
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:308343
    VHP; Villin headpiece domain
    pfam16182
    Location:3307
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  28. NM_001323399.1NP_001310328.1  dematin isoform 7

    Status: REVIEWED

    Source sequence(s)
    AK295452, BC052805, BF448882, BI222385, DA521027
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:308343
    VHP; Villin headpiece domain
    pfam16182
    Location:3307
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  29. NM_001323400.1NP_001310329.1  dematin isoform 7

    Status: REVIEWED

    Source sequence(s)
    AK295452, BC052805, BF448882, BI222385, DA141491, DA267327, DA383880
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:308343
    VHP; Villin headpiece domain
    pfam16182
    Location:3307
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  30. NM_001323401.1NP_001310330.1  dematin isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC091171, AK295452, BC052805, BF448882, BI222385, BM547218, DA267327
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:308343
    VHP; Villin headpiece domain
    pfam16182
    Location:3307
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  31. NM_001978.4NP_001969.2  dematin isoform 1

    See identical proteins and their annotated locations for NP_001969.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1-3 and 9-13 all encode the same isoform (1, also known as the 52 kDa subunit, PMID:7615546).
    Source sequence(s)
    BC006318, BC052805, BF448882, BI222385, DA170493, DA261872, DA267327
    Consensus CDS
    CCDS6020.1
    UniProtKB/Swiss-Prot
    Q08495
    Related
    ENSP00000427866.1, ENST00000523266.5
    Conserved Domains (2) summary
    smart00153
    Location:370405
    VHP; Villin headpiece domain
    pfam16182
    Location:10369
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    22048955..22082527
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013192.1XP_016868681.1  dematin isoform X3

  2. XM_017013196.2XP_016868685.1  dematin isoform X5

    UniProtKB/Swiss-Prot
    Q08495
    Related
    ENSP00000429234.2, ENST00000523782.6
    Conserved Domains (2) summary
    smart00153
    Location:323358
    VHP; Villin headpiece domain
    pfam16182
    Location:3322
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  3. XM_017013191.1XP_016868680.1  dematin isoform X3

  4. XM_017013193.1XP_016868682.1  dematin isoform X4

    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:330365
    VHP; Villin headpiece domain
    pfam16182
    Location:3329
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  5. XM_017013194.1XP_016868683.1  dematin isoform X4

    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:330365
    VHP; Villin headpiece domain
    pfam16182
    Location:3329
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  6. XM_017013198.1XP_016868687.1  dematin isoform X5

    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:323358
    VHP; Villin headpiece domain
    pfam16182
    Location:3322
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  7. XM_017013189.1XP_016868678.1  dematin isoform X2

    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:348383
    VHP; Villin headpiece domain
    pfam16182
    Location:10347
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  8. XM_017013195.1XP_016868684.1  dematin isoform X5

    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:323358
    VHP; Villin headpiece domain
    pfam16182
    Location:3322
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  9. XM_011544435.1XP_011542737.1  dematin isoform X1

    See identical proteins and their annotated locations for XP_011542737.1

    Conserved Domains (2) summary
    smart00153
    Location:355390
    VHP; Villin headpiece domain
    pfam16182
    Location:10354
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM
  10. XM_017013190.1XP_016868679.1  dematin isoform X3

  11. XM_017013197.1XP_016868686.1  dematin isoform X5

    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:323358
    VHP; Villin headpiece domain
    pfam16182
    Location:3322
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

RNA

  1. XR_002956616.1 RNA Sequence

  2. XR_002956605.1 RNA Sequence

  3. XR_002956611.1 RNA Sequence

  4. XR_002956619.1 RNA Sequence

  5. XR_002956614.1 RNA Sequence

  6. XR_002956612.1 RNA Sequence

  7. XR_002956617.1 RNA Sequence

  8. XR_002956610.1 RNA Sequence

  9. XR_002956606.1 RNA Sequence

  10. XR_002956618.1 RNA Sequence

  11. XR_002956620.1 RNA Sequence

  12. XR_002956615.1 RNA Sequence

  13. XR_002956608.1 RNA Sequence

  14. XR_002956613.1 RNA Sequence

  15. XR_002956604.1 RNA Sequence

  16. XR_002956609.1 RNA Sequence

  17. XR_002956607.1 RNA Sequence

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