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ADD3 adducin 3 [ Homo sapiens (human) ]

Gene ID: 120, updated on 2-Oct-2018

Summary

Official Symbol
ADD3provided by HGNC
Official Full Name
adducin 3provided by HGNC
Primary source
HGNC:HGNC:245
See related
Ensembl:ENSG00000148700 MIM:601568; Vega:OTTHUMG00000019032
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
ADDL; CPSQ3
Summary
Adducins are heteromeric 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 of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer 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 of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in brain (RPKM 57.5), thyroid (RPKM 50.2) and 25 other tissues See more
Orthologs

Genomic context

See ADD3 in Genome Data Viewer
Location:
10q25.1-q25.2
Exon count:
23
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (109996350..110135565)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (111765627..111895323)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L21 pseudogene 91 Neighboring gene X-prolyl aminopeptidase 1 Neighboring gene RNA, U4 small nuclear 5, pseudogene Neighboring gene ADD3 antisense RNA 1 Neighboring gene uncharacterized LOC105378479 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 12

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cerebral palsy, spastic quadriplegic, 3
MedGen: C4310767 OMIM: 617008 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Vif downregulates the expression of adducin 3 protein gamma (ADD3) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
spectrin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
structural constituent of cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
structural molecule activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
actin filament bundle assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
barbed-end actin filament capping IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
brush border IEA
Inferred from Electronic Annotation
more info
 
cell cortex IEA
Inferred from Electronic Annotation
more info
 
cell-cell junction IEA
Inferred from Electronic Annotation
more info
 
condensed nuclear chromosome IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
membrane TAS
Traceable Author Statement
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane raft IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic density IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
gamma-adducin
Names
adducin 3 (gamma)
adducin-like protein 70

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.

Genomic

  1. NG_051033.1 RefSeqGene

    Range
    5001..144216
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001121.3NP_001112.2  gamma-adducin isoform b

    See identical proteins and their annotated locations for NP_001112.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region compared to variant 1.The encoded isoform (b) is shorter than isoform a. Both variants 2 and 3 encode the same isoform (b).
    Source sequence(s)
    BC021694, BC057285, BX647403, CF457028, DA072039
    Consensus CDS
    CCDS7562.1
    UniProtKB/Swiss-Prot
    Q9UEY8
    Related
    ENSP00000277900.8, OTTHUMP00000020463, ENST00000277900.12, OTTHUMT00000050290
    Conserved Domains (1) summary
    cl00214
    Location:137385
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  2. NM_001320591.1NP_001307520.1  gamma-adducin isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 and 4-6 encode the same isoform (a).
    Source sequence(s)
    AK223270, BC043143, BC057285, EF553523
    Consensus CDS
    CCDS7561.1
    UniProtKB/Swiss-Prot
    Q9UEY8
    UniProtKB/TrEMBL
    Q53FL4, Q5VU08
    Conserved Domains (1) summary
    cl00214
    Location:137385
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  3. NM_001320592.1NP_001307521.1  gamma-adducin isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1 and 4-6 encode the same isoform (a).
    Source sequence(s)
    AK223270, BC043143, BC057285, DA477660, EF553523
    Consensus CDS
    CCDS7561.1
    UniProtKB/Swiss-Prot
    Q9UEY8
    UniProtKB/TrEMBL
    Q53FL4, Q5VU08
    Conserved Domains (1) summary
    cl00214
    Location:137385
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  4. NM_001320593.1NP_001307522.1  gamma-adducin isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1 and 4-6 encode the same isoform (a).
    Source sequence(s)
    AB209810, AK223270, BC043143, DA477660
    Consensus CDS
    CCDS7561.1
    UniProtKB/Swiss-Prot
    Q9UEY8
    UniProtKB/TrEMBL
    Q53FL4, Q59EK1, Q5VU08
    Conserved Domains (1) summary
    cl00214
    Location:137385
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  5. NM_001320594.1NP_001307523.1  gamma-adducin isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR and initiates translation at a downstream start site compared to variant 1. The encoded isoform (c) has a shorter N-terminus compared to isoform a.
    Source sequence(s)
    BC021694, BC062559, CN428885, DA700119
    UniProtKB/Swiss-Prot
    Q9UEY8
    Conserved Domains (1) summary
    cl00214
    Location:59307
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  6. NM_016824.4NP_058432.1  gamma-adducin isoform a

    See identical proteins and their annotated locations for NP_058432.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1 and 4-6 encode the same isoform (a).
    Source sequence(s)
    BC021694, BC057285, BC062559, DA072039
    Consensus CDS
    CCDS7561.1
    UniProtKB/Swiss-Prot
    Q9UEY8
    UniProtKB/TrEMBL
    Q5VU08
    Related
    ENSP00000348381.4, OTTHUMP00000020462, ENST00000356080.8, OTTHUMT00000050289
    Conserved Domains (1) summary
    cl00214
    Location:137385
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  7. NM_019903.4NP_063968.1  gamma-adducin isoform b

    See identical proteins and their annotated locations for NP_063968.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon in the 3' coding region compared to variant 1.The encoded isoform (b) is shorter than isoform a. Both variants 2 and 3 encode the same isoform (b).
    Source sequence(s)
    BC021694, BC057285, CF457028, D67031, DA477660
    Consensus CDS
    CCDS7562.1
    UniProtKB/Swiss-Prot
    Q9UEY8
    Related
    ENSP00000353286.3, OTTHUMP00000020464, ENST00000360162.7, OTTHUMT00000050291
    Conserved Domains (1) summary
    cl00214
    Location:137385
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    109996350..110135565
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447799.1XP_024303567.1  gamma-adducin isoform X1

    Conserved Domains (1) summary
    cl00214
    Location:137385
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  2. XM_024447803.1XP_024303571.1  gamma-adducin isoform X2

    Conserved Domains (1) summary
    cl00214
    Location:137385
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  3. XM_024447797.1XP_024303565.1  gamma-adducin isoform X1

    Conserved Domains (1) summary
    cl00214
    Location:137385
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  4. XM_024447806.1XP_024303574.1  gamma-adducin isoform X2

    Conserved Domains (1) summary
    cl00214
    Location:137385
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  5. XM_024447808.1XP_024303576.1  gamma-adducin isoform X3

    Conserved Domains (1) summary
    cl00214
    Location:59307
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  6. XM_024447810.1XP_024303578.1  gamma-adducin isoform X4

    Conserved Domains (1) summary
    cl00214
    Location:59307
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  7. XM_024447809.1XP_024303577.1  gamma-adducin isoform X4

    Conserved Domains (1) summary
    cl00214
    Location:59307
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  8. XM_024447801.1XP_024303569.1  gamma-adducin isoform X1

    Conserved Domains (1) summary
    cl00214
    Location:137385
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  9. XM_024447807.1XP_024303575.1  gamma-adducin isoform X2

    Conserved Domains (1) summary
    cl00214
    Location:137385
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  10. XM_024447795.1XP_024303563.1  gamma-adducin isoform X1

    Conserved Domains (1) summary
    cl00214
    Location:137385
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  11. XM_024447804.1XP_024303572.1  gamma-adducin isoform X2

    Conserved Domains (1) summary
    cl00214
    Location:137385
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  12. XM_024447811.1XP_024303579.1  gamma-adducin isoform X5

    Conserved Domains (1) summary
    cl00214
    Location:2143
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  13. XM_024447814.1XP_024303582.1  gamma-adducin isoform X6

    Conserved Domains (1) summary
    cl00214
    Location:2143
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  14. XM_024447796.1XP_024303564.1  gamma-adducin isoform X1

    Conserved Domains (1) summary
    cl00214
    Location:137385
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  15. XM_024447805.1XP_024303573.1  gamma-adducin isoform X2

    Conserved Domains (1) summary
    cl00214
    Location:137385
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  16. XM_024447800.1XP_024303568.1  gamma-adducin isoform X1

    Conserved Domains (1) summary
    cl00214
    Location:137385
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  17. XM_024447812.1XP_024303580.1  gamma-adducin isoform X5

    Conserved Domains (1) summary
    cl00214
    Location:2143
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  18. XM_024447794.1XP_024303562.1  gamma-adducin isoform X1

    Conserved Domains (1) summary
    cl00214
    Location:137385
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  19. XM_024447798.1XP_024303566.1  gamma-adducin isoform X1

    Conserved Domains (1) summary
    cl00214
    Location:137385
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  20. XM_024447813.1XP_024303581.1  gamma-adducin isoform X5

    Conserved Domains (1) summary
    cl00214
    Location:2143
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  21. XM_024447802.1XP_024303570.1  gamma-adducin isoform X1

    Conserved Domains (1) summary
    cl00214
    Location:137385
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
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