Human Gene ADD3 (ENST00000356080.9_9) from GENCODE V47lift37
  Description: adducin 3, transcript variant 1 (from RefSeq NM_016824.5)
Gencode Transcript: ENST00000356080.9_9
Gencode Gene: ENSG00000148700.15_14
Transcript (Including UTRs)
   Position: hg19 chr10:111,767,742-111,895,323 Size: 127,582 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg19 chr10:111,860,412-111,893,376 Size: 32,965 Coding Exon Count: 14 

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 (chr10:111,767,742-111,895,323)mRNA (may differ from genome)Protein (706 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ADDG_HUMAN
DESCRIPTION: RecName: Full=Gamma-adducin; AltName: Full=Adducin-like protein 70;
FUNCTION: Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds to calmodulin.
SUBUNIT: Heterodimer of an alpha and a gamma subunit.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein; Cytoplasmic side.
TISSUE SPECIFICITY: Isoform 1 is ubiquitously expressed.
DOMAIN: Comprised of three regions: a N-terminal protease- resistant globular head region, a short connecting subdomain, and a protease-sensitive tail region.
PTM: Sumoylated.
SIMILARITY: Belongs to the aldolase class II family. Adducin subfamily.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ADD3ID520ch10q25.html";

-  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: ADD3
Diseases sorted by gene-association score: cerebral palsy, spastic quadriplegic, 3* (1230), cerebral palsy* (442), spastic diplegia* (400), spastic paraplegia 50, autosomal recessive* (283), inherited congenital spastic tetraplegia* (202), dyscalculia (9), hereditary elliptocytosis (8), biliary atresia (7), choledochal cyst (6), fibrillary astrocytoma (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 62.18 RPKM in Nerve - Tibial
Total median expression: 1100.74 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 -150.90345-0.437 Picture PostScript Text
3' UTR -411.301947-0.211 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
IPR001303 - Aldolase_II/adducin_N

Pfam Domains:
PF00596 - Class II Aldolase and Adducin N-terminal domain

SCOP Domains:
53639 - AraD/HMP-PK domain-like

ModBase Predicted Comparative 3D Structure on Q9UEY8
FrontTopSide
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    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0005198 structural molecule activity
GO:0005200 structural constituent of cytoskeleton
GO:0005516 calmodulin binding

Biological Process:
GO:0007010 cytoskeleton organization
GO:0055085 transmembrane transport

Cellular Component:
GO:0000794 condensed nuclear chromosome
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005903 brush border
GO:0005911 cell-cell junction
GO:0005938 cell cortex
GO:0014069 postsynaptic density
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  EF553523 - Homo sapiens clone DKFZp781G16126 ADD3 mRNA sequence.
AK223270 - Homo sapiens mRNA for adducin 3 isoform a variant, clone: STM08177.
AB209810 - Homo sapiens mRNA for adducin 3 isoform a variant protein.
D67031 - Homo sapiens ADDL mRNA for adducin-like protein, complete cds.
BC057285 - Homo sapiens adducin 3 (gamma), mRNA (cDNA clone IMAGE:5314479).
BX647403 - Homo sapiens mRNA; cDNA DKFZp686O0853 (from clone DKFZp686O0853).
BC062559 - Homo sapiens adducin 3 (gamma), mRNA (cDNA clone MGC:71198 IMAGE:6649991), complete cds.
BX648016 - Homo sapiens mRNA; cDNA DKFZp686N1359 (from clone DKFZp686N1359).
AK291488 - Homo sapiens cDNA FLJ77558 complete cds, highly similar to Homo sapiens adducin 3 (gamma) (ADD3), transcript variant 1, mRNA.
U37122 - Human adducin gamma subunit mRNA, complete cds.
BC043143 - Homo sapiens adducin 3 (gamma), mRNA (cDNA clone IMAGE:5295797).
DQ575250 - Homo sapiens piRNA piR-43362, complete sequence.
KJ890632 - Synthetic construct Homo sapiens clone ccsbBroadEn_00026 ADD3 gene, encodes complete protein.
BX647442 - Homo sapiens mRNA; cDNA DKFZp686K1799 (from clone DKFZp686K1799).
AK130789 - Homo sapiens cDNA FLJ27279 fis, clone TMS01179.
JD023994 - Sequence 5018 from Patent EP1572962.
JD033839 - Sequence 14863 from Patent EP1572962.
JD182953 - Sequence 163977 from Patent EP1572962.
JD327934 - Sequence 308958 from Patent EP1572962.
JD250701 - Sequence 231725 from Patent EP1572962.
JD126861 - Sequence 107885 from Patent EP1572962.
JD040087 - Sequence 21111 from Patent EP1572962.
BC021694 - Homo sapiens, clone IMAGE:4042587, mRNA.
JD172478 - Sequence 153502 from Patent EP1572962.
JD042870 - Sequence 23894 from Patent EP1572962.

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

Protein Q9UEY8 (Reactome details) participates in the following event(s):

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: ADDG_HUMAN, ADDL, D3DRA8, ENST00000356080.1, ENST00000356080.2, ENST00000356080.3, ENST00000356080.4, ENST00000356080.5, ENST00000356080.6, ENST00000356080.7, ENST00000356080.8, NM_016824, O43243, Q5VU09, Q92773, Q9UEY7, Q9UEY8, uc317zjs.1, uc317zjs.2
UCSC ID: ENST00000356080.9_9
RefSeq Accession: NM_016824.5
Protein: Q9UEY8 (aka ADDG_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.