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ADD3

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
ADD3
Identifiers
AliasesADD3, ADDL, adducin 3, CPSQ3
External IDsOMIM:601568;MGI:1351615;HomoloGene:40893;GeneCards:ADD3;OMA:ADD3 - orthologs
Gene location (Human)
Chromosome 10 (human)
Chr.Chromosome 10 (human)[1]
Chromosome 10 (human)
Genomic location for ADD3
Genomic location for ADD3
Band10q25.1-q25.2Start109,996,368bp[1]
End110,135,565bp[1]
Gene location (Mouse)
Chromosome 19 (mouse)
Chr.Chromosome 19 (mouse)[2]
Chromosome 19 (mouse)
Genomic location for ADD3
Genomic location for ADD3
Band19 D2|19 47.18 cMStart53,140,443bp[2]
End53,247,399bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • secondary oocyte

  • Region I of hippocampus proper

  • dorsal motor nucleus of vagus nerve

  • corpus callosum

  • external globus pallidus

  • corpus epididymis

  • trigeminal ganglion

  • retinal pigment epithelium

  • subthalamic nucleus

  • caput epididymis
Top expressed in
  • gastrula

  • transitional epithelium of urinary bladder

  • interventricular septum

  • stria vascularis

  • granulocyte

  • seminal vesicula

  • blood

  • neural layer of retina

  • vestibular membrane of cochlear duct

  • atrium
More reference expression data
BioGPS




More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

120

27360

Ensembl

ENSG00000148700

ENSMUSG00000025026

UniProt

Q9UEY8

Q9QYB5

RefSeq (mRNA)
NM_001121
NM_016824
NM_019903
NM_001320591
NM_001320592

NM_001320593
NM_001320594

NM_001164099
NM_001164100
NM_001164101
NM_001277100
NM_013758

RefSeq (protein)
NP_001112
NP_001307520
NP_001307521
NP_001307522
NP_001307523

NP_058432
NP_063968

NP_001157571
NP_001157572
NP_001157573
NP_001264029
NP_038786

Location (UCSC)Chr 10: 110 – 110.14 MbChr 19: 53.14 – 53.25 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Gamma-adducin is aprotein that in humans is encoded by theADD3gene.[5][6]

Adducins areheteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly ofspectrin-actin network inerythrocytes and at sites ofcell-cell contact inepithelial tissues. While adducins alpha and gamma areubiquitously expressed, the expression of adducin beta is restricted to brain andhematopoietic tissues. Adducin, originally purified from humanerythrocytes, was found to be aheterodimer of adducins alpha and beta.Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model ofhypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is composed of two distinct domains. Theamino-terminal region isprotease-resistant andglobular in shape, while thecarboxy-terminal region is protease-sensitive. The latter contains multiplephosphorylation sites forprotein kinase C, the binding site forcalmodulin, and is required for association withspectrin andactin. Alternativelyspliced adducin gamma transcripts encoding differentisoforms have been described. The functions of the different isoforms are not known.[6]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000148700Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000025026Ensembl, 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. ^Katagiri T, Ozaki K, Fujiwara T, Shimizu F, Kawai A, Okuno S, Suzuki M, Nakamura Y, Takahashi E, Hirai Y (Dec 1996). "Cloning, expression and chromosome mapping of adducin-like 70 (ADDL), a human cDNA highly homologous to human erythrocyte adducin".Cytogenet Cell Genet.74 (1–2):90–5.doi:10.1159/000134389.PMID 8893809.
  6. ^ab"Entrez Gene: ADD3 adducin 3 (gamma)".

External links

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Further reading

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